ClinVar for MedGen (Select 331754) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 329

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24230841.	NC_000012.11:g.(?_111350880)_(111352114_?)dup GRCh37: Chr12:111350880-111352114	MYL2		Hypertrophic cardiomyopathy 10	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 24230832.	NC_000012.11:g.(?_111348881)_(111358333_?)dup GRCh37: Chr12:111348881-111358333	MYL2		Hypertrophic cardiomyopathy 10	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 24230823.	NC_000012.11:g.(?_111356888)_(111358333_?)del GRCh37: Chr12:111356888-111358333	MYL2		Hypertrophic cardiomyopathy 10	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 24230814.	NC_000012.11:g.(?_111348881)_(111358333_?)del GRCh37: Chr12:111348881-111358333	MYL2		Hypertrophic cardiomyopathy 10	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 21890465.	NM_000432.4(MYL2):c.4-9T>C GRCh37: Chr12:111357006 GRCh38: Chr12:110919202	LOC114827850, MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 21878476.	NM_000432.4(MYL2):c.3+20G>A GRCh37: Chr12:111358311 GRCh38: Chr12:110920507	LOC114827850, MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 21857147.	NM_000432.4(MYL2):c.3+14C>T GRCh37: Chr12:111358317 GRCh38: Chr12:110920513	LOC114827850, MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 21780558.	NM_000432.4(MYL2):c.275-19G>A GRCh37: Chr12:111351147 GRCh38: Chr12:110913343	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 21720989.	NM_000432.4(MYL2):c.431C>T (p.Pro144Leu) GRCh37: Chr12:111348951 GRCh38: Chr12:110911147	MYL2	P130L, P144L, P125L	Hypertrophic cardiomyopathy 10	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 216354110.	NM_000432.4(MYL2):c.160G>A (p.Ala54Thr) GRCh37: Chr12:111353528 GRCh38: Chr12:110915724	MYL2	A35T, A54T	Hypertrophic cardiomyopathy 10	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 216126111.	NM_000432.4(MYL2):c.353+19G>A GRCh37: Chr12:111351031 GRCh38: Chr12:110913227	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 215635012.	NM_000432.4(MYL2):c.403G>T (p.Val135Phe) GRCh37: Chr12:111348979 GRCh38: Chr12:110911175	MYL2	V135F, V116F, V121F	Hypertrophic cardiomyopathy 10	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 215509213.	NM_000432.4(MYL2):c.166_169+13del GRCh37: Chr12:111353506-111353522 GRCh38: Chr12:110915702-110915718	MYL2		Hypertrophic cardiomyopathy 10	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 215396214.	NM_000432.4(MYL2):c.402+9G>A GRCh37: Chr12:111350891 GRCh38: Chr12:110913087	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 215260315.	NM_000432.4(MYL2):c.403-18G>A GRCh37: Chr12:111348997 GRCh38: Chr12:110911193	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 215019416.	NM_000432.4(MYL2):c.274+11_274+12insGC GRCh37: Chr12:111351978-111351979 GRCh38: Chr12:110914174-110914175	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 215010517.	NM_000432.4(MYL2):c.4-8del GRCh37: Chr12:111357005 GRCh38: Chr12:110919201	LOC114827850, MYL2		Hypertrophic cardiomyopathy 10	Benign (Nov 30, 2021)	criteria provided, single submitter
Select item 214868318.	NM_000432.4(MYL2):c.403-1G>A GRCh37: Chr12:111348980 GRCh38: Chr12:110911176	MYL2		Hypertrophic cardiomyopathy 10	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 212933919.	NM_000432.4(MYL2):c.341_348dup (p.Asp117Ter) GRCh37: Chr12:111351054-111351055 GRCh38: Chr12:110913250-110913251	MYL2	D117*	Hypertrophic cardiomyopathy 10	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 212616720.	NM_000432.4(MYL2):c.101C>A (p.Thr34Asn) GRCh37: Chr12:111353587 GRCh38: Chr12:110915783	MYL2	T34N, T15N	Hypertrophic cardiomyopathy 10	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 211986221.	NM_000432.4(MYL2):c.402+7G>C GRCh37: Chr12:111350893 GRCh38: Chr12:110913089	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 211876522.	NM_000432.4(MYL2):c.94-17T>C GRCh37: Chr12:111353611 GRCh38: Chr12:110915807	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 209468023.	NM_000432.4(MYL2):c.436G>C (p.Val146Leu) GRCh37: Chr12:111348946 GRCh38: Chr12:110911142	MYL2	V132L, V127L, V146L	Hypertrophic cardiomyopathy 10	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 208780024.	NM_000432.4(MYL2):c.94-1G>C GRCh37: Chr12:111353595 GRCh38: Chr12:110915791	MYL2		Hypertrophic cardiomyopathy 10	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 207866925.	NM_000432.4(MYL2):c.424T>A (p.Phe142Ile) GRCh37: Chr12:111348958 GRCh38: Chr12:110911154	MYL2	F123I, F128I, F142I	Hypertrophic cardiomyopathy 10	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 204637926.	NM_000432.4(MYL2):c.259G>C (p.Gly87Arg) GRCh37: Chr12:111352005 GRCh38: Chr12:110914201	MYL2	G87R, G73R, G68R	Hypertrophic cardiomyopathy 10	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 202097827.	NM_000432.4(MYL2):c.50del (p.Val17fs) GRCh37: Chr12:111356951 GRCh38: Chr12:110919147	LOC114827850, MYL2	V17fs	Hypertrophic cardiomyopathy 10	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 201768628.	NM_000432.4(MYL2):c.263A>C (p.Glu88Ala) GRCh37: Chr12:111352001 GRCh38: Chr12:110914197	MYL2	E69A, E74A, E88A	Hypertrophic cardiomyopathy 10	Uncertain significance (Nov 29, 2021)	criteria provided, single submitter
Select item 201132029.	NM_000432.4(MYL2):c.169+3A>T GRCh37: Chr12:111353516 GRCh38: Chr12:110915712	MYL2		Hypertrophic cardiomyopathy 10	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 200230330.	NM_000432.4(MYL2):c.493A>G (p.Lys165Glu) GRCh37: Chr12:111348889 GRCh38: Chr12:110911085	MYL2	K151E, K165E, K146E	Hypertrophic cardiomyopathy 10	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 200038531.	NM_000432.4(MYL2):c.486A>T (p.Gly162=) GRCh37: Chr12:111348896 GRCh38: Chr12:110911092	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 199655632.	NM_000432.4(MYL2):c.284C>T (p.Pro95Leu) GRCh37: Chr12:111351119 GRCh38: Chr12:110913315	MYL2	P76L, P81L, P95L	Hypertrophic cardiomyopathy 10	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 199084333.	NM_000432.4(MYL2):c.391T>A (p.Ser131Thr) GRCh37: Chr12:111350911 GRCh38: Chr12:110913107	MYL2	S131T, S112T, S117T	Hypertrophic cardiomyopathy 10	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 198258634.	NM_000432.4(MYL2):c.221C>G (p.Pro74Arg) GRCh37: Chr12:111352043 GRCh38: Chr12:110914239	MYL2	P60R, P55R, P74R	Hypertrophic cardiomyopathy 10	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 194899135.	NM_000432.4(MYL2):c.389T>A (p.Phe130Tyr) GRCh37: Chr12:111350913 GRCh38: Chr12:110913109	MYL2	F130Y, F116Y, F111Y	Hypertrophic cardiomyopathy 10	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 194137336.	NM_000432.4(MYL2):c.18A>G (p.Ala6=) GRCh37: Chr12:111356983 GRCh38: Chr12:110919179	LOC114827850, MYL2		Hypertrophic cardiomyopathy 10, Cardiovascular phenotype	Likely benign (Jan 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 191775437.	NM_000432.4(MYL2):c.419C>T (p.Ala140Val) GRCh37: Chr12:111348963 GRCh38: Chr12:110911159	MYL2	A140V, A121V, A126V	Hypertrophic cardiomyopathy 10	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 191507438.	NM_000432.4(MYL2):c.409C>T (p.Gln137Ter) GRCh37: Chr12:111348973 GRCh38: Chr12:110911169	MYL2	Q118, Q123, Q137*	Hypertrophic cardiomyopathy 10	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 174296439.	NM_000432.4(MYL2):c.476T>C (p.Ile159Thr) GRCh37: Chr12:111348906 GRCh38: Chr12:110911102	MYL2	I159T, I140T, I145T	Hypertrophic cardiomyopathy 10, Cardiovascular phenotype	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172007440.	NM_000432.4(MYL2):c.490G>A (p.Glu164Lys) GRCh37: Chr12:111348892 GRCh38: Chr12:110911088	MYL2	E145K, E150K, E164K	Cardiovascular phenotype, Hypertrophic cardiomyopathy 10	Uncertain significance (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169942441.	NM_000432.4(MYL2):c.205A>C (p.Met69Leu) GRCh37: Chr12:111352059 GRCh38: Chr12:110914255	MYL2	M69L	Hypertrophic cardiomyopathy 10	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 166019242.	NM_000432.4(MYL2):c.353+9G>A GRCh37: Chr12:111351041 GRCh38: Chr12:110913237	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Dec 9, 2020)	criteria provided, single submitter
Select item 163483143.	NM_000432.4(MYL2):c.367C>T (p.Leu123=) GRCh37: Chr12:111350935 GRCh38: Chr12:110913131	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Feb 18, 2021)	criteria provided, single submitter
Select item 163145044.	NM_000432.4(MYL2):c.170-17T>C GRCh37: Chr12:111352111 GRCh38: Chr12:110914307	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (May 3, 2021)	criteria provided, single submitter
Select item 162871845.	NM_000432.4(MYL2):c.274+7T>C GRCh37: Chr12:111351983 GRCh38: Chr12:110914179	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 162559046.	NM_000432.4(MYL2):c.138G>A (p.Lys46=) GRCh37: Chr12:111353550 GRCh38: Chr12:110915746	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Jun 28, 2021)	criteria provided, single submitter
Select item 162150347.	NM_000432.4(MYL2):c.169+13C>T GRCh37: Chr12:111353506 GRCh38: Chr12:110915702	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 161414248.	NM_000432.4(MYL2):c.99C>T (p.Phe33=) GRCh37: Chr12:111353589 GRCh38: Chr12:110915785	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 161240049.	NM_000432.4(MYL2):c.402+10T>A GRCh37: Chr12:111350890 GRCh38: Chr12:110913086	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Oct 24, 2021)	criteria provided, single submitter
Select item 161059450.	NM_000432.4(MYL2):c.353+21A>C GRCh37: Chr12:111351029 GRCh38: Chr12:110913225	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Oct 13, 2021)	criteria provided, single submitter
Select item 161025151.	NM_000432.4(MYL2):c.4-19C>T GRCh37: Chr12:111357016 GRCh38: Chr12:110919212	LOC114827850, MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Nov 17, 2021)	criteria provided, single submitter
Select item 159624252.	NM_000432.4(MYL2):c.94-15A>C GRCh37: Chr12:111353609 GRCh38: Chr12:110915805	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Jul 27, 2021)	criteria provided, single submitter
Select item 159287753.	NM_000432.4(MYL2):c.93+9A>G GRCh37: Chr12:111356899 GRCh38: Chr12:110919095	LOC114827850, MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Oct 17, 2021)	criteria provided, single submitter
Select item 159041554.	NM_000432.4(MYL2):c.94-16C>G GRCh37: Chr12:111353610 GRCh38: Chr12:110915806	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 158878955.	NM_000432.4(MYL2):c.93+15T>C GRCh37: Chr12:111356893 GRCh38: Chr12:110919089	LOC114827850, MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Jul 21, 2021)	criteria provided, single submitter
Select item 156333456.	NM_000432.4(MYL2):c.354-20C>G GRCh37: Chr12:111350968 GRCh38: Chr12:110913164	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 156007157.	NM_000432.4(MYL2):c.4-6_4-5delinsTT GRCh37: Chr12:111357002-111357003 GRCh38: Chr12:110919198-110919199	LOC114827850, MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 155516058.	NM_000432.4(MYL2):c.183G>A (p.Val61=) GRCh37: Chr12:111352081 GRCh38: Chr12:110914277	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 155317459.	NM_000432.4(MYL2):c.169+18G>C GRCh37: Chr12:111353501 GRCh38: Chr12:110915697	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 154277360.	NM_000432.4(MYL2):c.354-17C>G GRCh37: Chr12:111350965 GRCh38: Chr12:110913161	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Mar 22, 2021)	criteria provided, single submitter
Select item 153635961.	NM_000432.4(MYL2):c.501G>A (p.Ter167=) GRCh37: Chr12:111348881 GRCh38: Chr12:110911077	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Feb 25, 2021)	criteria provided, single submitter
Select item 153190862.	NM_000432.4(MYL2):c.30C>A (p.Ala10=) GRCh37: Chr12:111356971 GRCh38: Chr12:110919167	LOC114827850, MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 151900063.	NM_000432.4(MYL2):c.93+4G>A GRCh37: Chr12:111356904 GRCh38: Chr12:110919100	LOC114827850, MYL2		Hypertrophic cardiomyopathy 10	Uncertain significance (Mar 24, 2021)	criteria provided, single submitter
Select item 151722564.	NM_000432.4(MYL2):c.197_203del (p.Ile66fs) GRCh37: Chr12:111352061-111352067 GRCh38: Chr12:110914257-110914263	MYL2	I66fs	Hypertrophic cardiomyopathy 10	Uncertain significance (Mar 17, 2021)	criteria provided, single submitter
Select item 151566065.	NM_000432.4(MYL2):c.35G>A (p.Gly12Asp) GRCh37: Chr12:111356966 GRCh38: Chr12:110919162	MYL2, LOC114827850	G12D	Hypertrophic cardiomyopathy 10	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 151110066.	NM_000432.4(MYL2):c.212A>T (p.Lys71Met) GRCh37: Chr12:111352052 GRCh38: Chr12:110914248	MYL2	K71M	Hypertrophic cardiomyopathy 10	Uncertain significance (Aug 7, 2021)	criteria provided, single submitter
Select item 150929467.	NM_000432.4(MYL2):c.352dup (p.Tyr118fs) GRCh37: Chr12:111351050-111351051 GRCh38: Chr12:110913246-110913247	MYL2	Y118fs	Hypertrophic cardiomyopathy 10	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 150229168.	NM_000432.4(MYL2):c.496G>C (p.Asp166His) GRCh37: Chr12:111348886 GRCh38: Chr12:110911082	MYL2	D166H	Hypertrophic cardiomyopathy 10	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 150001669.	NM_000432.4(MYL2):c.135C>A (p.Asp45Glu) GRCh37: Chr12:111353553 GRCh38: Chr12:110915749	MYL2	D45E	Hypertrophic cardiomyopathy 10	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 148960570.	NM_000432.4(MYL2):c.403-20G>A GRCh37: Chr12:111348999 GRCh38: Chr12:110911195	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Sep 15, 2021)	criteria provided, single submitter
Select item 148812371.	NM_000432.4(MYL2):c.46A>G (p.Asn16Asp) GRCh37: Chr12:111356955 GRCh38: Chr12:110919151	LOC114827850, MYL2	N16D	Hypertrophic cardiomyopathy 10	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 147490472.	NM_000432.4(MYL2):c.160G>T (p.Ala54Ser) GRCh37: Chr12:111353528 GRCh38: Chr12:110915724	MYL2	A54S	Hypertrophic cardiomyopathy 10	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 147380173.	NM_000432.4(MYL2):c.28G>C (p.Ala10Pro) GRCh37: Chr12:111356973 GRCh38: Chr12:110919169	LOC114827850, MYL2	A10P	Hypertrophic cardiomyopathy 10	Uncertain significance (Sep 8, 2021)	criteria provided, single submitter
Select item 145137974.	NM_000432.4(MYL2):c.353+16G>T GRCh37: Chr12:111351034 GRCh38: Chr12:110913230	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 145105675.	NM_000432.4(MYL2):c.71C>T (p.Thr24Ile) GRCh37: Chr12:111356930 GRCh38: Chr12:110919126	LOC114827850, MYL2	T24I	Hypertrophic cardiomyopathy 10	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 144086676.	NM_000432.4(MYL2):c.93+1G>A GRCh37: Chr12:111356907 GRCh38: Chr12:110919103	LOC114827850, MYL2		Hypertrophic cardiomyopathy 10	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 143936177.	NM_000432.4(MYL2):c.394A>C (p.Lys132Gln) GRCh37: Chr12:111350908 GRCh38: Chr12:110913104	MYL2	K132Q	Hypertrophic cardiomyopathy 10	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 143728178.	NM_000432.4(MYL2):c.274G>A (p.Gly92Arg) GRCh37: Chr12:111351990 GRCh38: Chr12:110914186	MYL2	G92R	Hypertrophic cardiomyopathy 10	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 143657079.	NM_000432.4(MYL2):c.94-19A>G GRCh37: Chr12:111353613 GRCh38: Chr12:110915809	MYL2		Hypertrophic cardiomyopathy 10	Likely benign (Feb 16, 2021)	criteria provided, single submitter
Select item 143549580.	NM_000432.4(MYL2):c.316_319del (p.Phe106fs) GRCh37: Chr12:111351084-111351087 GRCh38: Chr12:110913280-110913283	MYL2	F106fs	Hypertrophic cardiomyopathy 10	Uncertain significance (Nov 18, 2020)	criteria provided, single submitter
Select item 143429581.	NM_000432.4(MYL2):c.356T>A (p.Val119Asp) GRCh37: Chr12:111350946 GRCh38: Chr12:110913142	MYL2	V119D	Hypertrophic cardiomyopathy 10	Uncertain significance (Aug 10, 2021)	criteria provided, single submitter
Select item 141959882.	NM_000432.4(MYL2):c.218C>A (p.Ala73Asp) GRCh37: Chr12:111352046 GRCh38: Chr12:110914242	MYL2	A73D	Hypertrophic cardiomyopathy 10	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 140512083.	NM_000432.4(MYL2):c.172C>T (p.Arg58Ter) GRCh37: Chr12:111352092 GRCh38: Chr12:110914288	MYL2	R58*	Hypertrophic cardiomyopathy 10	Uncertain significance (Aug 29, 2021)	criteria provided, single submitter
Select item 140429684.	NM_000432.4(MYL2):c.92A>G (p.Glu31Gly) GRCh37: Chr12:111356909 GRCh38: Chr12:110919105	LOC114827850, MYL2	E31G	Hypertrophic cardiomyopathy 10	Uncertain significance (Oct 23, 2021)	criteria provided, single submitter
Select item 139644685.	NM_000432.4(MYL2):c.283C>T (p.Pro95Ser) GRCh37: Chr12:111351120 GRCh38: Chr12:110913316	MYL2	P95S	Hypertrophic cardiomyopathy 10	Uncertain significance (Sep 23, 2021)	criteria provided, single submitter
Select item 139029086.	NM_000432.4(MYL2):c.425T>C (p.Phe142Ser) GRCh37: Chr12:111348957 GRCh38: Chr12:110911153	MYL2	F142S	Hypertrophic cardiomyopathy 10	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 138954987.	NM_000432.4(MYL2):c.295A>G (p.Ile99Val) GRCh37: Chr12:111351108 GRCh38: Chr12:110913304	MYL2	I99V	Hypertrophic cardiomyopathy 10	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 138833888.	NM_000432.4(MYL2):c.400G>T (p.Glu134Ter) GRCh37: Chr12:111350902 GRCh38: Chr12:110913098	MYL2	E134*	Hypertrophic cardiomyopathy 10	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 138768889.	NM_000432.4(MYL2):c.486A>C (p.Gly162=) GRCh37: Chr12:111348896 GRCh38: Chr12:110911092	MYL2		Cardiovascular phenotype, Hypertrophic cardiomyopathy 10	Likely benign (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138725890.	NM_000432.4(MYL2):c.50T>C (p.Val17Ala) GRCh37: Chr12:111356951 GRCh38: Chr12:110919147	MYL2, LOC114827850	V17A	Hypertrophic cardiomyopathy 10, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, Hypertrophic cardiomyopathy 10	Uncertain significance (Oct 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 137444791.	NM_000432.4(MYL2):c.290A>T (p.Glu97Val) GRCh37: Chr12:111351113 GRCh38: Chr12:110913309	MYL2	E97V	Hypertrophic cardiomyopathy 10	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 136620592.	NM_000432.4(MYL2):c.325G>T (p.Glu109Ter) GRCh37: Chr12:111351078 GRCh38: Chr12:110913274	MYL2	E109*	Hypertrophic cardiomyopathy 10	Uncertain significance (Jul 6, 2021)	criteria provided, single submitter
Select item 136519693.	NM_000432.4(MYL2):c.274+4A>G GRCh37: Chr12:111351986 GRCh38: Chr12:110914182	MYL2		Hypertrophic cardiomyopathy 10	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 136065194.	NM_000432.4(MYL2):c.133G>A (p.Asp45Asn) GRCh37: Chr12:111353555 GRCh38: Chr12:110915751	MYL2	D45N	Hypertrophic cardiomyopathy 10	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 135936295.	NM_000432.4(MYL2):c.47del (p.Asn16fs) GRCh37: Chr12:111356954 GRCh38: Chr12:110919150	LOC114827850, MYL2	N16fs	Cardiovascular phenotype	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 135770496.	NM_000432.4(MYL2):c.3+13G>T GRCh37: Chr12:111358318 GRCh38: Chr12:110920514	LOC114827850, MYL2		Hypertrophic cardiomyopathy 10	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 135730597.	NM_000432.4(MYL2):c.26G>A (p.Arg9Lys) GRCh37: Chr12:111356975 GRCh38: Chr12:110919171	LOC114827850, MYL2	R9K	Hypertrophic cardiomyopathy 10	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 135291598.	NM_000432.4(MYL2):c.217G>T (p.Ala73Ser) GRCh37: Chr12:111352047 GRCh38: Chr12:110914243	MYL2	A73S	Hypertrophic cardiomyopathy 10	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 134721299.	NM_000432.4(MYL2):c.484G>T (p.Gly162Ter) GRCh37: Chr12:111348898 GRCh38: Chr12:110911094	MYL2	G162*	Hypertrophic cardiomyopathy 10	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter
Select item 1346413100.	NM_000432.4(MYL2):c.93+11C>G GRCh37: Chr12:111356897 GRCh38: Chr12:110919093	LOC114827850, MYL2		Hypertrophic cardiomyopathy 10	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter

<< First< Prev

Page of 4