"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GM2A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256030	NM_000405.5(GM2A):c.55G>A (p.Ala19Thr)	GM2A (A19T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 167150	NM_000405.5(GM2A):c.175A>G (p.Ile59Val)	GM2A (I59V)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB +1 more	GBenign
Select item 167151	NM_000405.5(GM2A):c.205A>G (p.Met69Val)	GM2A (M69V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1420229	NM_000405.5(GM2A):c.244G>C (p.Val82Leu)	GM2A (V82L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1178787	NM_000405.5(GM2A):c.346G>C (p.Asp116His)	GM2A (D116H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 558901	NM_000405.5(GM2A):c.427-22C>T	GM2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 352255	NM_000405.5(GM2A):c.458T>C (p.Val153Ala)	GM2A (V153A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 167152	NM_000405.5(GM2A):c.582A>G (p.Ter194=)	GM2A	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 256029	NM_000405.5(GM2A):c.*28C>T	GM2A	Single nucleotide variant (3 prime UTR variant +1 more)	Tay-Sachs disease, variant AB +2 more	GBenign

ClinVar