10060[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC124625919, LOC124625920 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	ABCC9, AEBP2 +101 more	Copy number loss	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	LOC129390413, LOC129390414 +133 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 379564	NM_020297.4(ABCC9):c.*19T>C	ABCC9	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 1189888	NM_020297.4(ABCC9):c.*7G>A	ABCC9	Single nucleotide variant (3 prime UTR variant)	ABCC9-related condition +1 more	GLikely benign
Select item 228424	NM_020297.4(ABCC9):c.*5G>C	ABCC9	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 682239	NM_020297.4(ABCC9):c.4638C>T (p.Arg1546=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 222475	NM_020297.4(ABCC9):c.4637G>T (p.Arg1546Leu)	ABCC9 (R1546L +1 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1305624	NM_020297.4(ABCC9):c.4630T>G (p.Phe1544Val)	ABCC9 (F1255V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504478	NM_020297.4(ABCC9):c.4628C>G (p.Ser1543Cys)	ABCC9 (S1254C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430294	NM_020297.4(ABCC9):c.4603dup (p.Ala1535fs)	ABCC9 (A1246fs +1 more)	Duplication (frameshift variant +1 more)	See cases	GUncertain significance
Select item 178917	NM_020297.4(ABCC9):c.4569T>C (p.Asn1523=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 8162	NM_020297.4(ABCC9):c.4537G>A (p.Ala1513Thr)	ABCC9 (A1513T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GPathogenic
Select item 1218182	NM_020297.4(ABCC9):c.4536G>A (p.Thr1512=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 489388	NM_020297.4(ABCC9):c.4535C>T (p.Thr1512Met)	ABCC9 (T1512M +1 more)	Single nucleotide variant (missense variant +1 more)	Atrial fibrillation, familial, 12 +1 more	Gnot provided
Select item 681259	NM_020297.4(ABCC9):c.4512+1094A>C	ABCC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217292	NM_020297.4(ABCC9):c.4512+826C>T	ABCC9	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2051511	NM_020297.4(ABCC9):c.4512+824G>A	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1O	GLikely benign
Select item 1021093	NM_020297.4(ABCC9):c.4512+824G>C	ABCC9	Single nucleotide variant (stop lost +1 more)	Dilated cardiomyopathy 1O +3 more	GUncertain significance
Select item 1929347	NM_020297.4(ABCC9):c.4512+818C>G	ABCC9 (N1548K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2806787	NM_020297.4(ABCC9):c.4512+815C>A	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1O	GLikely benign
Select item 30185	NM_020297.4(ABCC9):c.4512+814C>T	ABCC9 (T1547I)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +2 more	GUncertain significance
Select item 658269	NM_020297.4(ABCC9):c.4512+805T>C	ABCC9 (L1544S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O +1 more	GConflicting classifications of pathogenicity
Select item 1380962	NM_020297.4(ABCC9):c.4512+802C>T	ABCC9 (T1543I)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 1922567	NM_020297.4(ABCC9):c.4512+801A>G	ABCC9 (T1543A)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 45417	NM_020297.4(ABCC9):c.4512+787A>G	ABCC9 (N1538S)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GUncertain significance
Select item 943561	NM_020297.4(ABCC9):c.4512+784A>G	ABCC9 (K1537R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O +1 more	GUncertain significance
Select item 1148706	NM_020297.4(ABCC9):c.4512+782C>T	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1O	GLikely benign
Select item 1377116	NM_020297.4(ABCC9):c.4512+780C>T	ABCC9 (H1536Y)	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 1741831	NM_020297.4(ABCC9):c.4512+777_4512+778delinsAA	ABCC9 (A1535N)	Indel (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 810744	NM_020297.4(ABCC9):c.4512+778C>A	ABCC9 (A1535D)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 197035	NM_020297.4(ABCC9):c.4512+777G>A	ABCC9 (A1535T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O +5 more	GConflicting classifications of pathogenicity
Select item 1088058	NM_020297.4(ABCC9):c.4512+776C>T	ABCC9	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1O	GLikely benign
Select item 1116853	NM_020297.4(ABCC9):c.4512+771T>C	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1O	GLikely benign
Select item 1964281	NM_020297.4(ABCC9):c.4512+769A>G	ABCC9 (N1532S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 228426	NM_020297.4(ABCC9):c.4512+765C>T	ABCC9 (P1531S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 2012966	NM_020297.4(ABCC9):c.4512+748T>G	ABCC9 (V1525G)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 1018059	NM_020297.4(ABCC9):c.4512+748T>A	ABCC9 (V1525E)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2642776	NM_020297.4(ABCC9):c.4512+746_4512+747del	ABCC9 (L1524fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1395750	NM_020297.4(ABCC9):c.4512+747G>A	ABCC9 (V1525M)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 192108	NM_020297.4(ABCC9):c.4512+746_4512+747insT	ABCC9 (V1525fs)	Insertion (frameshift variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 711457	NM_020297.4(ABCC9):c.4512+745_4512+746del	ABCC9 (L1524fs)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1O +2 more	GLikely benign
Select item 439345	NM_020297.4(ABCC9):c.4512+745dup	ABCC9 (L1524fs)	Duplication (intron variant +1 more)	not specified	GUncertain significance
Select item 222477	NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT	ABCC9 (L1524fs)	Indel (frameshift variant +1 more)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 2642777	NM_020297.4(ABCC9):c.4512+745T>G	ABCC9 (L1524*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 192109	NM_020297.4(ABCC9):c.4512+745T>A	ABCC9 (L1524*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2642778	NM_020297.4(ABCC9):c.4512+743_4512+744insAAA	ABCC9	Insertion (inframe_insertion +1 more)	Dilated cardiomyopathy 1O +1 more	GLikely benign
Select item 192110	NM_020297.4(ABCC9):c.4512+744T>A	ABCC9 (L1524I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1741534	NM_020297.4(ABCC9):c.4512+743T>G	ABCC9 (I1523M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2195564	NM_020297.4(ABCC9):c.4512+738G>T	ABCC9 (G1522C)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 1717039	NM_020297.4(ABCC9):c.4512+738G>A	ABCC9 (G1522S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 1479100	NM_020297.4(ABCC9):c.4512+737G>T	ABCC9 (E1521D)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2625271	NM_020297.4(ABCC9):c.4512+733C>A	ABCC9 (S1520Y)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 623799	NM_020297.4(ABCC9):c.4512+733C>G	ABCC9 (S1520C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1741470	NM_020297.4(ABCC9):c.4512+732T>A	ABCC9 (S1520T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O +1 more	GUncertain significance
Select item 843430	NM_020297.4(ABCC9):c.4512+726G>A	ABCC9 (V1518I)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2119800	NM_020297.4(ABCC9):c.4512+720G>A	ABCC9 (V1516I)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2992819	NM_020297.4(ABCC9):c.4512+718T>C	ABCC9 (L1515P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 1000587	NM_020297.4(ABCC9):c.4512+718T>G	ABCC9 (L1515R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2853225	NM_020297.4(ABCC9):c.4512+713del	ABCC9 (G1514fs)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 856369	NM_020297.4(ABCC9):c.4512+711G>A	ABCC9 (A1513T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 1152821	NM_020297.4(ABCC9):c.4512+710T>C	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1O	GLikely benign
Select item 1902259	NM_020297.4(ABCC9):c.4512+708G>A	ABCC9 (D1512N)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 1367838	NM_020297.4(ABCC9):c.4512+691_4512+701del	ABCC9 (R1506fs)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2026080	NM_020297.4(ABCC9):c.4512+693_4512+694del	ABCC9 (V1507fs)	Microsatellite (frameshift variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 1054104	NM_020297.4(ABCC9):c.4512+693G>C	ABCC9 (V1507L)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 883307	NM_020297.4(ABCC9):c.4512+693G>T	ABCC9 (V1507F)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O +1 more	GUncertain significance
Select item 228425	NM_020297.4(ABCC9):c.4512+693G>A	ABCC9 (V1507I)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O +2 more	GUncertain significance
Select item 519009	NM_020297.4(ABCC9):c.4512+691G>A	ABCC9 (R1506H)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 45416	NM_020297.4(ABCC9):c.4512+690C>T	ABCC9 (R1506C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 847707	NM_020297.4(ABCC9):c.4512+688A>G	ABCC9 (H1505R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3066272	NM_020297.4(ABCC9):c.4512+687C>A	ABCC9 (H1505N)	Single nucleotide variant (missense variant +1 more)	Hypertrichotic osteochondrodysplasia Cantu type	GUncertain significance
Select item 2193071	NM_020297.4(ABCC9):c.4512+684C>T	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 797989	NM_020297.4(ABCC9):c.4512+679C>T	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 1896806	NM_020297.4(ABCC9):c.4512+673A>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2153788	NM_020297.4(ABCC9):c.4512+668_4512+672del	ABCC9	Deletion (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 1999244	NM_020297.4(ABCC9):c.4512+672T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2752809	NM_020297.4(ABCC9):c.4512+671C>T	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 1631019	NM_020297.4(ABCC9):c.4512+666_4512+668del	ABCC9	Microsatellite (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 1965977	NM_020297.4(ABCC9):c.4512+667T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 672441	NM_020297.4(ABCC9):c.4512+533C>G	ABCC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211770	NM_020297.4(ABCC9):c.4512+296A>G	ABCC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2176268	NM_020297.4(ABCC9):c.4512+17G>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 377416	NM_020297.4(ABCC9):c.4512+16C>T	ABCC9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1082390	NM_020297.4(ABCC9):c.4512+10A>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2740415	NM_020297.4(ABCC9):c.4512+8T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 510223	NM_020297.4(ABCC9):c.4512+7A>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O +1 more	GLikely benign
Select item 1204072	NM_020297.4(ABCC9):c.4512+1G>A	ABCC9	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1741141	NM_020297.4(ABCC9):c.4512T>C (p.Ala1504=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 506551	NM_020297.4(ABCC9):c.4512T>A (p.Ala1504=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O +3 more	GConflicting classifications of pathogenicity
Select item 1339079	NM_020297.4(ABCC9):c.4498G>A (p.Val1500Met)	ABCC9 (V1211M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 1740997	NM_020297.4(ABCC9):c.4497C>A (p.Thr1499=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign

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