ClinVar for MedGen (Select 316943) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24234491.	NC_000001.10:g.(?_201328338)_(201342382_?)dup GRCh37: Chr1:201328338-201342382	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 24176052.	NM_001276345.2(TNNT2):c.114G>T (p.Ala38=) GRCh37: Chr1:201337339 GRCh38: Chr1:201368211	TNNT2		Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 24139293.	NM_001276345.2(TNNT2):c.234G>A (p.Arg78=) GRCh37: Chr1:201334798 GRCh38: Chr1:201365670	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 22029214.	NM_001276345.2(TNNT2):c.290T>A (p.Phe97Tyr) GRCh37: Chr1:201334742 GRCh38: Chr1:201365614	TNNT2	F86Y, F96Y, F87Y, F82Y, F97Y	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 22029205.	NM_001276345.2(TNNT2):c.290T>G (p.Phe97Cys) GRCh37: Chr1:201334742 GRCh38: Chr1:201365614	TNNT2	F87C, F96C, F97C, F82C, F86C	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 22029196.	NM_001276345.2(TNNT2):c.502C>T (p.Arg168Ter) GRCh37: Chr1:201332522 GRCh38: Chr1:201363394	TNNT2	R128, R168, R153, R157, R158*	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 22028857.	NM_001276345.2(TNNT2):c.295-18G>A GRCh37: Chr1:201334453 GRCh38: Chr1:201365325	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 22009798.	NM_001276345.2(TNNT2):c.739T>C (p.Trp247Arg) GRCh37: Chr1:201330478 GRCh38: Chr1:201361350	TNNT2	W232R, W234R, W236R, W237R, W204R, W231R, W244R, W247R	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 21997689.	NM_001276345.2(TNNT2):c.770A>C (p.Lys257Thr) GRCh37: Chr1:201330447 GRCh38: Chr1:201361319	TNNT2	K254T, K244T, K246T, K214T, K241T, K242T, K247T, K257T	Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 219651310.	NM_001276345.2(TNNT2):c.490-14C>G GRCh37: Chr1:201332548 GRCh38: Chr1:201363420	TNNT2		Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 219613811.	NM_001276345.2(TNNT2):c.234-6C>T GRCh37: Chr1:201334804 GRCh38: Chr1:201365676	TNNT2		Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 219600912.	NM_001276345.2(TNNT2):c.500C>G (p.Ala167Gly) GRCh37: Chr1:201332524 GRCh38: Chr1:201363396	TNNT2	A127G, A152G, A157G, A156G, A167G	Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 219363313.	NM_001276345.2(TNNT2):c.294+11G>A GRCh37: Chr1:201334727 GRCh38: Chr1:201365599	TNNT2		Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 217469614.	NM_001276345.2(TNNT2):c.497G>A (p.Arg166Lys) GRCh37: Chr1:201332527 GRCh38: Chr1:201363399	TNNT2	R166K, R156K, R126K, R151K, R155K	Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 217102715.	NM_001276345.2(TNNT2):c.98-9C>A GRCh37: Chr1:201337364 GRCh38: Chr1:201368236	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 215829816.	NM_001276345.2(TNNT2):c.448A>G (p.Ile150Val) GRCh37: Chr1:201333467 GRCh38: Chr1:201364339	TNNT2	I135V, I139V, I140V, I110V, I150V	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 214818017.	NM_001276345.2(TNNT2):c.811-11T>G GRCh37: Chr1:201328802 GRCh38: Chr1:201359674	TNNT2		Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 214720318.	NM_001276345.2(TNNT2):c.600+14A>G GRCh37: Chr1:201332410 GRCh38: Chr1:201363282	TNNT2		Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 214025919.	NM_001276345.2(TNNT2):c.233+3G>A GRCh37: Chr1:201335963 GRCh38: Chr1:201366835	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Cardiomyopathy	Uncertain significance (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213894020.	NM_001276345.2(TNNT2):c.235T>A (p.Ser79Thr) GRCh37: Chr1:201334797 GRCh38: Chr1:201365669	TNNT2	S78T, S79T, S69T, S64T, S68T	Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 213256121.	NM_001276345.2(TNNT2):c.159del (p.Glu54fs) GRCh37: Chr1:201337294 GRCh38: Chr1:201368166	TNNT2	E39fs, E54fs, E44fs	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 212540322.	NM_001276345.2(TNNT2):c.609+18C>T GRCh37: Chr1:201331496 GRCh38: Chr1:201362368	TNNT2		Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 212104923.	NM_001276345.2(TNNT2):c.53-11C>T GRCh37: Chr1:201341180 GRCh38: Chr1:201372052	TNNT2		Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 211954024.	NM_001276345.2(TNNT2):c.851T>C (p.Val284Ala) GRCh37: Chr1:201328751 GRCh38: Chr1:201359623	TNNT2	V281A, V268A, V269A, V271A, V273A, V284A, V241A, V274A	Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 211545625.	NM_001276345.2(TNNT2):c.445C>G (p.Arg149Gly) GRCh37: Chr1:201333470 GRCh38: Chr1:201364342	TNNT2	R134G, R149G, R138G, R109G, R139G	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 211216926.	NM_001276345.2(TNNT2):c.609+1G>T GRCh37: Chr1:201331513 GRCh38: Chr1:201362385	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 210717627.	NM_001276345.2(TNNT2):c.59C>A (p.Ala20Asp) GRCh37: Chr1:201341163 GRCh38: Chr1:201372035	TNNT2	A20D	Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 210313728.	NM_001276345.2(TNNT2):c.613G>C (p.Glu205Gln) GRCh37: Chr1:201331147 GRCh38: Chr1:201362019	TNNT2	E192Q, E202Q, E205Q, E189Q, E190Q, E195Q, E162Q, E194Q	Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 210078929.	NM_001276345.2(TNNT2):c.321G>C (p.Lys107Asn) GRCh37: Chr1:201334409 GRCh38: Chr1:201365281	TNNT2	K96N, K97N, K107N, K92N	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Pathogenic (Feb 21, 2022)	criteria provided, single submitter
Select item 209908030.	NM_001276345.2(TNNT2):c.732G>A (p.Lys244=) GRCh37: Chr1:201330485 GRCh38: Chr1:201361357	TNNT2		Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 208846131.	NM_001276345.2(TNNT2):c.63dup (p.Glu22Ter) GRCh37: Chr1:201341158-201341159 GRCh38: Chr1:201372030-201372031	TNNT2	E22*	Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 208784132.	NM_001276345.2(TNNT2):c.476A>C (p.Gln159Pro) GRCh37: Chr1:201333439 GRCh38: Chr1:201364311	TNNT2	Q119P, Q149P, Q159P, Q144P, Q148P	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 208717133.	NM_001276345.2(TNNT2):c.352G>A (p.Ala118Thr) GRCh37: Chr1:201334378 GRCh38: Chr1:201365250	TNNT2	A107T, A118T, A103T, A108T	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 208629034.	NM_001276345.2(TNNT2):c.163+17G>A GRCh37: Chr1:201337273 GRCh38: Chr1:201368145	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 208302435.	NM_001276345.2(TNNT2):c.314T>A (p.Met105Lys) GRCh37: Chr1:201334416 GRCh38: Chr1:201365288	TNNT2	M94K, M95K, M90K, M105K	Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 207381536.	NM_001276345.2(TNNT2):c.709G>A (p.Asp237Asn) GRCh37: Chr1:201331051 GRCh38: Chr1:201361923	TNNT2	D221N, D227N, D234N, D222N, D224N, D194N, D237N, D226N	Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 206904437.	NM_001276345.2(TNNT2):c.811-5T>G GRCh37: Chr1:201328796 GRCh38: Chr1:201359668	TNNT2		Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 206306838.	NM_001276345.2(TNNT2):c.576G>A (p.Met192Ile) GRCh37: Chr1:201332448 GRCh38: Chr1:201363320	TNNT2	M181I, M182I, M192I, M152I, M177I	Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 206028939.	NM_001276345.2(TNNT2):c.600+14A>T GRCh37: Chr1:201332410 GRCh38: Chr1:201363282	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 203972340.	NM_001276345.2(TNNT2):c.617G>T (p.Arg206Leu) GRCh37: Chr1:201331143 GRCh38: Chr1:201362015	TNNT2	R190L, R163L, R191L, R195L, R206L, R193L, R196L, R203L	Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 203700541.	NM_001276345.2(TNNT2):c.213G>A (p.Glu71=) GRCh37: Chr1:201335986 GRCh38: Chr1:201366858	TNNT2		Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 203144142.	NM_001276345.2(TNNT2):c.295-17C>T GRCh37: Chr1:201334452 GRCh38: Chr1:201365324	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 202350643.	NM_001276345.2(TNNT2):c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG (p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGluSer) GRCh37: Chr1:201334739-201334742 GRCh38: Chr1:201365611-201365614	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 201958444.	NM_001276345.2(TNNT2):c.378G>A (p.Glu126=) GRCh37: Chr1:201334352 GRCh38: Chr1:201365224	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 201640745.	NM_001276345.2(TNNT2):c.610-9A>C GRCh37: Chr1:201331159 GRCh38: Chr1:201362031	TNNT2		Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 201417446.	NM_001276345.2(TNNT2):c.550A>C (p.Lys184Gln) GRCh37: Chr1:201332474 GRCh38: Chr1:201363346	TNNT2	K169Q, K173Q, K184Q, K144Q, K174Q	Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 201174847.	NM_001276345.2(TNNT2):c.282_285dup (p.Asp96fs) GRCh37: Chr1:201334746-201334747 GRCh38: Chr1:201365618-201365619	TNNT2	D95fs, D86fs, D96fs, D81fs	Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 200562048.	NM_001276345.2(TNNT2):c.149A>G (p.Glu50Gly) GRCh37: Chr1:201337304 GRCh38: Chr1:201368176	TNNT2	E35G, E40G, E50G	Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 200231649.	NM_001276345.2(TNNT2):c.199+4A>G GRCh37: Chr1:201336895 GRCh38: Chr1:201367767	TNNT2		Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 200010050.	NM_001276345.2(TNNT2):c.861C>T (p.Thr287=) GRCh37: Chr1:201328374 GRCh38: Chr1:201359246	TNNT2		Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 199817851.	NM_001276345.2(TNNT2):c.811-7C>T GRCh37: Chr1:201328798 GRCh38: Chr1:201359670	TNNT2		Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 199779752.	NM_001276345.2(TNNT2):c.164-5T>C GRCh37: Chr1:201336939 GRCh38: Chr1:201367811	TNNT2		Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 199717553.	NM_001276345.2(TNNT2):c.601-7G>T GRCh37: Chr1:201331529 GRCh38: Chr1:201362401	TNNT2		Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 199717154.	NM_001276345.2(TNNT2):c.248A>C (p.Asn83Thr) GRCh37: Chr1:201334784 GRCh38: Chr1:201365656	TNNT2	N72T, N82T, N83T, N73T, N68T	Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Cardiovascular phenotype	Uncertain significance (Jan 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 197733955.	NM_001276345.2(TNNT2):c.810+18C>T GRCh37: Chr1:201330389 GRCh38: Chr1:201361261	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 197558556.	NM_001276345.2(TNNT2):c.811-8del GRCh37: Chr1:201328799 GRCh38: Chr1:201359671	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Benign (May 16, 2022)	criteria provided, single submitter
Select item 196525357.	NM_001276345.2(TNNT2):c.42-12T>C GRCh37: Chr1:201341295 GRCh38: Chr1:201372167	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 196253658.	NM_001276345.2(TNNT2):c.67+20G>A GRCh37: Chr1:201341135 GRCh38: Chr1:201372007	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 194785259.	NM_001276345.2(TNNT2):c.715C>T (p.Leu239=) GRCh37: Chr1:201331045 GRCh38: Chr1:201361917	TNNT2		Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D	Likely benign (Nov 29, 2021)	criteria provided, single submitter
Select item 191707860.	NM_001276345.2(TNNT2):c.610-4C>A GRCh37: Chr1:201331154 GRCh38: Chr1:201362026	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 190619261.	NM_001276345.2(TNNT2):c.40G>T (p.Glu14Ter) GRCh37: Chr1:201342343 GRCh38: Chr1:201373215	TNNT2	E14*	Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 190610962.	NM_001276345.2(TNNT2):c.61G>A (p.Val21Ile) GRCh37: Chr1:201341161 GRCh38: Chr1:201372033	TNNT2	V21I	Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 190155463.	NM_001276345.2(TNNT2):c.610-12C>T GRCh37: Chr1:201331162 GRCh38: Chr1:201362034	TNNT2		Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 189743564.	NM_001276345.2(TNNT2):c.736C>T (p.Leu246=) GRCh37: Chr1:201330481 GRCh38: Chr1:201361353	TNNT2		Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 189607765.	NM_001276345.2(TNNT2):c.200-8T>C GRCh37: Chr1:201336007 GRCh38: Chr1:201366879	TNNT2		Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 189589466.	NM_001276345.2(TNNT2):c.719+18T>C GRCh37: Chr1:201331023 GRCh38: Chr1:201361895	TNNT2		Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 188143267.	NM_001276345.2(TNNT2):c.600+20G>T GRCh37: Chr1:201332404 GRCh38: Chr1:201363276	TNNT2		Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 180500868.	NM_001276345.2(TNNT2):c.412-200G>C GRCh37: Chr1:201333703 GRCh38: Chr1:201364575	TNNT2		Dilated cardiomyopathy 1D	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 180222669.	NM_001276345.2(TNNT2):c.626G>A (p.Gly209Glu) GRCh37: Chr1:201331134 GRCh38: Chr1:201362006	TNNT2	G166E, G193E, G194E, G196E, G198E, G199E, G206E, G209E	Dilated cardiomyopathy 1D	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 179900370.	NM_001276345.2(TNNT2):c.332A>G (p.Glu111Gly) GRCh37: Chr1:201334398 GRCh38: Chr1:201365270	TNNT2	E100G, E101G, E96G, E111G	Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D, Cardiovascular phenotype	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177012871.	NM_001276345.2(TNNT2):c.163+2T>C GRCh37: Chr1:201337288 GRCh38: Chr1:201368160	TNNT2		Cardiovascular phenotype, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Uncertain significance (Jan 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175919972.	NM_001276345.2(TNNT2):c.104A>T (p.Glu35Val) GRCh37: Chr1:201337349 GRCh38: Chr1:201368221	TNNT2	E20V, E25V, E35V	Cardiovascular phenotype, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175043473.	NM_001276345.2(TNNT2):c.620A>G (p.Lys207Arg) GRCh37: Chr1:201331140 GRCh38: Chr1:201362012	TNNT2	K192R, K194R, K197R, K204R, K191R, K196R, K164R, K207R	Cardiovascular phenotype, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3	Uncertain significance (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173297774.	NM_001276345.2(TNNT2):c.388C>G (p.Leu130Val) GRCh37: Chr1:201334342 GRCh38: Chr1:201365214	TNNT2	L130V, L115V, L119V, L120V	Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D, Cardiovascular phenotype	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172971075.	NM_001276345.2(TNNT2):c.357C>T (p.His119=) GRCh37: Chr1:201334373 GRCh38: Chr1:201365245	TNNT2		Cardiovascular phenotype, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171988976.	NM_001276345.2(TNNT2):c.868A>G (p.Lys290Glu) GRCh37: Chr1:201328367 GRCh38: Chr1:201359239	TNNT2	K247E, K274E, K275E, K277E, K279E, K280E, K287E, K290E	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 171791777.	NM_001276345.2(TNNT2):c.224C>A (p.Pro75Gln) GRCh37: Chr1:201335975 GRCh38: Chr1:201366847	TNNT2	P60Q, P64Q, P65Q, P74Q, P75Q	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 171779078.	NM_001276345.2(TNNT2):c.295G>C (p.Asp99His) GRCh37: Chr1:201334435 GRCh38: Chr1:201365307	TNNT2	D84H, D88H, D89H, D99H	Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 171512379.	NM_001276345.2(TNNT2):c.624T>G (p.Ser208Arg) GRCh37: Chr1:201331136 GRCh38: Chr1:201362008	TNNT2	S165R, S192R, S193R, S195R, S197R, S198R, S205R, S208R	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 170192280.	NM_001276345.2(TNNT2):c.68-2A>G GRCh37: Chr1:201338975 GRCh38: Chr1:201369847	TNNT2		Dilated cardiomyopathy 1D	Likely pathogenic (Feb 1, 2013)	criteria provided, single submitter
Select item 167778381.	NM_001276345.2(TNNT2):c.295-1G>A GRCh37: Chr1:201334436 GRCh38: Chr1:201365308	TNNT2		not provided, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166363982.	NM_001276345.2(TNNT2):c.453G>C (p.Arg151=) GRCh37: Chr1:201333462 GRCh38: Chr1:201364334	TNNT2		Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 165847983.	NM_001276345.2(TNNT2):c.164-14C>T GRCh37: Chr1:201336948 GRCh38: Chr1:201367820	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Jun 7, 2021)	criteria provided, single submitter
Select item 165728984.	NM_001276345.2(TNNT2):c.366C>T (p.Asn122=) GRCh37: Chr1:201334364 GRCh38: Chr1:201365236	TNNT2		Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 163830585.	NM_001276345.2(TNNT2):c.465G>A (p.Glu155=) GRCh37: Chr1:201333450 GRCh38: Chr1:201364322	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Jan 20, 2021)	criteria provided, single submitter
Select item 163694086.	NM_001276345.2(TNNT2):c.444G>A (p.Gln148=) GRCh37: Chr1:201333471 GRCh38: Chr1:201364343	TNNT2		Cardiovascular phenotype, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163233487.	NM_001276345.2(TNNT2):c.233+9G>A GRCh37: Chr1:201335957 GRCh38: Chr1:201366829	TNNT2		Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 162968388.	NM_001276345.2(TNNT2):c.164-13G>A GRCh37: Chr1:201336947 GRCh38: Chr1:201367819	TNNT2		Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 162686689.	NM_001276345.2(TNNT2):c.325C>T (p.Leu109=) GRCh37: Chr1:201334405 GRCh38: Chr1:201365277	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 162011490.	NM_001276345.2(TNNT2):c.237G>T (p.Ser79=) GRCh37: Chr1:201334795 GRCh38: Chr1:201365667	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Apr 5, 2021)	criteria provided, single submitter
Select item 161787091.	NM_001276345.2(TNNT2):c.233+10G>A GRCh37: Chr1:201335956 GRCh38: Chr1:201366828	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Sep 25, 2021)	criteria provided, single submitter
Select item 161467192.	NM_001276345.2(TNNT2):c.600+11A>G GRCh37: Chr1:201332413 GRCh38: Chr1:201363285	TNNT2		Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 161364793.	NM_001276345.2(TNNT2):c.696C>T (p.Asp232=) GRCh37: Chr1:201331064 GRCh38: Chr1:201361936	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Jun 24, 2021)	criteria provided, single submitter
Select item 161020094.	NM_001276345.2(TNNT2):c.719+13A>G GRCh37: Chr1:201331028 GRCh38: Chr1:201361900	TNNT2		Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 159654995.	NM_001276345.2(TNNT2):c.300C>T (p.Ile100=) GRCh37: Chr1:201334430 GRCh38: Chr1:201365302	TNNT2		Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Likely benign (Jun 8, 2021)	criteria provided, single submitter
Select item 158857496.	NM_001276345.2(TNNT2):c.852-7C>T GRCh37: Chr1:201328390 GRCh38: Chr1:201359262	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Apr 30, 2021)	criteria provided, single submitter
Select item 158185897.	NM_001276345.2(TNNT2):c.68-6C>A GRCh37: Chr1:201338979 GRCh38: Chr1:201369851	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Aug 14, 2021)	criteria provided, single submitter
Select item 158038498.	NM_001276345.2(TNNT2):c.411+18C>T GRCh37: Chr1:201334301 GRCh38: Chr1:201365173	TNNT2		Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 157324099.	NM_001276345.2(TNNT2):c.52+16T>C GRCh37: Chr1:201341257 GRCh38: Chr1:201372129	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 1569967100.	NM_001276345.2(TNNT2):c.199+12A>G GRCh37: Chr1:201336887 GRCh38: Chr1:201367759	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely benign (Sep 8, 2021)	criteria provided, single submitter

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