"Clinical Genetics, Academic Medical Center"[submitter] AND "GJA1"[gen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137482	NM_000165.5(GJA1):c.717G>A (p.Arg239=)	GJA1	Single nucleotide variant (synonymous variant)	Syndactyly type 3 +4 more	GBenign/Likely benign
Select item 137483	NM_000165.5(GJA1):c.758C>T (p.Ala253Val)	GJA1 (A253V)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia +3 more	GBenign/Likely benign
Select item 255409	NM_000165.5(GJA1):c.*3dup	GJA1	Duplication (3 prime UTR variant)	not specified +5 more	GBenign

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