ClinVar for Gene (Select 9311) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318136	NM_004769.4(ASIC3):c.1123T>C (p.Tyr375His)	ASIC3 (Y375H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318127	NM_004769.4(ASIC3):c.1147C>T (p.Arg383Trp)	ASIC3 (R383W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318117	NM_004769.4(ASIC3):c.380G>T (p.Arg127Leu)	ASIC3 (R127L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318109	NM_004769.4(ASIC3):c.1114A>C (p.Ser372Arg)	ASIC3, LOC129999616 (S372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318100	NM_004769.4(ASIC3):c.404C>T (p.Pro135Leu)	ASIC3 (P135L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318089	NM_004769.4(ASIC3):c.1094C>T (p.Ala365Val)	ASIC3, LOC129999616 (A365V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245697	NC_000007.13:g.(?_150643945)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3130377	NM_004769.4(ASIC3):c.984C>G (p.Cys328Trp)	ASIC3 (C328W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130376	NM_004769.4(ASIC3):c.94G>A (p.Val32Ile)	ASIC3 (V32I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130375	NM_004769.4(ASIC3):c.751G>A (p.Asp251Asn)	ASIC3 (D251N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130374	NM_004769.4(ASIC3):c.718C>G (p.Gln240Glu)	ASIC3 (Q240E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130373	NM_004769.4(ASIC3):c.698T>C (p.Phe233Ser)	ASIC3 (F233S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130371	NM_004769.4(ASIC3):c.578C>A (p.Ala193Asp)	ASIC3 (A193D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130369	NM_004769.4(ASIC3):c.44C>T (p.Ser15Leu)	ASIC3 (S15L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130368	NM_004769.4(ASIC3):c.370G>A (p.Ala124Thr)	ASIC3 (A124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130367	NM_004769.4(ASIC3):c.193C>T (p.Arg65Cys)	ASIC3 (R65C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130366	NM_004769.4(ASIC3):c.1568G>T (p.Arg523Leu)	ASIC3 (R523L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130365	NM_004769.4(ASIC3):c.1543A>T (p.Thr515Ser)	ASIC3 (H495L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3130364	NM_004769.4(ASIC3):c.1313T>C (p.Ile438Thr)	ASIC3 (I438T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130363	NM_004769.4(ASIC3):c.125G>C (p.Arg42Pro)	ASIC3 (R42P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130361	NM_004769.4(ASIC3):c.1099C>T (p.Pro367Ser)	ASIC3, LOC129999616 (P367S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2605939	NM_004769.4(ASIC3):c.260C>T (p.Pro87Leu)	ASIC3 (P87L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600921	NM_004769.4(ASIC3):c.913A>G (p.Ser305Gly)	ASIC3 (S305G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598502	NM_004769.4(ASIC3):c.769G>T (p.Val257Leu)	ASIC3 (V257L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596251	NM_004769.4(ASIC3):c.25G>A (p.Glu9Lys)	ASIC3 (E9K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590880	NM_004769.4(ASIC3):c.1582G>A (p.Val528Ile)	ASIC3 (V528I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2569813	NM_004769.4(ASIC3):c.1169C>T (p.Ala390Val)	ASIC3 (A390V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566018	NM_004769.4(ASIC3):c.*19C>T	ASIC3 (S519L)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 2562032	NM_004769.4(ASIC3):c.1015G>A (p.Val339Met)	ASIC3 (V339M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548690	NM_004769.4(ASIC3):c.650A>G (p.Gln217Arg)	ASIC3 (Q217R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540228	NM_004769.4(ASIC3):c.1082A>C (p.Lys361Thr)	ASIC3, LOC129999616 (K361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537503	NM_004769.4(ASIC3):c.73T>C (p.Ser25Pro)	ASIC3 (S25P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524746	NM_004769.4(ASIC3):c.770T>C (p.Val257Ala)	ASIC3 (V257A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2522307	NM_004769.4(ASIC3):c.803A>G (p.Gln268Arg)	ASIC3 (Q268R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521337	NM_004769.4(ASIC3):c.544C>T (p.Arg182Trp)	ASIC3 (R182W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518211	NM_004769.4(ASIC3):c.55G>A (p.Val19Met)	ASIC3 (V19M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518154	NM_004769.4(ASIC3):c.1076T>C (p.Leu359Pro)	ASIC3, LOC129999616 (L359P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513663	NM_004769.4(ASIC3):c.1535G>T (p.Cys512Phe)	ASIC3 (C512F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512667	NM_004769.4(ASIC3):c.1483C>G (p.Arg495Gly)	ASIC3 (R495G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2490122	NM_004769.4(ASIC3):c.409G>A (p.Gly137Ser)	ASIC3 (G137S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489422	NM_004769.4(ASIC3):c.752A>G (p.Asp251Gly)	ASIC3 (D251G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487592	NM_004769.4(ASIC3):c.646G>A (p.Val216Met)	ASIC3 (V216M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478222	NM_004769.4(ASIC3):c.74C>T (p.Ser25Leu)	ASIC3 (S25L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456667	NM_004769.4(ASIC3):c.1568G>A (p.Arg523His)	ASIC3 (A530T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455054	NM_004769.4(ASIC3):c.*27C>T	ASIC3 (P548L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2454954	NM_004769.4(ASIC3):c.494G>A (p.Arg165His)	ASIC3 (R165H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427458	NC_000007.13:g.(?_150307047)_(152613597_?)del	ABCB8, ABCF2 +31 more	Deletion	not provided	GPathogenic
Select item 2426280	NC_000007.13:g.(?_150642453)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2425238	NC_000007.13:g.(?_150324807)_(152373164_?)dup	ABCB8, ABCF2 +30 more	Duplication	not provided	GUncertain significance
Select item 2425237	NC_000007.13:g.(?_150324807)_(152373164_?)del	ABCB8, ABCF2 +30 more	Deletion	not provided	GPathogenic
Select item 2404735	NM_004769.4(ASIC3):c.132G>A (p.Met44Ile)	ASIC3 (M44I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398573	NM_004769.4(ASIC3):c.236G>A (p.Arg79Gln)	ASIC3 (R79Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394868	NM_004769.4(ASIC3):c.1539C>T (p.Ala513=)	ASIC3 (R494C +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2380672	NM_004769.4(ASIC3):c.1518-4G>A	ASIC3 (E512K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379779	NM_004769.4(ASIC3):c.695C>T (p.Pro232Leu)	ASIC3 (P232L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372136	NM_004769.4(ASIC3):c.1581T>C (p.Leu527=)	ASIC3 (L534S +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2363950	NM_004769.4(ASIC3):c.388G>A (p.Gly130Ser)	ASIC3 (G130S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291667	NM_004769.4(ASIC3):c.973G>A (p.Ala325Thr)	ASIC3 (A325T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289160	NM_004769.4(ASIC3):c.137C>T (p.Ala46Val)	ASIC3 (A46V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286666	NM_004769.4(ASIC3):c.1022T>C (p.Val341Ala)	ASIC3 (V341A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262160	NM_004769.4(ASIC3):c.1035G>C (p.Gln345His)	ASIC3 (Q345H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261220	NM_004769.4(ASIC3):c.35G>A (p.Arg12Gln)	ASIC3 (R12Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241597	NM_004769.4(ASIC3):c.712C>G (p.Arg238Gly)	ASIC3 (R238G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240646	NM_004769.4(ASIC3):c.1529C>T (p.Pro510Leu)	ASIC3 (L517F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234404	NM_004769.4(ASIC3):c.310C>T (p.Pro104Ser)	ASIC3 (P104S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218724	NM_004769.4(ASIC3):c.122G>A (p.Arg41His)	ASIC3 (R41H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217229	NM_004769.4(ASIC3):c.454C>T (p.Arg152Cys)	ASIC3 (R152C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215477	NM_004769.4(ASIC3):c.53G>A (p.Arg18His)	ASIC3 (R18H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211741	NM_004769.4(ASIC3):c.358G>A (p.Ala120Thr)	ASIC3 (A120T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211466	NM_004769.4(ASIC3):c.1171C>T (p.Arg391Cys)	ASIC3 (R391C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203944	NM_004769.4(ASIC3):c.499C>T (p.Arg167Cys)	ASIC3 (R167C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807607	GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1	ABCB8, ABCF2 +40 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1703061	NM_004769.4(ASIC3):c.449_450del (p.Tyr150fs)	ASIC3 (Y150fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1703060	NM_004769.4(ASIC3):c.235C>T (p.Arg79Ter)	ASIC3 (R79*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ACTR3C, AGAP3 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	CUL1, DNAJB6 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 1330211	GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1	ABCF2, AGAP3 +19 more	Copy number loss	Kleefstra syndrome 2	GPathogenic
Select item 1068862	NC_000007.13:g.(?_150642443)_(151385353_?)del	RHEB, SLC4A2 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 1027137	NC_000007.13:g.(?_150642453)_(152373165_?)dup	RHEB, SLC4A2 +23 more	Duplication	Long QT syndrome	GUncertain significance
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 830893	NC_000007.13:g.(?_150066801)_(150759750_?)del	ABCB8, AOC1 +17 more	Deletion	Long QT syndrome	GPathogenic
Select item 830594	NC_000007.13:g.(?_150642443)_(151385353_?)dup	RHEB, SLC4A2 +19 more	Duplication	Long QT syndrome	GUncertain significance
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic

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