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

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558245	NM_000521.4(HEXB):c.56del (p.Leu19fs)	HEXB (L19fs)	Deletion (frameshift variant +1 more)	Sandhoff disease	GLikely pathogenic
Select item 556033	NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del)	HEXB	Deletion (inframe_deletion +1 more)	Sandhoff disease	GUncertain significance
Select item 558240	NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del)	HEXB	Deletion (inframe_deletion +1 more)	Sandhoff disease	GUncertain significance
Select item 558194	NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del)	HEXB	Deletion (inframe_deletion +1 more)	Sandhoff disease	GUncertain significance
Select item 551537	NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del)	HEXB	Deletion (inframe_deletion +1 more)	Sandhoff disease	GUncertain significance
Select item 550054	NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del)	HEXB	Deletion (intron variant +1 more)	Sandhoff disease	GUncertain significance
Select item 554151	NM_000521.4(HEXB):c.118del (p.Ala40fs)	HEXB (A40fs)	Deletion (frameshift variant +1 more)	Sandhoff disease	GLikely pathogenic
Select item 211144	NM_000521.4(HEXB):c.127G>T (p.Ala43Ser)	HEXB (A43S)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease +3 more	GUncertain significance
Select item 552453	NM_000521.4(HEXB):c.133del (p.Ala45fs)	HEXB (A45fs)	Deletion (frameshift variant +1 more)	Sandhoff disease	GLikely pathogenic
Select item 555683	NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)	HEXB (S49*)	Single nucleotide variant (nonsense +1 more)	Sandhoff disease	GPathogenic/Likely pathogenic
Select item 557707	NM_000521.4(HEXB):c.171del (p.Trp57fs)	HEXB (W57fs)	Deletion (frameshift variant +1 more)	Sandhoff disease	GPathogenic
Select item 554886	NM_000521.4(HEXB):c.230_232del (p.Phe77del)	HEXB (F77del)	Deletion (inframe_deletion +1 more)	Sandhoff disease	GUncertain significance
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 549963	NM_000521.4(HEXB):c.299+1G>A	HEXB	Single nucleotide variant (intron variant +1 more)	Sandhoff disease	GLikely pathogenic
Select item 553126	NM_000521.4(HEXB):c.300-1G>A	HEXB	Single nucleotide variant (splice acceptor variant)	Sandhoff disease	GLikely pathogenic
Select item 557986	NM_000521.4(HEXB):c.333G>A (p.Trp111Ter)	HEXB (W111*)	Single nucleotide variant (nonsense +1 more)	Sandhoff disease	GPathogenic
Select item 551981	NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del)	HEXB	Deletion (inframe_deletion +1 more)	Sandhoff disease	GUncertain significance
Select item 550370	NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla)	HEXB	Deletion (inframe_indel +1 more)	Sandhoff disease	GUncertain significance
Select item 554994	NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)	HEXB (T150P)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease	GConflicting classifications of pathogenicity
Select item 281002	NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)	HEXB (R170*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555416	NM_000521.4(HEXB):c.512-3C>A	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GUncertain significance
Select item 557184	NM_000521.4(HEXB):c.512-1G>T	HEXB	Single nucleotide variant (splice acceptor variant)	Sandhoff disease	GLikely pathogenic
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 554107	NM_000521.4(HEXB):c.558+5G>A	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GConflicting classifications of pathogenicity
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 554601	NM_000521.4(HEXB):c.825del (p.Ile275fs)	HEXB (I50fs +1 more)	Deletion (frameshift variant)	Sandhoff disease	GLikely 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 556276	NM_000521.4(HEXB):c.902-1G>T	HEXB	Single nucleotide variant (splice acceptor variant)	Sandhoff disease	GLikely pathogenic
Select item 557437	NM_000521.4(HEXB):c.965del (p.Ile322fs)	HEXB (I322fs +1 more)	Deletion (frameshift variant)	Sandhoff disease	GPathogenic/Likely pathogenic
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 354135	NM_000521.4(HEXB):c.1082+5G>A	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GPathogenic/Likely pathogenic
Select item 558077	NM_000521.4(HEXB):c.1242G>A (p.Lys414=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GPathogenic/Likely pathogenic
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 554177	NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs)	HEXB (R210fs +1 more)	Microsatellite (frameshift variant)	Sandhoff disease	GPathogenic/Likely pathogenic
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 557658	NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter)	HEXB (Y463* +1 more)	Single nucleotide variant (nonsense)	Sandhoff disease	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 553888	NM_000521.4(HEXB):c.1418-12_1418del	HEXB	Deletion (splice acceptor variant)	Sandhoff disease	GLikely pathogenic
Select item 553043	NM_000521.4(HEXB):c.1425GAAACA[1] (p.476KQ[1])	HEXB	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
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 3879	NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)	HEXB (R505Q +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease	GPathogenic/Likely pathogenic
Select item 552444	NM_000521.4(HEXB):c.1520del (p.Ser507fs)	HEXB (S507fs +1 more)	Deletion (frameshift variant)	Sandhoff disease	GLikely pathogenic
Select item 194180	NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)	HEXB (R512fs +1 more)	Microsatellite (frameshift variant)	Sandhoff disease +1 more	GConflicting classifications of pathogenicity
Select item 553993	NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs)	HEXB (D521fs +1 more)	Microsatellite (frameshift variant)	Sandhoff disease	GPathogenic/Likely pathogenic
Select item 557927	NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer)	HEXB	Duplication (nonsense)	Sandhoff disease	GPathogenic/Likely pathogenic
Select item 435415	NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)	HEXB (R533C +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease	GPathogenic
Select item 550455	NM_000521.4(HEXB):c.1611_1613+2del	HEXB	Deletion (splice donor variant)	Sandhoff disease	GPathogenic/Likely pathogenic
Select item 555459	NM_000521.4(HEXB):c.1613+15_1613+18dup	HEXB	Duplication (intron variant)	Sandhoff disease	GConflicting classifications of pathogenicity
Select item 554354	NM_000521.4(HEXB):c.1614-25_1614-7dup	HEXB	Duplication (intron variant)	Sandhoff disease	GUncertain significance
Select item 496985	NM_000521.4(HEXB):c.1614-16_1615dup	HEXB	Duplication (splice acceptor variant)	Sandhoff disease +1 more	GUncertain significance
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 556795	NM_000521.4(HEXB):c.1614-8_1614-6dup	HEXB	Duplication (intron variant)	Sandhoff disease	GUncertain significance
Select item 550133	NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys)	HEXB (R539C +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease	GUncertain significance
Select item 555685	NM_000521.4(HEXB):c.1627_1638del (p.Ala543_Leu546del)	HEXB	Deletion (inframe_deletion)	Sandhoff disease	GUncertain significance
Select item 167176	NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr)	HEXB (C551Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 551860	NM_000521.4(HEXB):c.*4dup (p.Ter557=)	HEXB	Duplication (no sequence alteration)	Sandhoff disease +1 more	GUncertain significance
Select item 549863	NC_000005.10:g.74721699G>A	GFM2, HEXB (Q766* +2 more)	Single nucleotide variant (nonsense +1 more)	Sandhoff disease	GUncertain significance
Select item 557797	NC_000005.10:g.74721757dup	GFM2, HEXB (T779fs +2 more)	Duplication (frameshift variant +1 more)	Sandhoff disease	GUncertain significance
Select item 555312	NC_000005.10:g.74721765G>A	GFM2, HEXB (R697* +2 more)	Single nucleotide variant (nonsense +1 more)	Sandhoff disease	GUncertain significance

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Items: 60