"Fulgent Genetics, Fulgent Genetics"[submitter] AND "HEXA"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619222	NM_000520.6(HEXA):c.1499del (p.Leu500fs)	HEXA (L511fs +1 more)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 3890	NM_000520.6(HEXA):c.1421+1G>C	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease +1 more	GPathogenic
Select item 1367086	NM_000520.6(HEXA):c.1309G>A (p.Val437Met)	HEXA (V437M +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
Select item 968774	NM_000520.6(HEXA):c.1164C>G (p.Ile388Met)	HEXA (I388M +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
Select item 557082	NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer)	HEXA	Deletion (frameshift variant)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 555024	NM_000520.6(HEXA):c.1087G>A (p.Val363Ile)	HEXA (V363I +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
Select item 3920	NM_000520.6(HEXA):c.1073+1G>A	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease +2 more	GPathogenic/Likely pathogenic
Select item 562219	NM_000520.6(HEXA):c.929_930del (p.Ser310fs)	HEXA (S310fs +1 more)	Microsatellite (frameshift variant +1 more)	Tay-Sachs disease +1 more	GPathogenic
Select item 811723	NM_000520.6(HEXA):c.836C>G (p.Ser279Cys)	HEXA (S279C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 375358	NM_000520.6(HEXA):c.805+1G>C	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease	GPathogenic
Select item 3938	NM_000520.6(HEXA):c.805+1G>A	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease	GPathogenic
Select item 3898	NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	HEXA (G269S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
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 +3 more	GPathogenic/Likely pathogenic
Select item 700042	NM_000520.6(HEXA):c.517C>T (p.Leu173=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 3925	NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)	HEXA (R170W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 93192	NM_000520.6(HEXA):c.497G>A (p.Arg166His)	HEXA (R166H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 374505	NM_000520.6(HEXA):c.459+5G>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease +1 more	GPathogenic/Likely pathogenic
Select item 3904	NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)	HEXA (R137* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 218335	NM_000520.6(HEXA):c.340G>A (p.Glu114Lys)	HEXA (E114K +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 1413219	NM_000520.6(HEXA):c.275A>G (p.Lys92Arg)	HEXA (K103R +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 1035422	NM_000520.6(HEXA):c.238C>A (p.Arg80Ser)	HEXA (R80S)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 371633	NM_000520.6(HEXA):c.82C>T (p.Gln28Ter)	HEXA (Q28*)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 554702	NM_000520.6(HEXA):c.10T>C (p.Ser4Pro)	HEXA (S4P)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance

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Items: 23