ClinVar for MedGen (Select 316943) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 621

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255093	NM_001276345.2(TNNT2):c.175G>C (p.Glu59Gln)	TNNT2 (E44Q +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D	GUncertain significance
Select item 3254590	NM_001276345.2(TNNT2):c.284T>A (p.Val95Glu)	TNNT2 (V80E +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D	GUncertain significance
Select item 2954509	NM_001276345.2(TNNT2):c.714G>A (p.Gln238=)	TNNT2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1D +2 more	GLikely benign
Select item 2954319	NM_001276345.2(TNNT2):c.720-14C>G	TNNT2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1D +2 more	GLikely benign
Select item 2954136	NM_001276345.2(TNNT2):c.251T>G (p.Leu84Trp)	TNNT2 (L74W +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +2 more	GUncertain significance
Select item 2953536	NM_001276345.2(TNNT2):c.425C>T (p.Ala142Val)	TNNT2 (A127V +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2953476	NM_001276345.2(TNNT2):c.295-11T>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2953222	NM_001276345.2(TNNT2):c.505C>G (p.Arg169Gly)	TNNT2 (R158G +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2952505	NM_001276345.2(TNNT2):c.98-13T>C	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2951920	NM_001276345.2(TNNT2):c.507A>G (p.Arg169=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2951810	NM_001276345.2(TNNT2):c.264G>C (p.Lys88Asn)	TNNT2 (K87N +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2951746	NM_001276345.2(TNNT2):c.67+5G>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +3 more	GUncertain significance
Select item 2951705	NM_001276345.2(TNNT2):c.218C>A (p.Ser73Tyr)	TNNT2 (S63Y +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2951177	NM_001276345.2(TNNT2):c.771G>C (p.Lys257Asn)	TNNT2 (K242N +7 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2950981	NM_001276345.2(TNNT2):c.52+18T>C	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
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 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 2950575	NM_001276345.2(TNNT2):c.200-11A>T	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2950512	NM_001276345.2(TNNT2):c.600+13CAG[3]	TNNT2	Microsatellite (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2949698	NM_001276345.2(TNNT2):c.420T>C (p.Arg140=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2948317	NM_001276345.2(TNNT2):c.41+14G>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 2947074	NM_001276345.2(TNNT2):c.322G>C (p.Asp108His)	TNNT2 (D97H +3 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2945801	NM_001276345.2(TNNT2):c.818_819insACTCCGAAACAGGATCAACGT (p.Asn279_Asp280insValLeuArgAsnArgIleAsn)	TNNT2	Insertion (inframe_insertion)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2945008	NM_001276345.2(TNNT2):c.42-11G>C	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2944535	NM_001276345.2(TNNT2):c.234-13C>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2944218	NM_001276345.2(TNNT2):c.52G>T (p.Glu18Ter)	TNNT2 (E18*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2944143	NM_001276345.2(TNNT2):c.58G>T (p.Ala20Ser)	TNNT2 (A20S)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2943802	NM_001276345.2(TNNT2):c.323A>T (p.Asp108Val)	TNNT2 (D108V +3 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2943501	NM_001276345.2(TNNT2):c.200-15T>G	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2942961	NM_001276345.2(TNNT2):c.272_274del (p.Asp91del)	TNNT2 (D91del +4 more)	Deletion (inframe_deletion)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2942492	NM_001276345.2(TNNT2):c.632G>C (p.Arg211Thr)	TNNT2 (R200T +7 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2942464	NM_001276345.2(TNNT2):c.558G>A (p.Lys186=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2942386	NM_001276345.2(TNNT2):c.304C>G (p.Arg102Gly)	TNNT2 (R92G +3 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 2 +2 more	GLikely pathogenic
Select item 2942251	NM_001276345.2(TNNT2):c.397C>T (p.Leu133Phe)	TNNT2 (L118F +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +3 more	GUncertain significance
Select item 2941703	NM_001276345.2(TNNT2):c.650AGA[2] (p.Lys219_Lys220del)	TNNT2	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2941432	NM_001276345.2(TNNT2):c.807T>C (p.Tyr269=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2940504	NM_001276345.2(TNNT2):c.42-5C>G	TNNT2	Single nucleotide variant (intron 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 2939767	NM_001276345.2(TNNT2):c.668C>T (p.Ala223Val)	TNNT2 (A207V +7 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2939571	NM_001276345.2(TNNT2):c.281G>T (p.Arg94Ile)	TNNT2 (R79I +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 2939274	NM_001276345.2(TNNT2):c.609+1G>A	TNNT2	Single nucleotide variant (intron variant +1 more)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2939263	NM_001276345.2(TNNT2):c.314T>C (p.Met105Thr)	TNNT2 (M90T +3 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 2 +2 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 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 2937583	NM_001276345.2(TNNT2):c.161A>T (p.Glu54Val)	TNNT2 (E54V +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2934884	NM_001276345.2(TNNT2):c.851+6T>A	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 2934755	NM_001276345.2(TNNT2):c.279G>A (p.Glu93=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2934672	NM_001276345.2(TNNT2):c.407G>T (p.Arg136Met)	TNNT2 (R121M +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +3 more	GUncertain significance
Select item 2933895	NM_001276345.2(TNNT2):c.547C>A (p.Arg183=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2933699	NM_001276345.2(TNNT2):c.124G>T (p.Ala42Ser)	TNNT2 (A42S +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2933520	NM_001276345.2(TNNT2):c.55G>T (p.Ala19Ser)	TNNT2 (A19S)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2933133	NM_001276345.2(TNNT2):c.811-18T>C	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2932877	NM_001276345.2(TNNT2):c.184G>A (p.Ala62Thr)	TNNT2 (A61T +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2932354	NM_001276345.2(TNNT2):c.659A>C (p.Lys220Thr)	TNNT2 (K204T +7 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 2932165	NM_001276345.2(TNNT2):c.134A>G (p.Glu45Gly)	TNNT2 (E35G +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2931180	NM_001276345.2(TNNT2):c.719+17A>G	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2930449	NM_001276345.2(TNNT2):c.164-15T>C	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2930205	NM_001276345.2(TNNT2):c.199+5G>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2929714	NM_001276345.2(TNNT2):c.753T>C (p.Tyr251=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2929617	NM_001276345.2(TNNT2):c.42-18_42-17del	TNNT2	Microsatellite (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2929346	NM_001276345.2(TNNT2):c.295-11T>G	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 2928936	NM_001276345.2(TNNT2):c.98-19G>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2928753	NM_001276345.2(TNNT2):c.67+18G>C	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2928705	NM_001276345.2(TNNT2):c.146A>T (p.Glu49Val)	TNNT2 (E34V +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2928390	NM_001276345.2(TNNT2):c.489+18del	TNNT2	Deletion (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2928319	NM_001276345.2(TNNT2):c.42-8G>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2927802	NM_001276345.2(TNNT2):c.600+13C>T	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2926550	NM_001276345.2(TNNT2):c.490-11C>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2926519	NM_001276345.2(TNNT2):c.199+13G>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2925760	NM_001276345.2(TNNT2):c.180G>C (p.Glu60Asp)	TNNT2 (E45D +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2925200	NM_001276345.2(TNNT2):c.528G>A (p.Arg176=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2925034	NM_001276345.2(TNNT2):c.200-16C>G	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2924560	NM_001276345.2(TNNT2):c.811-17T>C	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2923018	NM_001276345.2(TNNT2):c.52+13_52+17dup	TNNT2	Duplication (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2922569	NM_001276345.2(TNNT2):c.163+8T>C	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2922364	NM_001276345.2(TNNT2):c.112G>A (p.Ala38Thr)	TNNT2 (A28T +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2922081	NM_001276345.2(TNNT2):c.600G>A (p.Lys200=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2921642	NM_001276345.2(TNNT2):c.768G>C (p.Glu256Asp)	TNNT2 (E241D +7 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 3 +2 more	GUncertain significance
Select item 2921549	NM_001276345.2(TNNT2):c.400A>G (p.Lys134Glu)	TNNT2 (K119E +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy, familial restrictive, 3 +2 more	GConflicting classifications of pathogenicity
Select item 2921425	NM_001276345.2(TNNT2):c.571A>T (p.Met191Leu)	TNNT2 (M176L +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 3 +2 more	GUncertain significance
Select item 2774644	NM_001276345.2(TNNT2):c.147G>A (p.Glu49=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 2774642	NM_001276345.2(TNNT2):c.164-14C>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +3 more	GUncertain significance
Select item 2774639	NM_001276345.2(TNNT2):c.234-13C>T	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GLikely benign
Select item 2774630	NM_001276345.2(TNNT2):c.720-32_720-14dup	TNNT2	Duplication (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 2582446	NM_001276345.2(TNNT2):c.433del (p.Ala145fs)	TNNT2 (A105fs +4 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1D	GLikely pathogenic
Select item 2423449	NC_000001.10:g.(?_201328338)_(201342382_?)dup	TNNT2	Duplication	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2417605	NM_001276345.2(TNNT2):c.114G>T (p.Ala38=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2413929	NM_001276345.2(TNNT2):c.234G>A (p.Arg78=)	TNNT2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1D +2 more	GUncertain significance
Select item 2202921	NM_001276345.2(TNNT2):c.290T>A (p.Phe97Tyr)	TNNT2 (F86Y +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely pathogenic
Select item 2202920	NM_001276345.2(TNNT2):c.290T>G (p.Phe97Cys)	TNNT2 (F87C +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely pathogenic
Select item 2202919	NM_001276345.2(TNNT2):c.502C>T (p.Arg168Ter)	TNNT2 (R128* +4 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 2 +3 more	GUncertain significance
Select item 2202885	NM_001276345.2(TNNT2):c.295-18G>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2200979	NM_001276345.2(TNNT2):c.739T>C (p.Trp247Arg)	TNNT2 (W232R +7 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2199768	NM_001276345.2(TNNT2):c.770A>C (p.Lys257Thr)	TNNT2 (K254T +7 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2196513	NM_001276345.2(TNNT2):c.490-14C>G	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy, familial restrictive, 3 +3 more	GConflicting classifications of pathogenicity
Select item 2196138	NM_001276345.2(TNNT2):c.234-6C>T	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy, familial restrictive, 3 +2 more	GLikely benign
Select item 2196009	NM_001276345.2(TNNT2):c.500C>G (p.Ala167Gly)	TNNT2 (A127G +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 3 +2 more	GUncertain significance
Select item 2193633	NM_001276345.2(TNNT2):c.294+11G>A	TNNT2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1D +2 more	GUncertain significance

<< First< Prev

Page of 7