7139[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 57818	GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3	CSRP1, CSRP1-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 1174167	NM_001276345.2(TNNT2):c.*180A>T	TNNT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1290330	NM_001276345.2(TNNT2):c.*170C>G	TNNT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1257435	NM_001276345.2(TNNT2):c.*150C>T	TNNT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1290331	NM_001276345.2(TNNT2):c.*123C>T	TNNT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1260013	NM_001276345.2(TNNT2):c.*90del	TNNT2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1290329	NM_001276345.2(TNNT2):c.*88C>G	TNNT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1239408	NM_001276345.2(TNNT2):c.*71C>T	TNNT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 294893	NM_001276345.2(TNNT2):c.*66G>A	TNNT2	Single nucleotide variant (3 prime UTR variant)	Familial restrictive cardiomyopathy +7 more	GBenign/Likely benign
Select item 1277246	NM_001276345.2(TNNT2):c.*40A>C	TNNT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 875245	NM_001276345.2(TNNT2):c.*39C>T	TNNT2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 876212	NM_001276345.2(TNNT2):c.*37C>G	TNNT2	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy, familial restrictive, 3 +2 more	GUncertain significance
Select item 876211	NM_001276345.2(TNNT2):c.*37C>T	TNNT2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1275654	NM_001276345.2(TNNT2):c.*31del	TNNT2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1171777	NM_001276345.2(TNNT2):c.*3C>G	TNNT2	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 921153	NM_001276345.2(TNNT2):c.*3C>A	TNNT2	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 927992	NM_001276345.2(TNNT2):c.*2G>A	TNNT2	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 1106650	NM_001276345.2(TNNT2):c.897G>A (p.Ter299=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1764222	NM_001276345.2(TNNT2):c.895T>C (p.Ter299Gln)	TNNT2	Single nucleotide variant (stop lost)	Cardiovascular phenotype	GUncertain significance
Select item 404397	NM_001276345.2(TNNT2):c.893A>C (p.Lys298Thr)	TNNT2 (K288T +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2940034	NM_001276345.2(TNNT2):c.891G>C (p.Trp297Cys)	TNNT2 (W287C +7 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 181636	NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter)	TNNT2 (W287* +5 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 452905	NM_001276345.2(TNNT2):c.890G>T (p.Trp297Leu)	TNNT2 (W287L +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 177636	NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)	TNNT2 (W287* +5 more)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 43677	NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)	TNNT2 (R286H +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 577168	NM_001276345.2(TNNT2):c.886C>A (p.Arg296Ser)	TNNT2 (R293S +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 43676	NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)	TNNT2 (R286C +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +7 more	GConflicting classifications of pathogenicity
Select item 1275653	NM_001276345.2(TNNT2):c.885G>A (p.Gly295=)	TNNT2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 619282	NM_001276345.2(TNNT2):c.884G>A (p.Gly295Glu)	TNNT2 (G285E +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1507789	NM_001276345.2(TNNT2):c.883G>C (p.Gly295Arg)	TNNT2 (G285R +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 180555	NM_001276345.2(TNNT2):c.883G>A (p.Gly295Arg)	TNNT2 (G285R +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 388233	NM_001276345.2(TNNT2):c.882C>T (p.Thr294=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 1763600	NM_001276345.2(TNNT2):c.879C>T (p.Val293=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +4 more	GLikely benign
Select item 180556	NM_001276345.2(TNNT2):c.878T>A (p.Val293Asp)	TNNT2 (V283D +5 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 469533	NM_001276345.2(TNNT2):c.874A>G (p.Lys292Glu)	TNNT2 (K289E +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +2 more	GConflicting classifications of pathogenicity
Select item 2937804	NM_001276345.2(TNNT2):c.870G>A (p.Lys290=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 1329429	NM_001276345.2(TNNT2):c.870G>T (p.Lys290Asn)	TNNT2 (K247N +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1719889	NM_001276345.2(TNNT2):c.868A>G (p.Lys290Glu)	TNNT2 (K247E +7 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +2 more	GUncertain significance
Select item 3232333	NM_001276345.2(TNNT2):c.867G>A (p.Gly289=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 179939	NM_001276345.2(TNNT2):c.866G>A (p.Gly289Glu)	TNNT2 (G279E +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 644641	NM_001276345.2(TNNT2):c.865G>C (p.Gly289Arg)	TNNT2 (G246R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +2 more	GUncertain significance
Select item 426271	NM_001276345.2(TNNT2):c.865G>A (p.Gly289Arg)	TNNT2 (G279R +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2939130	NM_001276345.2(TNNT2):c.864C>A (p.Arg288=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 629597	NM_001276345.2(TNNT2):c.864C>T (p.Arg288=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +4 more	GLikely benign
Select item 177635	NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro)	TNNT2 (R278P +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 43674	NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)	TNNT2 (R278H +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +6 more	GConflicting classifications of pathogenicity
Select item 12411	NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	TNNT2 (R278C +5 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 2000100	NM_001276345.2(TNNT2):c.861C>T (p.Thr287=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 1541042	NM_001276345.2(TNNT2):c.861C>G (p.Thr287=)	TNNT2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1D +2 more	GLikely benign
Select item 537266	NM_001276345.2(TNNT2):c.861C>A (p.Thr287=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +5 more	GLikely benign
Select item 132939	NM_001276345.2(TNNT2):c.858G>A (p.Lys286=)	TNNT2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 229339	NM_001276345.2(TNNT2):c.854C>A (p.Ser285Tyr)	TNNT2 (S275Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 181634	NM_001276345.2(TNNT2):c.852-1G>T	TNNT2	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1D +3 more	GUncertain significance
Select item 954973	NM_001276345.2(TNNT2):c.852-2A>G	TNNT2	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 419277	NM_001276345.2(TNNT2):c.852-2A>C	TNNT2	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1806020	NM_001276345.2(TNNT2):c.852-3C>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +1 more	GUncertain significance
Select item 998476	NM_001276345.2(TNNT2):c.852-3C>G	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 807896	NM_001276345.2(TNNT2):c.852-3C>T	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +5 more	GConflicting classifications of pathogenicity
Select item 1588574	NM_001276345.2(TNNT2):c.852-7C>T	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2939403	NM_001276345.2(TNNT2):c.852-9C>T	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 516875	NM_001276345.2(TNNT2):c.852-18G>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +3 more	GLikely benign
Select item 378742	NM_001276345.2(TNNT2):c.852-19C>T	TNNT2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1D +3 more	GBenign/Likely benign
Select item 1217922	NM_001276345.2(TNNT2):c.852-23A>G	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +3 more	GLikely benign
Select item 671447	NM_001276345.2(TNNT2):c.851+43C>T	TNNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 188691	NM_001276345.2(TNNT2):c.851+22C>T	TNNT2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2950891	NM_001276345.2(TNNT2):c.851+11G>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2948219	NM_001276345.2(TNNT2):c.851+8T>C	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2934884	NM_001276345.2(TNNT2):c.851+6T>A	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 488163	NM_001276345.2(TNNT2):c.851+5G>C	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy, familial restrictive, 3 +2 more	GUncertain significance
Select item 36886	NM_001276345.2(TNNT2):c.851+5G>A	TNNT2	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1483859	NM_001276345.2(TNNT2):c.851+2dup	TNNT2	Duplication (splice donor variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 181649	NM_001276345.2(TNNT2):c.851+1G>C	TNNT2	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 165533	NM_001276345.2(TNNT2):c.851+1G>T	TNNT2	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 43673	NM_001276345.2(TNNT2):c.851+1G>A	TNNT2	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 2 +5 more	GPathogenic/Likely pathogenic
Select item 2119540	NM_001276345.2(TNNT2):c.851T>C (p.Val284Ala)	TNNT2 (V281A +7 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +3 more	GUncertain significance
Select item 1172179	NM_001276345.2(TNNT2):c.849A>G (p.Lys283=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 694541	NM_001276345.2(TNNT2):c.847A>C (p.Lys283Gln)	TNNT2 (K240Q +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 431937	NM_001276345.2(TNNT2):c.847A>G (p.Lys283Glu)	TNNT2 (K273E +5 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 181639	NM_001276345.2(TNNT2):c.844dup (p.Gln282fs)	TNNT2 (Q282fs +5 more)	Duplication (frameshift variant)	Cardiomyopathy	GPathogenic
Select item 1175037	NM_001276345.2(TNNT2):c.844C>T (p.Gln282Ter)	TNNT2 (Q239* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1406501	NM_001276345.2(TNNT2):c.842A>G (p.Asn281Ser)	TNNT2 (N265S +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 3 +3 more	GUncertain significance
Select item 217495	NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)	TNNT2 (N268I +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 1436483	NM_001276345.2(TNNT2):c.841A>T (p.Asn281Tyr)	TNNT2 (N265Y +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2950879	NM_001276345.2(TNNT2):c.840T>C (p.Asp280=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 3069835	NM_001276345.2(TNNT2):c.839A>G (p.Asp280Gly)	TNNT2 (D237G +7 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 469532	NM_001276345.2(TNNT2):c.838G>T (p.Asp280Tyr)	TNNT2 (D270Y +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 12417	NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn)	TNNT2 (D270N +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 3 +3 more	GUncertain significance
Select item 177855	NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys)	TNNT2 (N269K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 43672	NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)	TNNT2	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1352980	NM_001276345.2(TNNT2):c.836A>G (p.Asn279Ser)	TNNT2 (N236S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +2 more	GUncertain significance
Select item 181648	NM_001276345.2(TNNT2):c.835A>T (p.Asn279Tyr)	TNNT2 (N269Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 181647	NM_001276345.2(TNNT2):c.835A>G (p.Asn279Asp)	TNNT2 (N269D +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +4 more	GUncertain significance
Select item 1332673	NM_001276345.2(TNNT2):c.834C>T (p.Ile278=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 469531	NM_001276345.2(TNNT2):c.828C>T (p.Asn276=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 181646	NM_001276345.2(TNNT2):c.824G>A (p.Arg275Gln)	TNNT2 (R265Q +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 667022	NM_001276345.2(TNNT2):c.823C>T (p.Arg275Ter)	TNNT2 (R262* +5 more)	Single nucleotide variant (nonsense)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 644806	NM_001276345.2(TNNT2):c.823C>A (p.Arg275=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 3232332	NM_001276345.2(TNNT2):c.820C>A (p.Leu274Ile)	TNNT2 (L231I +7 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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