ClinVar for MedGen (Select 855217) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068648	NM_001365792.1(DAB1):c.-136-4G>T	DAB1	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 37	GBenign
Select item 2440676	NM_001365792.1(DAB1):c.122G>A (p.Arg41Gln)	DAB1 (R41Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 37 +1 more	GUncertain significance
Select item 2440675	NM_001365792.1(DAB1):c.43G>A (p.Ala15Thr)	DAB1 (A15T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 37	GUncertain significance
Select item 2346807	NM_001365792.1(DAB1):c.718G>C (p.Val240Leu)	DAB1 (V240L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1298313	NM_001365792.1(DAB1):c.209G>A (p.Gly70Asp)	DAB1 (G70D)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 37	GUncertain significance
Select item 430691	NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]	DAB1	Insertion	Spinocerebellar ataxia type 37	GPathogenic

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