ClinVar for MedGen (Select 350526) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25770061.	NM_000256.3(MYBPC3):c.655-25A>G GRCh37: Chr11:47370117 GRCh38: Chr11:47348566	MYBPC3		Hypertrophic cardiomyopathy 4	Likely benign (Mar 19, 2023)	no assertion criteria provided
Select item 25770052.	NM_000256.3(MYBPC3):c.505+1dup GRCh37: Chr11:47371563-47371564 GRCh38: Chr11:47350012-47350013	MYBPC3		Hypertrophic cardiomyopathy 4	Likely pathogenic (Mar 19, 2023)	no assertion criteria provided
Select item 25770043.	NM_000256.3(MYBPC3):c.3020G>A (p.Trp1007Ter) GRCh37: Chr11:47355278 GRCh38: Chr11:47333727	MYBPC3	W1007*	Hypertrophic cardiomyopathy 4	Likely pathogenic (Mar 19, 2023)	no assertion criteria provided
Select item 25770034.	NM_000256.3(MYBPC3):c.2806_2807del (p.Thr936fs) GRCh37: Chr11:47356691-47356692 GRCh38: Chr11:47335140-47335141	MYBPC3	T936fs	Hypertrophic cardiomyopathy 4	Pathogenic (Mar 19, 2023)	no assertion criteria provided
Select item 25770025.	NM_000256.3(MYBPC3):c.1575_1588del (p.Tyr525_Ser530delinsTer) GRCh37: Chr11:47364165-47364178 GRCh38: Chr11:47342614-47342627	MYBPC3		Hypertrophic cardiomyopathy 4	Pathogenic (Mar 19, 2023)	no assertion criteria provided
Select item 25729946.	NM_000256.3(MYBPC3):c.1302C>G (p.Tyr434Ter) GRCh37: Chr11:47364621 GRCh38: Chr11:47343070	MYBPC3	Y434*	Hypertrophic cardiomyopathy 4	Pathogenic (May 5, 2023)	criteria provided, single submitter
Select item 25706347.	NM_000256.3(MYBPC3):c.1652_1656del (p.Ile551fs) GRCh37: Chr11:47363676-47363680 GRCh38: Chr11:47342125-47342129	MYBPC3	I551fs	Hypertrophic cardiomyopathy 4	Likely pathogenic (Jul 4, 2023)	criteria provided, single submitter
Select item 25055798.	NM_000256.3(MYBPC3):c.560del (p.Pro187fs) GRCh37: Chr11:47371419 GRCh38: Chr11:47349868	MYBPC3	P187fs	Hypertrophic cardiomyopathy 4	Likely pathogenic (Aug 8, 2019)	criteria provided, single submitter
Select item 25053469.	NM_000256.3(MYBPC3):c.1329T>A (p.Cys443Ter) GRCh37: Chr11:47364594 GRCh38: Chr11:47343043	MYBPC3	C443*	Hypertrophic cardiomyopathy 4	Likely pathogenic (May 30, 2023)	criteria provided, single submitter
Select item 244442610.	NM_000256.3(MYBPC3):c.482C>G (p.Pro161Arg) GRCh37: Chr11:47371588 GRCh38: Chr11:47350037	MYBPC3	P161R	Hypertrophic cardiomyopathy 4	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244440611.	NM_000256.3(MYBPC3):c.388del (p.Ser130fs) GRCh37: Chr11:47372071 GRCh38: Chr11:47350520	MYBPC3	S130fs	Hypertrophic cardiomyopathy 4	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244439212.	NM_000256.3(MYBPC3):c.2240del (p.Gly747fs) GRCh37: Chr11:47360139 GRCh38: Chr11:47338588	MYBPC3	G747fs	Hypertrophic cardiomyopathy 4	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244429313.	NM_000256.3(MYBPC3):c.26-1G>T GRCh37: Chr11:47373057 GRCh38: Chr11:47351506	MYBPC3		Hypertrophic cardiomyopathy 4	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244421214.	NM_000256.3(MYBPC3):c.2067+2del GRCh37: Chr11:47361200 GRCh38: Chr11:47339649	MYBPC3		Hypertrophic cardiomyopathy 4	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244408115.	NM_000256.3(MYBPC3):c.1113_1116del (p.Ala372fs) GRCh37: Chr11:47365150-47365153 GRCh38: Chr11:47343599-47343602	MYBPC3	A372fs	Hypertrophic cardiomyopathy 4	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244403616.	NM_000256.3(MYBPC3):c.3677dup (p.Phe1227fs) GRCh37: Chr11:47353759-47353760 GRCh38: Chr11:47332208-47332209	MYBPC3	F1227fs	Hypertrophic cardiomyopathy 4	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 213706717.	NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs) GRCh37: Chr11:47353723-47353724 GRCh38: Chr11:47332172-47332173	MYBPC3	L1238fs	Cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207518518.	NM_000256.3(MYBPC3):c.2729del (p.Pro910fs) GRCh37: Chr11:47357436 GRCh38: Chr11:47335885	MYBPC3	P910fs	Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10	Pathogenic (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180313719.	NM_000256.3(MYBPC3):c.3471del (p.Val1158fs) GRCh37: Chr11:47354384 GRCh38: Chr11:47332833	MYBPC3	V1158fs	Hypertrophic cardiomyopathy 4	Likely pathogenic (Mar 9, 2021)	criteria provided, single submitter
Select item 170916620.	NM_000256.3(MYBPC3):c.3227_3233del (p.Asp1076fs) GRCh37: Chr11:47354842-47354848 GRCh38: Chr11:47333291-47333297	MYBPC3	D1076fs	Hypertrophic cardiomyopathy 4	Likely pathogenic (Feb 14, 2022)	criteria provided, single submitter
Select item 170540821.	NM_000256.3(MYBPC3):c.2413G>A (p.Gly805Ser) GRCh37: Chr11:47359241 GRCh38: Chr11:47337690	MYBPC3	G805S	Hypertrophic cardiomyopathy 4	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 170538722.	NM_000256.3(MYBPC3):c.2449del (p.Arg817fs) GRCh37: Chr11:47359095 GRCh38: Chr11:47337544	MYBPC3	R817fs	Hypertrophic cardiomyopathy 4	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170537823.	NM_000256.3(MYBPC3):c.1595dup (p.Gln533fs) GRCh37: Chr11:47364157-47364158 GRCh38: Chr11:47342606-47342607	MYBPC3	Q533fs	Hypertrophic cardiomyopathy 4	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170533524.	NM_000256.3(MYBPC3):c.3805G>T (p.Glu1269Ter) GRCh37: Chr11:47353632 GRCh38: Chr11:47332081	MYBPC3	E1269*	Hypertrophic cardiomyopathy 4	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 169036825.	NM_000256.3(MYBPC3):c.773-1G>C GRCh37: Chr11:47369457 GRCh38: Chr11:47347906	MYBPC3		Hypertrophic cardiomyopathy 4	Likely pathogenic (Apr 13, 2021)	criteria provided, single submitter
Select item 168741926.	NM_000256.3(MYBPC3):c.1526_1527del (p.Arg509fs) GRCh37: Chr11:47364226-47364227 GRCh38: Chr11:47342675-47342676	MYBPC3	R509fs	Hypertrophic cardiomyopathy 4	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168728527.	NM_000256.3(MYBPC3):c.3168del (p.Thr1057fs) GRCh37: Chr11:47355130 GRCh38: Chr11:47333579	MYBPC3	T1057fs	Hypertrophic cardiomyopathy 4	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168724128.	NM_000256.3(MYBPC3):c.3768_3771del (p.Asn1257fs) GRCh37: Chr11:47353666-47353669 GRCh38: Chr11:47332115-47332118	MYBPC3	N1257fs	Hypertrophic cardiomyopathy 4	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168720529.	NM_000256.3(MYBPC3):c.1645C>T (p.Gln549Ter) GRCh37: Chr11:47363687 GRCh38: Chr11:47342136	MYBPC3	Q549*	Hypertrophic cardiomyopathy 4	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 167781330.	NM_000256.3(MYBPC3):c.35T>C (p.Phe12Ser) GRCh37: Chr11:47373047 GRCh38: Chr11:47351496	MYBPC3	F12S	not provided, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10	Uncertain significance (Jan 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167756431.	NM_000256.3(MYBPC3):c.2543C>T (p.Ala848Val) GRCh37: Chr11:47359001 GRCh38: Chr11:47337450	MYBPC3	A848V	not provided, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10	Uncertain significance (Oct 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 154526232.	NM_000256.3(MYBPC3):c.773-18T>C GRCh37: Chr11:47369474 GRCh38: Chr11:47347923	MYBPC3		Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10	Benign/Likely benign (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150912033.	NM_000256.3(MYBPC3):c.901A>C (p.Lys301Gln) GRCh37: Chr11:47368981 GRCh38: Chr11:47347430	MYBPC3	K301Q	Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148788534.	NM_000256.3(MYBPC3):c.407-1G>A GRCh37: Chr11:47371664 GRCh38: Chr11:47350113	MYBPC3		Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10	Likely pathogenic (Jan 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146878335.	NM_000256.3(MYBPC3):c.2816G>C (p.Arg939Pro) GRCh37: Chr11:47356682 GRCh38: Chr11:47335131	MYBPC3	R939P	Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 138387036.	NM_000256.3(MYBPC3):c.2788C>G (p.Leu930Val) GRCh37: Chr11:47356710 GRCh38: Chr11:47335159	MYBPC3	L930V	Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy, Cardiovascular phenotype	Uncertain significance (Mar 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133396837.	NM_000256.3(MYBPC3):c.1927+1G>T GRCh37: Chr11:47362553 GRCh38: Chr11:47341002	MYBPC3		Hypertrophic cardiomyopathy 4	Likely pathogenic (Apr 10, 2018)	criteria provided, single submitter
Select item 133356838.	NM_000256.3(MYBPC3):c.86del (p.Phe29fs) GRCh37: Chr11:47372996 GRCh38: Chr11:47351445	MYBPC3	F29fs	Hypertrophic cardiomyopathy 4	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 133351039.	NM_000256.3(MYBPC3):c.1609G>T (p.Glu537Ter) GRCh37: Chr11:47364144 GRCh38: Chr11:47342593	MYBPC3	E537*	Hypertrophic cardiomyopathy 4	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 133349040.	NM_000256.3(MYBPC3):c.655-2A>G GRCh37: Chr11:47370094 GRCh38: Chr11:47348543	MYBPC3		Cardiomyopathy, Hypertrophic cardiomyopathy 4	Likely pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133335641.	NM_000256.3(MYBPC3):c.2149-2A>C GRCh37: Chr11:47360232 GRCh38: Chr11:47338681	MYBPC3		Hypertrophic cardiomyopathy 4	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 133326242.	NM_000256.3(MYBPC3):c.3313_3314insGG (p.Ala1105fs) GRCh37: Chr11:47354761-47354762 GRCh38: Chr11:47333210-47333211	MYBPC3	A1105fs	Hypertrophic cardiomyopathy 4	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 133236743.	NM_000256.3(MYBPC3):c.1167C>G (p.Asp389Glu) GRCh37: Chr11:47365099 GRCh38: Chr11:47343548	MYBPC3	D389E	Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133086344.	NM_000256.3(MYBPC3):c.2849C>A (p.Ala950Glu) GRCh37: Chr11:47356649 GRCh38: Chr11:47335098	MYBPC3	A950E	Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, not provided	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130174145.	NM_000256.3(MYBPC3):c.2148+1G>A GRCh37: Chr11:47360874 GRCh38: Chr11:47339323	MYBPC3		not provided, Hypertrophic cardiomyopathy 4	Pathogenic/Likely pathogenic (Dec 17, 2022)	criteria provided, single submitter
Select item 129959646.	NM_000256.3(MYBPC3):c.1669G>T (p.Gly557Cys) GRCh37: Chr11:47363663 GRCh38: Chr11:47342112	MYBPC3	G557C	Hypertrophic cardiomyopathy 4	Uncertain significance (Oct 6, 2021)	criteria provided, single submitter
Select item 128544647.	NM_000256.3(MYBPC3):c.1432_1436delinsGC (p.Ser478_Glu479delinsAla) GRCh37: Chr11:47364402-47364406 GRCh38: Chr11:47342851-47342855	MYBPC3		Hypertrophic cardiomyopathy 4	Uncertain significance (Nov 11, 2020)	criteria provided, single submitter
Select item 117244148.	NM_000256.3(MYBPC3):c.3340A>G (p.Thr1114Ala) GRCh37: Chr11:47354515 GRCh38: Chr11:47332964	MYBPC3	T1114A	not provided, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117160249.	NM_000256.3(MYBPC3):c.3197C>G (p.Pro1066Arg) GRCh37: Chr11:47354878 GRCh38: Chr11:47333327	MYBPC3	P1066R	Cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107433950.	NM_000256.3(MYBPC3):c.2164G>T (p.Glu722Ter) GRCh37: Chr11:47360215 GRCh38: Chr11:47338664	MYBPC3	E722*	Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4	Pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106253151.	NM_000256.3(MYBPC3):c.1454A>G (p.Lys485Arg) GRCh37: Chr11:47364384 GRCh38: Chr11:47342833	MYBPC3	K485R	Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy	Uncertain significance (Jan 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 105375452.	NM_000256.3(MYBPC3):c.2149-80G>A GRCh37: Chr11:47360310 GRCh38: Chr11:47338759	MYBPC3		Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103733853.	NM_000256.3(MYBPC3):c.1585A>T (p.Thr529Ser) GRCh37: Chr11:47364168 GRCh38: Chr11:47342617	MYBPC3	T529S	Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy	Uncertain significance (Sep 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99240054.	NM_000256.3(MYBPC3):c.3620del (p.Ser1207fs) GRCh37: Chr11:47354124 GRCh38: Chr11:47332573	MYBPC3	S1207fs	Cardiomyopathy	Likely pathogenic (Jan 21, 2020)	criteria provided, single submitter
Select item 98635355.	NM_000256.3(MYBPC3):c.3766del (p.Thr1256fs) GRCh37: Chr11:47353671 GRCh38: Chr11:47332120	MYBPC3	T1256fs	Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4	Pathogenic (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 97872956.	NM_000256.3(MYBPC3):c.2711_2737del (p.Tyr904_Gly912del) GRCh37: Chr11:47357428-47357454 GRCh38: Chr11:47335877-47335903	MYBPC3		Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10	Likely pathogenic	criteria provided, single submitter
Select item 96372257.	NM_000256.3(MYBPC3):c.1128del (p.Ser376fs) GRCh37: Chr11:47365138 GRCh38: Chr11:47343587	MYBPC3	S376fs	Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Nov 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96013558.	NM_000257.4(MYH7):c.5769del (p.Ser1924fs) GRCh37: Chr14:23882989 GRCh38: Chr14:23413780	MYH7	S1924fs	not provided, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4	Conflicting interpretations of pathogenicity (Apr 1, 2022)	criteria provided, conflicting interpretations
Select item 94172759.	NM_000256.3(MYBPC3):c.821+6T>C GRCh37: Chr11:47369402 GRCh38: Chr11:47347851	MYBPC3		Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93207460.	NM_000256.3(MYBPC3):c.3785C>T (p.Ala1262Val) GRCh37: Chr11:47353652 GRCh38: Chr11:47332101	MYBPC3	A1262V	Hypertrophic cardiomyopathy 4	Uncertain significance (Apr 12, 2019)	criteria provided, single submitter
Select item 93125261.	NM_000256.3(MYBPC3):c.1010C>T (p.Ala337Val) GRCh37: Chr11:47367838 GRCh38: Chr11:47346287	MYBPC3	A337V	Cardiomyopathy, Hypertrophic cardiomyopathy 4	Uncertain significance (Feb 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92831162.	NM_000256.3(MYBPC3):c.630C>T (p.His210=) GRCh37: Chr11:47371349 GRCh38: Chr11:47349798	MYBPC3		Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92744563.	NM_000256.3(MYBPC3):c.592G>A (p.Asp198Asn) GRCh37: Chr11:47371387 GRCh38: Chr11:47349836	MYBPC3	D198N	Cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10	Uncertain significance (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92705064.	NM_000256.3(MYBPC3):c.2327C>T (p.Ala776Val) GRCh37: Chr11:47359327 GRCh38: Chr11:47337776	MYBPC3	A776V	not provided, Cardiomyopathy, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10	Uncertain significance (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92701365.	NM_000256.3(MYBPC3):c.372C>A (p.Ala124=) GRCh37: Chr11:47372087 GRCh38: Chr11:47350536	MYBPC3		Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92689066.	NM_000256.3(MYBPC3):c.1521G>A (p.Gly507=) GRCh37: Chr11:47364232 GRCh38: Chr11:47342681	MYBPC3		Cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10	Likely benign (Jul 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92542867.	NM_000256.3(MYBPC3):c.2915G>A (p.Arg972Gln) GRCh37: Chr11:47355552 GRCh38: Chr11:47334001	MYBPC3	R972Q	Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype, not specified	Uncertain significance (Mar 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 92534768.	NM_000256.3(MYBPC3):c.2965G>A (p.Glu989Lys) GRCh37: Chr11:47355502 GRCh38: Chr11:47333951	MYBPC3	E989K	Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Cardiomyopathy	Uncertain significance (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92446669.	NM_000256.3(MYBPC3):c.2198G>T (p.Arg733Leu) GRCh37: Chr11:47360181 GRCh38: Chr11:47338630	MYBPC3	R733L	Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Oct 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92124470.	NM_000256.3(MYBPC3):c.1227-9C>A GRCh37: Chr11:47364705 GRCh38: Chr11:47343154	MYBPC3		Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Cardiomyopathy, not provided, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 92104071.	NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg) GRCh37: Chr11:47372949 GRCh38: Chr11:47351398	MYBPC3	G45R	Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92070972.	NM_000256.3(MYBPC3):c.1578A>G (p.Ala526=) GRCh37: Chr11:47364175 GRCh38: Chr11:47342624	MYBPC3		Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy	Likely benign (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91999673.	NM_000256.3(MYBPC3):c.3072C>A (p.Ser1024Arg) GRCh37: Chr11:47355226 GRCh38: Chr11:47333675	MYBPC3	S1024R	Cardiomyopathy, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91992174.	NM_000256.3(MYBPC3):c.2399G>A (p.Gly800Glu) GRCh37: Chr11:47359255 GRCh38: Chr11:47337704	MYBPC3	G800E	not provided, Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy	Uncertain significance (Apr 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91941375.	NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln) GRCh37: Chr11:47353625 GRCh38: Chr11:47332074	MYBPC3	R1271Q	not specified, Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy	Uncertain significance (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91928776.	NM_000256.3(MYBPC3):c.2273G>A (p.Gly758Asp) GRCh37: Chr11:47360106 GRCh38: Chr11:47338555	MYBPC3	G758D	Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy 4	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 91877977.	NM_000256.3(MYBPC3):c.1601C>T (p.Ala534Val) GRCh37: Chr11:47364152 GRCh38: Chr11:47342601	MYBPC3	A534V	Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91828478.	NM_000256.3(MYBPC3):c.2708G>A (p.Gly903Asp) GRCh37: Chr11:47357457 GRCh38: Chr11:47335906	MYBPC3	G903D	Cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10	Uncertain significance (Nov 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91578179.	NM_000256.3(MYBPC3):c.1375C>T (p.Pro459Ser) GRCh37: Chr11:47364463 GRCh38: Chr11:47342912	MYBPC3	P459S	Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91572380.	NM_000256.3(MYBPC3):c.3759dup (p.Arg1254fs) GRCh37: Chr11:47353677-47353678 GRCh38: Chr11:47332126-47332127	MYBPC3	R1254fs	Cardiomyopathy, Hypertrophic cardiomyopathy 4	Likely pathogenic (Jan 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88030881.	NM_000256.3(MYBPC3):c.852-14G>T GRCh37: Chr11:47369044 GRCh38: Chr11:47347493	MYBPC3		Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Cardiomyopathy, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 88025482.	NM_000256.3(MYBPC3):c.1638G>A (p.Glu546=) GRCh37: Chr11:47363694 GRCh38: Chr11:47342143	MYBPC3		Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (May 10, 2022)	criteria provided, conflicting interpretations
Select item 88011283.	NM_000256.3(MYBPC3):c.3810G>A (p.Val1270=) GRCh37: Chr11:47353627 GRCh38: Chr11:47332076	MYBPC3		Hypertrophic cardiomyopathy 4, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype, Left ventricular noncompaction 10	Conflicting interpretations of pathogenicity (May 30, 2023)	criteria provided, conflicting interpretations
Select item 88011184.	NM_000256.3(MYBPC3):c.3815-12C>T GRCh37: Chr11:47353444 GRCh38: Chr11:47331893	MYBPC3		Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87918785.	NM_000256.3(MYBPC3):c.-34T>A GRCh37: Chr11:47374232 GRCh38: Chr11:47352681	MYBPC3		Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87903986.	NM_000256.3(MYBPC3):c.1822C>G (p.Pro608Ala) GRCh37: Chr11:47362764 GRCh38: Chr11:47341213	MYBPC3	P608A	Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87893487.	NM_000256.3(MYBPC3):c.3301A>G (p.Thr1101Ala) GRCh37: Chr11:47354774 GRCh38: Chr11:47333223	MYBPC3	T1101A	Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 87850688.	NM_000256.3(MYBPC3):c.1152C>T (p.Thr384=) GRCh37: Chr11:47365114 GRCh38: Chr11:47343563	MYBPC3		Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Cardiovascular phenotype, Left ventricular noncompaction 10, Cardiomyopathy	Conflicting interpretations of pathogenicity (Jul 15, 2022)	criteria provided, conflicting interpretations
Select item 87844589.	NM_000256.3(MYBPC3):c.1991G>T (p.Gly664Val) GRCh37: Chr11:47361278 GRCh38: Chr11:47339727	MYBPC3	G664V	Hypertrophic cardiomyopathy, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87844490.	NM_000256.3(MYBPC3):c.2149-5C>A GRCh37: Chr11:47360235 GRCh38: Chr11:47338684	MYBPC3		Hypertrophic cardiomyopathy, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 87834291.	NM_000256.3(MYBPC3):c.3615G>C (p.Arg1205=) GRCh37: Chr11:47354129 GRCh38: Chr11:47332578	MYBPC3		Hypertrophic cardiomyopathy, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4	Conflicting interpretations of pathogenicity (Nov 14, 2021)	criteria provided, conflicting interpretations
Select item 87830092.	NM_000256.3(MYBPC3):c.*212C>G GRCh37: Chr11:47353082 GRCh38: Chr11:47331531	MYBPC3		Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87829993.	NM_000256.3(MYBPC3):c.*275G>A GRCh37: Chr11:47353019 GRCh38: Chr11:47331468	MYBPC3		Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87756894.	NM_000256.3(MYBPC3):c.283A>C (p.Ile95Leu) GRCh37: Chr11:47372799 GRCh38: Chr11:47351248	MYBPC3	I95L	Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Cardiovascular phenotype, Left ventricular noncompaction 10, not provided	Uncertain significance (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87742395.	NM_000256.3(MYBPC3):c.2246A>G (p.Tyr749Cys) GRCh37: Chr11:47360133 GRCh38: Chr11:47338582	MYBPC3	Y749C	Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Left ventricular noncompaction 10	Conflicting interpretations of pathogenicity (Jan 5, 2022)	criteria provided, conflicting interpretations
Select item 87736996.	NM_000256.3(MYBPC3):c.2901C>A (p.Ile967=) GRCh37: Chr11:47356597 GRCh38: Chr11:47335046	MYBPC3		Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Left ventricular noncompaction 10, Cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 30, 2020)	criteria provided, conflicting interpretations
Select item 84623597.	NM_000256.3(MYBPC3):c.821C>T (p.Thr274Met) GRCh37: Chr11:47369408 GRCh38: Chr11:47347857	MYBPC3	T274M	Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy, Cardiomyopathy	Uncertain significance (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84039798.	NM_000256.3(MYBPC3):c.3217C>T (p.Arg1073Trp) GRCh37: Chr11:47354858 GRCh38: Chr11:47333307	MYBPC3	R1073W	Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83776399.	NM_000256.3(MYBPC3):c.1809T>G (p.Ile603Met) GRCh37: Chr11:47362777 GRCh38: Chr11:47341226	MYBPC3	I603M	Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 836895100.	NM_000256.3(MYBPC3):c.2285T>A (p.Val762Asp) GRCh37: Chr11:47360094 GRCh38: Chr11:47338543	MYBPC3	V762D	Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts

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