"PreventionGenetics, part of Exact Sciences"[submitter] AND "HEXB"[gen - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129224	NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)	HEXB (L72F)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease +3 more	GBenign/Likely benign
Select item 256357	NM_000521.4(HEXB):c.300-46T>A	HEXB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 256356	NM_000521.4(HEXB):c.300-32C>T	HEXB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3874	NM_000521.4(HEXB):c.362A>G (p.Lys121Arg)	HEXB (K121R)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 702997	NM_000521.4(HEXB):c.383T>G (p.Leu128Arg)	HEXB (L128R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 256358	NM_000521.4(HEXB):c.445+1G>C	HEXB	Single nucleotide variant (splice donor variant)	Sandhoff disease	GPathogenic
Select item 256359	NM_000521.4(HEXB):c.446-13A>G	HEXB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 235583	NM_000521.4(HEXB):c.449C>A (p.Thr150Asn)	HEXB (T150N)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 256360	NM_000521.4(HEXB):c.558+45G>A	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease +2 more	GBenign
Select item 93202	NM_000521.4(HEXB):c.619A>G (p.Ile207Val)	HEXB (I207V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 93203	NM_000521.4(HEXB):c.772-4A>G	HEXB	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 256361	NM_000521.4(HEXB):c.902-48del	HEXB	Deletion (intron variant)	not specified +1 more	GBenign
Select item 256354	NM_000521.4(HEXB):c.1082+26T>A	HEXB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 256355	NM_000521.4(HEXB):c.1258A>G (p.Ile420Val)	HEXB (I420V +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease +2 more	GBenign
Select item 789283	NM_000521.4(HEXB):c.1269A>G (p.Val423=)	HEXB	Single nucleotide variant (synonymous variant)	HEXB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2156035	NM_000521.4(HEXB):c.1508+6G>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease +1 more	GConflicting classifications of pathogenicity
Select item 3042566	NM_000521.4(HEXB):c.1509-24G>A	HEXB	Single nucleotide variant (intron variant)	HEXB-related disorder	GBenign
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 3051016	NM_000521.4(HEXB):c.1614-1G>A	HEXB	Single nucleotide variant (splice acceptor variant)	HEXB-related disorder	GLikely benign

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Items: 20