ClinVar for MedGen (Select 450078) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248488	NC_000019.9:g.(?_16591405)_(16593616_?)del	CALR3	Deletion	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 3019007	NM_145046.5(CALR3):c.212A>G (p.Asn71Ser)	CALR3 (N71S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 3018700	NM_145046.5(CALR3):c.766C>T (p.Leu256Phe)	CALR3 (L256F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 3012994	NM_145046.5(CALR3):c.194-3A>G	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2981912	NM_145046.5(CALR3):c.91+15C>T	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2975311	NM_145046.5(CALR3):c.1013G>T (p.Gly338Val)	CALR3 (G338V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2969523	NM_145046.5(CALR3):c.193+15A>G	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2963679	NM_145046.5(CALR3):c.407T>C (p.Ile136Thr)	CALR3 (I136T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2919357	NM_145046.5(CALR3):c.813T>C (p.His271=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GBenign
Select item 2919208	NM_145046.5(CALR3):c.1011+16T>A	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2912904	NM_145046.5(CALR3):c.1A>G (p.Met1Val)	CALR3 (M1V)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2910029	NM_145046.5(CALR3):c.314G>C (p.Cys105Ser)	CALR3 (C105S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2906896	NM_145046.5(CALR3):c.770A>C (p.Gln257Pro)	CALR3 (Q257P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2902093	NM_145046.5(CALR3):c.142C>T (p.His48Tyr)	CALR3 (H48Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2898805	NM_145046.5(CALR3):c.248C>T (p.Pro83Leu)	CALR3 (P83L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2866221	NM_145046.5(CALR3):c.163A>G (p.Lys55Glu)	CALR3 (K55E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2820238	NM_145046.5(CALR3):c.398-15T>A	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2819601	NM_145046.5(CALR3):c.891T>C (p.Ile297=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2819597	NM_145046.5(CALR3):c.960T>C (p.Asp320=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2812787	NM_145046.5(CALR3):c.471C>T (p.Asn157=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2797027	NM_145046.5(CALR3):c.286A>G (p.Thr96Ala)	CALR3 (T96A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2784975	NM_145046.5(CALR3):c.538C>A (p.Leu180Ile)	CALR3 (L180I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2771166	NM_145046.5(CALR3):c.1129C>A (p.Gln377Lys)	CALR3 (Q377K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2766127	NM_145046.5(CALR3):c.601A>C (p.Asn201His)	CALR3 (N201H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2743836	NM_145046.5(CALR3):c.193+15_193+16del	CALR3	Deletion (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2742238	NM_145046.5(CALR3):c.39G>A (p.Met13Ile)	CALR3 (M13I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2734983	NM_145046.5(CALR3):c.217C>T (p.Arg73Ter)	CALR3 (R73*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2733170	NM_145046.5(CALR3):c.65A>G (p.Tyr22Cys)	CALR3 (Y22C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2731788	NM_145046.5(CALR3):c.676C>G (p.Gln226Glu)	CALR3 (Q226E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2730272	NM_145046.5(CALR3):c.6C>G (p.Ala2=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2728849	NM_145046.5(CALR3):c.852C>G (p.Asp284Glu)	CALR3 (D284E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2728251	NM_145046.5(CALR3):c.973G>A (p.Ala325Thr)	CALR3 (A325T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2728136	NM_145046.5(CALR3):c.293A>G (p.Lys98Arg)	CALR3 (K98R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2727546	NM_145046.5(CALR3):c.1114G>T (p.Glu372Ter)	CALR3 (E372*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2727129	NM_145046.5(CALR3):c.231del (p.Ser78fs)	CALR3 (S78fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2724046	NM_145046.5(CALR3):c.1068C>T (p.Arg356=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2699216	NM_145046.5(CALR3):c.194-14T>A	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2693793	NM_145046.5(CALR3):c.969G>A (p.Glu323=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2427326	NC_000019.9:g.(?_16606542)_(16606940_?)del	CALR3	Deletion	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2200536	NM_145046.5(CALR3):c.579C>T (p.Ser193=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2188727	NM_145046.5(CALR3):c.608C>T (p.Thr203Ile)	CALR3 (T203I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2187624	NM_145046.5(CALR3):c.1134T>A (p.Phe378Leu)	CALR3 (F378L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2185592	NM_145046.5(CALR3):c.1064C>T (p.Ala355Val)	CALR3 (A355V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2184630	NM_145046.5(CALR3):c.992C>T (p.Ala331Val)	CALR3 (A331V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2181550	NM_145046.5(CALR3):c.1043C>A (p.Ala348Asp)	CALR3 (A348D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2169185	NM_145046.5(CALR3):c.1058A>G (p.Lys353Arg)	CALR3 (K353R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2159934	NM_145046.5(CALR3):c.418G>T (p.Asp140Tyr)	CALR3 (D140Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2158587	NM_145046.5(CALR3):c.30C>T (p.Ala10=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2154837	NM_145046.5(CALR3):c.194-13A>G	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GBenign
Select item 2153289	NM_145046.5(CALR3):c.941A>G (p.Asp314Gly)	CALR3 (D314G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2149510	NM_145046.5(CALR3):c.860C>T (p.Thr287Met)	CALR3 (T287M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2148217	NM_145046.5(CALR3):c.779C>T (p.Pro260Leu)	CALR3 (P260L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19 +1 more	GUncertain significance
Select item 2142402	NM_145046.5(CALR3):c.397+13G>A	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2102247	NM_145046.5(CALR3):c.516C>T (p.Tyr172=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2098440	NM_145046.5(CALR3):c.604T>C (p.Leu202=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2088111	NM_145046.5(CALR3):c.1036A>G (p.Ile346Val)	CALR3 (I346V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2086596	NM_145046.5(CALR3):c.466G>C (p.Glu156Gln)	CALR3 (E156Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2082535	NM_145046.5(CALR3):c.238C>T (p.Arg80Cys)	CALR3 (R80C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2082200	NM_145046.5(CALR3):c.1011+11C>T	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2081057	NM_145046.5(CALR3):c.690G>A (p.Lys230=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2080464	NM_145046.5(CALR3):c.786+14_786+15del	CALR3	Deletion (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2076510	NM_145046.5(CALR3):c.1113C>T (p.His371=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2055773	NM_145046.5(CALR3):c.397+7T>A	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2053221	NM_145046.5(CALR3):c.743A>C (p.Asp248Ala)	CALR3 (D248A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2052375	NM_145046.5(CALR3):c.681C>A (p.Asp227Glu)	CALR3 (D227E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2048896	NM_145046.5(CALR3):c.623A>C (p.Glu208Ala)	CALR3 (E208A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2048636	NM_145046.5(CALR3):c.667A>G (p.Asn223Asp)	CALR3 (N223D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2046984	NM_145046.5(CALR3):c.1002C>T (p.Gly334=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1965087	NM_145046.5(CALR3):c.193+1del	CALR3	Deletion (splice donor variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1958259	NM_145046.5(CALR3):c.896C>T (p.Ala299Val)	CALR3 (A299V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1948948	NM_145046.5(CALR3):c.724G>C (p.Asp242His)	CALR3 (D242H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1940274	NM_145046.5(CALR3):c.398-20G>A	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1926454	NM_145046.5(CALR3):c.397+11G>A	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1903780	NM_145046.5(CALR3):c.587T>C (p.Ile196Thr)	CALR3 (I196T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1898275	NM_145046.5(CALR3):c.517A>G (p.Thr173Ala)	CALR3 (T173A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1719762	NM_145046.5(CALR3):c.674C>T (p.Ala225Val)	CALR3 (A225V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1658175	NM_145046.5(CALR3):c.493-15C>G	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1650886	NM_145046.5(CALR3):c.787-11T>G	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1629449	NM_145046.5(CALR3):c.627G>A (p.Thr209=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1605565	NM_145046.5(CALR3):c.387T>C (p.Tyr129=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1604563	NM_145046.5(CALR3):c.786+9C>A	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1603406	NM_145046.5(CALR3):c.777C>A (p.Pro259=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1602442	NM_145046.5(CALR3):c.786+18A>T	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1593092	NM_145046.5(CALR3):c.249G>A (p.Pro83=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1588823	NM_145046.5(CALR3):c.398-11C>A	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1586728	NM_145046.5(CALR3):c.1011+12G>T	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1586529	NM_145046.5(CALR3):c.918+16C>T	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1570591	NM_145046.5(CALR3):c.398-17G>C	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1569295	NM_145046.5(CALR3):c.1080G>A (p.Glu360=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1556893	NM_145046.5(CALR3):c.849C>T (p.Thr283=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1556217	NM_145046.5(CALR3):c.1095G>A (p.Ser365=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1550664	NM_145046.5(CALR3):c.398-9T>C	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1520968	NM_145046.5(CALR3):c.192dup (p.Gly65fs)	CALR3 (G65fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1520180	NM_145046.5(CALR3):c.309G>A (p.Met103Ile)	CALR3 (M103I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1519370	NM_145046.5(CALR3):c.466G>A (p.Glu156Lys)	CALR3 (E156K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1510882	NM_145046.5(CALR3):c.1067G>A (p.Arg356His)	CALR3 (R356H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1507053	NM_145046.5(CALR3):c.193+1G>A	CALR3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1505764	NM_145046.5(CALR3):c.277A>G (p.Ile93Val)	CALR3 (I93V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1486756	NM_145046.5(CALR3):c.445C>T (p.His149Tyr)	CALR3 (H149Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1481634	NM_145046.5(CALR3):c.728G>A (p.Trp243Ter)	CALR3 (W243*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 19	GUncertain significance

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