C2676271[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 212

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1106650	NM_001276345.2(TNNT2):c.897G>A (p.Ter299=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
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 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 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 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 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 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 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 43674	NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)	TNNT2 (R278H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 43671	NM_001276345.2(TNNT2):c.815A>G (p.Asn272Ser)	TNNT2 (N262S +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 922494	NM_001276345.2(TNNT2):c.812T>G (p.Ile271Ser)	TNNT2 (I228S +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 3 +3 more	GUncertain significance
Select item 256846	NM_001276345.2(TNNT2):c.811-33C>T	TNNT2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1D +4 more	GBenign
Select item 671265	NM_001276345.2(TNNT2):c.811-122C>G	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +3 more	GBenign
Select item 181633	NM_001276345.2(TNNT2):c.810+5G>A	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 1008868	NM_001276345.2(TNNT2):c.810+1G>A	TNNT2	Single nucleotide variant (splice donor variant)	not provided +3 more	GUncertain significance
Select item 430315	NM_001276345.2(TNNT2):c.808G>A (p.Glu270Lys)	TNNT2 (E260K +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +4 more	GUncertain significance
Select item 450191	NM_001276345.2(TNNT2):c.806A>G (p.Tyr269Cys)	TNNT2 (Y259C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 181632	NM_001276345.2(TNNT2):c.805T>C (p.Tyr269His)	TNNT2 (Y259H +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 43669	NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)	TNNT2 (K253R +5 more)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +11 more	GBenign/Likely benign
Select item 404398	NM_001276345.2(TNNT2):c.779T>C (p.Leu260Pro)	TNNT2 (L250P +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +5 more	GUncertain significance
Select item 537264	NM_001276345.2(TNNT2):c.778C>T (p.Leu260=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +3 more	GLikely benign
Select item 181630	NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn)	TNNT2 (D249N +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 43668	NM_001276345.2(TNNT2):c.774C>T (p.Phe258=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 181645	NM_001276345.2(TNNT2):c.772T>G (p.Phe258Val)	TNNT2 (F248V +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 181629	NM_001276345.2(TNNT2):c.772T>C (p.Phe258Leu)	TNNT2 (F248L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +5 more	GUncertain significance
Select item 191800	NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys)	TNNT2 (Y241C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 469528	NM_001276345.2(TNNT2):c.721G>C (p.Glu241Gln)	TNNT2 (E231Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 755790	NM_001276345.2(TNNT2):c.720-6G>T	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +3 more	GLikely benign
Select item 1171991	NM_001276345.2(TNNT2):c.720-10G>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +3 more	GLikely benign
Select item 628663	NM_001276345.2(TNNT2):c.720-13C>G	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GLikely benign
Select item 923487	NM_001276345.2(TNNT2):c.720-14C>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +3 more	GLikely benign
Select item 165538	NM_001276345.2(TNNT2):c.719+13A>C	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +3 more	GLikely benign
Select item 1172229	NM_001276345.2(TNNT2):c.719G>A (p.Arg240Lys)	TNNT2 (R197K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 181627	NM_001276345.2(TNNT2):c.712C>G (p.Gln238Glu)	TNNT2 (Q228E +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +4 more	GUncertain significance
Select item 181626	NM_001276345.2(TNNT2):c.706G>A (p.Glu236Lys)	TNNT2 (E226K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +5 more	GUncertain significance
Select item 294895	NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val)	TNNT2 (I228V +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 3 +9 more	GUncertain significance
Select item 518816	NM_001276345.2(TNNT2):c.677G>A (p.Arg226Lys)	TNNT2 (R216K +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +4 more	GUncertain significance
Select item 43659	NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)	TNNT2 (K210del +5 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 836380	NM_001276345.2(TNNT2):c.659A>T (p.Lys220Met)	TNNT2 (K210M +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 1750434	NM_001276345.2(TNNT2):c.620A>G (p.Lys207Arg)	TNNT2 (K192R +7 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 537255	NM_001276345.2(TNNT2):c.617G>A (p.Arg206Gln)	TNNT2 (R203Q +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +5 more	GUncertain significance
Select item 642953	NM_001276345.2(TNNT2):c.614_615del (p.Glu205fs)	TNNT2 (E189fs +5 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1D +4 more	GUncertain significance
Select item 933456	NM_001276345.2(TNNT2):c.614A>G (p.Glu205Gly)	TNNT2 (E192G +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 181624	NM_001276345.2(TNNT2):c.613G>A (p.Glu205Lys)	TNNT2 (E195K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +4 more	GUncertain significance
Select item 1332160	NM_001276345.2(TNNT2):c.611C>T (p.Thr204Ile)	TNNT2 (T161I +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 3 +4 more	GUncertain significance
Select item 811582	NM_001276345.2(TNNT2):c.610-81C>T	TNNT2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 627650	NM_001276345.2(TNNT2):c.610-90G>A	TNNT2	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 569640	NM_001276345.2(TNNT2):c.609+3G>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +4 more	GUncertain significance
Select item 132940	NM_001276345.2(TNNT2):c.601-1G>A	TNNT2	Single nucleotide variant (intron variant +1 more)	Hypertrophic cardiomyopathy 2 +7 more	GConflicting classifications of pathogenicity
Select item 412947	NM_001276345.2(TNNT2):c.601-6G>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +4 more	GLikely benign
Select item 256845	NM_001276345.2(TNNT2):c.601-32A>C	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy, familial restrictive, 3 +4 more	GBenign
Select item 238203	NM_001276345.2(TNNT2):c.593T>C (p.Ile198Thr)	TNNT2 (I188T +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +3 more	GUncertain significance
Select item 626364	NM_001276345.2(TNNT2):c.572T>C (p.Met191Thr)	TNNT2 (M181T +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +3 more	GUncertain significance
Select item 1171535	NM_001276345.2(TNNT2):c.570C>T (p.Asn190=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +3 more	GLikely benign
Select item 43655	NM_001276345.2(TNNT2):c.567C>T (p.Ser189=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 177634	NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe)	TNNT2 (S179F +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +4 more	GPathogenic/Likely pathogenic
Select item 43654	NM_001276345.2(TNNT2):c.564G>C (p.Leu188Phe)	TNNT2 (L178F +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +4 more	GUncertain significance
Select item 807897	NM_001276345.2(TNNT2):c.550AAG[2] (p.Lys186del)	TNNT2 (K186del +3 more)	Microsatellite (inframe_deletion)	Cardiomyopathy +3 more	GUncertain significance
Select item 387041	NM_001276345.2(TNNT2):c.552G>A (p.Lys184=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 43649	NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)	TNNT2 (R173Q +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +5 more	GPathogenic/Likely pathogenic
Select item 228409	NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)	TNNT2 (R173W +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 1305440	NM_001276345.2(TNNT2):c.529A>G (p.Lys177Glu)	TNNT2 (K137E +3 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 3 +3 more	GUncertain significance
Select item 181621	NM_001276345.2(TNNT2):c.522C>A (p.Asn174Lys)	TNNT2 (N164K +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 132941	NM_001276345.2(TNNT2):c.522C>T (p.Asn174=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 1470217	NM_001276345.2(TNNT2):c.518A>G (p.Glu173Gly)	TNNT2 (E133G +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +3 more	GUncertain significance
Select item 572139	NM_001276345.2(TNNT2):c.493G>T (p.Glu165Ter)	TNNT2 (E165* +3 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1D +2 more	GUncertain significance
Select item 389581	NM_001276345.2(TNNT2):c.489+18C>T	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy, familial restrictive, 3 +3 more	GLikely benign
Select item 961661	NM_001276345.2(TNNT2):c.487G>T (p.Ala163Ser)	TNNT2 (A148S +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +5 more	GUncertain significance
Select item 437410	NM_001276345.2(TNNT2):c.482G>A (p.Arg161His)	TNNT2 (R146H +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 537256	NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys)	TNNT2 (R161C +3 more)	Single nucleotide variant (missense variant)	TNNT2-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 43641	NM_001276345.2(TNNT2):c.474G>C (p.Arg158=)	TNNT2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +8 more	GBenign/Likely benign
Select item 181618	NM_001276345.2(TNNT2):c.473G>A (p.Arg158Gln)	TNNT2 (R148Q +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 181643	NM_001276345.2(TNNT2):c.472C>T (p.Arg158Trp)	TNNT2 (R148W +3 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 469524	NM_001276345.2(TNNT2):c.463G>A (p.Glu155Lys)	TNNT2 (E155K +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 404394	NM_001276345.2(TNNT2):c.461G>A (p.Arg154Gln)	TNNT2 (R144Q +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 469523	NM_001276345.2(TNNT2):c.459G>A (p.Glu153=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +3 more	GLikely benign
Select item 1663639	NM_001276345.2(TNNT2):c.453G>C (p.Arg151=)	TNNT2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 43643	NM_001276345.2(TNNT2):c.451C>A (p.Arg151=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 12414	NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)	TNNT2 (R141W +3 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic
Select item 516901	NM_001276345.2(TNNT2):c.450C>T (p.Ile150=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +5 more	GLikely benign
Select item 1636940	NM_001276345.2(TNNT2):c.444G>A (p.Gln148=)	TNNT2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1D +4 more	GLikely benign
Select item 496076	NM_001276345.2(TNNT2):c.441G>A (p.Gln147=)	TNNT2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 180552	NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys)	TNNT2 (E136K +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +4 more	GUncertain significance
Select item 703092	NM_001276345.2(TNNT2):c.435C>T (p.Ala145=)	TNNT2	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign

<< First< Prev

Page of 3