ClinVar for MedGen (Select 340185) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066331	NM_002039.4(GAB1):c.1460_1462del (p.Met487_Gln488delinsLys)	GAB1	Deletion (inframe_indel)	Autosomal recessive nonsyndromic hearing loss 26	GUncertain significance
Select item 545492	NM_002039.4(GAB1):c.347G>A (p.Gly116Glu)	GAB1 (G116E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 26	GPathogenic