"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "HEXA"[gene - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585376	NM_000520.6(HEXA):c.1412C>G (p.Pro471Arg)	HEXA (P471R +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 2584782	NM_000520.6(HEXA):c.1329A>C (p.Glu443Asp)	HEXA (E443D +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
Select item 3889	NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	HEXA (Y427fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 2585252	NM_000520.6(HEXA):c.1121A>G (p.Gln374Arg)	HEXA (Q374R +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
Select item 2748492	NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)	HEXA (N343K +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GConflicting classifications of pathogenicity
Select item 221281	NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)	HEXA (D322Y +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 375356	NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)	HEXA (T263I +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GConflicting classifications of pathogenicity
Select item 3896	NM_000520.6(HEXA):c.533G>A (p.Arg178His)	HEXA (R178H +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +4 more	GPathogenic/Likely pathogenic
Select item 3925	NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)	HEXA (R170W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic