ClinVar for MedGen (Select 855217) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24406761.	NM_001365792.1(DAB1):c.122G>A (p.Arg41Gln) GRCh37: Chr1:57611048 GRCh38: Chr1:57145375	DAB1	R41Q	Spinocerebellar ataxia type 37	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 24406752.	NM_001365792.1(DAB1):c.43G>A (p.Ala15Thr) GRCh37: Chr1:57756660 GRCh38: Chr1:57290988	DAB1	A15T	Spinocerebellar ataxia type 37	Uncertain significance (Mar 9, 2020)	criteria provided, single submitter
Select item 23468073.	NM_001365792.1(DAB1):c.718G>C (p.Val240Leu) GRCh37: Chr1:57528562 GRCh38: Chr1:57062889	DAB1	V240L	Inborn genetic diseases, Spinocerebellar ataxia type 37	Uncertain significance (Sep 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12983134.	NM_001365792.1(DAB1):c.209G>A (p.Gly70Asp) GRCh37: Chr1:57602313 GRCh38: Chr1:57136640	DAB1	G70D	Spinocerebellar ataxia type 37	Uncertain significance (Jul 22, 2021)	no assertion criteria provided
Select item 4306915.	NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90] GRCh37: Chr1:57832716-57832797	DAB1		Spinocerebellar ataxia type 37	Pathogenic (Mar 17, 2017)	criteria provided, single submitter

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