ClinVar for Gene (Select 136371) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3130087	NM_001142459.2(ASB10):c.869C>T (p.Ala290Val)	ASB10 (A275V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130086	NM_001142459.2(ASB10):c.826C>A (p.Leu276Met)	ASB10 (L276M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130085	NM_001142459.2(ASB10):c.574G>A (p.Gly192Ser)	ASB10 (G177S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130084	NM_001142459.2(ASB10):c.546A>T (p.Lys182Asn)	ASB10 (K167N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130083	NM_001142459.2(ASB10):c.529G>A (p.Ala177Thr)	ASB10 (A162T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130082	NM_001142459.2(ASB10):c.517G>A (p.Asp173Asn)	ASB10 (D158N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130081	NM_001142459.2(ASB10):c.515C>G (p.Ala172Gly)	ASB10 (A157G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130080	NM_001142459.2(ASB10):c.239G>T (p.Gly80Val)	ASB10 (G80V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130079	NM_001142459.2(ASB10):c.15G>T (p.Trp5Cys)	ASB10 (W5C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130078	NM_001142459.2(ASB10):c.1352C>T (p.Pro451Leu)	ASB10 (P413L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130076	NM_001142459.2(ASB10):c.1189G>A (p.Val397Ile)	ASB10 (V397I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130075	NM_001142459.2(ASB10):c.1140C>G (p.Ile380Met)	ASB10 (I365M +1 more)	Single nucleotide variant (missense variant +1 more)	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 3057865	NM_001142459.2(ASB10):c.927C>T (p.Val309=)	ASB10	Single nucleotide variant (synonymous variant)	ASB10-related condition	GLikely benign
Select item 3049876	NM_080871.4(ASB10):c.250C>T (p.Arg84Cys)	ASB10 (R84C)	Single nucleotide variant (missense variant)	ASB10-related condition	GLikely benign
Select item 3039317	NM_001142459.2(ASB10):c.1197G>T (p.Leu399=)	ASB10	Single nucleotide variant (synonymous variant +1 more)	ASB10-related condition	GLikely benign
Select item 3020811	NM_001142459.2(ASB10):c.1165_1166del (p.Val389fs)	ASB10 (V389fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3017846	NM_001142459.2(ASB10):c.451G>A (p.Ala151Thr)	ASB10 (A136T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958862	NM_001142459.2(ASB10):c.1029C>T (p.Ala343=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888094	NM_001142459.2(ASB10):c.571C>A (p.Pro191Thr)	ASB10 (P176T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2884295	NM_001142459.2(ASB10):c.570del (p.Pro191fs)	ASB10 (P176fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2760142	NM_001142459.2(ASB10):c.1155C>T (p.Asn385=)	ASB10	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
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 2614790	NM_001142459.2(ASB10):c.1265C>A (p.Pro422His)	ASB10 (P384H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595795	NM_001142459.2(ASB10):c.911G>A (p.Arg304His)	ASB10 (R304H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	C7orf33, CASP2 +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2555043	NM_001142459.2(ASB10):c.1008G>C (p.Gln336His)	ASB10 (Q336H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542217	NM_001142459.2(ASB10):c.257T>C (p.Val86Ala)	ASB10 (V86A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534156	NM_001142459.2(ASB10):c.856G>A (p.Asp286Asn)	ASB10 (D271N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512105	NM_001142459.2(ASB10):c.460G>A (p.Glu154Lys)	ASB10 (E139K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487795	NM_001142459.2(ASB10):c.11G>C (p.Ser4Thr)	ASB10 (S4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427458	NC_000007.13:g.(?_150307047)_(152613597_?)del	ASB10, ASIC3 +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 2411549	NM_001142459.2(ASB10):c.1091G>T (p.Gly364Val)	ASB10 (G349V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378789	NM_001142459.2(ASB10):c.1072G>A (p.Ala358Thr)	ASB10 (A343T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378023	NM_001142459.2(ASB10):c.928G>A (p.Val310Met)	ASB10 (V310M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373381	NM_001142459.2(ASB10):c.514G>A (p.Ala172Thr)	ASB10 (A157T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354499	NM_001142459.2(ASB10):c.1168G>A (p.Val390Met)	ASB10 (V390M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2334199	NM_001142459.2(ASB10):c.859G>A (p.Ala287Thr)	ASB10 (A287T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328350	NM_001142459.2(ASB10):c.412C>T (p.Arg138Trp)	ASB10 (R123W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327718	NM_001142459.2(ASB10):c.350C>A (p.Thr117Asn)	ASB10 (T102N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303098	NM_001142459.2(ASB10):c.512G>A (p.Gly171Glu)	ASB10 (G156E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303066	NM_001142459.2(ASB10):c.131G>A (p.Gly44Glu)	ASB10 (G44E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293021	NM_001142459.2(ASB10):c.1138A>T (p.Ile380Phe)	ASB10 (I365F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260738	NM_001142459.2(ASB10):c.478C>T (p.His160Tyr)	ASB10 (H160Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247428	NM_001142459.2(ASB10):c.907C>T (p.Arg303Cys)	ASB10 (R288C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224732	NM_001142459.2(ASB10):c.307C>T (p.Arg103Cys)	ASB10 (R103C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2195540	NM_001142459.2(ASB10):c.256G>A (p.Val86Ile)	ASB10 (V86I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2193163	NM_001142459.2(ASB10):c.1300C>T (p.Arg434Cys)	ASB10 (R396C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2168421	NM_001142459.2(ASB10):c.738C>T (p.Ala246=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2167634	NM_001142459.2(ASB10):c.398G>A (p.Arg133Gln)	ASB10 (R133Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053311	NM_080871.4(ASB10):c.236G>A (p.Arg79Gln)	ASB10 (R79Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2039114	NM_001142459.2(ASB10):c.316+7G>A	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1990116	NM_001142459.2(ASB10):c.91C>A (p.Pro31Thr)	ASB10 (P31T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1945680	NM_001142459.2(ASB10):c.1319G>T (p.Ser440Ile)	ASB10 (S402I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905788	NM_001142459.2(ASB10):c.1265C>G (p.Pro422Arg)	ASB10 (P407R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 1661042	NM_001142459.2(ASB10):c.1306C>A (p.His436Asn)	ASB10 (H398N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1621502	NM_001142459.2(ASB10):c.27G>T (p.Glu9Asp)	ASB10 (E9D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1567495	NM_001142459.2(ASB10):c.327T>C (p.Ser109=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558758	NM_001142459.2(ASB10):c.129G>A (p.Pro43=)	ASB10	Single nucleotide variant (synonymous variant +1 more)	ASB10-related condition +1 more	GBenign/Likely benign
Select item 1538105	NM_001142459.2(ASB10):c.321C>G (p.Leu107=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1447085	NM_001142459.2(ASB10):c.872A>G (p.Asp291Gly)	ASB10 (D276G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360949	NM_001142459.2(ASB10):c.1036C>T (p.Pro346Ser)	ASB10 (P346S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1357422	NM_001142459.2(ASB10):c.1246T>C (p.Phe416Leu)	ASB10 (F401L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ABCB8, ABCF2 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	ABCB8, ABCF2 +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 1320588	NM_001142459.2(ASB10):c.585-158_585-157del	ASB10	Deletion (intron variant)	not provided	GLikely benign
Select item 1317780	NM_001142459.2(ASB10):c.450C>T (p.Thr150=)	ASB10	Single nucleotide variant (synonymous variant)	ASB10-related condition +1 more	GBenign/Likely benign
Select item 1317556	NM_001142459.2(ASB10):c.1218+26G>C	ASB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317501	NM_001142459.2(ASB10):c.1218+84G>A	ASB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316393	NC_000007.14:g.151188017G>A	ASB10	Single nucleotide variant	not provided	GLikely benign
Select item 1297556	NM_001142459.2(ASB10):c.1386T>G (p.Phe462Leu)	ASB10 (F424L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1296961	NM_001142459.2(ASB10):c.585-4A>G	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296559	NM_001142459.2(ASB10):c.1104+220A>G	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273912	NM_001142459.2(ASB10):c.585-157del	ASB10	Deletion (intron variant)	not provided	GBenign
Select item 1265221	NM_001142459.2(ASB10):c.585-315G>A	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264762	NM_001142459.2(ASB10):c.584+258T>C	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264027	NM_001142459.2(ASB10):c.1104+252T>C	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261447	NM_001142459.2(ASB10):c.585-300A>C	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260788	NM_001142459.2(ASB10):c.1104+144C>T	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251591	NM_001142459.2(ASB10):c.316+10G>A	ASB10	Single nucleotide variant (intron variant)	ASB10-related condition +1 more	GBenign
Select item 1249881	NM_001142459.2(ASB10):c.317-75C>T	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248058	NM_001142459.2(ASB10):c.584+192G>A	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244215	NM_001142459.2(ASB10):c.1218+42T>C	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign

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