"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "HEXA"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3906	NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)	HEXA (R504C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GPathogenic/Likely pathogenic
Select item 2139666	NM_000520.6(HEXA):c.1487C>G (p.Ala496Gly)	HEXA (A496G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 918075	NM_000520.6(HEXA):c.1444G>T (p.Glu482Ter)	HEXA (E482* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease +1 more	GPathogenic
Select item 3892	NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)	HEXA (E482K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
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 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 841751	NM_000520.6(HEXA):c.1264C>G (p.Leu422Val)	HEXA (L422V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 93188	NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp)	HEXA (N399D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 972237	NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr)	HEXA (V363Y +1 more)	Indel (missense variant)	Tay-Sachs disease +2 more	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 1441704	NM_000520.6(HEXA):c.884A>G (p.Asn295Ser)	HEXA (N306S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 3927	NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)	HEXA (K197T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 453185	NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)	HEXA (W78*)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease +1 more	GPathogenic/Likely pathogenic
Select item 2018597	NM_000520.6(HEXA):c.80C>T (p.Pro27Leu)	HEXA (P27L)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	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
Select item 317049	NM_000520.6(HEXA):c.-4G>A	HEXA	Single nucleotide variant (5 prime UTR variant +1 more)	Tay-Sachs disease +1 more	GConflicting classifications of pathogenicity

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Items: 21