Variant Identifiers	ClinVar Name	Variant Type	Clinical Significance	Phenotype Condition	Review Status	Variation/condition record
Indigenome VS ClinVar IDs	Relevant information available in ClinVar
IndiGenomes: chr9:131509782:A>G ClinVar: chr9:131509782:CAG>C	NM_001077365.2(POMT1):c.579_580del (p.Val195fs)	Deletion	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Multiple Submitters No Conflicts	6 SubmittersRCV001008771 RCV001328596 RCV001862754 RCV003461312 RCV004702574 RCV005047198
IndiGenomes: chr9:131511451:G>A ClinVar: chr9:131511451:G>A	NM_001077365.2(POMT1):c.970G>A (p.Asp324Asn)	SNV	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	2 SubmittersRCV000302034 RCV003258719
IndiGenomes: chr9:131512069:C>T ClinVar: chr9:131512069:C>T	NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)	SNV	Pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	3 SubmittersRCV000734638 RCV003465669
IndiGenomes: chr9:131515445:C>A ClinVar: chr9:131515445:CCT>C	NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)	Deletion	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2K Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	7 SubmittersRCV000729516 RCV000799994 RCV002485867 RCV003472262