ClinVar for MedGen (Select 450078) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 209

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24273261.	NC_000019.9:g.(?_16606542)_(16606940_?)del GRCh37: Chr19:16606542-16606940	CALR3		Hypertrophic cardiomyopathy 19	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 22005362.	NM_145046.5(CALR3):c.579C>T (p.Ser193=) GRCh37: Chr19:16594840 GRCh38: Chr19:16484029	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 21887273.	NM_145046.5(CALR3):c.608C>T (p.Thr203Ile) GRCh37: Chr19:16594811 GRCh38: Chr19:16484000	CALR3	T203I	Hypertrophic cardiomyopathy 19	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 21876244.	NM_145046.5(CALR3):c.1134T>A (p.Phe378Leu) GRCh37: Chr19:16589963 GRCh38: Chr19:16479152	CALR3	F378L	Hypertrophic cardiomyopathy 19	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 21855925.	NM_145046.5(CALR3):c.1064C>T (p.Ala355Val) GRCh37: Chr19:16590033 GRCh38: Chr19:16479222	CALR3	A355V	Hypertrophic cardiomyopathy 19	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 21846306.	NM_145046.5(CALR3):c.992C>T (p.Ala331Val) GRCh37: Chr19:16591444 GRCh38: Chr19:16480633	CALR3	A331V	Hypertrophic cardiomyopathy 19, Inborn genetic diseases	Uncertain significance (Jun 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21815507.	NM_145046.5(CALR3):c.1043C>A (p.Ala348Asp) GRCh37: Chr19:16590054 GRCh38: Chr19:16479243	CALR3	A348D	Hypertrophic cardiomyopathy 19	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 21691858.	NM_145046.5(CALR3):c.1058A>G (p.Lys353Arg) GRCh37: Chr19:16590039 GRCh38: Chr19:16479228	CALR3	K353R	Hypertrophic cardiomyopathy 19	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 21599349.	NM_145046.5(CALR3):c.418G>T (p.Asp140Tyr) GRCh37: Chr19:16596048 GRCh38: Chr19:16485237	CALR3	D140Y	Hypertrophic cardiomyopathy 19	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 215858710.	NM_145046.5(CALR3):c.30C>T (p.Ala10=) GRCh37: Chr19:16606911 GRCh38: Chr19:16496100	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Feb 12, 2022)	criteria provided, single submitter
Select item 215483711.	NM_145046.5(CALR3):c.194-13A>G GRCh37: Chr19:16601394 GRCh38: Chr19:16490583	CALR3		Hypertrophic cardiomyopathy 19	Benign (Sep 14, 2022)	criteria provided, single submitter
Select item 215328912.	NM_145046.5(CALR3):c.941A>G (p.Asp314Gly) GRCh37: Chr19:16591495 GRCh38: Chr19:16480684	CALR3	D314G	Hypertrophic cardiomyopathy 19	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 214951013.	NM_145046.5(CALR3):c.860C>T (p.Thr287Met) GRCh37: Chr19:16593319 GRCh38: Chr19:16482508	CALR3	T287M	Hypertrophic cardiomyopathy 19	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 214821714.	NM_145046.5(CALR3):c.779C>T (p.Pro260Leu) GRCh37: Chr19:16593496 GRCh38: Chr19:16482685	CALR3	P260L	Hypertrophic cardiomyopathy 19	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 214240215.	NM_145046.5(CALR3):c.397+13G>A GRCh37: Chr19:16601165 GRCh38: Chr19:16490354	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 210224716.	NM_145046.5(CALR3):c.516C>T (p.Tyr172=) GRCh37: Chr19:16594903 GRCh38: Chr19:16484092	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 209844017.	NM_145046.5(CALR3):c.604T>C (p.Leu202=) GRCh37: Chr19:16594815 GRCh38: Chr19:16484004	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 208811118.	NM_145046.5(CALR3):c.1036A>G (p.Ile346Val) GRCh37: Chr19:16590061 GRCh38: Chr19:16479250	CALR3	I346V	Hypertrophic cardiomyopathy 19	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 208659619.	NM_145046.5(CALR3):c.466G>C (p.Glu156Gln) GRCh37: Chr19:16596000 GRCh38: Chr19:16485189	CALR3	E156Q	Hypertrophic cardiomyopathy 19	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 208253520.	NM_145046.5(CALR3):c.238C>T (p.Arg80Cys) GRCh37: Chr19:16601337 GRCh38: Chr19:16490526	CALR3	R80C	Hypertrophic cardiomyopathy 19	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 208220021.	NM_145046.5(CALR3):c.1011+11C>T GRCh37: Chr19:16591414 GRCh38: Chr19:16480603	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 208105722.	NM_145046.5(CALR3):c.690G>A (p.Lys230=) GRCh37: Chr19:16593585 GRCh38: Chr19:16482774	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 208046423.	NM_145046.5(CALR3):c.786+14_786+15del GRCh37: Chr19:16593474-16593475 GRCh38: Chr19:16482663-16482664	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 207651024.	NM_145046.5(CALR3):c.1113C>T (p.His371=) GRCh37: Chr19:16589984 GRCh38: Chr19:16479173	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Jan 22, 2022)	criteria provided, single submitter
Select item 205577325.	NM_145046.5(CALR3):c.397+7T>A GRCh37: Chr19:16601171 GRCh38: Chr19:16490360	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 205322126.	NM_145046.5(CALR3):c.743A>C (p.Asp248Ala) GRCh37: Chr19:16593532 GRCh38: Chr19:16482721	CALR3	D248A	Hypertrophic cardiomyopathy 19	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 205237527.	NM_145046.5(CALR3):c.681C>A (p.Asp227Glu) GRCh37: Chr19:16593594 GRCh38: Chr19:16482783	CALR3	D227E	Hypertrophic cardiomyopathy 19	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 204889628.	NM_145046.5(CALR3):c.623A>C (p.Glu208Ala) GRCh37: Chr19:16594796 GRCh38: Chr19:16483985	CALR3	E208A	Hypertrophic cardiomyopathy 19	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 204863629.	NM_145046.5(CALR3):c.667A>G (p.Asn223Asp) GRCh37: Chr19:16594752 GRCh38: Chr19:16483941	CALR3	N223D	Hypertrophic cardiomyopathy 19	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 204698430.	NM_145046.5(CALR3):c.1002C>T (p.Gly334=) GRCh37: Chr19:16591434 GRCh38: Chr19:16480623	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 196508731.	NM_145046.5(CALR3):c.193+1del GRCh37: Chr19:16606561 GRCh38: Chr19:16495750	CALR3		Hypertrophic cardiomyopathy 19	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 195825932.	NM_145046.5(CALR3):c.896C>T (p.Ala299Val) GRCh37: Chr19:16593283 GRCh38: Chr19:16482472	CALR3	A299V	Hypertrophic cardiomyopathy 19	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 194894833.	NM_145046.5(CALR3):c.724G>C (p.Asp242His) GRCh37: Chr19:16593551 GRCh38: Chr19:16482740	CALR3	D242H	Hypertrophic cardiomyopathy 19	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 194027434.	NM_145046.5(CALR3):c.398-20G>A GRCh37: Chr19:16596088 GRCh38: Chr19:16485277	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 192645435.	NM_145046.5(CALR3):c.397+11G>A GRCh37: Chr19:16601167 GRCh38: Chr19:16490356	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Sep 11, 2022)	criteria provided, single submitter
Select item 190378036.	NM_145046.5(CALR3):c.587T>C (p.Ile196Thr) GRCh37: Chr19:16594832 GRCh38: Chr19:16484021	CALR3	I196T	Hypertrophic cardiomyopathy 19	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 189827537.	NM_145046.5(CALR3):c.517A>G (p.Thr173Ala) GRCh37: Chr19:16594902 GRCh38: Chr19:16484091	CALR3	T173A	Hypertrophic cardiomyopathy 19	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 171976238.	NM_145046.5(CALR3):c.674C>T (p.Ala225Val) GRCh37: Chr19:16594745 GRCh38: Chr19:16483934	CALR3	A225V	Hypertrophic cardiomyopathy 19	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 165817539.	NM_145046.5(CALR3):c.493-15C>G GRCh37: Chr19:16594941 GRCh38: Chr19:16484130	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 165088640.	NM_145046.5(CALR3):c.787-11T>G GRCh37: Chr19:16593403 GRCh38: Chr19:16482592	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 162944941.	NM_145046.5(CALR3):c.627G>A (p.Thr209=) GRCh37: Chr19:16594792 GRCh38: Chr19:16483981	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 160556542.	NM_145046.5(CALR3):c.387T>C (p.Tyr129=) GRCh37: Chr19:16601188 GRCh38: Chr19:16490377	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Sep 18, 2021)	criteria provided, single submitter
Select item 160456343.	NM_145046.5(CALR3):c.786+9C>A GRCh37: Chr19:16593480 GRCh38: Chr19:16482669	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Sep 15, 2021)	criteria provided, single submitter
Select item 160340644.	NM_145046.5(CALR3):c.777C>A (p.Pro259=) GRCh37: Chr19:16593498 GRCh38: Chr19:16482687	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 160244245.	NM_145046.5(CALR3):c.786+18A>T GRCh37: Chr19:16593471 GRCh38: Chr19:16482660	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 159309246.	NM_145046.5(CALR3):c.249G>A (p.Pro83=) GRCh37: Chr19:16601326 GRCh38: Chr19:16490515	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 158882347.	NM_145046.5(CALR3):c.398-11C>A GRCh37: Chr19:16596079 GRCh38: Chr19:16485268	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 158672848.	NM_145046.5(CALR3):c.1011+12G>T GRCh37: Chr19:16591413 GRCh38: Chr19:16480602	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 158652949.	NM_145046.5(CALR3):c.918+16C>T GRCh37: Chr19:16593245 GRCh38: Chr19:16482434	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 157059150.	NM_145046.5(CALR3):c.398-17G>C GRCh37: Chr19:16596085 GRCh38: Chr19:16485274	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 156929551.	NM_145046.5(CALR3):c.1080G>A (p.Glu360=) GRCh37: Chr19:16590017 GRCh38: Chr19:16479206	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Aug 1, 2021)	criteria provided, single submitter
Select item 155689352.	NM_145046.5(CALR3):c.849C>T (p.Thr283=) GRCh37: Chr19:16593330 GRCh38: Chr19:16482519	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 155621753.	NM_145046.5(CALR3):c.1095G>A (p.Ser365=) GRCh37: Chr19:16590002 GRCh38: Chr19:16479191	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 155066454.	NM_145046.5(CALR3):c.398-9T>C GRCh37: Chr19:16596077 GRCh38: Chr19:16485266	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Jun 12, 2021)	criteria provided, single submitter
Select item 152096855.	NM_145046.5(CALR3):c.192dup (p.Gly65fs) GRCh37: Chr19:16606562-16606563 GRCh38: Chr19:16495751-16495752	CALR3	G65fs	Hypertrophic cardiomyopathy 19	Uncertain significance (Mar 28, 2021)	criteria provided, single submitter
Select item 152018056.	NM_145046.5(CALR3):c.309G>A (p.Met103Ile) GRCh37: Chr19:16601266 GRCh38: Chr19:16490455	CALR3	M103I	Hypertrophic cardiomyopathy 19	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 151937057.	NM_145046.5(CALR3):c.466G>A (p.Glu156Lys) GRCh37: Chr19:16596000 GRCh38: Chr19:16485189	CALR3	E156K	Hypertrophic cardiomyopathy 19	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 151088258.	NM_145046.5(CALR3):c.1067G>A (p.Arg356His) GRCh37: Chr19:16590030 GRCh38: Chr19:16479219	CALR3	R356H	Hypertrophic cardiomyopathy 19	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 150705359.	NM_145046.5(CALR3):c.193+1G>A GRCh37: Chr19:16606561 GRCh38: Chr19:16495750	CALR3		Hypertrophic cardiomyopathy 19	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 150576460.	NM_145046.5(CALR3):c.277A>G (p.Ile93Val) GRCh37: Chr19:16601298 GRCh38: Chr19:16490487	CALR3	I93V	Hypertrophic cardiomyopathy 19	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 148675661.	NM_145046.5(CALR3):c.445C>T (p.His149Tyr) GRCh37: Chr19:16596021 GRCh38: Chr19:16485210	CALR3	H149Y	Hypertrophic cardiomyopathy 19	Uncertain significance (Oct 27, 2021)	criteria provided, single submitter
Select item 148163462.	NM_145046.5(CALR3):c.728G>A (p.Trp243Ter) GRCh37: Chr19:16593547 GRCh38: Chr19:16482736	CALR3	W243*	Hypertrophic cardiomyopathy 19	Uncertain significance (Jul 16, 2021)	criteria provided, single submitter
Select item 148115363.	NM_145046.5(CALR3):c.786+3G>T GRCh37: Chr19:16593486 GRCh38: Chr19:16482675	CALR3		Hypertrophic cardiomyopathy 19	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 148041764.	NM_145046.5(CALR3):c.962A>G (p.Asp321Gly) GRCh37: Chr19:16591474 GRCh38: Chr19:16480663	CALR3	D321G	Hypertrophic cardiomyopathy 19	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 146886965.	NM_145046.5(CALR3):c.113T>G (p.Leu38Trp) GRCh37: Chr19:16606642 GRCh38: Chr19:16495831	CALR3	L38W	Hypertrophic cardiomyopathy 19, Inborn genetic diseases	Uncertain significance (Oct 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 146653366.	NM_145046.5(CALR3):c.723C>A (p.Ser241Arg) GRCh37: Chr19:16593552 GRCh38: Chr19:16482741	CALR3	S241R	Hypertrophic cardiomyopathy 19	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 146588367.	NM_145046.5(CALR3):c.421A>G (p.Ile141Val) GRCh37: Chr19:16596045 GRCh38: Chr19:16485234	CALR3	I141V	Hypertrophic cardiomyopathy 19	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 146479168.	NM_145046.5(CALR3):c.274G>A (p.Val92Ile) GRCh37: Chr19:16601301 GRCh38: Chr19:16490490	CALR3	V92I	Hypertrophic cardiomyopathy 19	Uncertain significance (Sep 15, 2021)	criteria provided, single submitter
Select item 144955569.	NM_145046.5(CALR3):c.34T>G (p.Cys12Gly) GRCh37: Chr19:16606907 GRCh38: Chr19:16496096	CALR3	C12G	Hypertrophic cardiomyopathy 19	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 144921270.	NM_145046.5(CALR3):c.158C>T (p.Ser53Leu) GRCh37: Chr19:16606597 GRCh38: Chr19:16495786	CALR3	S53L	Hypertrophic cardiomyopathy 19	Uncertain significance (Aug 7, 2021)	criteria provided, single submitter
Select item 144521671.	NM_145046.5(CALR3):c.298G>A (p.Glu100Lys) GRCh37: Chr19:16601277 GRCh38: Chr19:16490466	CALR3	E100K	Hypertrophic cardiomyopathy 19	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 144045972.	NM_145046.5(CALR3):c.226G>A (p.Ala76Thr) GRCh37: Chr19:16601349 GRCh38: Chr19:16490538	CALR3	A76T	Hypertrophic cardiomyopathy 19	Uncertain significance (Jul 27, 2021)	criteria provided, single submitter
Select item 142163373.	NM_145046.5(CALR3):c.923G>T (p.Arg308Ile) GRCh37: Chr19:16591513 GRCh38: Chr19:16480702	CALR3	R308I	Hypertrophic cardiomyopathy 19	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 141599274.	NM_145046.5(CALR3):c.-13_5del (p.Met1_Ala2del) GRCh37: Chr19:16606936-16606953 GRCh38: Chr19:16496125-16496142	CALR3		Hypertrophic cardiomyopathy 19	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 141476375.	NM_145046.5(CALR3):c.602A>G (p.Asn201Ser) GRCh37: Chr19:16594817 GRCh38: Chr19:16484006	CALR3	N201S	Hypertrophic cardiomyopathy 19	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 141276176.	NC_000019.9:g.(?_16593241)_(16606940_?)dup GRCh37: Chr19:16593241-16606940	CALR3		Hypertrophic cardiomyopathy 19	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 141276077.	NC_000019.9:g.(?_16601158)_(16601401_?)dup GRCh37: Chr19:16601158-16601401	CALR3		Hypertrophic cardiomyopathy 19	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 140417478.	NM_145046.5(CALR3):c.703G>A (p.Ala235Thr) GRCh37: Chr19:16593572 GRCh38: Chr19:16482761	CALR3	A235T	Hypertrophic cardiomyopathy 19	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 140344479.	NM_145046.5(CALR3):c.500G>A (p.Gly167Asp) GRCh37: Chr19:16594919 GRCh38: Chr19:16484108	CALR3	G167D	Hypertrophic cardiomyopathy 19	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 140086480.	NM_145046.5(CALR3):c.545A>G (p.Tyr182Cys) GRCh37: Chr19:16594874 GRCh38: Chr19:16484063	CALR3	Y182C	Hypertrophic cardiomyopathy 19	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 139607881.	NM_145046.5(CALR3):c.139G>C (p.Gly47Arg) GRCh37: Chr19:16606616 GRCh38: Chr19:16495805	CALR3	G47R	Hypertrophic cardiomyopathy 19	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 139352482.	NM_145046.5(CALR3):c.520_527del (p.Leu174fs) GRCh37: Chr19:16594892-16594899 GRCh38: Chr19:16484081-16484088	CALR3	L174fs	Hypertrophic cardiomyopathy 19	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 139060383.	NM_145046.5(CALR3):c.97T>C (p.Trp33Arg) GRCh37: Chr19:16606658 GRCh38: Chr19:16495847	CALR3	W33R	Hypertrophic cardiomyopathy 19	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 138611984.	NM_145046.5(CALR3):c.923G>A (p.Arg308Lys) GRCh37: Chr19:16591513 GRCh38: Chr19:16480702	CALR3	R308K	Hypertrophic cardiomyopathy 19	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 137783185.	NM_145046.5(CALR3):c.535G>T (p.Asp179Tyr) GRCh37: Chr19:16594884 GRCh38: Chr19:16484073	CALR3	D179Y	Hypertrophic cardiomyopathy 19	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 137706086.	NM_145046.5(CALR3):c.384C>G (p.Tyr128Ter) GRCh37: Chr19:16601191 GRCh38: Chr19:16490380	CALR3	Y128*	Hypertrophic cardiomyopathy 19	Uncertain significance (Aug 23, 2021)	criteria provided, single submitter
Select item 137463887.	NM_145046.5(CALR3):c.224A>T (p.Tyr75Phe) GRCh37: Chr19:16601351 GRCh38: Chr19:16490540	CALR3	Y75F	Hypertrophic cardiomyopathy 19	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 136700888.	NM_145046.5(CALR3):c.632C>T (p.Pro211Leu) GRCh37: Chr19:16594787 GRCh38: Chr19:16483976	CALR3	P211L	Hypertrophic cardiomyopathy 19	Uncertain significance (Oct 19, 2021)	criteria provided, single submitter
Select item 117053689.	NM_145046.5(CALR3):c.787-14dup GRCh37: Chr19:16593399-16593400 GRCh38: Chr19:16482588-16482589	CALR3		Hypertrophic cardiomyopathy 19	Benign (Jul 8, 2019)	criteria provided, single submitter
Select item 116905690.	NM_145046.5(CALR3):c.398-4G>A GRCh37: Chr19:16596072 GRCh38: Chr19:16485261	CALR3		Hypertrophic cardiomyopathy 19	Benign (Jul 19, 2022)	criteria provided, single submitter
Select item 116122591.	NM_145046.5(CALR3):c.273G>A (p.Leu91=) GRCh37: Chr19:16601302 GRCh38: Chr19:16490491	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 115455292.	NM_145046.5(CALR3):c.271C>T (p.Leu91=) GRCh37: Chr19:16601304 GRCh38: Chr19:16490493	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Aug 14, 2020)	criteria provided, single submitter
Select item 115359493.	NM_145046.5(CALR3):c.816A>G (p.Lys272=) GRCh37: Chr19:16593363 GRCh38: Chr19:16482552	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 115253294.	NM_145046.5(CALR3):c.648T>C (p.Asp216=) GRCh37: Chr19:16594771 GRCh38: Chr19:16483960	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 115252295.	NM_145046.5(CALR3):c.1095G>C (p.Ser365=) GRCh37: Chr19:16590002 GRCh38: Chr19:16479191	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Apr 10, 2019)	criteria provided, single submitter
Select item 115136196.	NM_145046.5(CALR3):c.761C>T (p.Pro254Leu) GRCh37: Chr19:16593514 GRCh38: Chr19:16482703	CALR3	P254L	Hypertrophic cardiomyopathy 19	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 114901197.	NM_145046.5(CALR3):c.345A>G (p.Ala115=) GRCh37: Chr19:16601230 GRCh38: Chr19:16490419	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Feb 24, 2020)	criteria provided, single submitter
Select item 114430298.	NM_145046.5(CALR3):c.156G>A (p.Ser52=) GRCh37: Chr19:16606599 GRCh38: Chr19:16495788	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 114223799.	NM_145046.5(CALR3):c.378G>A (p.Ser126=) GRCh37: Chr19:16601197 GRCh38: Chr19:16490386	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 1141144100.	NM_145046.5(CALR3):c.1152T>G (p.Leu384=) GRCh37: Chr19:16589945 GRCh38: Chr19:16479134	CALR3		Hypertrophic cardiomyopathy 19	Likely benign (Jun 21, 2020)	criteria provided, single submitter

<< First< Prev

Page of 3