C0039373[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3899	NM_000520.6(HEXA):c.1496G>A (p.Arg499His)	HEXA (R499H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 3941	NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)	HEXA (W474C +1 more)	Single nucleotide variant (missense 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 2432445	NM_000520.6(HEXA):c.1333A>G (p.Thr445Ala)	HEXA (T445A +1 more)	Single nucleotide variant (missense variant +1 more)	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 3905	NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)	HEXA (R393* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 555126	NM_000520.6(HEXA):c.1073+41C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GConflicting classifications of pathogenicity
Select item 3920	NM_000520.6(HEXA):c.1073+1G>A	HEXA	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 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 3898	NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	HEXA (G269S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely 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 569012	NM_000520.6(HEXA):c.571-1G>T	HEXA	Single nucleotide variant (splice acceptor variant)	Tay-Sachs disease	GPathogenic
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
Select item 496011	NM_000520.6(HEXA):c.460-1G>T	HEXA	Single nucleotide variant (splice acceptor variant)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 375349	NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)	HEXA (Q106* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 379311	NM_000520.6(HEXA):c.155C>A (p.Ser52Ter)	HEXA (S52*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
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 37712	NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)	BRCA1 (W321* +20 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic