ClinVar for MedGen (Select 895360) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24247201.	NC_000017.10:g.(?_37821613)_(38458253_?)dup GRCh37: Chr17:37821613-38458253	CASC3, GSDMB, WIPF2, PNMT, CDC6, TCAP, PSMD3, THRA, LRRC3C, MSL1, ERBB2, RAPGEFL1, NR1D1, GSDMA, IKZF3, CSF3, ORMDL3, MED24, GRB7, MIEN1, ZPBP2, PGAP3		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 22026672.	NM_003673.4(TCAP):c.50G>A (p.Arg17His) GRCh37: Chr17:37821662 GRCh38: Chr17:39665409	TCAP	R17H	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 21990813.	NM_003673.4(TCAP):c.105G>A (p.Glu35=) GRCh37: Chr17:37821717 GRCh38: Chr17:39665464	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 21962974.	NM_003673.4(TCAP):c.134C>T (p.Thr45Ile) GRCh37: Chr17:37821992 GRCh38: Chr17:39665739	TCAP	T45I	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 21870225.	NM_003673.4(TCAP):c.111-15C>T GRCh37: Chr17:37821954 GRCh38: Chr17:39665701	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 21783906.	NM_003673.4(TCAP):c.178C>G (p.Leu60Val) GRCh37: Chr17:37822036 GRCh38: Chr17:39665783	TCAP	L60V	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 21775877.	NM_003673.4(TCAP):c.464C>G (p.Ser155Cys) GRCh37: Chr17:37822322 GRCh38: Chr17:39666069	TCAP	S155C	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 21576658.	NM_003673.4(TCAP):c.325A>G (p.Thr109Ala) GRCh37: Chr17:37822183 GRCh38: Chr17:39665930	TCAP	T109A	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 21562169.	NM_003673.4(TCAP):c.111-14T>A GRCh37: Chr17:37821955 GRCh38: Chr17:39665702	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 214600410.	NM_003673.4(TCAP):c.34_48dup (p.Glu16_Arg17insGluGluAsnCysGlu) GRCh37: Chr17:37821644-37821645 GRCh38: Chr17:39665391-39665392	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 213533211.	NM_003673.4(TCAP):c.448G>C (p.Gly150Arg) GRCh37: Chr17:37822306 GRCh38: Chr17:39666053	TCAP	G150R	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 211328212.	NM_003673.4(TCAP):c.428T>G (p.Val143Gly) GRCh37: Chr17:37822286 GRCh38: Chr17:39666033	TCAP	V143G	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 209814813.	NM_003673.4(TCAP):c.218T>C (p.Ile73Thr) GRCh37: Chr17:37822076 GRCh38: Chr17:39665823	TCAP	I73T	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 209012614.	NM_003673.4(TCAP):c.151_154del (p.Tyr51fs) GRCh37: Chr17:37822006-37822009 GRCh38: Chr17:39665753-39665756	TCAP	Y51fs	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 206542915.	NM_003673.4(TCAP):c.45_46del (p.Cys15_Glu16delinsTer) GRCh37: Chr17:37821655-37821656 GRCh38: Chr17:39665402-39665403	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 204015416.	NM_003673.4(TCAP):c.408_410delinsA (p.Thr137fs) GRCh37: Chr17:37822266-37822268 GRCh38: Chr17:39666013-39666015	TCAP	T137fs	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 5, 2022)	criteria provided, single submitter
Select item 203622417.	NM_003673.4(TCAP):c.111C>G (p.Gly37=) GRCh37: Chr17:37821969 GRCh38: Chr17:39665716	TCAP		Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 203356118.	NM_003673.4(TCAP):c.425del (p.Pro142fs) GRCh37: Chr17:37822279 GRCh38: Chr17:39666026	TCAP	P142fs	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 202337619.	NM_003673.4(TCAP):c.110+2T>C GRCh37: Chr17:37821724 GRCh38: Chr17:39665471	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 201178820.	NM_003673.4(TCAP):c.130G>A (p.Asp44Asn) GRCh37: Chr17:37821988 GRCh38: Chr17:39665735	TCAP	D44N	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 201175921.	NM_003673.4(TCAP):c.110+6T>G GRCh37: Chr17:37821728 GRCh38: Chr17:39665475	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 199787822.	NM_003673.4(TCAP):c.110+15G>T GRCh37: Chr17:37821737 GRCh38: Chr17:39665484	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 195903823.	NM_003673.4(TCAP):c.110+13C>A GRCh37: Chr17:37821735 GRCh38: Chr17:39665482	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 193206324.	NM_003673.4(TCAP):c.277A>G (p.Ile93Val) GRCh37: Chr17:37822135 GRCh38: Chr17:39665882	TCAP	I93V	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 176281825.	NM_003673.4(TCAP):c.82C>T (p.Leu28=) GRCh37: Chr17:37821694 GRCh38: Chr17:39665441	TCAP		Cardiovascular phenotype, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174252026.	NM_003673.4(TCAP):c.469T>A (p.Ser157Thr) GRCh37: Chr17:37822327 GRCh38: Chr17:39666074	TCAP	S157T	Cardiovascular phenotype, Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G	Uncertain significance (Jun 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 172220127.	NM_003673.4(TCAP):c.479T>C (p.Met160Thr) GRCh37: Chr17:37822337 GRCh38: Chr17:39666084	TCAP	M160T	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 171929428.	NM_003673.4(TCAP):c.500G>C (p.Gly167Ala) GRCh37: Chr17:37822358 GRCh38: Chr17:39666105	TCAP	G167A	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 170803829.	NM_003673.4(TCAP):c.360_361del (p.Glu120fs) GRCh37: Chr17:37822216-37822217 GRCh38: Chr17:39665963-39665964	TCAP	E120fs	Hypertrophic cardiomyopathy 25	Likely pathogenic (Sep 27, 2022)	no assertion criteria provided
Select item 166107530.	NM_003673.4(TCAP):c.111-16C>T GRCh37: Chr17:37821953 GRCh38: Chr17:39665700	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 162808731.	NM_003673.4(TCAP):c.426T>G (p.Pro142=) GRCh37: Chr17:37822284 GRCh38: Chr17:39666031	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Aug 30, 2021)	criteria provided, single submitter
Select item 162157232.	NM_003673.4(TCAP):c.381T>C (p.Cys127=) GRCh37: Chr17:37822239 GRCh38: Chr17:39665986	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Dec 16, 2020)	criteria provided, single submitter
Select item 161601233.	NM_003673.4(TCAP):c.420G>T (p.Leu140=) GRCh37: Chr17:37822278 GRCh38: Chr17:39666025	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Nov 8, 2021)	criteria provided, single submitter
Select item 159731434.	NM_003673.4(TCAP):c.87A>C (p.Thr29=) GRCh37: Chr17:37821699 GRCh38: Chr17:39665446	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Mar 23, 2021)	criteria provided, single submitter
Select item 158550635.	NM_003673.4(TCAP):c.117C>T (p.Ser39=) GRCh37: Chr17:37821975 GRCh38: Chr17:39665722	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Aug 19, 2021)	criteria provided, single submitter
Select item 156279136.	NM_003673.4(TCAP):c.36G>A (p.Glu12=) GRCh37: Chr17:37821648 GRCh38: Chr17:39665395	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 155561137.	NM_003673.4(TCAP):c.354G>T (p.Ala118=) GRCh37: Chr17:37822212 GRCh38: Chr17:39665959	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Nov 8, 2021)	criteria provided, single submitter
Select item 155068838.	NM_003673.4(TCAP):c.110+18A>G GRCh37: Chr17:37821740 GRCh38: Chr17:39665487	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Apr 13, 2021)	criteria provided, single submitter
Select item 153881339.	NM_003673.4(TCAP):c.390C>G (p.Arg130=) GRCh37: Chr17:37822248 GRCh38: Chr17:39665995	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Aug 23, 2021)	criteria provided, single submitter
Select item 153865240.	NM_003673.4(TCAP):c.276C>T (p.Pro92=) GRCh37: Chr17:37822134 GRCh38: Chr17:39665881	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Mar 31, 2021)	criteria provided, single submitter
Select item 152236041.	NM_003673.4(TCAP):c.110+16C>G GRCh37: Chr17:37821738 GRCh38: Chr17:39665485	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 152132842.	NM_003673.4(TCAP):c.425_426del (p.Pro142fs) GRCh37: Chr17:37822283-37822284 GRCh38: Chr17:39666030-39666031	TCAP	P142fs	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 150734743.	NM_003673.4(TCAP):c.406A>C (p.Ile136Leu) GRCh37: Chr17:37822264 GRCh38: Chr17:39666011	TCAP	I136L	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Nov 2, 2021)	criteria provided, single submitter
Select item 150524844.	NM_003673.4(TCAP):c.479_494del (p.Met160fs) GRCh37: Chr17:37822335-37822350 GRCh38: Chr17:39666082-39666097	TCAP	M160fs	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 150126745.	NM_003673.4(TCAP):c.415C>T (p.Gln139Ter) GRCh37: Chr17:37822273 GRCh38: Chr17:39666020	TCAP	Q139*	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 150033046.	NM_003673.4(TCAP):c.37G>A (p.Glu13Lys) GRCh37: Chr17:37821649 GRCh38: Chr17:39665396	TCAP	E13K	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149954147.	NM_003673.4(TCAP):c.407T>A (p.Ile136Asn) GRCh37: Chr17:37822265 GRCh38: Chr17:39666012	TCAP	I136N	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 148025448.	NM_003673.4(TCAP):c.275C>A (p.Pro92His) GRCh37: Chr17:37822133 GRCh38: Chr17:39665880	TCAP	P92H	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 147203449.	NM_003673.4(TCAP):c.269C>A (p.Pro90Gln) GRCh37: Chr17:37822127 GRCh38: Chr17:39665874	TCAP	P90Q	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 145921350.	NM_003673.4(TCAP):c.34del (p.Glu12fs) GRCh37: Chr17:37821645 GRCh38: Chr17:39665392	TCAP	E12fs	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Pathogenic (Sep 9, 2022)	criteria provided, single submitter
Select item 144127751.	NM_003673.4(TCAP):c.387C>G (p.Asp129Glu) GRCh37: Chr17:37822245 GRCh38: Chr17:39665992	TCAP	D129E	Cardiovascular phenotype, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 144102152.	NM_003673.4(TCAP):c.422C>T (p.Pro141Leu) GRCh37: Chr17:37822280 GRCh38: Chr17:39666027	TCAP	P141L	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 143655753.	NM_003673.4(TCAP):c.22T>C (p.Cys8Arg) GRCh37: Chr17:37821634 GRCh38: Chr17:39665381	TCAP	C8R	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 143445354.	NM_003673.4(TCAP):c.330del (p.Ile111fs) GRCh37: Chr17:37822184 GRCh38: Chr17:39665931	TCAP	I111fs	Cardiovascular phenotype, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143360855.	NM_003673.4(TCAP):c.496A>G (p.Arg166Gly) GRCh37: Chr17:37822354 GRCh38: Chr17:39666101	TCAP	R166G	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 141746856.	NM_003673.4(TCAP):c.310GAG[1] (p.Glu105del) GRCh37: Chr17:37822166-37822168 GRCh38: Chr17:39665913-39665915	TCAP	E105del	Cardiovascular phenotype, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140624957.	NM_003673.4(TCAP):c.239A>G (p.Glu80Gly) GRCh37: Chr17:37822097 GRCh38: Chr17:39665844	TCAP	E80G	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 139923658.	NM_003673.4(TCAP):c.446C>G (p.Pro149Arg) GRCh37: Chr17:37822304 GRCh38: Chr17:39666051	TCAP	P149R	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Aug 9, 2021)	criteria provided, single submitter
Select item 138247559.	NM_003673.4(TCAP):c.166C>T (p.Gln56Ter) GRCh37: Chr17:37822024 GRCh38: Chr17:39665771	TCAP	Q56*	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Pathogenic (Nov 12, 2021)	criteria provided, single submitter
Select item 137946460.	NM_003673.4(TCAP):c.202ATG[1] (p.Met69del) GRCh37: Chr17:37822058-37822060 GRCh38: Chr17:39665805-39665807	TCAP	M69del	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 137667661.	NM_003673.4(TCAP):c.424C>A (p.Pro142Thr) GRCh37: Chr17:37822282 GRCh38: Chr17:39666029	TCAP	P142T	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 137079762.	NM_003673.4(TCAP):c.98G>T (p.Arg33Leu) GRCh37: Chr17:37821710 GRCh38: Chr17:39665457	TCAP	R33L	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 135317863.	NM_003673.4(TCAP):c.46G>A (p.Glu16Lys) GRCh37: Chr17:37821658 GRCh38: Chr17:39665405	TCAP	E16K	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 135076064.	NM_003673.4(TCAP):c.450dup (p.Ala151fs) GRCh37: Chr17:37822307-37822308 GRCh38: Chr17:39666054-39666055	TCAP	A151fs	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 121234165.	NM_003673.4(TCAP):c.202A>G (p.Met68Val) GRCh37: Chr17:37822060 GRCh38: Chr17:39665807	TCAP	M68V	not provided, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117800766.	NM_003673.4(TCAP):c.186G>A (p.Gln62=) GRCh37: Chr17:37822044 GRCh38: Chr17:39665791	TCAP		Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, not provided	Likely benign (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 117490467.	NM_003673.4(TCAP):c.111-16C>G GRCh37: Chr17:37821953 GRCh38: Chr17:39665700	TCAP		not provided, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115558468.	NM_003673.4(TCAP):c.402T>G (p.Ala134=) GRCh37: Chr17:37822260 GRCh38: Chr17:39666007	TCAP		Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 114225869.	NM_003673.4(TCAP):c.87A>G (p.Thr29=) GRCh37: Chr17:37821699 GRCh38: Chr17:39665446	TCAP		Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Cardiovascular phenotype	Likely benign (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113623070.	NM_003673.4(TCAP):c.33G>T (p.Ser11=) GRCh37: Chr17:37821645 GRCh38: Chr17:39665392	TCAP		Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Likely benign (Jan 22, 2021)	criteria provided, single submitter
Select item 112955971.	NM_003673.4(TCAP):c.102C>G (p.Pro34=) GRCh37: Chr17:37821714 GRCh38: Chr17:39665461	TCAP		Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Likely benign (May 27, 2019)	criteria provided, single submitter
Select item 112951672.	NM_003673.4(TCAP):c.178C>T (p.Leu60=) GRCh37: Chr17:37822036 GRCh38: Chr17:39665783	TCAP		Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Likely benign (May 4, 2020)	criteria provided, single submitter
Select item 112029473.	NM_003673.4(TCAP):c.354G>A (p.Ala118=) GRCh37: Chr17:37822212 GRCh38: Chr17:39665959	TCAP		Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Likely benign (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110793374.	NM_003673.4(TCAP):c.240G>A (p.Glu80=) GRCh37: Chr17:37822098 GRCh38: Chr17:39665845	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Mar 31, 2020)	criteria provided, single submitter
Select item 109674875.	NM_003673.4(TCAP):c.387C>T (p.Asp129=) GRCh37: Chr17:37822245 GRCh38: Chr17:39665992	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Jul 17, 2019)	criteria provided, single submitter
Select item 107847876.	NM_003673.4(TCAP):c.330C>A (p.Pro110=) GRCh37: Chr17:37822188 GRCh38: Chr17:39665935	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Sep 5, 2021)	criteria provided, single submitter
Select item 107825477.	NM_003673.4(TCAP):c.208C>A (p.Arg70=) GRCh37: Chr17:37822066 GRCh38: Chr17:39665813	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Nov 15, 2020)	criteria provided, single submitter
Select item 106643278.	NM_003673.4(TCAP):c.171C>A (p.Cys57Ter) GRCh37: Chr17:37822029 GRCh38: Chr17:39665776	TCAP	C57*	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 105552679.	NM_003673.4(TCAP):c.110+5G>A GRCh37: Chr17:37821727 GRCh38: Chr17:39665474	TCAP		Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 104693380.	NC_000017.10:g.(?_37821603)_(37822372_?)dup GRCh37: Chr17:37821603-37822372	TCAP		Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Mar 14, 2020)	criteria provided, single submitter
Select item 104601781.	NM_003673.4(TCAP):c.504AG[1] (p.Ter168=) GRCh37: Chr17:37822361-37822362 GRCh38: Chr17:39666108-39666109	TCAP		Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Sep 9, 2021)	criteria provided, single submitter
Select item 103698682.	NM_003673.4(TCAP):c.294_295delinsAG (p.Met99Val) GRCh37: Chr17:37822152-37822153 GRCh38: Chr17:39665899-39665900	TCAP	M99V	Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102693983.	NM_003673.4(TCAP):c.478A>G (p.Met160Val) GRCh37: Chr17:37822336 GRCh38: Chr17:39666083	TCAP	M160V	Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102309384.	NM_003673.4(TCAP):c.194C>T (p.Pro65Leu) GRCh37: Chr17:37822052 GRCh38: Chr17:39665799	TCAP	P65L	Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102273685.	NM_003673.4(TCAP):c.23G>T (p.Cys8Phe) GRCh37: Chr17:37821635 GRCh38: Chr17:39665382	TCAP	C8F	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 101993686.	NM_003673.4(TCAP):c.331A>C (p.Ile111Leu) GRCh37: Chr17:37822189 GRCh38: Chr17:39665936	TCAP	I111L	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 101934587.	NM_003673.4(TCAP):c.457C>A (p.Arg153Ser) GRCh37: Chr17:37822315 GRCh38: Chr17:39666062	TCAP	R153S	Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101478788.	NM_003673.4(TCAP):c.58G>T (p.Ala20Ser) GRCh37: Chr17:37821670 GRCh38: Chr17:39665417	TCAP	A20S	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 100813689.	NM_003673.4(TCAP):c.278T>C (p.Ile93Thr) GRCh37: Chr17:37822136 GRCh38: Chr17:39665883	TCAP	I93T	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 100475390.	NM_003673.4(TCAP):c.473G>T (p.Arg158Leu) GRCh37: Chr17:37822331 GRCh38: Chr17:39666078	TCAP	R158L	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 100358191.	NM_003673.4(TCAP):c.110+10G>A GRCh37: Chr17:37821732 GRCh38: Chr17:39665479	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 100335492.	NM_003673.4(TCAP):c.445C>G (p.Pro149Ala) GRCh37: Chr17:37822303 GRCh38: Chr17:39666050	TCAP	P149A	Cardiovascular phenotype, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99530593.	NM_003673.4(TCAP):c.54G>C (p.Arg18=) GRCh37: Chr17:37821666 GRCh38: Chr17:39665413	TCAP		Cardiovascular phenotype, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, not provided	Likely benign (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97238694.	NM_003673.4(TCAP):c.137A>G (p.Gln46Arg) GRCh37: Chr17:37821995 GRCh38: Chr17:39665742	TCAP	Q46R	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 96658195.	NM_003673.4(TCAP):c.441C>T (p.Ser147=) GRCh37: Chr17:37822299 GRCh38: Chr17:39666046	TCAP		Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 95523196.	NM_003673.4(TCAP):c.476C>G (p.Ser159Cys) GRCh37: Chr17:37822334 GRCh38: Chr17:39666081	TCAP	S159C	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 95387597.	NM_003673.4(TCAP):c.470C>T (p.Ser157Phe) GRCh37: Chr17:37822328 GRCh38: Chr17:39666075	TCAP	S157F	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 95227298.	NM_003673.4(TCAP):c.461G>A (p.Arg154His) GRCh37: Chr17:37822319 GRCh38: Chr17:39666066	TCAP	R154H	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 95033199.	NM_003673.4(TCAP):c.262G>T (p.Val88Leu) GRCh37: Chr17:37822120 GRCh38: Chr17:39665867	TCAP	V88L	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 943053100.	NM_003673.4(TCAP):c.204G>A (p.Met68Ile) GRCh37: Chr17:37822062 GRCh38: Chr17:39665809	TCAP	M68I	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter

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