Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 15882 single nucleotide variant NM_153033.4(KCTD7):c.295C>T (p.Arg99Ter) 267607199 MedGen:C2673257,OMIM:611726,Orphanet:ORPHA263516 7 66098412 66098412 C T 15882 single nucleotide variant NM_153033.4(KCTD7):c.295C>T (p.Arg99Ter) 267607199 MedGen:C2673257,OMIM:611726,Orphanet:ORPHA263516 7 66633425 66633425 C T 45589 single nucleotide variant NM_153033.4(KCTD7):c.550C>T (p.Arg184Cys) 387907246 MedGen:C4017260 7 66103899 66103899 C T 45589 single nucleotide variant NM_153033.4(KCTD7):c.550C>T (p.Arg184Cys) 387907246 MedGen:C4017260 7 66638912 66638912 C T 45675 deletion NM_153033.4(KCTD7):c.594delC (p.Ile199Serfs) 727502785 MedGen:C2673257,OMIM:611726,Orphanet:ORPHA263516 7 66638956 66638956 C - 45675 deletion NM_153033.4(KCTD7):c.594delC (p.Ile199Serfs) 727502785 MedGen:C2673257,OMIM:611726,Orphanet:ORPHA263516 7 66103943 66103943 C - 45676 single nucleotide variant NM_153033.4(KCTD7):c.280C>T (p.Arg94Trp) 387907260 MedGen:C2673257,OMIM:611726,Orphanet:ORPHA263516 7 66098397 66098397 C T 45676 single nucleotide variant NM_153033.4(KCTD7):c.280C>T (p.Arg94Trp) 387907260 MedGen:C2673257,OMIM:611726,Orphanet:ORPHA263516 7 66633410 66633410 C T 45677 single nucleotide variant NM_153033.4(KCTD7):c.818A>T (p.Asn273Ile) 387907261 MedGen:C2673257,OMIM:611726,Orphanet:ORPHA263516 7 66104167 66104167 A T 45677 single nucleotide variant NM_153033.4(KCTD7):c.818A>T (p.Asn273Ile) 387907261 MedGen:C2673257,OMIM:611726,Orphanet:ORPHA263516 7 66639180 66639180 A T 45678 single nucleotide variant NM_153033.4(KCTD7):c.343G>T (p.Asp115Tyr) 387907262 MedGen:C2673257,OMIM:611726,Orphanet:ORPHA263516 7 66103268 66103268 G T 45678 single nucleotide variant NM_153033.4(KCTD7):c.343G>T (p.Asp115Tyr) 387907262 MedGen:C2673257,OMIM:611726,Orphanet:ORPHA263516 7 66638281 66638281 G T 45679 single nucleotide variant NM_153033.4(KCTD7):c.322C>A (p.Leu108Met) 387907263 MedGen:C2673257,OMIM:611726,Orphanet:ORPHA263516 7 66103247 66103247 C A 45679 single nucleotide variant NM_153033.4(KCTD7):c.322C>A (p.Leu108Met) 387907263 MedGen:C2673257,OMIM:611726,Orphanet:ORPHA263516 7 66638260 66638260 C A 134815 single nucleotide variant NM_153033.4(KCTD7):c.133C>T (p.Leu45=) 587780370 MedGen:CN221809 7 66094184 66094184 C T 134815 single nucleotide variant NM_153033.4(KCTD7):c.133C>T (p.Leu45=) 587780370 MedGen:CN221809 7 66629197 66629197 C T 134816 single nucleotide variant NM_153033.4(KCTD7):c.267G>A (p.Thr89=) 3764904 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66098384 66098384 G A 134816 single nucleotide variant NM_153033.4(KCTD7):c.267G>A (p.Thr89=) 3764904 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66633397 66633397 G A 134817 single nucleotide variant NM_153033.4(KCTD7):c.654C>T (p.Asp218=) 117194263 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66104003 66104003 C T 134817 single nucleotide variant NM_153033.4(KCTD7):c.654C>T (p.Asp218=) 117194263 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66639016 66639016 C T 141757 single nucleotide variant NM_153033.4(KCTD7):c.687T>C (p.Asp229=) 372150992 MedGen:CN169374 7 66104036 66104036 T C 141757 single nucleotide variant NM_153033.4(KCTD7):c.687T>C (p.Asp229=) 372150992 MedGen:CN169374 7 66639049 66639049 T C 141758 single nucleotide variant NM_153033.4(KCTD7):c.*9G>T 116630203 MedGen:CN169374 7 66104228 66104228 G T 141758 single nucleotide variant NM_153033.4(KCTD7):c.*9G>T 116630203 MedGen:CN169374 7 66639241 66639241 G T 141759 single nucleotide variant NM_153033.4(KCTD7):c.-49C>T 374505432 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66094003 66094003 C T 141759 single nucleotide variant NM_153033.4(KCTD7):c.-49C>T 374505432 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66629016 66629016 C T 141760 single nucleotide variant NM_153033.4(KCTD7):c.384G>A (p.Glu128=) 145238250 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66103309 66103309 G A 141760 single nucleotide variant NM_153033.4(KCTD7):c.384G>A (p.Glu128=) 145238250 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66638322 66638322 G A 192578 single nucleotide variant NM_153033.4(KCTD7):c.190A>G (p.Thr64Ala) 201296399 MedGen:CN169374 7 66098307 66098307 A G 192578 single nucleotide variant NM_153033.4(KCTD7):c.190A>G (p.Thr64Ala) 201296399 MedGen:CN169374 7 66633320 66633320 A G 194542 single nucleotide variant NM_153033.4(KCTD7):c.793G>A (p.Gly265Arg) 200415747 MedGen:CN169374 7 66104142 66104142 G A 194542 single nucleotide variant NM_153033.4(KCTD7):c.793G>A (p.Gly265Arg) 200415747 MedGen:CN169374 7 66639155 66639155 G A 202126 single nucleotide variant NM_153033.4(KCTD7):c.50C>T (p.Ala17Val) 796052690 MedGen:CN169374 7 66094101 66094101 C T 202126 single nucleotide variant NM_153033.4(KCTD7):c.50C>T (p.Ala17Val) 796052690 MedGen:CN169374 7 66629114 66629114 C T 202127 single nucleotide variant NM_153033.4(KCTD7):c.68C>T (p.Ala23Val) 745360140 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66629132 66629132 C T 202127 single nucleotide variant NM_153033.4(KCTD7):c.68C>T (p.Ala23Val) 745360140 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66094119 66094119 C T 202128 single nucleotide variant NM_153033.4(KCTD7):c.76G>T (p.Asp26Tyr) 371919994 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66094127 66094127 G T 202128 single nucleotide variant NM_153033.4(KCTD7):c.76G>T (p.Asp26Tyr) 371919994 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66629140 66629140 G T 202129 single nucleotide variant NM_153033.4(KCTD7):c.140A>G (p.Gln47Arg) 796052687 MedGen:CN169374 7 66094191 66094191 A G 202129 single nucleotide variant NM_153033.4(KCTD7):c.140A>G (p.Gln47Arg) 796052687 MedGen:CN169374 7 66629204 66629204 A G 202130 single nucleotide variant NM_153033.4(KCTD7):c.192A>G (p.Thr64=) 142526573 MedGen:CN169374 7 66098309 66098309 A G 202130 single nucleotide variant NM_153033.4(KCTD7):c.192A>G (p.Thr64=) 142526573 MedGen:CN169374 7 66633322 66633322 A G 202131 single nucleotide variant NM_153033.4(KCTD7):c.193C>T (p.Arg65Cys) 200321023 MedGen:CN169374 7 66098310 66098310 C T 202131 single nucleotide variant NM_153033.4(KCTD7):c.193C>T (p.Arg65Cys) 200321023 MedGen:CN169374 7 66633323 66633323 C T 202132 single nucleotide variant NM_153033.4(KCTD7):c.256T>C (p.Tyr86His) 149255570 MedGen:CN169374 7 66633386 66633386 T C 202132 single nucleotide variant NM_153033.4(KCTD7):c.256T>C (p.Tyr86His) 149255570 MedGen:CN169374 7 66098373 66098373 T C 202133 single nucleotide variant NM_153033.4(KCTD7):c.273C>T (p.Ser91=) 139585796 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66098390 66098390 C T 202133 single nucleotide variant NM_153033.4(KCTD7):c.273C>T (p.Ser91=) 139585796 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66633403 66633403 C T 202134 single nucleotide variant NM_153033.4(KCTD7):c.335G>A (p.Arg112His) 774026720 MedGen:CN221809 7 66638273 66638273 G A 202134 single nucleotide variant NM_153033.4(KCTD7):c.335G>A (p.Arg112His) 774026720 MedGen:CN221809 7 66103260 66103260 G A 202135 single nucleotide variant NM_153033.4(KCTD7):c.362G>T (p.Arg121Leu) 199624315 MedGen:CN221809 7 66103287 66103287 G T 202135 single nucleotide variant NM_153033.4(KCTD7):c.362G>T (p.Arg121Leu) 199624315 MedGen:CN221809 7 66638300 66638300 G T 202136 single nucleotide variant NM_153033.4(KCTD7):c.444G>T (p.Lys148Asn) 746540809 MedGen:CN169374 7 66638382 66638382 G T 202136 single nucleotide variant NM_153033.4(KCTD7):c.444G>T (p.Lys148Asn) 746540809 MedGen:CN169374 7 66103369 66103369 G T 202137 single nucleotide variant NM_153033.4(KCTD7):c.447C>T (p.Gly149=) 767984903 MedGen:CN169374 7 66103372 66103372 C T 202137 single nucleotide variant NM_153033.4(KCTD7):c.447C>T (p.Gly149=) 767984903 MedGen:CN169374 7 66638385 66638385 C T 202138 single nucleotide variant NM_153033.4(KCTD7):c.456G>A (p.Val152=) 796052686 MedGen:CN169374 7 66103381 66103381 G A 202138 single nucleotide variant NM_153033.4(KCTD7):c.456G>A (p.Val152=) 796052686 MedGen:CN169374 7 66638394 66638394 G A 202140 single nucleotide variant NM_153033.4(KCTD7):c.507G>C (p.Arg169=) 142379946 MedGen:CN169374 7 66638869 66638869 G C 202140 single nucleotide variant NM_153033.4(KCTD7):c.507G>C (p.Arg169=) 142379946 MedGen:CN169374 7 66103856 66103856 G C 202141 deletion NM_153033.4(KCTD7):c.536_543delTCCAGCGG (p.Val179Glufs) 796052688 MedGen:CN221809 7 66638898 66638905 TCCAGCGG - 202141 deletion NM_153033.4(KCTD7):c.536_543delTCCAGCGG (p.Val179Glufs) 796052688 MedGen:CN221809 7 66103885 66103892 TCCAGCGG - 202142 single nucleotide variant NM_153033.4(KCTD7):c.704G>C (p.Trp235Ser) 796052689 MedGen:CN221809 7 66104053 66104053 G C 202142 single nucleotide variant NM_153033.4(KCTD7):c.704G>C (p.Trp235Ser) 796052689 MedGen:CN221809 7 66639066 66639066 G C 247827 copy number gain NC_000007.13:g.(?_66103208)_(66105624_?)dup -1 - 7 66103208 66105624 na na 252906 duplication NM_153033.4(KCTD7):c.493+18_493+21dupAGGA 57580125 MedGen:CN169374 7 66103436 66103439 AGGA AGGAAGGA 252906 duplication NM_153033.4(KCTD7):c.493+18_493+21dupAGGA 57580125 MedGen:CN169374 7 66638449 66638452 AGGA AGGAAGGA 269762 single nucleotide variant NM_153033.4(KCTD7):c.784C>G (p.Gln262Glu) 886043127 MedGen:CN169374 7 66104133 66104133 C G 269762 single nucleotide variant NM_153033.4(KCTD7):c.784C>G (p.Gln262Glu) 886043127 MedGen:CN169374 7 66639146 66639146 C G 303275 single nucleotide variant NM_153033.4(KCTD7):c.-155G>C 886062408 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66628910 66628910 G C 303275 single nucleotide variant NM_153033.4(KCTD7):c.-155G>C 886062408 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66093897 66093897 G C 303276 single nucleotide variant NM_153033.4(KCTD7):c.-69C>T 536230559 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66628996 66628996 C T 303276 single nucleotide variant NM_153033.4(KCTD7):c.-69C>T 536230559 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66093983 66093983 C T 303280 deletion NM_153033.4(KCTD7):c.*863_*865delCCT 886062416 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66105082 66105084 CCT - 303280 deletion NM_153033.4(KCTD7):c.*863_*865delCCT 886062416 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66640095 66640097 CCT - 303285 single nucleotide variant NM_153033.4(KCTD7):c.*979C>A 9791713 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66640211 66640211 C A 303285 single nucleotide variant NM_153033.4(KCTD7):c.*979C>A 9791713 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66105198 66105198 C A 303286 single nucleotide variant NM_153033.4(KCTD7):c.*1293A>G 886062419 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66640525 66640525 A G 303286 single nucleotide variant NM_153033.4(KCTD7):c.*1293A>G 886062419 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66105512 66105512 A G 303287 single nucleotide variant NM_153033.4(KCTD7):c.*1624T>C 765576236 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66640856 66640856 T C 303287 single nucleotide variant NM_153033.4(KCTD7):c.*1624T>C 765576236 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66105843 66105843 T C 303293 single nucleotide variant NM_153033.4(KCTD7):c.*1727G>C 17229513 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66640959 66640959 G C 303293 single nucleotide variant NM_153033.4(KCTD7):c.*1727G>C 17229513 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66105946 66105946 G C 303294 single nucleotide variant NM_153033.4(KCTD7):c.*1740G>A 886062420 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66640972 66640972 G A 303294 single nucleotide variant NM_153033.4(KCTD7):c.*1740G>A 886062420 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66105959 66105959 G A 303295 single nucleotide variant NM_153033.4(KCTD7):c.*1911C>G 565110569 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66641143 66641143 C G 303295 single nucleotide variant NM_153033.4(KCTD7):c.*1911C>G 565110569 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66106130 66106130 C G 303297 single nucleotide variant NM_153033.4(KCTD7):c.*2009A>G 184129807 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66641241 66641241 A G 303297 single nucleotide variant NM_153033.4(KCTD7):c.*2009A>G 184129807 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66106228 66106228 A G 303299 single nucleotide variant NM_153033.4(KCTD7):c.*2656A>G 1860469 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66641888 66641888 A G 303299 single nucleotide variant NM_153033.4(KCTD7):c.*2656A>G 1860469 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66106875 66106875 A G 303300 single nucleotide variant NM_153033.4(KCTD7):c.*2805C>T 1267818 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66642037 66642037 C T 303300 single nucleotide variant NM_153033.4(KCTD7):c.*2805C>T 1267818 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66107024 66107024 C T 303305 single nucleotide variant NM_153033.4(KCTD7):c.*3033T>C 1860468 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66642265 66642265 T C 303305 single nucleotide variant NM_153033.4(KCTD7):c.*3033T>C 1860468 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66107252 66107252 T C 303313 deletion NM_153033.4(KCTD7):c.*3938_*3940delCAA 35961913 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66643170 66643172 CAA - 303313 deletion NM_153033.4(KCTD7):c.*3938_*3940delCAA 35961913 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66108157 66108159 CAA - 303314 single nucleotide variant NM_153033.4(KCTD7):c.*3961C>T 144713969 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66643193 66643193 C T 303314 single nucleotide variant NM_153033.4(KCTD7):c.*3961C>T 144713969 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66108180 66108180 C T 306614 single nucleotide variant NM_153033.4(KCTD7):c.-145C>G 886062409 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66628920 66628920 C G 306614 single nucleotide variant NM_153033.4(KCTD7):c.-145C>G 886062409 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66093907 66093907 C G 306615 single nucleotide variant NM_153033.4(KCTD7):c.-87A>C 886062411 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66628978 66628978 A C 306615 single nucleotide variant NM_153033.4(KCTD7):c.-87A>C 886062411 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66093965 66093965 A C 306616 single nucleotide variant NM_153033.4(KCTD7):c.-46C>G 886062412 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66629019 66629019 C G 306616 single nucleotide variant NM_153033.4(KCTD7):c.-46C>G 886062412 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66094006 66094006 C G 306617 single nucleotide variant NM_153033.4(KCTD7):c.403G>A (p.Gly135Arg) 781725855 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66638341 66638341 G A 306617 single nucleotide variant NM_153033.4(KCTD7):c.403G>A (p.Gly135Arg) 781725855 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778;MedGen:CN169374 7 66103328 66103328 G A 306619 single nucleotide variant NM_153033.4(KCTD7):c.*221G>T 151151235 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66639453 66639453 G T 306619 single nucleotide variant NM_153033.4(KCTD7):c.*221G>T 151151235 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66104440 66104440 G T 306621 single nucleotide variant NM_153033.4(KCTD7):c.*354C>G 540871291 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66639586 66639586 C G 306621 single nucleotide variant NM_153033.4(KCTD7):c.*354C>G 540871291 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66104573 66104573 C G 306623 single nucleotide variant NM_153033.4(KCTD7):c.*837A>G 886062415 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66105056 66105056 A G 306623 single nucleotide variant NM_153033.4(KCTD7):c.*837A>G 886062415 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66640069 66640069 A G 306626 single nucleotide variant NM_153033.4(KCTD7):c.*944C>G 9791712 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66105163 66105163 C G 306626 single nucleotide variant NM_153033.4(KCTD7):c.*944C>G 9791712 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66640176 66640176 C G 306628 single nucleotide variant NM_153033.4(KCTD7):c.*1123A>G 886062418 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66640355 66640355 A G 306628 single nucleotide variant NM_153033.4(KCTD7):c.*1123A>G 886062418 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66105342 66105342 A G 306630 single nucleotide variant NM_153033.4(KCTD7):c.*1960T>C 752605506 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66641192 66641192 T C 306630 single nucleotide variant NM_153033.4(KCTD7):c.*1960T>C 752605506 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66106179 66106179 T C 306636 single nucleotide variant NM_153033.4(KCTD7):c.*2175C>A 369221941 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66641407 66641407 C A 306636 single nucleotide variant NM_153033.4(KCTD7):c.*2175C>A 369221941 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66106394 66106394 C A 306637 duplication NM_153033.4(KCTD7):c.*2223_*2226dupTGCA 886062422 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66106442 66106445 TGCA TGCATGCA 306637 duplication NM_153033.4(KCTD7):c.*2223_*2226dupTGCA 886062422 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66641455 66641458 TGCA TGCATGCA 306658 single nucleotide variant NM_153033.4(KCTD7):c.*2746G>C 886062424 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66641978 66641978 G C 306658 single nucleotide variant NM_153033.4(KCTD7):c.*2746G>C 886062424 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66106965 66106965 G C 306670 single nucleotide variant NM_153033.4(KCTD7):c.*2806G>A 886062425 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66642038 66642038 G A 306670 single nucleotide variant NM_153033.4(KCTD7):c.*2806G>A 886062425 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66107025 66107025 G A 311499 single nucleotide variant NM_153033.4(KCTD7):c.-181T>G 886062407 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66093871 66093871 T G 311499 single nucleotide variant NM_153033.4(KCTD7):c.-181T>G 886062407 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66628884 66628884 T G 311500 single nucleotide variant NM_153033.4(KCTD7):c.-94C>T 886062410 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66628971 66628971 C T 311500 single nucleotide variant NM_153033.4(KCTD7):c.-94C>T 886062410 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66093958 66093958 C T 311502 single nucleotide variant NM_153033.4(KCTD7):c.-44C>T 35526611 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66094008 66094008 C T 311502 single nucleotide variant NM_153033.4(KCTD7):c.-44C>T 35526611 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66629021 66629021 C T 311507 single nucleotide variant NM_153033.4(KCTD7):c.*216A>G 77341088 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66639448 66639448 A G 311507 single nucleotide variant NM_153033.4(KCTD7):c.*216A>G 77341088 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66104435 66104435 A G 311518 single nucleotide variant NM_153033.4(KCTD7):c.*690G>C 4718382 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66104909 66104909 G C 311518 single nucleotide variant NM_153033.4(KCTD7):c.*690G>C 4718382 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66639922 66639922 G C 311520 single nucleotide variant NM_153033.4(KCTD7):c.*708C>T 79736939 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66104927 66104927 C T 311520 single nucleotide variant NM_153033.4(KCTD7):c.*708C>T 79736939 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66639940 66639940 C T 311524 single nucleotide variant NM_153033.4(KCTD7):c.*892C>T 886062417 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66105111 66105111 C T 311524 single nucleotide variant NM_153033.4(KCTD7):c.*892C>T 886062417 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66640124 66640124 C T 311531 single nucleotide variant NM_153033.4(KCTD7):c.*1581C>G 570131389 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66640813 66640813 C G 311531 single nucleotide variant NM_153033.4(KCTD7):c.*1581C>G 570131389 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66105800 66105800 C G 311538 single nucleotide variant NM_153033.4(KCTD7):c.*1587C>T 190087991 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66640819 66640819 C T 311538 single nucleotide variant NM_153033.4(KCTD7):c.*1587C>T 190087991 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66105806 66105806 C T 311539 single nucleotide variant NM_153033.4(KCTD7):c.*1619A>G 115778754 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66640851 66640851 A G 311539 single nucleotide variant NM_153033.4(KCTD7):c.*1619A>G 115778754 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66105838 66105838 A G 311543 single nucleotide variant NM_153033.4(KCTD7):c.*2080A>G 73702140 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66641312 66641312 A G 311543 single nucleotide variant NM_153033.4(KCTD7):c.*2080A>G 73702140 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66106299 66106299 A G 311545 single nucleotide variant NM_153033.4(KCTD7):c.*2322G>A 886062423 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66641554 66641554 G A 311545 single nucleotide variant NM_153033.4(KCTD7):c.*2322G>A 886062423 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66106541 66106541 G A 311546 single nucleotide variant NM_153033.4(KCTD7):c.*2692A>G 573138370 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66641924 66641924 A G 311546 single nucleotide variant NM_153033.4(KCTD7):c.*2692A>G 573138370 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66106911 66106911 A G 311547 single nucleotide variant NM_153033.4(KCTD7):c.*2868C>T 886062426 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66642100 66642100 C T 311547 single nucleotide variant NM_153033.4(KCTD7):c.*2868C>T 886062426 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66107087 66107087 C T 311548 single nucleotide variant NM_153033.4(KCTD7):c.*3752C>G 73133851 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66642984 66642984 C G 311548 single nucleotide variant NM_153033.4(KCTD7):c.*3752C>G 73133851 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66107971 66107971 C G 311551 single nucleotide variant NM_153033.4(KCTD7):c.*3991G>C 147205609 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66643223 66643223 G C 311551 single nucleotide variant NM_153033.4(KCTD7):c.*3991G>C 147205609 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66108210 66108210 G C 311654 single nucleotide variant NM_153033.4(KCTD7):c.-170G>T 191169882 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66628895 66628895 G T 311654 single nucleotide variant NM_153033.4(KCTD7):c.-170G>T 191169882 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66093882 66093882 G T 311664 single nucleotide variant NM_153033.4(KCTD7):c.18G>C (p.Gly6=) 886062413 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66629082 66629082 G C 311664 single nucleotide variant NM_153033.4(KCTD7):c.18G>C (p.Gly6=) 886062413 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66094069 66094069 G C 311667 single nucleotide variant NM_153033.4(KCTD7):c.369A>C (p.Arg123=) 753658170 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66638307 66638307 A C 311667 single nucleotide variant NM_153033.4(KCTD7):c.369A>C (p.Arg123=) 753658170 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66103294 66103294 A C 311674 single nucleotide variant NM_153033.4(KCTD7):c.749C>T (p.Thr250Met) 760837610 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66639111 66639111 C T 311674 single nucleotide variant NM_153033.4(KCTD7):c.749C>T (p.Thr250Met) 760837610 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66104098 66104098 C T 311678 single nucleotide variant NM_153033.4(KCTD7):c.*55C>T 886062414 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66639287 66639287 C T 311678 single nucleotide variant NM_153033.4(KCTD7):c.*55C>T 886062414 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66104274 66104274 C T 311686 single nucleotide variant NM_153033.4(KCTD7):c.*668T>G 765653009 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66639900 66639900 T G 311686 single nucleotide variant NM_153033.4(KCTD7):c.*668T>G 765653009 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66104887 66104887 T G 311687 single nucleotide variant NM_153033.4(KCTD7):c.*880T>C 117143942 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66105099 66105099 T C 311687 single nucleotide variant NM_153033.4(KCTD7):c.*880T>C 117143942 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66640112 66640112 T C 311688 single nucleotide variant NM_153033.4(KCTD7):c.*1810C>T 886062421 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66641042 66641042 C T 311688 single nucleotide variant NM_153033.4(KCTD7):c.*1810C>T 886062421 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66106029 66106029 C T 311690 single nucleotide variant NM_153033.4(KCTD7):c.*1926G>A 117267079 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66641158 66641158 G A 311690 single nucleotide variant NM_153033.4(KCTD7):c.*1926G>A 117267079 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66106145 66106145 G A 311712 single nucleotide variant NM_153033.4(KCTD7):c.*3508G>T 573049844 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66642740 66642740 G T 311712 single nucleotide variant NM_153033.4(KCTD7):c.*3508G>T 573049844 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66107727 66107727 G T 311714 single nucleotide variant NM_153033.4(KCTD7):c.*3825T>A 768325782 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66643057 66643057 T A 311714 single nucleotide variant NM_153033.4(KCTD7):c.*3825T>A 768325782 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66108044 66108044 T A 311715 single nucleotide variant NM_153033.4(KCTD7):c.*3836T>G 370135424 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66643068 66643068 T G 311715 single nucleotide variant NM_153033.4(KCTD7):c.*3836T>G 370135424 MedGen:C0751778,OMIM:310370,Orphanet:ORPHA98261,SNOMED CT:C0751778 7 66108055 66108055 T G

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 7 66095738 rs1638735 A G rs1638735 2.63E-05 Aortic root size HPOID:0002597 DOID:1287 C intron GWASdb_trait 7 66096028 rs10263935 G A rs10263935 4.00E-07 Aortic root size HPOID:0002597 DOID:1287 G intron GWASdb_trait 7 66098482 rs3764903 G A rs3764903 3.90E-06 Corneal structure HPOID:0000481 DOID:10124 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000243335.8 KCTD7 611725