7134[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 577711.	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 GRCh37: Chr3:49498433-55348528 GRCh38: Chr3:49461000-55314500	ABHD14A, ABHD14A-ACY1, ABHD14B, ACTR8, ACY1, ALAS1, AMIGO3, APEH, BAP1, BSN, BSN-DT, C3orf18, CACNA1D, CACNA2D2, CACNA2D3, CACNA2D3-AS1, CAMKV, CDHR4, CHDH, CISH, CYB561D2, DAG1, DCAF1, DCP1A, DNAH1, DOCK3, DUSP7, ESRG, GLT8D1, GLYCTK, GLYCTK-AS1, GMPPB, GNAI2, GNAT1, GNL3, GPR62, GRM2, HEMK1, HYAL1, HYAL2, HYAL3, IFRD2, IL17RB, INKA1, IP6K1, IQCF1, IQCF2, IQCF3, IQCF5, IQCF5-AS1, IQCF6, ITIH1, ITIH3, ITIH4, ITIH4-AS1, LINC00696, LINC02017, LINC02019, LINC02030, LOC101928965, LOC110121103, LOC110121200, LOC110121270, LOC112935947, LOC112935948, LOC112935949, LOC112935950, LOC114004379, LOC114004380, LOC115995511, LOC121009668, LOC121009669, LOC121009670, LOC121009671, LOC121009672, LOC121725145, LOC121725146, LOC122889088, LOC122889089, LOC122889090, LOC122965306, LOC122965307, LOC122965308, LOC122965309, LOC122965310, LOC122965311, LOC126806677, LOC126806678, LOC126806679, LOC126806680, LOC126806681, LOC126806682, LOC126806683, LOC126806684, LOC126806685, LOC126806686, LOC126806687, LOC127898564, LRTM1, LSMEM2, MANF, MAPKAPK3, MIR135A1, MIR4787, MIR5193, MIR566, MIR5787, MIR6872, MIR8064, MIRLET7G, MON1A, MST1, MST1R, MUSTN1, NAA80, NEK4, NISCH, NPRL2, NT5DC2, PARP3, PBRM1, PCBP4, PHF7, POC1A, PPM1M, PRKCD, RAD54L2, RASSF1, RASSF1-AS1, RBM15B, RBM5, RBM5-AS1, RBM6, RFT1, RNF123, RPL29, RRP9, SELENOK, SEMA3B, SEMA3B-AS1, SEMA3F, SEMA3F-AS1, SEMA3G, SFMBT1, SLC38A3, SNORD136, SNORD19, SNORD19B, SNORD19C, SNORD38C, SNORD69, SPCS1, STAB1, STIMATE, STIMATE-MUSTN1, TEX264, TKT, TLR9, TMEM115, TNNC1, TRAIP, TUSC2, TWF2, TWF2-DT, UBA7, UQCC5, WDR82, ZMYND10		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1555642.	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1 GRCh37: Chr3:51431865-55098476 GRCh38: Chr3:51394434-55064449	ABHD14A, ABHD14A-ACY1, ABHD14B, ACTR8, ACY1, ALAS1, BAP1, CACNA1D, CACNA2D3, CACNA2D3-AS1, CHDH, DCAF1, DCP1A, DNAH1, DUSP7, ESRG, GLT8D1, GLYCTK, GLYCTK-AS1, GNL3, GPR62, GRM2, IL17RB, IQCF1, IQCF2, IQCF3, IQCF5, IQCF5-AS1, IQCF6, ITIH1, ITIH3, ITIH4, ITIH4-AS1, LINC00696, LOC110121103, LOC110121270, LOC112935947, LOC112935948, LOC112935949, LOC112935950, LOC114004379, LOC114004380, LOC115995511, LOC121009672, LOC121725145, LOC121725146, LOC122889090, LOC122965306, LOC122965307, LOC122965308, LOC122965309, LOC122965310, LOC122965311, LOC126806678, LOC126806679, LOC126806680, LOC126806681, LOC126806682, LOC126806683, LOC126806684, LOC126806685, LOC126806686, LRTM1, MIR135A1, MIR8064, MIRLET7G, MUSTN1, NEK4, NISCH, NT5DC2, PARP3, PBRM1, PCBP4, PHF7, POC1A, PPM1M, PRKCD, RAD54L2, RBM15B, RFT1, RPL29, RRP9, SELENOK, SEMA3G, SFMBT1, SNORD136, SNORD19, SNORD19B, SNORD19C, SNORD38C, SNORD69, SPCS1, STAB1, STIMATE, STIMATE-MUSTN1, TEX264, TKT, TLR9, TNNC1, TWF2, TWF2-DT, UQCC5, WDR82		See cases	Likely pathogenic (Oct 22, 2013)	no assertion criteria provided
Select item 12902813.	Single allele GRCh37: Chr3:52485105 GRCh38: Chr3:52451089	TNNC1		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 3461284.	NM_003280.3(TNNC1):c.*127C>T GRCh37: Chr3:52485164 GRCh38: Chr3:52451148	TNNC1		not provided, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 12328895.	NM_003280.3(TNNC1):c.*123G>A GRCh37: Chr3:52485168 GRCh38: Chr3:52451152	TNNC1		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 3461296.	NM_003280.3(TNNC1):c.*83A>C GRCh37: Chr3:52485208 GRCh38: Chr3:52451192	TNNC1		not provided, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 12896717.	NM_003280.3(TNNC1):c.*77G>T GRCh37: Chr3:52485214 GRCh38: Chr3:52451198	TNNC1		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 3461308.	NM_003280.3(TNNC1):c.*75G>A GRCh37: Chr3:52485216 GRCh38: Chr3:52451200	TNNC1		Dilated cardiomyopathy 1Z, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Hypertrophic cardiomyopathy 13	Uncertain significance (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13100039.	NM_003280.3(TNNC1):c.*8C>T GRCh37: Chr3:52485283 GRCh38: Chr3:52451267	TNNC1		not provided	Uncertain significance (Nov 4, 2019)	criteria provided, single submitter
Select item 115889710.	NM_003280.3(TNNC1):c.483G>A (p.Glu161=) GRCh37: Chr3:52485294 GRCh38: Chr3:52451278	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 17948511.	NM_003280.3(TNNC1):c.480G>A (p.Val160=) GRCh37: Chr3:52485297 GRCh38: Chr3:52451281	TNNC1		Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, not specified	Likely benign (Jul 20, 2020)	criteria provided, multiple submitters, no conflicts
Select item 1244112.	NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp) GRCh37: Chr3:52485301 GRCh38: Chr3:52451285	TNNC1	G159D	not provided	Likely pathogenic (Jan 13, 2020)	criteria provided, single submitter
Select item 164863913.	NM_003280.3(TNNC1):c.474G>A (p.Lys158=) GRCh37: Chr3:52485303 GRCh38: Chr3:52451287	TNNC1		Cardiovascular phenotype, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Likely benign (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144271614.	NM_003280.3(TNNC1):c.473A>G (p.Lys158Arg) GRCh37: Chr3:52485304 GRCh38: Chr3:52451288	TNNC1	K158R	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Aug 21, 2021)	criteria provided, single submitter
Select item 47055915.	NM_003280.3(TNNC1):c.473A>C (p.Lys158Thr) GRCh37: Chr3:52485304 GRCh38: Chr3:52451288	TNNC1	K158T	Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 137052016.	NM_003280.3(TNNC1):c.470T>G (p.Met157Arg) GRCh37: Chr3:52485307 GRCh38: Chr3:52451291	TNNC1	M157R	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Jul 28, 2021)	criteria provided, single submitter
Select item 180315117.	NM_003280.3(TNNC1):c.469A>G (p.Met157Val) GRCh37: Chr3:52485308 GRCh38: Chr3:52451292	TNNC1	M157V	Dilated cardiomyopathy 1Z	Uncertain significance (Oct 18, 2021)	criteria provided, single submitter
Select item 18156918.	NM_003280.3(TNNC1):c.469A>C (p.Met157Leu) GRCh37: Chr3:52485308 GRCh38: Chr3:52451292	TNNC1	M157L	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiovascular phenotype, not provided	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18055019.	NM_003280.3(TNNC1):c.469A>T (p.Met157Leu) GRCh37: Chr3:52485308 GRCh38: Chr3:52451292	TNNC1	M157L	Primary dilated cardiomyopathy	Uncertain significance (Sep 29, 2014)	no assertion criteria provided
Select item 167743820.	NM_003280.3(TNNC1):c.456G>C (p.Glu152Asp) GRCh37: Chr3:52485321 GRCh38: Chr3:52451305	TNNC1	E152D	not provided, Cardiovascular phenotype	Uncertain significance (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23953721.	NM_003280.3(TNNC1):c.456G>A (p.Glu152=) GRCh37: Chr3:52485321 GRCh38: Chr3:52451305	TNNC1		not specified, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiomyopathy	Likely benign (Sep 11, 2018)	criteria provided, multiple submitters, no conflicts
Select item 115643322.	NM_003280.3(TNNC1):c.455-5C>T GRCh37: Chr3:52485327 GRCh38: Chr3:52451311	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Likely benign (Jun 12, 2020)	criteria provided, single submitter
Select item 94810923.	NM_003280.3(TNNC1):c.455-6C>G GRCh37: Chr3:52485328 GRCh38: Chr3:52451312	TNNC1		not provided, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Conflicting interpretations of pathogenicity (Sep 2, 2021)	criteria provided, conflicting interpretations
Select item 13768324.	NM_003280.3(TNNC1):c.455-14C>A GRCh37: Chr3:52485336 GRCh38: Chr3:52451320	TNNC1		not specified	Benign (Jul 5, 2011)	criteria provided, single submitter
Select item 158926425.	NM_003280.3(TNNC1):c.455-18C>T GRCh37: Chr3:52485340 GRCh38: Chr3:52451324	TNNC1		Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Likely benign (Nov 21, 2021)	criteria provided, single submitter
Select item 162497726.	NM_003280.3(TNNC1):c.455-19C>A GRCh37: Chr3:52485341 GRCh38: Chr3:52451325	TNNC1		Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 158132427.	NM_003280.3(TNNC1):c.454+17G>A GRCh37: Chr3:52485390 GRCh38: Chr3:52451374	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 250629228.	NM_003280.3(TNNC1):c.454+16G>A GRCh37: Chr3:52485391 GRCh38: Chr3:52451375	TNNC1		not specified	Uncertain significance (May 6, 2023)	criteria provided, single submitter
Select item 218877329.	NM_003280.3(TNNC1):c.454+15G>A GRCh37: Chr3:52485392 GRCh38: Chr3:52451376	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 69679430.	NM_003280.3(TNNC1):c.454+6dup GRCh37: Chr3:52485400-52485401 GRCh38: Chr3:52451384-52451385	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Likely benign (Dec 14, 2018)	criteria provided, single submitter
Select item 41584831.	NM_003280.3(TNNC1):c.454+7G>A GRCh37: Chr3:52485400 GRCh38: Chr3:52451384	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiomyopathy	Conflicting interpretations of pathogenicity (Aug 14, 2020)	criteria provided, conflicting interpretations
Select item 50867032.	NM_003280.3(TNNC1):c.454+6C>T GRCh37: Chr3:52485401 GRCh38: Chr3:52451385	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, not specified	Conflicting interpretations of pathogenicity (Jun 20, 2022)	criteria provided, conflicting interpretations
Select item 22932633.	NM_003280.3(TNNC1):c.454+6C>G GRCh37: Chr3:52485401 GRCh38: Chr3:52451385	TNNC1		not specified, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Mar 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149454634.	NM_003280.3(TNNC1):c.454+3A>G GRCh37: Chr3:52485404 GRCh38: Chr3:52451388	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 168714535.	NM_003280.3(TNNC1):c.454G>A (p.Glu152Lys) GRCh37: Chr3:52485407 GRCh38: Chr3:52451391	TNNC1	E152K	Dilated cardiomyopathy 1Z	Pathogenic (Apr 30, 2022)	no assertion criteria provided
Select item 40987536.	NM_003280.3(TNNC1):c.452A>T (p.Asp151Val) GRCh37: Chr3:52485409 GRCh38: Chr3:52451393	TNNC1	D151V	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 18156837.	NM_003280.3(TNNC1):c.446A>G (p.Asp149Gly) GRCh37: Chr3:52485415 GRCh38: Chr3:52451399	TNNC1	D149G	not provided	Uncertain significance (Jul 18, 2023)	criteria provided, single submitter
Select item 4468338.	NM_003280.3(TNNC1):c.445G>A (p.Asp149Asn) GRCh37: Chr3:52485416 GRCh38: Chr3:52451400	TNNC1	D149N	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, not specified, not provided	Uncertain significance (Apr 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174067039.	NM_003280.3(TNNC1):c.444C>A (p.Ile148=) GRCh37: Chr3:52485417 GRCh38: Chr3:52451401	TNNC1		Cardiovascular phenotype, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Likely benign (Jan 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70016740.	NM_003280.3(TNNC1):c.444C>T (p.Ile148=) GRCh37: Chr3:52485417 GRCh38: Chr3:52451401	TNNC1		Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Cardiovascular phenotype, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Conflicting interpretations of pathogenicity (Aug 20, 2022)	criteria provided, conflicting interpretations
Select item 4468241.	NM_003280.3(TNNC1):c.442A>G (p.Ile148Val) GRCh37: Chr3:52485419 GRCh38: Chr3:52451403	TNNC1	I148V	Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, not specified, Primary dilated cardiomyopathy	Uncertain significance (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94981842.	NM_003280.3(TNNC1):c.440G>A (p.Arg147His) GRCh37: Chr3:52485421 GRCh38: Chr3:52451405	TNNC1	R147H	Cardiovascular phenotype, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 128460543.	NM_003280.3(TNNC1):c.439C>T (p.Arg147Cys) GRCh37: Chr3:52485422 GRCh38: Chr3:52451406	TNNC1	R147C	Cardiomyopathy	Uncertain significance (May 9, 2019)	criteria provided, single submitter
Select item 171414744.	NM_003280.3(TNNC1):c.436G>C (p.Gly146Arg) GRCh37: Chr3:52485425 GRCh38: Chr3:52451409	TNNC1	G146R	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 171343345.	NM_003280.3(TNNC1):c.436G>T (p.Gly146Cys) GRCh37: Chr3:52485425 GRCh38: Chr3:52451409	TNNC1	G146C	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 150942846.	NM_003280.3(TNNC1):c.436G>A (p.Gly146Ser) GRCh37: Chr3:52485425 GRCh38: Chr3:52451409	TNNC1	G146S	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiovascular phenotype	Uncertain significance (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22801647.	NM_003280.3(TNNC1):c.435C>T (p.Asp145=) GRCh37: Chr3:52485426 GRCh38: Chr3:52451410	TNNC1		Cardiovascular phenotype, not specified, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, not provided	Likely benign (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1244548.	NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) GRCh37: Chr3:52485426 GRCh38: Chr3:52451410	TNNC1	D145E	Cardiovascular phenotype, not provided, not specified, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiomyopathy	Uncertain significance (Jun 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132925649.	NM_003280.3(TNNC1):c.433G>C (p.Asp145His) GRCh37: Chr3:52485428 GRCh38: Chr3:52451412	TNNC1	D145H	Cardiomyopathy	Uncertain significance (Jan 11, 2021)	criteria provided, single submitter
Select item 40987450.	NM_003280.3(TNNC1):c.433G>A (p.Asp145Asn) GRCh37: Chr3:52485428 GRCh38: Chr3:52451412	TNNC1	D145N	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, not provided	Uncertain significance (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129027851.	NM_003280.3(TNNC1):c.432C>T (p.Asn144=) GRCh37: Chr3:52485429 GRCh38: Chr3:52451413	TNNC1		Cardiovascular phenotype, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, not provided	Likely benign (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50418052.	NM_003280.3(TNNC1):c.427AAC[1] (p.Asn144del) GRCh37: Chr3:52485429-52485431 GRCh38: Chr3:52451413-52451415	TNNC1	N144del	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, not specified	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 23506153.	NM_003280.3(TNNC1):c.431A>G (p.Asn144Ser) GRCh37: Chr3:52485430 GRCh38: Chr3:52451414	TNNC1	N144S	not specified	Uncertain significance (Feb 7, 2013)	no assertion criteria provided
Select item 18156754.	NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp) GRCh37: Chr3:52485431 GRCh38: Chr3:52451415	TNNC1	N144D	Hypertrophic cardiomyopathy 13, Cardiovascular phenotype, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Jun 20, 2023)	criteria provided, conflicting interpretations
Select item 84785655.	NM_003280.3(TNNC1):c.426G>C (p.Lys142Asn) GRCh37: Chr3:52485435 GRCh38: Chr3:52451419	TNNC1	K142N	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 173899456.	NM_003280.3(TNNC1):c.424_425del (p.Lys142fs) GRCh37: Chr3:52485436-52485437 GRCh38: Chr3:52451420-52451421	TNNC1	K142fs	Cardiovascular phenotype	Uncertain significance (May 5, 2021)	criteria provided, single submitter
Select item 64313957.	NM_003280.3(TNNC1):c.419G>A (p.Gly140Glu) GRCh37: Chr3:52485442 GRCh38: Chr3:52451426	TNNC1	G140E	Cardiovascular phenotype, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Uncertain significance (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96091658.	NM_003280.3(TNNC1):c.418G>A (p.Gly140Arg) GRCh37: Chr3:52485443 GRCh38: Chr3:52451427	TNNC1	G140R	Cardiovascular phenotype, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Uncertain significance (Apr 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62671959.	NM_003280.3(TNNC1):c.417C>T (p.Asp139=) GRCh37: Chr3:52485444 GRCh38: Chr3:52451428	TNNC1		Cardiovascular phenotype, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiomyopathy	Likely benign (Jan 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 256548160.	NM_003280.3(TNNC1):c.416A>G (p.Asp139Gly) GRCh37: Chr3:52485445 GRCh38: Chr3:52451429	TNNC1	D139G	Cardiovascular phenotype	Uncertain significance (Apr 28, 2023)	criteria provided, single submitter
Select item 171990061.	NM_003280.3(TNNC1):c.416A>C (p.Asp139Ala) GRCh37: Chr3:52485445 GRCh38: Chr3:52451429	TNNC1	D139A	Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 102477562.	NM_003280.3(TNNC1):c.404A>C (p.Glu135Ala) GRCh37: Chr3:52485457 GRCh38: Chr3:52451441	TNNC1	E135A	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 173718763.	NM_003280.3(TNNC1):c.402G>A (p.Glu134=) GRCh37: Chr3:52485459 GRCh38: Chr3:52451443	TNNC1		Cardiovascular phenotype	Likely benign (Jan 13, 2021)	criteria provided, single submitter
Select item 4468164.	NM_003280.3(TNNC1):c.402G>T (p.Glu134Asp) GRCh37: Chr3:52485459 GRCh38: Chr3:52451443	TNNC1	E134D	Cardiovascular phenotype, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, not specified, not provided	Uncertain significance (Jan 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 47055865.	NM_003280.3(TNNC1):c.400G>A (p.Glu134Lys) GRCh37: Chr3:52485461 GRCh38: Chr3:52451445	TNNC1	E134K	Cardiovascular phenotype, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, not provided	Uncertain significance (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 194538766.	NM_003280.3(TNNC1):c.399C>T (p.Ile133=) GRCh37: Chr3:52485462 GRCh38: Chr3:52451446	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 64012367.	NM_003280.3(TNNC1):c.397A>G (p.Ile133Val) GRCh37: Chr3:52485464 GRCh38: Chr3:52451448	TNNC1	I133V	Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 241506468.	NM_003280.3(TNNC1):c.396C>T (p.Asp132=) GRCh37: Chr3:52485465 GRCh38: Chr3:52451449	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 56929369.	NM_003280.3(TNNC1):c.391GAC[1] (p.Asp132del) GRCh37: Chr3:52485465-52485467 GRCh38: Chr3:52451449-52451451	TNNC1	D132del	Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 4468070.	NM_003280.3(TNNC1):c.394G>A (p.Asp132Asn) GRCh37: Chr3:52485467 GRCh38: Chr3:52451451	TNNC1	D132N	not specified	Uncertain significance (Jul 6, 2012)	criteria provided, single submitter
Select item 47055771.	NM_003280.3(TNNC1):c.393C>A (p.Asp131Glu) GRCh37: Chr3:52485468 GRCh38: Chr3:52451452	TNNC1	D131E	Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 38314672.	NM_003280.3(TNNC1):c.393C>T (p.Asp131=) GRCh37: Chr3:52485468 GRCh38: Chr3:52451452	TNNC1		not provided, Cardiovascular phenotype, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiomyopathy	Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47055673.	NM_003280.3(TNNC1):c.387G>A (p.Thr129=) GRCh37: Chr3:52485474 GRCh38: Chr3:52451458	TNNC1		Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Likely benign (Feb 21, 2021)	criteria provided, single submitter
Select item 4467974.	NM_003280.3(TNNC1):c.387G>C (p.Thr129=) GRCh37: Chr3:52485474 GRCh38: Chr3:52451458	TNNC1		Cardiovascular phenotype, not specified, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, not provided, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Conflicting interpretations of pathogenicity (Mar 23, 2022)	criteria provided, conflicting interpretations
Select item 51891675.	NM_003280.3(TNNC1):c.386C>T (p.Thr129Met) GRCh37: Chr3:52485475 GRCh38: Chr3:52451459	TNNC1	T129M	Cardiovascular phenotype, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, not provided	Uncertain significance (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79600576.	NM_003280.3(TNNC1):c.384C>T (p.Ile128=) GRCh37: Chr3:52485477 GRCh38: Chr3:52451461	TNNC1		Cardiomyopathy, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Likely benign (Mar 26, 2020)	criteria provided, multiple submitters, no conflicts
Select item 53798477.	NM_003280.3(TNNC1):c.383T>C (p.Ile128Thr) GRCh37: Chr3:52485478 GRCh38: Chr3:52451462	TNNC1	I128T	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 18156678.	NM_003280.3(TNNC1):c.376G>A (p.Glu126Lys) GRCh37: Chr3:52485485 GRCh38: Chr3:52451469	TNNC1	E126K	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, not provided, Cardiomyopathy	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173464179.	NM_003280.3(TNNC1):c.375C>T (p.Gly125=) GRCh37: Chr3:52485486 GRCh38: Chr3:52451470	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiovascular phenotype	Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154952080.	NM_003280.3(TNNC1):c.375C>A (p.Gly125=) GRCh37: Chr3:52485486 GRCh38: Chr3:52451470	TNNC1		Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Likely benign (May 13, 2021)	criteria provided, single submitter
Select item 79366881.	NM_003280.3(TNNC1):c.372A>G (p.Thr124=) GRCh37: Chr3:52485489 GRCh38: Chr3:52451473	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Likely benign (Jan 13, 2020)	criteria provided, single submitter
Select item 171925382.	NM_003280.3(TNNC1):c.370A>C (p.Thr124Pro) GRCh37: Chr3:52485491 GRCh38: Chr3:52451475	TNNC1	T124P	Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Uncertain significance (Sep 11, 2022)	criteria provided, single submitter
Select item 147808183.	NM_003280.3(TNNC1):c.362_364delinsCTT (p.Leu121_Gln122delinsProTer) GRCh37: Chr3:52485497-52485499 GRCh38: Chr3:52451481-52451483	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Jan 1, 2021)	criteria provided, single submitter
Select item 140432484.	NM_003280.3(TNNC1):c.363dup (p.Gln122fs) GRCh37: Chr3:52485497-52485498 GRCh38: Chr3:52451481-52451482	TNNC1	Q122fs	Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Uncertain significance (Jun 26, 2021)	criteria provided, single submitter
Select item 173349585.	NM_003280.3(TNNC1):c.363G>T (p.Leu121=) GRCh37: Chr3:52485498 GRCh38: Chr3:52451482	TNNC1		Cardiovascular phenotype	Likely benign (Jan 10, 2020)	criteria provided, single submitter
Select item 86021986.	NM_003280.3(TNNC1):c.356T>C (p.Ile119Thr) GRCh37: Chr3:52485505 GRCh38: Chr3:52451489	TNNC1	I119T	Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Uncertain significance (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58093587.	NM_003280.3(TNNC1):c.355A>G (p.Ile119Val) GRCh37: Chr3:52485506 GRCh38: Chr3:52451490	TNNC1	I119V	Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 142303988.	NM_003280.3(TNNC1):c.354G>T (p.Lys118Asn) GRCh37: Chr3:52485507 GRCh38: Chr3:52451491	TNNC1	K118N	Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 74419789.	NM_003280.3(TNNC1):c.354G>A (p.Lys118=) GRCh37: Chr3:52485507 GRCh38: Chr3:52451491	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Likely benign (Jan 29, 2018)	criteria provided, single submitter
Select item 191523290.	NM_003280.3(TNNC1):c.351G>A (p.Leu117=) GRCh37: Chr3:52485510 GRCh38: Chr3:52451494	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 40987391.	NM_003280.3(TNNC1):c.348G>T (p.Glu116Asp) GRCh37: Chr3:52485513 GRCh38: Chr3:52451497	TNNC1	E116D	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 106318192.	NM_003280.3(TNNC1):c.341T>G (p.Leu114Arg) GRCh37: Chr3:52485520 GRCh38: Chr3:52451504	TNNC1	L114R	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Cardiovascular phenotype	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205026193.	NM_003280.3(TNNC1):c.339C>A (p.Asp113Glu) GRCh37: Chr3:52485522 GRCh38: Chr3:52451506	TNNC1	D113E	Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 200576894.	NM_003280.3(TNNC1):c.322_338del (p.Ala108fs) GRCh37: Chr3:52485523-52485539 GRCh38: Chr3:52451507-52451523	TNNC1	A108fs	Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 195022295.	NM_003280.3(TNNC1):c.337del (p.Asp113fs) GRCh37: Chr3:52485524 GRCh38: Chr3:52451508	TNNC1	D113fs	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Feb 5, 2020)	criteria provided, single submitter
Select item 56752396.	NM_003280.3(TNNC1):c.337G>A (p.Asp113Asn) GRCh37: Chr3:52485524 GRCh38: Chr3:52451508	TNNC1	D113N	not provided, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104666597.	NM_003280.3(TNNC1):c.336C>G (p.Ile112Met) GRCh37: Chr3:52485525 GRCh38: Chr3:52451509	TNNC1	I112M	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 22079798.	NM_003280.3(TNNC1):c.336C>T (p.Ile112=) GRCh37: Chr3:52485525 GRCh38: Chr3:52451509	TNNC1		Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 116324999.	NM_003280.3(TNNC1):c.334A>G (p.Ile112Val) GRCh37: Chr3:52485527 GRCh38: Chr3:52451511	TNNC1	I112V	Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, not provided	Uncertain significance (Aug 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 579420100.	NM_003280.3(TNNC1):c.328G>T (p.Gly110Cys) GRCh37: Chr3:52485533 GRCh38: Chr3:52451517	TNNC1	G110C	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter

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