ClinVar for Gene (Select 6324) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3232421	NM_001037.5(SCN1B):c.60C>G (p.Gly20=)	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3232420	NM_001037.5(SCN1B):c.-1C>A	SCN1B	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 3068202	NM_001037.5(SCN1B):c.448+63T>C	SCN1B (W171R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 52	GUncertain significance
Select item 3065198	NM_001037.5(SCN1B):c.448+349del	SCN1B (G266fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 52	GLikely pathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3033894	NM_001037.5(SCN1B):c.251A>G (p.Glu84Gly)	SCN1B (E51G +1 more)	Single nucleotide variant (missense variant)	SCN1B-related disorder	GUncertain significance
Select item 3020470	NM_001037.5(SCN1B):c.591-8C>T	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GUncertain significance
Select item 3019895	NM_001037.5(SCN1B):c.77C>T (p.Ser26Leu)	SCN1B (S26L)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 3017364	NM_001037.5(SCN1B):c.207+20G>A	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GLikely benign
Select item 3013510	NM_001037.5(SCN1B):c.448+233G>A	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 5	GLikely benign
Select item 3012915	NM_001037.5(SCN1B):c.339C>T (p.Tyr113=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GLikely benign
Select item 3012553	NM_001037.5(SCN1B):c.448+135G>T	SCN1B (E195*)	Single nucleotide variant (nonsense +1 more)	Brugada syndrome 5	GUncertain significance
Select item 3011809	NM_001037.5(SCN1B):c.448+210C>A	SCN1B (P220T)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 3005055	NM_001037.5(SCN1B):c.238C>T (p.Leu80=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GLikely benign
Select item 2999255	NM_001037.5(SCN1B):c.448+17C>T	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 5	GLikely benign
Select item 2999047	NM_001037.5(SCN1B):c.448+111C>A	SCN1B (R187S)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2985977	NM_001037.5(SCN1B):c.634A>C (p.Thr212Pro)	SCN1B (T212P +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 2975580	NM_001037.5(SCN1B):c.448+152C>T	SCN1B	Single nucleotide variant (intron variant +1 more)	Brugada syndrome 5	GLikely benign
Select item 2974517	NM_001037.5(SCN1B):c.448+219C>T	SCN1B (H223Y)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2962878	NM_001037.5(SCN1B):c.389A>C (p.Glu130Ala)	SCN1B (E130A +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 2955185	NM_001037.5(SCN1B):c.207+14G>C	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GLikely benign
Select item 2917125	NM_001037.5(SCN1B):c.41-11T>C	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GLikely benign
Select item 2917078	NM_001037.5(SCN1B):c.330T>C (p.Asn110=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GLikely benign
Select item 2916815	NM_001037.5(SCN1B):c.448+55G>C	SCN1B (R168T)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2915927	NM_001037.5(SCN1B):c.448+36C>T	SCN1B (H162Y)	Single nucleotide variant (intron variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2908464	NM_001037.5(SCN1B):c.123C>T (p.Ile41=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GLikely benign
Select item 2895890	NM_001037.5(SCN1B):c.448+135G>A	SCN1B (E195K)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2891167	NM_001037.5(SCN1B):c.3G>A (p.Met1Ile)	SCN1B (M1I)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GPathogenic
Select item 2886290	NM_001037.5(SCN1B):c.448+154G>A	SCN1B (C201Y)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2884492	NM_001037.5(SCN1B):c.33G>C (p.Ala11=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GLikely benign
Select item 2874550	NM_001037.5(SCN1B):c.189C>G (p.Gly63=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GLikely benign
Select item 2867621	NM_001037.5(SCN1B):c.448+115C>T	SCN1B (P188L)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2864474	NM_001037.5(SCN1B):c.448+71A>G	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 5	GLikely benign
Select item 2861302	NM_001037.5(SCN1B):c.448+41G>A	SCN1B	Single nucleotide variant (intron variant +1 more)	Brugada syndrome 5	GLikely benign
Select item 2851148	NM_001037.5(SCN1B):c.448+342T>A	SCN1B (S264T)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2849352	NM_001037.5(SCN1B):c.527C>T (p.Ala176Val)	SCN1B (A176V +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 2845957	NM_001037.5(SCN1B):c.448+262G>T	SCN1B (C237F)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2843646	NM_001037.5(SCN1B):c.239T>C (p.Leu80Pro)	SCN1B (L47P +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 2842665	NM_001037.5(SCN1B):c.448+288T>C	SCN1B (S246P)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2840785	NM_001037.5(SCN1B):c.167A>G (p.Glu56Gly)	SCN1B (E23G +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 2830553	NM_001037.5(SCN1B):c.448+105G>C	SCN1B (A185P)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2823412	NM_001037.5(SCN1B):c.105C>T (p.Thr35=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GLikely benign
Select item 2816307	NM_001037.5(SCN1B):c.109A>C (p.Lys37Gln)	SCN1B (K37Q +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 2813407	NM_001037.5(SCN1B):c.399G>A (p.Glu133=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GLikely benign
Select item 2812513	NM_001037.5(SCN1B):c.448+305T>C	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 5	GLikely benign
Select item 2799681	NM_001037.5(SCN1B):c.449-5T>C	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GUncertain significance
Select item 2792916	NM_001037.5(SCN1B):c.504G>A (p.Val168=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GUncertain significance
Select item 2782657	NM_001037.5(SCN1B):c.286C>A (p.Arg96=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GLikely benign
Select item 2775571	NM_001037.5(SCN1B):c.517T>C (p.Trp173Arg)	SCN1B (W140R +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 2770750	NM_001037.5(SCN1B):c.41-19G>A	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GLikely benign
Select item 2768937	NM_001037.5(SCN1B):c.448+1G>A	SCN1B (G150D)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2766847	NM_001037.5(SCN1B):c.147C>A (p.Thr49=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GLikely benign
Select item 2762136	NM_001037.5(SCN1B):c.94_95insC (p.Tyr32fs)	SCN1B (Y32fs)	Insertion (frameshift variant +1 more)	Brugada syndrome 5	GPathogenic
Select item 2760668	NM_001037.5(SCN1B):c.41-4dup	SCN1B	Duplication (intron variant)	Brugada syndrome 5	GLikely benign
Select item 2758106	NM_001037.5(SCN1B):c.448+210C>T	SCN1B (P220S)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2757849	NM_001037.5(SCN1B):c.520C>T (p.Leu174Phe)	SCN1B (L174F +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 2744883	NM_001037.5(SCN1B):c.564C>T (p.Ala188=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GUncertain significance
Select item 2744543	NM_001037.5(SCN1B):c.448+111C>G	SCN1B (R187G)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2740253	NM_001037.5(SCN1B):c.39G>C (p.Leu13=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GUncertain significance
Select item 2739461	NM_001037.5(SCN1B):c.448+120C>A	SCN1B (Q190K)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2739391	NM_001037.5(SCN1B):c.591-5dup	SCN1B	Duplication (intron variant)	Brugada syndrome 5	GUncertain significance
Select item 2739234	NM_001037.5(SCN1B):c.448+135dup	SCN1B (E195fs)	Duplication (frameshift variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2734035	NM_001037.5(SCN1B):c.430A>G (p.Ile144Val)	SCN1B (I144V +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 2729750	NM_001037.5(SCN1B):c.448+287G>C	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 5	GLikely benign
Select item 2728854	NM_001037.5(SCN1B):c.105del (p.Phe36fs)	SCN1B (F36fs +1 more)	Deletion (frameshift variant)	Brugada syndrome 5	GPathogenic
Select item 2728853	NM_001037.5(SCN1B):c.448+113C>G	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 5	GLikely benign
Select item 2728379	NM_001037.5(SCN1B):c.59dup (p.Cys21fs)	SCN1B (C21fs)	Duplication (frameshift variant +1 more)	Brugada syndrome 5	GPathogenic
Select item 2727503	NM_001037.5(SCN1B):c.5G>T (p.Gly2Val)	SCN1B (G2V)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 2727486	NM_001037.5(SCN1B):c.207+20G>C	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GLikely benign
Select item 2719686	NM_001037.5(SCN1B):c.72G>A (p.Val24=)	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 5	GLikely benign
Select item 2718773	NM_001037.5(SCN1B):c.448+184C>A	SCN1B (S211Y)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2718693	NM_001037.5(SCN1B):c.208-4del	SCN1B	Deletion (intron variant)	Brugada syndrome 5	GBenign
Select item 2713427	NM_001037.5(SCN1B):c.448+256T>A	SCN1B (L235Q)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2711572	NM_001037.5(SCN1B):c.224A>G (p.Asn75Ser)	SCN1B (N75S +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 2709805	NM_001037.5(SCN1B):c.178dup (p.Arg60fs)	SCN1B (R27fs +1 more)	Duplication (frameshift variant)	Brugada syndrome 5	GPathogenic
Select item 2709790	NM_001037.5(SCN1B):c.71T>A (p.Val24Glu)	SCN1B (V24E)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2701983	NM_001037.5(SCN1B):c.349G>A (p.Gly117Ser)	SCN1B (G117S +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 2700049	NM_001037.5(SCN1B):c.197A>G (p.Glu66Gly)	SCN1B (E66G +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 2695164	NM_001037.5(SCN1B):c.275G>C (p.Trp92Ser)	SCN1B (W59S +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 2683490	NM_001037.5(SCN1B):c.55G>A (p.Gly19Arg)	SCN1B (G19R)	Single nucleotide variant (5 prime UTR variant +1 more)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2649713	NM_001037.5(SCN1B):c.448+2233G>A	SCN1B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2629905	NM_001037.5(SCN1B):c.254del (p.Arg85fs)	SCN1B (R52fs +1 more)	Deletion (frameshift variant)	SCN1B-related disorder	GUncertain significance
Select item 2625080	NM_001037.5(SCN1B):c.646G>A (p.Val216Met)	SCN1B (V216M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2619396	NM_001037.5(SCN1B):c.565A>C (p.Thr189Pro)	SCN1B (T189P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2585586	NM_001037.5(SCN1B):c.289G>C (p.Gly97Arg)	SCN1B (G64R +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1	GUncertain significance
Select item 2580376	NM_001037.5(SCN1B):c.590C>A (p.Ala197Asp)	SCN1B (A164D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2579916	NM_001037.5(SCN1B):c.218A>G (p.Tyr73Cys)	SCN1B (Y40C +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 2562704	NM_001037.5(SCN1B):c.229G>A (p.Val77Met)	SCN1B (V44M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2561490	NM_001037.5(SCN1B):c.647T>G (p.Val216Gly)	SCN1B (V216G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2550180	NM_001037.5(SCN1B):c.484A>G (p.Met162Val)	SCN1B (M129V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2498769	NM_001037.5(SCN1B):c.448+2215G>A	SCN1B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2484594	NM_001037.5(SCN1B):c.498C>T (p.Leu166=)	SCN1B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2447629	NM_001037.5(SCN1B):c.381C>G (p.Leu127=)	SCN1B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2447628	NM_001037.5(SCN1B):c.631dup (p.Cys211fs)	SCN1B (C178fs +1 more)	Duplication (frameshift variant)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 2441923	NM_001037.5(SCN1B):c.634A>T (p.Thr212Ser)	SCN1B (T179S +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1	GUncertain significance
Select item 2430401	NM_001037.5(SCN1B):c.343C>T (p.His115Tyr)	SCN1B (H115Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FFAR3, FXYD1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2413891	NM_001037.5(SCN1B):c.448+25T>C	SCN1B (F158S)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance

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