C0039373[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188954	NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)	HEXA (R510* +1 more)	Single nucleotide variant (nonsense)	Tay-Sachs disease +1 more	GPathogenic
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 1726039	NM_000520.6(HEXA):c.1342C>T (p.Gln448Ter)	HEXA (Q448* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 1726551	NM_000520.6(HEXA):c.1294A>T (p.Lys432Ter)	HEXA (K432* +1 more)	Single nucleotide variant (nonsense)	Tay-Sachs disease	GLikely pathogenic
Select item 3889	NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	HEXA (Y427fs +1 more)	Duplication (frameshift variant)	Tay-Sachs disease +3 more	GPathogenic
Select item 1724507	NM_000520.6(HEXA):c.1260G>A (p.Trp420Ter)	HEXA (W420* +1 more)	Single nucleotide variant (nonsense)	Tay-Sachs disease	GLikely pathogenic
Select item 554678	NM_000520.6(HEXA):c.1204_1206del (p.Lys402del)	HEXA (K402del +1 more)	Deletion (inframe_deletion)	Tay-Sachs disease	GUncertain significance
Select item 983874	NM_000520.6(HEXA):c.1123G>T (p.Glu375Ter)	HEXA (E375* +1 more)	Single nucleotide variant (nonsense)	Tay-Sachs disease	GLikely pathogenic
Select item 983875	NM_000520.6(HEXA):c.1120C>T (p.Gln374Ter)	HEXA (Q374* +1 more)	Single nucleotide variant (nonsense)	Tay-Sachs disease	GLikely pathogenic
Select item 983876	NM_000520.6(HEXA):c.1119G>A (p.Trp373Ter)	HEXA (W373* +1 more)	Single nucleotide variant (nonsense)	Tay-Sachs disease	GLikely pathogenic
Select item 983877	NM_000520.6(HEXA):c.1118G>A (p.Trp373Ter)	HEXA (W373* +1 more)	Single nucleotide variant (nonsense)	Tay-Sachs disease	GLikely pathogenic
Select item 1453693	NM_000520.6(HEXA):c.1114del (p.Val372fs)	HEXA (V372fs +1 more)	Deletion (frameshift variant)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 983878	NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter)	HEXA (Y366* +1 more)	Single nucleotide variant (nonsense)	Tay-Sachs disease	GPathogenic/Likely pathogenic
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 984036	NM_000520.6(HEXA):c.1024A>T (p.Lys342Ter)	HEXA (K342* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 984037	NM_000520.6(HEXA):c.958G>T (p.Gly320Ter)	HEXA (G320* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 1725549	NM_000520.6(HEXA):c.844G>T (p.Glu282Ter)	HEXA (E282* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 1725249	NM_000520.6(HEXA):c.822_823del (p.Thr275fs)	HEXA (T275fs +1 more)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 1725034	NM_000520.6(HEXA):c.814G>T (p.Gly272Ter)	HEXA (G272* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 209160	NM_000520.6(HEXA):c.806-7G>A	HEXA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1724057	NM_000520.6(HEXA):c.766G>T (p.Glu256Ter)	HEXA (E256* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 522667	NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)	HEXA (R252C +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 1724687	NM_000520.6(HEXA):c.735C>A (p.Tyr245Ter)	HEXA (Y245* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 1725324	NM_000520.6(HEXA):c.718A>T (p.Lys240Ter)	HEXA (K240* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 1724411	NM_000520.6(HEXA):c.609G>A (p.Trp203Ter)	HEXA (W203* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely 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 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 496011	NM_000520.6(HEXA):c.460-1G>T	HEXA	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 984038	NM_000520.6(HEXA):c.451G>T (p.Glu151Ter)	HEXA (E151* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 1725116	NM_000520.6(HEXA):c.421_422insAGGAGCC (p.Thr141fs)	HEXA (T141fs +1 more)	Insertion (frameshift variant +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 1726761	NM_000520.6(HEXA):c.400_401del (p.Gly134fs)	HEXA (G134fs +1 more)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 984039	NM_000520.6(HEXA):c.370C>T (p.Gln124Ter)	HEXA (Q124* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 1724560	NM_000520.6(HEXA):c.314del (p.Asn105fs)	HEXA (N105fs +1 more)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 1726458	NM_000520.6(HEXA):c.288del (p.Val97fs)	HEXA (V108fs +1 more)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 984040	NM_000520.6(HEXA):c.284T>A (p.Leu95Ter)	HEXA (L106* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 1726682	NM_000520.6(HEXA):c.207_208del (p.Asp70fs)	HEXA (D70fs)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 1726744	NM_000520.6(HEXA):c.103del (p.Gln35fs)	HEXA (Q35fs)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 830311	GRCh37/hg19 15q23(chr15:72662932-72670877)	HEXA, HEXA-AS1	Copy number loss	Tay-Sachs disease	GPathogenic

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Items: 40