"GeneDx"[submitter] AND "GM2A"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 1267493	NC_000005.10:g.151252773C>T	GM2A	Single nucleotide variant	not provided	GBenign
Select item 352249	NM_000405.4(GM2A):c.-102A>G	GM2A, LOC129995043	Single nucleotide variant	not provided +1 more	GBenign
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 1228124	NM_000405.5(GM2A):c.81+250C>A	GM2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243174	NM_000405.5(GM2A):c.82-154C>G	GM2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263090	NM_000405.5(GM2A):c.82-92T>A	GM2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262392	NM_000405.5(GM2A):c.243+144C>G	GM2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235161	NM_000405.5(GM2A):c.243+301G>A	GM2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3340369	NM_000405.5(GM2A):c.259G>T (p.Glu87Ter)	GM2A (E87*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1686742	NM_000405.5(GM2A):c.296G>A (p.Cys99Tyr)	GM2A (C99Y)	Single nucleotide variant (missense variant)	not provided	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 1305434	NM_000405.5(GM2A):c.367del (p.Glu123fs)	GM2A (E123fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 1283878	NM_000405.5(GM2A):c.426+173T>C	GM2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255267	NM_000405.5(GM2A):c.427-121C>T	GM2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234926	NM_000405.5(GM2A):c.427-77A>C	GM2A	Single nucleotide variant (intron variant)	not provided	GBenign
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 1036575	NM_000405.5(GM2A):c.575G>T (p.Gly192Val)	GM2A (G192V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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
Select item 352256	NM_000405.5(GM2A):c.*144T>C	GM2A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 352259	NM_000405.5(GM2A):c.*227A>G	GM2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 352266	NM_000405.5(GM2A):c.*401G>A	GM2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

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Items: 23