"GeneDx"[submitter] AND "HEXB"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 680593	NM_000521.3(HEXB):c.-383A>T	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680595	NM_000521.3(HEXB):c.-382T>G	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680596	NM_000521.3(HEXB):c.-287G>C	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275326	NM_000521.4(HEXB):c.-175G>A	HEXB	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 369506	NM_000521.4(HEXB):c.-126C>T	HEXB	Single nucleotide variant (intron variant +1 more)	Sandhoff disease +1 more	GBenign
Select item 369507	NM_000521.4(HEXB):c.-122del	HEXB	Deletion (intron variant +1 more)	Sandhoff disease +1 more	GBenign
Select item 93194	NM_000521.4(HEXB):c.115del (p.Val39fs)	HEXB (V39fs)	Deletion (frameshift variant +1 more)	Sandhoff disease +1 more	GPathogenic
Select item 2189833	NM_000521.4(HEXB):c.130C>T (p.Arg44Trp)	HEXB (R44W)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease +1 more	GUncertain significance
Select item 2282556	NM_000521.4(HEXB):c.187G>A (p.Val63Met)	HEXB (V63M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 129224	NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)	HEXB (L72F)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease +2 more	GBenign/Likely benign
Select item 373128	NM_000521.4(HEXB):c.274_277dup (p.Leu93fs)	HEXB (L93fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 703484	NM_000521.4(HEXB):c.276C>T (p.Thr92=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease +1 more	GBenign/Likely benign
Select item 265360	NM_000521.4(HEXB):c.298del (p.Arg100fs)	HEXB (R100fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1230814	NM_000521.4(HEXB):c.299+75C>A	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680598	NM_000521.4(HEXB):c.299+278G>A	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239387	NM_000521.4(HEXB):c.300-276_300-275insA	HEXB	Insertion (intron variant)	not provided	GBenign
Select item 1231863	NM_000521.4(HEXB):c.300-240A>G	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269254	NM_000521.4(HEXB):c.300-201C>A	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
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 specified +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 provided +2 more	GBenign
Select item 1278759	NM_000521.4(HEXB):c.445+59T>C	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681700	NM_000521.4(HEXB):c.445+236T>C	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269143	NM_000521.4(HEXB):c.445+280A>C	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238804	NM_000521.4(HEXB):c.446-167C>T	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
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 1220131	NM_000521.4(HEXB):c.512-119A>G	HEXB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185273	NM_000521.4(HEXB):c.512-112T>G	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease +1 more	GBenign
Select item 280067	NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)	HEXB (Y184*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 256360	NM_000521.4(HEXB):c.558+45G>A	HEXB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 93202	NM_000521.4(HEXB):c.619A>G (p.Ile207Val)	HEXB (I207V)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease +2 more	GBenign
Select item 1198416	NM_000521.4(HEXB):c.669+281C>T	HEXB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283588	NM_000521.4(HEXB):c.670-274A>T	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274742	NM_000521.4(HEXB):c.670-107dup	HEXB	Duplication (intron variant)	not provided	GBenign
Select item 1230170	NM_000521.4(HEXB):c.670-107del	HEXB	Deletion (intron variant)	not provided	GBenign
Select item 1199117	NM_000521.4(HEXB):c.670-108_670-107del	HEXB	Deletion (intron variant)	not provided	GLikely benign
Select item 518368	NM_000521.4(HEXB):c.715G>A (p.Val239Ile)	HEXB (V14I +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease +2 more	GUncertain significance
Select item 1212534	NM_000521.4(HEXB):c.771+215A>C	HEXB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242205	NM_000521.4(HEXB):c.772-310G>A	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219128	NM_000521.4(HEXB):c.772-132T>G	HEXB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238198	NM_000521.4(HEXB):c.772-39C>T	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 93203	NM_000521.4(HEXB):c.772-4A>G	HEXB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 381669	NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)	HEXB (Y266D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 373460	NM_000521.4(HEXB):c.838T>A (p.Leu280Ile)	HEXB (L280I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623308	NM_000521.4(HEXB):c.841C>T (p.Arg281Ter)	HEXB (R281* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3887	NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)	HEXB (R284* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 256361	NM_000521.4(HEXB):c.902-48del	HEXB	Deletion (intron variant)	not specified +1 more	GBenign
Select item 280975	NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)	HEXB (S116fs +1 more)	Deletion (frameshift variant)	Sandhoff disease +1 more	GPathogenic
Select item 129223	NM_000521.4(HEXB):c.1051T>C (p.Leu351=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease +1 more	GBenign/Likely benign
Select item 152796	GRCh38/hg38 5q13.3(chr5:74715712-74767984)x3	GFM2, HEXB +2 more	Copy number gain	See cases	GUncertain significance
Select item 1187838	NM_000521.4(HEXB):c.1082+26del	HEXB	Deletion (intron variant)	not provided	GLikely benign
Select item 1676863	NM_000521.4(HEXB):c.1082+25_1082+26insA	HEXB	Insertion (intron variant)	not provided	GLikely benign
Select item 1240808	NM_000521.4(HEXB):c.1082+40dup	HEXB	Duplication (intron variant)	not provided	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 1706738	NM_000521.4(HEXB):c.1082+40del	HEXB	Deletion (intron variant)	not provided	GLikely benign
Select item 1273201	NM_000521.4(HEXB):c.1082+301T>G	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195485	NM_000521.4(HEXB):c.1169+89T>A	HEXB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193989	NM_000521.4(HEXB):c.1169+242C>T	HEXB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223630	NM_000521.4(HEXB):c.1242+217G>A	HEXB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 93197	NM_000521.4(HEXB):c.1243-2A>G	HEXB	Single nucleotide variant (splice acceptor 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)	Sandhoff disease +3 more	GPathogenic/Likely pathogenic
Select item 851972	NM_000521.4(HEXB):c.1294dup (p.Glu432fs)	HEXB (E207fs +1 more)	Duplication (frameshift variant)	Sandhoff disease +1 more	GPathogenic/Likely pathogenic
Select item 3363218	NM_000521.4(HEXB):c.1340C>T (p.Ala447Val)	HEXB (A222V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3877	NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser)	HEXB (Y456S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 670549	NM_000521.4(HEXB):c.1417+229T>C	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
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 975004	NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp)	HEXB (R280W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1526311	NM_000521.4(HEXB):c.1614-63_1614-36del	HEXB	Deletion (intron variant)	not provided	GBenign
Select item 1219979	NM_000521.4(HEXB):c.1614-66A>C	HEXB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 565742	NM_000521.4(HEXB):c.1614-16_1622dup	HEXB	Duplication (splice acceptor variant)	not provided +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 423332	NM_000521.4(HEXB):c.1630C>A (p.Gln544Lys)	HEXB (Q544K +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease +1 more	GUncertain significance
Select item 845142	NM_000521.4(HEXB):c.1637T>C (p.Leu546Pro)	GFM2, HEXB (L321P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 354140	NM_000521.4(HEXB):c.82_83del	GFM2, HEXB	Deletion (3 prime UTR variant +1 more)	Sandhoff disease +1 more	GBenign/Likely benign

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Items: 76