"GAB1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052380	NM_002039.4(GAB1):c.51G>C (p.Pro17=)	GAB1	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GBenign
Select item 3050643	NM_002039.4(GAB1):c.582C>T (p.Pro194=)	GAB1	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GLikely benign
Select item 3044038	NM_002039.4(GAB1):c.1047T>C (p.His349=)	GAB1, LOC126807172	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GLikely benign
Select item 3031712	NM_002039.4(GAB1):c.1392A>G (p.Thr464=)	GAB1	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GLikely benign
Select item 3052468	NM_002039.4(GAB1):c.1586-1635C>T	GAB1	Single nucleotide variant (synonymous variant +1 more)	GAB1-related disorder	GBenign
Select item 3048227	NM_002039.4(GAB1):c.1890C>T (p.Leu630=)	GAB1	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GBenign
Select item 3045706	NM_002039.4(GAB1):c.2064G>A (p.Thr688=)	GAB1	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GLikely benign

ClinVar