STX1B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 150706	GRCh38/hg38 16p11.2(chr16:30960404-31066796)x1	HSD3B7, LOC130058885 +6 more	Copy number loss	See cases	GLikely benign
Select item 2498186	NM_052874.5(STX1B):c.*3467dup	HSD3B7, STX1B	Duplication (3 prime UTR variant)	Neonatal hemochromatosis	GUncertain significance
Select item 2498187	NM_052874.5(STX1B):c.*3248A>G	HSD3B7, STX1B	Single nucleotide variant (3 prime UTR variant)	Neonatal hemochromatosis	GLikely benign
Select item 1216622	NM_052874.5(STX1B):c.*271C>T	STX1B	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1267591	NM_052874.5(STX1B):c.*179dup	STX1B	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1240778	NM_052874.5(STX1B):c.178_179dup	STX1B	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1267927	NM_052874.5(STX1B):c.*179del	STX1B	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1204794	NM_052874.5(STX1B):c.*174C>T	STX1B	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1200110	NM_052874.5(STX1B):c.171_172insGC	STX1B	Insertion (3 prime UTR variant)	not provided	GLikely benign
Select item 1291868	NM_052874.5(STX1B):c.127_128insTCCTCCACCCC	STX1B	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 475337	NC_000016.10:g.(?_30992801)_(31068051_?)del	LOC130058885, LOC130058886 +4 more	Deletion	Generalized epilepsy with febrile seizures plus, type 9	GPathogenic
Select item 1219053	NM_052874.5(STX1B):c.*9dup	STX1B	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 1033022	NM_052874.5(STX1B):c.*9C>G	STX1B	Single nucleotide variant (3 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1033021	NM_052874.5(STX1B):c.*4C>A	STX1B	Single nucleotide variant (3 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1176349	NM_052874.5(STX1B):c.865T>C (p.Ter289Gln)	STX1B	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1085345	NM_052874.5(STX1B):c.864G>A (p.Leu288=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1160138	NM_052874.5(STX1B):c.862T>C (p.Leu288=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1220518	NM_052874.5(STX1B):c.861C>A (p.Gly287=)	STX1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 715162	NM_052874.5(STX1B):c.861C>T (p.Gly287=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GBenign
Select item 757686	NM_052874.5(STX1B):c.855G>A (p.Thr285=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9 +1 more	GLikely benign
Select item 2044948	NM_052874.5(STX1B):c.854C>T (p.Thr285Met)	STX1B (T285M)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 961584	NM_052874.5(STX1B):c.852dup (p.Thr285fs)	STX1B (T285fs)	Duplication (frameshift variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely pathogenic
Select item 963594	NM_052874.5(STX1B):c.852del (p.Thr285fs)	STX1B (T285fs)	Deletion (frameshift variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 475343	NM_052874.5(STX1B):c.852G>A (p.Gly284=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9 +1 more	GLikely benign
Select item 1487125	NM_052874.5(STX1B):c.850G>A (p.Gly284Arg)	STX1B (G284R)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1155185	NM_052874.5(STX1B):c.849G>C (p.Gly283=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2529653	NM_052874.5(STX1B):c.848G>C (p.Gly283Ala)	STX1B (G283A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 653738	NM_052874.5(STX1B):c.848G>T (p.Gly283Val)	STX1B (G283V)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1508404	NM_052874.5(STX1B):c.847G>C (p.Gly283Arg)	STX1B (G283R)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 664636	NM_052874.5(STX1B):c.845T>A (p.Ile282Asn)	STX1B (I282N)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 265262	NM_052874.5(STX1B):c.845T>C (p.Ile282Thr)	STX1B (I282T)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9 +3 more	GConflicting classifications of pathogenicity
Select item 656407	NM_052874.5(STX1B):c.841T>C (p.Ser281Pro)	STX1B (S281P)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 586687	NM_052874.5(STX1B):c.840A>G (p.Ser280=)	STX1B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 542095	NM_052874.5(STX1B):c.837G>A (p.Ala279=)	STX1B	Single nucleotide variant (synonymous variant)	STX1B-related disorder +3 more	GBenign/Likely benign
Select item 849864	NM_052874.5(STX1B):c.833T>C (p.Leu278Ser)	STX1B (L278S)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1079368	NM_052874.5(STX1B):c.828G>T (p.Val276=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 569605	NM_052874.5(STX1B):c.828G>A (p.Val276=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GBenign
Select item 656366	NM_052874.5(STX1B):c.823G>A (p.Gly275Arg)	STX1B (G275R)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely pathogenic
Select item 2627866	NM_052874.5(STX1B):c.821T>C (p.Leu274Pro)	STX1B (L274P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2748620	NM_052874.5(STX1B):c.815del (p.Val272fs)	STX1B (V272fs)	Deletion (frameshift variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1487967	NM_052874.5(STX1B):c.805A>C (p.Ile269Leu)	STX1B (I269L)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1704806	NM_052874.5(STX1B):c.799A>G (p.Ile267Val)	STX1B (I267V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1719341	NM_052874.5(STX1B):c.798G>C (p.Met266Ile)	STX1B (M266I)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1006178	NM_052874.5(STX1B):c.787-3C>A	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2798657	NM_052874.5(STX1B):c.787-13_787-12del	STX1B	Microsatellite (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1585462	NM_052874.5(STX1B):c.787-15_787-13del	STX1B	Microsatellite (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 3014763	NM_052874.5(STX1B):c.787-15C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1593386	NM_052874.5(STX1B):c.786+16G>A	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1582549	NM_052874.5(STX1B):c.786+15C>G	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1349074	NM_052874.5(STX1B):c.786+15C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1145700	NM_052874.5(STX1B):c.786+9G>C	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 586686	NM_052874.5(STX1B):c.786+7G>A	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9 +2 more	GBenign/Likely benign
Select item 475342	NM_052874.5(STX1B):c.786+6C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1044888	NM_052874.5(STX1B):c.786+5G>A	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2811860	NM_052874.5(STX1B):c.786+1G>T	STX1B	Single nucleotide variant (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 9	GPathogenic
Select item 2693031	NM_052874.5(STX1B):c.786+1G>A	STX1B	Single nucleotide variant (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 9	GPathogenic
Select item 862348	NM_052874.5(STX1B):c.785G>A (p.Arg262Lys)	STX1B (R262K)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 623885	NM_052874.5(STX1B):c.783G>A (p.Arg261=)	STX1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 571082	NM_052874.5(STX1B):c.782G>A (p.Arg261Gln)	STX1B (R261Q)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1925818	NM_052874.5(STX1B):c.781C>T (p.Arg261Trp)	STX1B (R261W)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 710233	NM_052874.5(STX1B):c.780C>G (p.Ala260=)	STX1B	Single nucleotide variant (synonymous variant)	STX1B-related disorder +3 more	GLikely benign
Select item 1001090	NM_052874.5(STX1B):c.774C>T (p.Ser258=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 985016	NM_052874.5(STX1B):c.773G>A (p.Ser258Asn)	STX1B (S258N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 985094	NM_052874.5(STX1B):c.768T>A (p.Tyr256Ter)	STX1B (Y256*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 1315270	NM_052874.5(STX1B):c.766T>C (p.Tyr256His)	STX1B (Y256H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391808	NM_052874.5(STX1B):c.755A>T (p.Lys252Ile)	STX1B (K252I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1133945	NM_052874.5(STX1B):c.741G>C (p.Val247=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 585121	NM_052874.5(STX1B):c.736G>C (p.Ala246Pro)	STX1B (A246P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 862668	NM_052874.5(STX1B):c.734G>A (p.Arg245Gln)	STX1B (R245Q)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 590057	NM_052874.5(STX1B):c.733C>T (p.Arg245Ter)	STX1B (R245*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1147639	NM_052874.5(STX1B):c.726C>T (p.Tyr242=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1344576	NM_052874.5(STX1B):c.716C>T (p.Ser239Phe)	STX1B (S239F)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 451862	NM_052874.5(STX1B):c.715T>C (p.Ser239Pro)	STX1B (S239P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 623886	NM_052874.5(STX1B):c.713A>G (p.His238Arg)	STX1B (H238R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916313	NM_052874.5(STX1B):c.712C>A (p.His238Asn)	STX1B (H238N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691871	NM_052874.5(STX1B):c.701_702insACATTGACCG (p.Tyr234Ter)	STX1B (Y234*)	Insertion (nonsense)	Generalized epilepsy with febrile seizures plus, type 9	GLikely pathogenic
Select item 2580528	NM_052874.5(STX1B):c.699G>T (p.Glu233Asp)	STX1B (E233D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1756420	NM_052874.5(STX1B):c.697G>A (p.Glu233Lys)	STX1B (E233K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2697274	NM_052874.5(STX1B):c.696C>G (p.Ile232Met)	STX1B (I232M)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 794429	NM_052874.5(STX1B):c.696C>T (p.Ile232=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1010415	NM_052874.5(STX1B):c.692G>A (p.Arg231His)	STX1B (R231H)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 853246	NM_052874.5(STX1B):c.691C>T (p.Arg231Cys)	STX1B (R231C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 803252	NM_052874.5(STX1B):c.686_688del (p.Ile229_Asp230delinsAsn)	STX1B	Deletion (inframe_indel)	Generalized epilepsy with febrile seizures plus, type 9	GLikely pathogenic
Select item 2844145	NM_052874.5(STX1B):c.687T>C (p.Ile229=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2498659	NM_052874.5(STX1B):c.683T>C (p.Met228Thr)	STX1B (M228T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574119	NM_052874.5(STX1B):c.682A>G (p.Met228Val)	HSD3B7, STX1B (M228V)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 162399	NM_052874.5(STX1B):c.676G>C (p.Gly226Arg)	STX1B (G226R)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GPathogenic
Select item 963748	NM_052874.5(STX1B):c.676-2A>G	STX1B	Single nucleotide variant (splice acceptor variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely pathogenic
Select item 2198527	NM_052874.5(STX1B):c.676-7_676-4del	STX1B	Microsatellite (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2964493	NM_052874.5(STX1B):c.676-6C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2008812	NM_052874.5(STX1B):c.676-8G>A	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2001459	NM_052874.5(STX1B):c.676-17G>A	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2702812	NM_052874.5(STX1B):c.675+17C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2147823	NM_052874.5(STX1B):c.675+11T>C	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1100059	NM_052874.5(STX1B):c.663C>T (p.Leu221=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9 +1 more	GLikely benign
Select item 1803076	NM_052874.5(STX1B):c.655_660dup (p.Met220_Leu221insAlaMet)	STX1B	Duplication (inframe_insertion)	Generalized epilepsy with febrile seizures plus, type 9	GLikely pathogenic

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