"Genome-Nilou Lab"[submitter] AND "HEXA"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 989841	NM_000520.6(HEXA):c.1556T>A (p.Val519Glu)	HEXA (V519E +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
Select item 93191	NM_000520.6(HEXA):c.1518A>G (p.Glu506=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 287080	NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)	HEXA (A479T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 256350	NM_000520.6(HEXA):c.1331-46G>A	HEXA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 93189	NM_000520.6(HEXA):c.1306A>G (p.Ile436Val)	HEXA (I436V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 317043	NM_000520.6(HEXA):c.1107C>T (p.Gly369=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease +2 more	GConflicting classifications of pathogenicity
Select item 1172728	NM_000520.6(HEXA):c.1074-94C>A	HEXA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1172729	NM_000520.6(HEXA):c.1074-127A>T	HEXA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 256351	NM_000520.6(HEXA):c.672+30T>G	HEXA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1210422	NM_000520.6(HEXA):c.616G>A (p.Val206Ile)	HEXA (V206I +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 697552	NM_000520.6(HEXA):c.582G>A (p.Ala194=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1172730	NM_000520.6(HEXA):c.570+57G>A	HEXA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 554858	NM_000520.6(HEXA):c.134A>C (p.Gln45Pro)	HEXA (Q45P)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 93193	NM_000520.6(HEXA):c.9C>T (p.Ser3=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign