"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "HEXB"[gene - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 762762	NM_000521.4(HEXB):c.69G>A (p.Leu23=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease +1 more	GLikely benign
Select item 2118134	NM_000521.4(HEXB):c.117G>T (p.Val39=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 129224	NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)	HEXB (L72F)	Single nucleotide variant (missense variant +1 more)	HEXB-related condition +3 more	GBenign/Likely benign
Select item 916271	NM_000521.4(HEXB):c.249C>T (p.Pro83=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1125993	NM_000521.4(HEXB):c.276C>A (p.Thr92=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 702997	NM_000521.4(HEXB):c.383T>G (p.Leu128Arg)	HEXB (L128R)	Single nucleotide variant (missense variant +1 more)	HEXB-related condition +2 more	GLikely benign
Select item 1989925	NM_000521.4(HEXB):c.632G>C (p.Arg211Thr)	HEXB (R211T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3067748	NM_000521.4(HEXB):c.732C>A (p.Phe244Leu)	HEXB (F19L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289205	NM_000521.4(HEXB):c.833C>T (p.Ala278Val)	HEXB (A278V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1012509	NM_000521.4(HEXB):c.876del (p.His294fs)	HEXB (H294fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1997846	NM_000521.4(HEXB):c.1005A>G (p.Thr335=)	HEXB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 129223	NM_000521.4(HEXB):c.1051T>C (p.Leu351=)	HEXB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1012510	NM_000521.4(HEXB):c.1165dup (p.Gln389fs)	HEXB (Q164fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3878	NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	HEXB (P417L +1 more)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 372685	NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)	HEXB (G473S +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease +1 more	GPathogenic/Likely pathogenic
Select item 557105	NM_000521.4(HEXB):c.1417+5G>A	HEXB	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 527971	NM_000521.4(HEXB):c.1509-26G>A	HEXB	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1083141	NM_000521.4(HEXB):c.1536A>G (p.Arg512=)	HEXB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1335583	NM_000521.4(HEXB):c.1586T>G (p.Leu529Arg)	HEXB (L304R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 93199	NM_000521.4(HEXB):c.1614-14C>A	HEXB	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 809771	NM_000521.4(HEXB):c.1667T>C (p.Met556Thr)	HEXB (M331T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 21