4634[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1441681.	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 GRCh37: Chr3:45921375-50787353 GRCh38: Chr3:45879883-50749922	ALS2CL, AMIGO3, AMT, APEH, ARIH2, ARIH2OS, ATRIP, ATRIP-TREX1, BSN, BSN-DT, C3orf18, C3orf62, C3orf84, CACNA2D2, CAMKV, CAMP, CCDC12, CCDC51, CCDC71, CCR1, CCR2, CCR3, CCR5, CCR5AS, CCR9, CCRL2, CDC25A, CDHR4, CELSR3, CISH, COL7A1, CRIPTO, CSPG5, CXCR6, CYB561D2, DAG1, DALRD3, DHX30, DOCK3, ELP6, FAM240A, FBXW12, FYCO1, GMPPB, GNAI2, GNAT1, GPX1, HEMK1, HYAL1, HYAL2, HYAL3, IFRD2, IHO1, IMPDH2, INKA1, IP6K1, IP6K2, KIF9, KIF9-AS1, KLHDC8B, KLHL18, LAMB2, LINC02009, LINC02019, LINC02585, LOC101928965, LOC110121200, LOC111591507, LOC112935943, LOC112935944, LOC112935945, LOC112935946, LOC115995510, LOC119086083, LOC121009664, LOC121009665, LOC121009666, LOC121009667, LOC121009668, LOC121009669, LOC121009670, LOC121009671, LOC121725144, LOC122889078, LOC122889079, LOC122889080, LOC122889081, LOC122889082, LOC122889083, LOC122889084, LOC122889085, LOC122889086, LOC122889087, LOC122889088, LOC126806671, LOC126806672, LOC126806673, LOC126806674, LOC126806675, LOC126806676, LOC127898564, LRRC2, LRRC2-AS1, LSMEM2, LTF, LZTFL1, MAP4, MAPKAPK3, MIR1226, MIR191, MIR2115, MIR425, MIR4271, MIR4443, MIR4787, MIR4793, MIR5193, MIR566, MIR5787, MIR6823, MIR6824, MIR6872, MIR6890, MIR711, MON1A, MST1, MST1R, MYL3, NAA80, NBEAL2, NCKIPSD, NDUFAF3, NICN1, NME6, NPRL2, P4HTM, PFKFB4, PLXNB1, PRKAR2A, PRKAR2A-AS1, PRSS50, PTH1R, PTPN23, QARS1, QRICH1, RASSF1, RASSF1-AS1, RBM5, RBM5-AS1, RBM6, RHOA, RNF123, RTP3, SCAP, SEMA3B, SEMA3B-AS1, SEMA3F, SEMA3F-AS1, SETD2, SHISA5, SLC25A20, SLC26A6, SLC38A3, SMARCC1, SNORA94, SNORD13J, SNORD146, SPINK8, TCTA, TMA7, TMEM115, TMEM89, TMIE, TRAIP, TREX1, TUSC2, UBA7, UCN2, UQCRC1, USP19, USP4, WDR6, XCR1, ZMYND10, ZNF589		See cases	Pathogenic (Sep 23, 2013)	no assertion criteria provided
Select item 1548002.	GRCh38/hg38 3p21.31(chr3:46726614-46968315)x1 GRCh37: Chr3:46768104-47009805 GRCh38: Chr3:46726614-46968315	CCDC12, LOC112935943, LOC121009666, LOC122889081, MYL3, PTH1R		See cases	Pathogenic (Aug 13, 2012)	no assertion criteria provided
Select item 3455673.	NM_000258.3(MYL3):c.*205C>A GRCh37: Chr3:46899400 GRCh38: Chr3:46857910	MYL3		Hypertrophic cardiomyopathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 9004724.	NM_000258.3(MYL3):c.*140C>T GRCh37: Chr3:46899465 GRCh38: Chr3:46857975	MYL3		Hypertrophic cardiomyopathy 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9004735.	NM_000258.3(MYL3):c.*112C>A GRCh37: Chr3:46899493 GRCh38: Chr3:46858003	MYL3		Hypertrophic cardiomyopathy 8	Uncertain significance (Aug 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3455686.	NM_000258.3(MYL3):c.*89G>A GRCh37: Chr3:46899516 GRCh38: Chr3:46858026	MYL3		Hypertrophic cardiomyopathy 8, not provided	Benign (Jun 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 1329757.	NM_000258.3(MYL3):c.*27G>A GRCh37: Chr3:46899578 GRCh38: Chr3:46858088	MYL3		not specified	Likely benign (May 24, 2016)	criteria provided, single submitter
Select item 12587938.	NM_000258.3(MYL3):c.*13+40G>T GRCh37: Chr3:46899681 GRCh38: Chr3:46858191	MYL3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 3455699.	NM_000258.3(MYL3):c.*13+5G>C GRCh37: Chr3:46899716 GRCh38: Chr3:46858226	MYL3		not specified, Hypertrophic cardiomyopathy 8, Cardiomyopathy	Likely benign (Aug 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 180968410.	NM_000258.3(MYL3):c.*13G>A GRCh37: Chr3:46899721 GRCh38: Chr3:46858231	MYL3		Hypertrophic cardiomyopathy 8	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 17808611.	NM_000258.3(MYL3):c.*9C>T GRCh37: Chr3:46899725 GRCh38: Chr3:46858235	MYL3		not specified	Benign (May 27, 2015)	criteria provided, single submitter
Select item 92581312.	NM_000258.3(MYL3):c.*6G>A GRCh37: Chr3:46899728 GRCh38: Chr3:46858238	MYL3		Cardiomyopathy	Uncertain significance (Jun 1, 2019)	criteria provided, single submitter
Select item 17988813.	NM_000258.3(MYL3):c.*5C>T GRCh37: Chr3:46899729 GRCh38: Chr3:46858239	MYL3		not specified, Cardiomyopathy, Hypertrophic cardiomyopathy 8	Conflicting interpretations of pathogenicity (Nov 20, 2019)	criteria provided, conflicting interpretations
Select item 92229814.	NM_000258.3(MYL3):c.*3C>T GRCh37: Chr3:46899731 GRCh38: Chr3:46858241	MYL3		Cardiomyopathy	Benign (Jan 28, 2020)	criteria provided, single submitter
Select item 92349015.	NM_000258.3(MYL3):c.582C>T (p.Ser194=) GRCh37: Chr3:46899740 GRCh38: Chr3:46858250	MYL3		Cardiomyopathy	Likely benign (Mar 9, 2020)	criteria provided, single submitter
Select item 198337016.	NM_000258.3(MYL3):c.579del (p.Met193fs) GRCh37: Chr3:46899743 GRCh38: Chr3:46858253	MYL3	M193fs	Hypertrophic cardiomyopathy	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 95292717.	NM_000258.3(MYL3):c.579G>A (p.Met193Ile) GRCh37: Chr3:46899743 GRCh38: Chr3:46858253	MYL3	M193I	Hypertrophic cardiomyopathy	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 92511718.	NM_000258.3(MYL3):c.577A>G (p.Met193Val) GRCh37: Chr3:46899745 GRCh38: Chr3:46858255	MYL3	M193V	Cardiomyopathy	Uncertain significance (Feb 11, 2019)	criteria provided, single submitter
Select item 100407819.	NM_000258.3(MYL3):c.575dup (p.Met193fs) GRCh37: Chr3:46899746-46899747 GRCh38: Chr3:46858256-46858257	MYL3	M193fs	Cardiovascular phenotype, Hypertrophic cardiomyopathy	Uncertain significance (Feb 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 210570620.	NM_000258.3(MYL3):c.575T>A (p.Ile192Asn) GRCh37: Chr3:46899747 GRCh38: Chr3:46858257	MYL3	I129N, I134N, I192N	Hypertrophic cardiomyopathy	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 22273821.	NM_000258.3(MYL3):c.571C>G (p.His191Asp) GRCh37: Chr3:46899751 GRCh38: Chr3:46858261	MYL3	H191D	Primary familial hypertrophic cardiomyopathy	Uncertain significance (Sep 1, 2015)	criteria provided, single submitter
Select item 131122822.	NM_000258.3(MYL3):c.568A>G (p.Lys190Glu) GRCh37: Chr3:46899754 GRCh38: Chr3:46858264	MYL3	K190E	Hypertrophic cardiomyopathy, not provided	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91939023.	NM_000258.3(MYL3):c.567G>A (p.Val189=) GRCh37: Chr3:46899755 GRCh38: Chr3:46858265	MYL3		Cardiomyopathy	Likely benign (Dec 2, 2019)	criteria provided, single submitter
Select item 140837824.	NM_000258.3(MYL3):c.560-1G>C GRCh37: Chr3:46899763 GRCh38: Chr3:46858273	MYL3		Hypertrophic cardiomyopathy	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 92075225.	NM_000258.3(MYL3):c.560-1G>A GRCh37: Chr3:46899763 GRCh38: Chr3:46858273	MYL3		Cardiomyopathy	Uncertain significance (May 15, 2019)	criteria provided, single submitter
Select item 45440026.	NM_000258.3(MYL3):c.560-2del GRCh37: Chr3:46899764 GRCh38: Chr3:46858274	MYL3		Hypertrophic cardiomyopathy	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 22273927.	NM_000258.3(MYL3):c.560-3C>T GRCh37: Chr3:46899765 GRCh38: Chr3:46858275	MYL3		Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jan 26, 2015)	criteria provided, single submitter
Select item 189897228.	NM_000258.3(MYL3):c.560-7T>C GRCh37: Chr3:46899769 GRCh38: Chr3:46858279	MYL3		Hypertrophic cardiomyopathy	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 113111929.	NM_000258.3(MYL3):c.560-10T>G GRCh37: Chr3:46899772 GRCh38: Chr3:46858282	MYL3		Hypertrophic cardiomyopathy	Likely benign (Jul 24, 2019)	criteria provided, single submitter
Select item 62964030.	NM_000258.3(MYL3):c.560-15_560-14del GRCh37: Chr3:46899776-46899777 GRCh38: Chr3:46858286-46858287	MYL3		Cardiomyopathy	Likely benign (Oct 16, 2018)	criteria provided, single submitter
Select item 197495731.	NM_000258.3(MYL3):c.560-15T>A GRCh37: Chr3:46899777 GRCh38: Chr3:46858287	MYL3		Hypertrophic cardiomyopathy	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 92763832.	NM_000258.3(MYL3):c.560-15T>G GRCh37: Chr3:46899777 GRCh38: Chr3:46858287	MYL3		Hypertrophic cardiomyopathy, Cardiomyopathy	Conflicting interpretations of pathogenicity (Jul 17, 2022)	criteria provided, conflicting interpretations
Select item 124634033.	NM_000258.3(MYL3):c.560-30T>C GRCh37: Chr3:46899792 GRCh38: Chr3:46858302	MYL3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 241450834.	NM_000258.3(MYL3):c.559+16_559+31del GRCh37: Chr3:46899843-46899858 GRCh38: Chr3:46858353-46858368	MYL3		Hypertrophic cardiomyopathy	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 13840135.	NM_000258.3(MYL3):c.559+19G>A GRCh37: Chr3:46899855 GRCh38: Chr3:46858365	MYL3		not specified, Hypertrophic cardiomyopathy	Benign (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3178136.	NM_000258.3(MYL3):c.559+6C>T GRCh37: Chr3:46899868 GRCh38: Chr3:46858378	MYL3		not specified, Cardiomyopathy, Hypertrophic cardiomyopathy	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 201766737.	NM_000258.3(MYL3):c.559+2T>C GRCh37: Chr3:46899872 GRCh38: Chr3:46858382	MYL3		Hypertrophic cardiomyopathy	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 117213138.	NM_000258.3(MYL3):c.557A>C (p.Glu186Ala) GRCh37: Chr3:46899876 GRCh38: Chr3:46858386	MYL3	E186A	Hypertrophic cardiomyopathy 8, not provided, Cardiomyopathy	Uncertain significance (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 117194639.	NM_000258.3(MYL3):c.555T>C (p.Tyr185=) GRCh37: Chr3:46899878 GRCh38: Chr3:46858388	MYL3		Cardiomyopathy	Likely benign (Feb 18, 2021)	criteria provided, single submitter
Select item 135970040.	NM_000258.3(MYL3):c.553T>A (p.Tyr185Asn) GRCh37: Chr3:46899880 GRCh38: Chr3:46858390	MYL3	Y185N	Hypertrophic cardiomyopathy	Uncertain significance (Aug 9, 2021)	criteria provided, single submitter
Select item 92440641.	NM_000258.3(MYL3):c.552C>T (p.Asn184=) GRCh37: Chr3:46899881 GRCh38: Chr3:46858391	MYL3		Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy	Likely benign (Nov 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 50898442.	NM_000258.3(MYL3):c.549C>T (p.Ile183=) GRCh37: Chr3:46899884 GRCh38: Chr3:46858394	MYL3		Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype, not specified	Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92032743.	NM_000258.3(MYL3):c.546C>T (p.Cys182=) GRCh37: Chr3:46899887 GRCh38: Chr3:46858397	MYL3		Cardiomyopathy	Likely benign (Nov 12, 2019)	criteria provided, single submitter
Select item 65001644.	NM_000258.3(MYL3):c.539A>G (p.Asn180Ser) GRCh37: Chr3:46899894 GRCh38: Chr3:46858404	MYL3	N180S	Hypertrophic cardiomyopathy, Cardiomyopathy	Uncertain significance (Sep 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136892845.	NM_000258.3(MYL3):c.536C>T (p.Ser179Phe) GRCh37: Chr3:46899897 GRCh38: Chr3:46858407	MYL3	S179F	Hypertrophic cardiomyopathy	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 103697546.	NM_000258.3(MYL3):c.536C>A (p.Ser179Tyr) GRCh37: Chr3:46899897 GRCh38: Chr3:46858407	MYL3	S179Y	Hypertrophic cardiomyopathy	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 4312847.	NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) GRCh37: Chr3:46899901 GRCh38: Chr3:46858411	MYL3	D178N	Cardiovascular phenotype, not provided, not specified, Cardiomyopathy, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Dec 27, 2022)	criteria provided, conflicting interpretations
Select item 3664848.	NM_000258.3(MYL3):c.530A>G (p.Glu177Gly) GRCh37: Chr3:46899903 GRCh38: Chr3:46858413	MYL3	E177G	Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62944249.	NM_000258.3(MYL3):c.521C>T (p.Ala174Val) GRCh37: Chr3:46899912 GRCh38: Chr3:46858422	MYL3	A174V	Cardiomyopathy	Uncertain significance (Oct 4, 2018)	criteria provided, single submitter
Select item 4312750.	NM_000258.3(MYL3):c.520G>C (p.Ala174Pro) GRCh37: Chr3:46899913 GRCh38: Chr3:46858423	MYL3	A174P	not specified, Cardiomyopathy	Uncertain significance (Nov 9, 2017)	criteria provided, multiple submitters, no conflicts
Select item 58040051.	NM_000258.3(MYL3):c.518T>C (p.Met173Thr) GRCh37: Chr3:46899915 GRCh38: Chr3:46858425	MYL3	M173T	not provided, Hypertrophic cardiomyopathy, Cardiovascular phenotype	Uncertain significance (Nov 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18144952.	NM_000258.3(MYL3):c.518T>A (p.Met173Lys) GRCh37: Chr3:46899915 GRCh38: Chr3:46858425	MYL3	M173K	Hypertrophic cardiomyopathy, not provided	Conflicting interpretations of pathogenicity (Mar 23, 2022)	criteria provided, conflicting interpretations
Select item 3177953.	NM_000258.3(MYL3):c.517A>G (p.Met173Val) GRCh37: Chr3:46899916 GRCh38: Chr3:46858426	MYL3	M173V	Cardiomyopathy, not specified, not provided, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4312654.	NM_000258.3(MYL3):c.516G>A (p.Leu172=) GRCh37: Chr3:46899917 GRCh38: Chr3:46858427	MYL3		Cardiovascular phenotype, not specified, Cardiomyopathy, Hypertrophic cardiomyopathy	Likely benign (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117224755.	NM_000258.3(MYL3):c.514T>C (p.Leu172=) GRCh37: Chr3:46899919 GRCh38: Chr3:46858429	MYL3		Cardiomyopathy, Hypertrophic cardiomyopathy	Likely benign (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97042556.	NM_000258.3(MYL3):c.508G>C (p.Glu170Gln) GRCh37: Chr3:46899925 GRCh38: Chr3:46858435	MYL3	E170Q	Hypertrophic cardiomyopathy, Cardiovascular phenotype	Uncertain significance (Sep 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22046657.	NM_000258.3(MYL3):c.508G>A (p.Glu170Lys) GRCh37: Chr3:46899925 GRCh38: Chr3:46858435	MYL3	E170K	Hypertrophic cardiomyopathy	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 114468358.	NM_000258.3(MYL3):c.507G>A (p.Val169=) GRCh37: Chr3:46899926 GRCh38: Chr3:46858436	MYL3		Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Likely benign (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 211071659.	NM_000258.3(MYL3):c.505G>A (p.Val169Met) GRCh37: Chr3:46899928 GRCh38: Chr3:46858438	MYL3	V106M, V169M, V111M	Hypertrophic cardiomyopathy	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 208716860.	NM_000258.3(MYL3):c.505G>C (p.Val169Leu) GRCh37: Chr3:46899928 GRCh38: Chr3:46858438	MYL3	V111L, V106L, V169L	Hypertrophic cardiomyopathy	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 75472661.	NM_000258.3(MYL3):c.504A>G (p.Glu168=) GRCh37: Chr3:46899929 GRCh38: Chr3:46858439	MYL3		Hypertrophic cardiomyopathy	Likely benign (May 16, 2018)	criteria provided, single submitter
Select item 210702762.	NM_000258.3(MYL3):c.503A>C (p.Glu168Ala) GRCh37: Chr3:46899930 GRCh38: Chr3:46858440	MYL3	E110A, E168A, E105A	Hypertrophic cardiomyopathy	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 91879263.	NM_000258.3(MYL3):c.502G>A (p.Glu168Lys) GRCh37: Chr3:46899931 GRCh38: Chr3:46858441	MYL3	E168K	Cardiomyopathy	Uncertain significance (Dec 7, 2018)	criteria provided, single submitter
Select item 38871764.	NM_000258.3(MYL3):c.501C>T (p.Asp167=) GRCh37: Chr3:46899932 GRCh38: Chr3:46858442	MYL3		not specified, Cardiomyopathy, Hypertrophic cardiomyopathy	Likely benign (May 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91985065.	NM_000258.3(MYL3):c.499G>A (p.Asp167Asn) GRCh37: Chr3:46899934 GRCh38: Chr3:46858444	MYL3	D167N	Cardiovascular phenotype, Cardiomyopathy	Uncertain significance (Mar 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102255166.	NM_000258.3(MYL3):c.494C>G (p.Thr165Arg) GRCh37: Chr3:46899939 GRCh38: Chr3:46858449	MYL3	T165R	Hypertrophic cardiomyopathy	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 92207467.	NM_000258.3(MYL3):c.488G>A (p.Arg163Lys) GRCh37: Chr3:46899945 GRCh38: Chr3:46858455	MYL3	R163K	Cardiomyopathy	Uncertain significance (Mar 7, 2019)	criteria provided, single submitter
Select item 136782168.	NM_000258.3(MYL3):c.487A>G (p.Arg163Gly) GRCh37: Chr3:46899946 GRCh38: Chr3:46858456	MYL3	R163G	Cardiovascular phenotype, Hypertrophic cardiomyopathy	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 214553969.	NM_000258.3(MYL3):c.486G>C (p.Glu162Asp) GRCh37: Chr3:46899947 GRCh38: Chr3:46858457	MYL3	E104D, E162D	Hypertrophic cardiomyopathy	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 92216470.	NM_000258.3(MYL3):c.484G>A (p.Glu162Lys) GRCh37: Chr3:46899949 GRCh38: Chr3:46858459	MYL3	E162K	Cardiomyopathy	Uncertain significance (Oct 25, 2018)	criteria provided, single submitter
Select item 92459271.	NM_000258.3(MYL3):c.483T>G (p.Gly161=) GRCh37: Chr3:46899950 GRCh38: Chr3:46858460	MYL3		Hypertrophic cardiomyopathy, Cardiomyopathy	Likely benign (Aug 18, 2020)	criteria provided, multiple submitters, no conflicts
Select item 37324172.	NM_000258.3(MYL3):c.482G>A (p.Gly161Asp) GRCh37: Chr3:46899951 GRCh38: Chr3:46858461	MYL3	G161D	not specified	Uncertain significance (Nov 11, 2016)	criteria provided, single submitter
Select item 16448673.	NM_000258.3(MYL3):c.482-1G>A GRCh37: Chr3:46899952 GRCh38: Chr3:46858462	MYL3		not specified	Uncertain significance (Oct 15, 2013)	criteria provided, single submitter
Select item 13298674.	NM_000258.3(MYL3):c.482-2A>G GRCh37: Chr3:46899953 GRCh38: Chr3:46858463	MYL3		not provided	not provided	no assertion provided
Select item 18044375.	NM_000258.3(MYL3):c.482-6T>C GRCh37: Chr3:46899957 GRCh38: Chr3:46858467	MYL3		Primary familial hypertrophic cardiomyopathy	Uncertain significance (Nov 25, 2014)	no assertion criteria provided
Select item 62934076.	NM_000258.3(MYL3):c.482-9T>A GRCh37: Chr3:46899960 GRCh38: Chr3:46858470	MYL3		Cardiomyopathy	Uncertain significance (Oct 2, 2018)	criteria provided, single submitter
Select item 19117477.	NM_000258.3(MYL3):c.482-10C>T GRCh37: Chr3:46899961 GRCh38: Chr3:46858471	MYL3		not provided	Likely pathogenic	no assertion criteria provided
Select item 4312578.	NM_000258.3(MYL3):c.482-14C>A GRCh37: Chr3:46899965 GRCh38: Chr3:46858475	MYL3		not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13840079.	NM_000258.3(MYL3):c.482-17C>T GRCh37: Chr3:46899968 GRCh38: Chr3:46858478	MYL3		not specified, Hypertrophic cardiomyopathy	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117508080.	NM_000258.3(MYL3):c.482-18G>A GRCh37: Chr3:46899969 GRCh38: Chr3:46858479	MYL3		not provided	Likely benign	no assertion criteria provided
Select item 162521181.	NM_000258.3(MYL3):c.482-20C>T GRCh37: Chr3:46899971 GRCh38: Chr3:46858481	MYL3		Hypertrophic cardiomyopathy	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 117993482.	NM_000258.3(MYL3):c.482-100C>T GRCh37: Chr3:46900051 GRCh38: Chr3:46858561	MYL3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 163333583.	NM_000258.3(MYL3):c.481+15C>T GRCh37: Chr3:46900950 GRCh38: Chr3:46859460	MYL3		Hypertrophic cardiomyopathy	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 79525184.	NM_000258.3(MYL3):c.481+10G>C GRCh37: Chr3:46900955 GRCh38: Chr3:46859465	MYL3		Hypertrophic cardiomyopathy	Likely benign (Nov 14, 2018)	criteria provided, single submitter
Select item 57144385.	NM_000258.3(MYL3):c.481+5G>A GRCh37: Chr3:46900960 GRCh38: Chr3:46859470	MYL3		Cardiovascular phenotype, Hypertrophic cardiomyopathy	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213528586.	NM_000258.3(MYL3):c.481G>A (p.Gly161Ser) GRCh37: Chr3:46900965 GRCh38: Chr3:46859475	MYL3	G103S, E103K, G161S	Hypertrophic cardiomyopathy	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 58528787.	NM_000258.3(MYL3):c.481G>T (p.Gly161Cys) GRCh37: Chr3:46900965 GRCh38: Chr3:46859475	MYL3	G161C	Hypertrophic cardiomyopathy 8	Uncertain significance (Mar 29, 2018)	criteria provided, single submitter
Select item 26371188.	NM_000258.3(MYL3):c.477G>A (p.Thr159=) GRCh37: Chr3:46900969 GRCh38: Chr3:46859479	MYL3		Cardiomyopathy, Hypertrophic cardiomyopathy, not provided, Cardiovascular phenotype	Likely benign (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22762389.	NM_000258.3(MYL3):c.477G>T (p.Thr159=) GRCh37: Chr3:46900969 GRCh38: Chr3:46859479	MYL3		not specified, Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy	Benign/Likely benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91894890.	NM_000258.3(MYL3):c.476C>T (p.Thr159Met) GRCh37: Chr3:46900970 GRCh38: Chr3:46859480	MYL3	T159M	Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy	Uncertain significance (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174288091.	NM_000258.3(MYL3):c.475A>T (p.Thr159Ser) GRCh37: Chr3:46900971 GRCh38: Chr3:46859481	MYL3	T101S, T159S	Cardiovascular phenotype	Uncertain significance (Aug 28, 2018)	criteria provided, single submitter
Select item 84848992.	NM_000258.3(MYL3):c.466G>C (p.Val156Leu) GRCh37: Chr3:46900980 GRCh38: Chr3:46859490	MYL3	V156L	Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 17784193.	NM_000258.3(MYL3):c.466G>T (p.Val156Leu) GRCh37: Chr3:46900980 GRCh38: Chr3:46859490	MYL3	V156L	not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 8, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 3177894.	NM_000258.3(MYL3):c.466G>A (p.Val156Met) GRCh37: Chr3:46900980 GRCh38: Chr3:46859490	MYL3	V156M	Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 8, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Aug 28, 2023)	criteria provided, conflicting interpretations
Select item 39132895.	NM_000258.3(MYL3):c.465C>T (p.His155=) GRCh37: Chr3:46900981 GRCh38: Chr3:46859491	MYL3		not specified, Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy	Likely benign (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204497696.	NM_000258.3(MYL3):c.464A>T (p.His155Leu) GRCh37: Chr3:46900982 GRCh38: Chr3:46859492	MYL3	H97L, H155L	Hypertrophic cardiomyopathy	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 3178397.	NM_000258.3(MYL3):c.463C>G (p.His155Asp) GRCh37: Chr3:46900983 GRCh38: Chr3:46859493	MYL3	H155D	not provided, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (May 5, 2022)	criteria provided, conflicting interpretations
Select item 1406298.	NM_000258.3(MYL3):c.461G>A (p.Arg154His) GRCh37: Chr3:46900985 GRCh38: Chr3:46859495	MYL3	R154H	Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4312499.	NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) GRCh37: Chr3:46900986 GRCh38: Chr3:46859496	MYL3	R154C	Cardiovascular phenotype, not specified, Cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1994344100.	NM_000258.3(MYL3):c.454_458delinsCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCACG (p.Glu152_Leu153delinsLeuThrArgProSerHisPheSerIleGlyValSerAlaTyrHisGlnGlyAlaTrpGlnIleSerMetAspProAspAlaProAlaAsnHisTyrCysMetSerProArg) GRCh37: Chr3:46900988-46900992 GRCh38: Chr3:46859498-46859502	MYL3		Hypertrophic cardiomyopathy	Uncertain significance (May 14, 2022)	criteria provided, single submitter

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