Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 48521 single nucleotide variant NM_152467.3(KLHL10):c.647A>C (p.Gln216Pro) 116420871 MedGen:C3554453,OMIM:615081 17 39998527 39998527 A C 48521 single nucleotide variant NM_152467.3(KLHL10):c.647A>C (p.Gln216Pro) 116420871 MedGen:C3554453,OMIM:615081 17 41842275 41842275 A C 48522 single nucleotide variant NM_152467.3(KLHL10):c.937G>A (p.Ala313Thr) 370756367 MedGen:C3554453,OMIM:615081 17 40001630 40001630 G A 48522 single nucleotide variant NM_152467.3(KLHL10):c.937G>A (p.Ala313Thr) 370756367 MedGen:C3554453,OMIM:615081 17 41845378 41845378 G A 48523 deletion KLHL10, IVS3, 4-BP DEL, +121 -1 MedGen:C3554453,OMIM:615081 na -1 -1 na na

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000161594.6 KLHL10 608778