C0268275[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029825	NM_000405.5(GM2A):c.308T>C (p.Ile103Thr)	GM2A (I103T)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1029826	NM_000405.5(GM2A):c.427-13G>A	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 3889	NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	HEXA (Y427fs +1 more)	Duplication (frameshift variant)	Tay-Sachs disease +3 more	GPathogenic

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