ClinVar for MedGen (Select 209232) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 13920

<< First< Prev

Page of 140

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25734001.	NM_000363.5(TNNI3):c.611G>T (p.Arg204Leu) GRCh37: Chr19:55663224 GRCh38: Chr19:55151856	TNNI3	R204L	Cardiomyopathy	Likely pathogenic (Jun 19, 2023)	criteria provided, single submitter
Select item 25061632.	NM_000256.3(MYBPC3):c.2555dup (p.Gly853fs) GRCh37: Chr11:47358988-47358989 GRCh38: Chr11:47337437-47337438	MYBPC3	G853fs	Cardiomyopathy	Pathogenic (May 18, 2023)	criteria provided, single submitter
Select item 25030423.	NM_001458.5(FLNC):c.4702del (p.Asp1568fs) GRCh37: Chr7:128488734 GRCh38: Chr7:128848680	FLNC	D1568fs	Cardiomyopathy	Likely pathogenic	no assertion criteria provided
Select item 25018054.	NM_000257.4(MYH7):c.578A>G (p.Gln193Arg) GRCh37: Chr14:23901031 GRCh38: Chr14:23431822	MYH7	Q193R	Cardiomyopathy	Likely pathogenic	no assertion criteria provided
Select item 24999925.	NM_001015048.3(BAG5):c.321_322del (p.Lys108fs) GRCh37: Chr14:104027180-104027181 GRCh38: Chr14:103560843-103560844	BAG5	K108fs	Cardiomyopathy	Likely pathogenic	no assertion criteria provided
Select item 24445146.	NM_000256.3(MYBPC3):c.2905+1G>T GRCh37: Chr11:47356592 GRCh38: Chr11:47335041	MYBPC3		Cardiomyopathy	Likely pathogenic	no assertion criteria provided
Select item 24440187.	NM_001267550.2(TTN):c.79809dup (p.Val26604fs) GRCh37: Chr2:179431049-179431050 GRCh38: Chr2:178566322-178566323	TTN-AS1, TTN	V17539fs, V17664fs, V17731fs, V24036fs, V24963fs, V26604fs	Cardiomyopathy	Likely pathogenic	no assertion criteria provided
Select item 24430328.	NM_000257.4(MYH7):c.5420del (p.Gly1807fs) GRCh37: Chr14:23884343 GRCh38: Chr14:23415134	MYH7	G1807fs	Cardiomyopathy	Uncertain significance (Nov 26, 2021)	criteria provided, single submitter
Select item 24429959.	NM_144573.4(NEXN):c.1678G>C (p.Glu560Gln) GRCh37: Chr1:78408164 GRCh38: Chr1:77942479	NEXN	E496Q, E560Q	Cardiomyopathy	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 244299410.	NM_144573.4(NEXN):c.1527C>T (p.His509=) GRCh37: Chr1:78407761 GRCh38: Chr1:77942076	NEXN		Cardiomyopathy	Likely benign (Sep 21, 2021)	criteria provided, single submitter
Select item 244299311.	NM_144573.4(NEXN):c.1271C>A (p.Thr424Asn) GRCh37: Chr1:78401527 GRCh38: Chr1:77935842	NEXN	T360N, T424N	Cardiomyopathy	Uncertain significance (Jun 2, 2021)	criteria provided, single submitter
Select item 244299212.	NM_014000.3(VCL):c.3350G>A (p.Arg1117Gln) GRCh37: Chr10:75877872 GRCh38: Chr10:74118114	VCL	R1049Q, R1117Q	Cardiomyopathy	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 244298813.	NM_001018005.2(TPM1):c.727G>A (p.Glu243Lys) GRCh37: Chr15:63354799 GRCh38: Chr15:63062600	TPM1	E207K, E243K, E285K	Cardiomyopathy	Uncertain significance (Oct 18, 2021)	criteria provided, single submitter
Select item 244297514.	NM_000256.3(MYBPC3):c.122G>T (p.Arg41Leu) GRCh37: Chr11:47372960 GRCh38: Chr11:47351409	MYBPC3	R41L	Cardiomyopathy	Uncertain significance (Oct 8, 2021)	criteria provided, single submitter
Select item 244297415.	NM_000256.3(MYBPC3):c.1573del (p.Tyr525fs) GRCh37: Chr11:47364180 GRCh38: Chr11:47342629	MYBPC3	Y525fs	Cardiomyopathy	Likely pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 244297316.	NM_000256.3(MYBPC3):c.2766G>C (p.Gly922=) GRCh37: Chr11:47356732 GRCh38: Chr11:47335181	MYBPC3		Cardiomyopathy	Likely benign (Aug 10, 2021)	criteria provided, single submitter
Select item 244297217.	NM_000256.3(MYBPC3):c.2896_2898dup (p.Glu966_Ile967insGlu) GRCh37: Chr11:47356599-47356600 GRCh38: Chr11:47335048-47335049	MYBPC3		Cardiomyopathy	Uncertain significance (Sep 13, 2021)	criteria provided, single submitter
Select item 244297118.	NM_000256.3(MYBPC3):c.3265_3269del (p.Pro1089fs) GRCh37: Chr11:47354806-47354810 GRCh38: Chr11:47333255-47333259	MYBPC3	P1089fs	Cardiomyopathy	Likely pathogenic (Aug 7, 2021)	criteria provided, single submitter
Select item 244297019.	NM_000256.3(MYBPC3):c.3405C>T (p.Tyr1135=) GRCh37: Chr11:47354450 GRCh38: Chr11:47332899	MYBPC3		Cardiomyopathy	Likely benign (Jun 2, 2021)	criteria provided, single submitter
Select item 244296920.	NM_000256.3(MYBPC3):c.3471dup (p.Val1158fs) GRCh37: Chr11:47354383-47354384 GRCh38: Chr11:47332832-47332833	MYBPC3	V1158fs	Cardiomyopathy	Likely pathogenic (Jun 23, 2021)	criteria provided, single submitter
Select item 244296821.	NM_000256.3(MYBPC3):c.2905+1_3628-1del GRCh37: Chr11:47353810-47356592 GRCh38: Chr11:47332259-47335041	MYBPC3		Cardiomyopathy	Pathogenic (Nov 18, 2021)	criteria provided, single submitter
Select item 244296722.	NM_000256.3(MYBPC3):c.*2C>G GRCh37: Chr11:47353420 GRCh38: Chr11:47331869	MYBPC3		Cardiomyopathy	Uncertain significance (Oct 26, 2021)	criteria provided, single submitter
Select item 244296123.	NM_000335.5(SCN5A):c.1762C>T (p.His588Tyr) GRCh37: Chr3:38645331 GRCh38: Chr3:38603840	SCN5A	H588Y	Cardiomyopathy	Uncertain significance (Oct 22, 2021)	criteria provided, single submitter
Select item 244295924.	NM_005159.5(ACTC1):c.631_642del (p.Val211_Ile214del) GRCh37: Chr15:35084457-35084468 GRCh38: Chr15:34792256-34792267	GJD2-DT, ACTC1		Cardiomyopathy	Uncertain significance (Nov 1, 2021)	criteria provided, single submitter
Select item 244295825.	NM_001005242.3(PKP2):c.223G>T (p.Gly75Ter) GRCh37: Chr12:33049443 GRCh38: Chr12:32896509	PKP2	G75*	Cardiomyopathy	Likely pathogenic (Oct 12, 2021)	criteria provided, single submitter
Select item 244295726.	NC_000012.12:g.32843315_32868927del GRCh38: Chr12:32843315-32868927	PKP2		Cardiomyopathy	Likely pathogenic (Jul 16, 2021)	criteria provided, single submitter
Select item 244295627.	NM_001005242.3(PKP2):c.2084_2085del (p.His695fs) GRCh37: Chr12:32955419-32955420 GRCh38: Chr12:32802485-32802486	PKP2	H695fs, H739fs	Cardiomyopathy	Likely pathogenic (Aug 11, 2021)	criteria provided, single submitter
Select item 244295428.	NM_001330.5(CTF1):c.25+10dup GRCh37: Chr16:30907998-30907999 GRCh38: Chr16:30896677-30896678	CTF1		Cardiomyopathy	Likely benign (Jun 2, 2021)	criteria provided, single submitter
Select item 244295129.	NM_001943.5(DSG2):c.1381C>G (p.Gln461Glu) GRCh37: Chr18:29115333 GRCh38: Chr18:31535370	DSG2	Q461E	Cardiomyopathy	Uncertain significance (Jun 9, 2021)	criteria provided, single submitter
Select item 244294930.	NM_000257.4(MYH7):c.1235C>A (p.Thr412Asn) GRCh37: Chr14:23898460 GRCh38: Chr14:23429251	MYH7	T412N	Cardiomyopathy	Uncertain significance (Jun 18, 2021)	criteria provided, single submitter
Select item 244294831.	NM_000257.4(MYH7):c.1704T>A (p.Asn568Lys) GRCh37: Chr14:23896978 GRCh38: Chr14:23427769	MYH7	N568K	Cardiomyopathy	Uncertain significance (Nov 10, 2021)	criteria provided, single submitter
Select item 244294732.	NM_000257.4(MYH7):c.3130G>A (p.Val1044Met) GRCh37: Chr14:23891504 GRCh38: Chr14:23422295	MYH7	V1044M	Cardiomyopathy	Uncertain significance (Oct 5, 2021)	criteria provided, single submitter
Select item 244294633.	NM_001103.4(ACTN2):c.921G>T (p.Arg307=) GRCh37: Chr1:236902646 GRCh38: Chr1:236739346	ACTN2		Cardiomyopathy	Likely benign (Jun 4, 2021)	criteria provided, single submitter
Select item 244294534.	NM_001927.4(DES):c.1204A>T (p.Ile402Phe) GRCh37: Chr2:220286242 GRCh38: Chr2:219421520	DES	I258F, I312F, I379F, I395F, I401F, I402F	Cardiomyopathy	Uncertain significance (Oct 12, 2021)	criteria provided, single submitter
Select item 244294435.	NM_001927.4(DES):c.226ACC[1] (p.Thr77del) GRCh37: Chr2:220283410-220283412 GRCh38: Chr2:219418688-219418690	DES	T77del	Cardiomyopathy	Uncertain significance (Oct 1, 2021)	criteria provided, single submitter
Select item 244294336.	NM_020297.4(ABCC9):c.3316-3T>C GRCh37: Chr12:21995408 GRCh38: Chr12:21842474	ABCC9		Cardiomyopathy	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 244294037.	NM_003476.5(CSRP3):c.113-9T>C GRCh37: Chr11:19209860 GRCh38: Chr11:19188313	CSRP3		Cardiomyopathy	Uncertain significance (Jun 3, 2021)	criteria provided, single submitter
Select item 244293938.	NM_001943.5(DSG2):c.1513A>G (p.Thr505Ala) GRCh37: Chr18:29116254 GRCh38: Chr18:31536291	DSG2	T505A	Cardiomyopathy	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 244293639.	NM_001267550.2(TTN):c.4057G>C (p.Val1353Leu) GRCh37: Chr2:179643752 GRCh38: Chr2:178779025	LOC101927055, TTN	V1307L, V1353L	Cardiomyopathy	Uncertain significance (Oct 13, 2021)	criteria provided, single submitter
Select item 244293540.	NM_001267550.2(TTN):c.8219G>A (p.Trp2740Ter) GRCh37: Chr2:179635300 GRCh38: Chr2:178770573	TTN	W2694, W2740	Cardiomyopathy	Likely pathogenic (Nov 15, 2021)	criteria provided, single submitter
Select item 244293441.	NM_001267550.2(TTN):c.11933T>G (p.Leu3978Arg) GRCh37: Chr2:179606027 GRCh38: Chr2:178741300	TTN	L3615R, L3661R, L3740R, L3807R, L3978R	Cardiomyopathy	Uncertain significance (Sep 8, 2021)	criteria provided, single submitter
Select item 244293342.	NM_001267550.2(TTN):c.15352A>C (p.Ser5118Arg) GRCh37: Chr2:179599199 GRCh38: Chr2:178734472	TTN	S3874R, S4801R, S5118R	Cardiomyopathy	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter
Select item 244293243.	NM_001267550.2(TTN):c.18260G>A (p.Ser6087Asn) GRCh37: Chr2:179594867 GRCh38: Chr2:178730140	LOC126806430, TTN	S4843N, S5770N, S6087N	Cardiomyopathy	Uncertain significance (Jun 28, 2021)	criteria provided, single submitter
Select item 244293144.	NM_001267550.2(TTN):c.18927C>G (p.Ala6309=) GRCh37: Chr2:179593838 GRCh38: Chr2:178729111	LOC126806430, TTN		Cardiomyopathy	Likely benign (Jul 21, 2021)	criteria provided, single submitter
Select item 244293045.	NM_001267550.2(TTN):c.20148G>A (p.Met6716Ile) GRCh37: Chr2:179591944 GRCh38: Chr2:178727217	LOC126806429, TTN	M5472I, M6399I, M6716I	Cardiomyopathy	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 244292946.	NM_001267550.2(TTN):c.24725G>A (p.Ser8242Asn) GRCh37: Chr2:179583108 GRCh38: Chr2:178718381	TTN	S6998N, S7925N, S8242N	Cardiomyopathy	Uncertain significance (Aug 9, 2021)	criteria provided, single submitter
Select item 244292847.	NM_001267550.2(TTN):c.26130T>C (p.Ile8710=) GRCh37: Chr2:179579783 GRCh38: Chr2:178715056	TTN		Cardiomyopathy	Likely benign (Oct 25, 2021)	criteria provided, single submitter
Select item 244292748.	NM_001267550.2(TTN):c.30878A>G (p.Gln10293Arg) GRCh37: Chr2:179560921 GRCh38: Chr2:178696194	TTN	Q10293R, Q9049R, Q9976R	Cardiomyopathy	Likely benign (Aug 30, 2021)	criteria provided, single submitter
Select item 244292649.	NM_001267550.2(TTN):c.31633dup (p.Ala10545fs) GRCh37: Chr2:179557268-179557269 GRCh38: Chr2:178692541-178692542	TTN	A10228fs, A10545fs, A9301fs	Cardiomyopathy	Uncertain significance (Sep 3, 2021)	criteria provided, single submitter
Select item 244292550.	NM_001267550.2(TTN):c.33514_33516del (p.Glu11172del) GRCh37: Chr2:179544685-179544687 GRCh38: Chr2:178679958-178679960	TTN	E10855del, E11172del, E9928del	Cardiomyopathy	Uncertain significance (Nov 29, 2021)	criteria provided, single submitter
Select item 244292451.	NM_001267550.2(TTN):c.36733C>G (p.Pro12245Ala) GRCh37: Chr2:179527750 GRCh38: Chr2:178663023	TTN	P10506A, P11433A, P12245A	Cardiomyopathy	Uncertain significance (Jun 1, 2021)	criteria provided, single submitter
Select item 244292352.	NM_001267550.2(TTN):c.39087A>C (p.Pro13029=) GRCh37: Chr2:179517225 GRCh38: Chr2:178652498	TTN		Cardiomyopathy	Likely benign (Sep 13, 2021)	criteria provided, single submitter
Select item 244292253.	NM_001267550.2(TTN):c.39131C>A (p.Pro13044His) GRCh37: Chr2:179517071 GRCh38: Chr2:178652344	TTN	P10610H, P11537H, P13044H	Cardiomyopathy	Uncertain significance (Sep 13, 2021)	criteria provided, single submitter
Select item 244292154.	NM_001267550.2(TTN):c.39172G>A (p.Val13058Met) GRCh37: Chr2:179517030 GRCh38: Chr2:178652303	TTN	V10624M, V11551M, V13058M	Cardiomyopathy	Uncertain significance (Oct 22, 2021)	criteria provided, single submitter
Select item 244292055.	NM_001267550.2(TTN):c.43009del (p.His14337fs) GRCh37: Chr2:179497991 GRCh38: Chr2:178633264	TTN	H11769fs, H12696fs, H14337fs, H5272fs, H5397fs, H5464fs	Cardiomyopathy	Uncertain significance (Nov 9, 2021)	criteria provided, single submitter
Select item 244291956.	NM_001267550.2(TTN):c.48212C>G (p.Ser16071Ter) GRCh37: Chr2:179481306 GRCh38: Chr2:178616579	TTN, TTN-AS1	S13503, S14430, S16071, S7006, S7131, S7198	Cardiomyopathy	Likely pathogenic (Nov 4, 2021)	criteria provided, single submitter
Select item 244291857.	NM_001267550.2(TTN):c.48685G>A (p.Val16229Met) GRCh37: Chr2:179479649 GRCh38: Chr2:178614922	LOC126806426, TTN, TTN-AS1	V13661M, V14588M, V16229M, V7164M, V7289M, V7356M	Cardiomyopathy	Uncertain significance (Nov 16, 2021)	criteria provided, single submitter
Select item 244291758.	NM_001267550.2(TTN):c.51275G>A (p.Arg17092Lys) GRCh37: Chr2:179474978 GRCh38: Chr2:178610251	TTN-AS1, TTN	R14524K, R15451K, R17092K, R8027K, R8152K, R8219K	Cardiomyopathy	Likely benign (Oct 13, 2021)	criteria provided, single submitter
Select item 244291659.	NM_001267550.2(TTN):c.56155T>C (p.Phe18719Leu) GRCh37: Chr2:179464473 GRCh38: Chr2:178599746	TTN, TTN-AS1	F16151L, F17078L, F18719L, F9654L, F9779L, F9846L	Cardiomyopathy	Likely benign (Oct 13, 2021)	criteria provided, single submitter
Select item 244291560.	NM_001267550.2(TTN):c.57166G>T (p.Gly19056Ter) GRCh37: Chr2:179462731 GRCh38: Chr2:178598004	TTN, TTN-AS1	G10116, G10183, G16488, G17415, G19056, G9991	Cardiomyopathy	Likely pathogenic (Oct 12, 2021)	criteria provided, single submitter
Select item 244291461.	NM_001267550.2(TTN):c.59032A>G (p.Ile19678Val) GRCh37: Chr2:179457903 GRCh38: Chr2:178593176	TTN-AS1, TTN	I10613V, I10738V, I10805V, I17110V, I18037V, I19678V	Cardiomyopathy	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 244291362.	NM_001267550.2(TTN):c.60455C>T (p.Thr20152Ile) GRCh37: Chr2:179455997 GRCh38: Chr2:178591270	TTN, TTN-AS1	T11087I, T11212I, T11279I, T17584I, T18511I, T20152I	Cardiomyopathy	Uncertain significance (Sep 28, 2021)	criteria provided, single submitter
Select item 244291263.	NM_001267550.2(TTN):c.60953T>C (p.Val20318Ala) GRCh37: Chr2:179455499 GRCh38: Chr2:178590772	TTN, TTN-AS1	V11253A, V11378A, V11445A, V17750A, V18677A, V20318A	Cardiomyopathy	Uncertain significance (Aug 16, 2021)	criteria provided, single submitter
Select item 244291164.	NM_001267550.2(TTN):c.61172T>A (p.Val20391Glu) GRCh37: Chr2:179455280 GRCh38: Chr2:178590553	TTN, TTN-AS1	V11326E, V11451E, V11518E, V17823E, V18750E, V20391E	Cardiomyopathy	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 244291065.	NM_001267550.2(TTN):c.64011C>T (p.Tyr21337=) GRCh37: Chr2:179451927 GRCh38: Chr2:178587200	TTN, TTN-AS1		Cardiomyopathy	Likely benign (Oct 13, 2021)	criteria provided, single submitter
Select item 244290966.	NM_001267550.2(TTN):c.64240C>T (p.Arg21414Cys) GRCh37: Chr2:179451388 GRCh38: Chr2:178586661	TTN, TTN-AS1	R12349C, R12474C, R12541C, R18846C, R19773C, R21414C	Cardiomyopathy	Uncertain significance (Jun 23, 2021)	criteria provided, single submitter
Select item 244290867.	NM_001267550.2(TTN):c.64664T>C (p.Val21555Ala) GRCh37: Chr2:179449807 GRCh38: Chr2:178585080	TTN, TTN-AS1	V12490A, V12615A, V12682A, V18987A, V19914A, V21555A	Cardiomyopathy	Uncertain significance (Jun 3, 2021)	criteria provided, single submitter
Select item 244290768.	NM_001267550.2(TTN):c.65796dup (p.Asp21933fs) GRCh37: Chr2:179447733-179447734 GRCh38: Chr2:178583006-178583007	TTN, TTN-AS1	D12868fs, D12993fs, D13060fs, D19365fs, D20292fs, D21933fs	Cardiomyopathy	Likely pathogenic (Nov 1, 2021)	criteria provided, single submitter
Select item 244290669.	NM_001267550.2(TTN):c.66525_66528dup (p.Trp22177fs) GRCh37: Chr2:179446466-179446467 GRCh38: Chr2:178581739-178581740	TTN, TTN-AS1	W13112fs, W13237fs, W13304fs, W19609fs, W20536fs, W22177fs	Cardiomyopathy	Likely pathogenic (Jun 18, 2021)	criteria provided, single submitter
Select item 244290570.	NM_001267550.2(TTN):c.68051G>A (p.Arg22684Lys) GRCh37: Chr2:179443706 GRCh38: Chr2:178578979	LOC126806423, TTN, TTN-AS1	R13619K, R13744K, R13811K, R20116K, R21043K, R22684K	Cardiomyopathy	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 244290471.	NM_001267550.2(TTN):c.69976G>A (p.Glu23326Lys) GRCh37: Chr2:179440883 GRCh38: Chr2:178576156	LOC126806422, TTN, TTN-AS1	E14261K, E14386K, E14453K, E20758K, E21685K, E23326K	Cardiomyopathy	Uncertain significance (Sep 28, 2021)	criteria provided, single submitter
Select item 244290372.	NM_001267550.2(TTN):c.74741C>T (p.Thr24914Ile) GRCh37: Chr2:179436118 GRCh38: Chr2:178571391	TTN, TTN-AS1	T15849I, T15974I, T16041I, T22346I, T23273I, T24914I	Cardiomyopathy	Uncertain significance (Sep 9, 2021)	criteria provided, single submitter
Select item 244290273.	NM_001267550.2(TTN):c.75143T>C (p.Leu25048Ser) GRCh37: Chr2:179435716 GRCh38: Chr2:178570989	TTN, TTN-AS1	L15983S, L16108S, L16175S, L22480S, L23407S, L25048S	Cardiomyopathy	Uncertain significance (Jun 8, 2021)	criteria provided, single submitter
Select item 244290174.	NM_001267550.2(TTN):c.76036A>T (p.Lys25346Ter) GRCh37: Chr2:179434823 GRCh38: Chr2:178570096	TTN, TTN-AS1	K16281, K16406, K16473, K22778, K23705, K25346	Cardiomyopathy	Uncertain significance (Aug 10, 2021)	criteria provided, single submitter
Select item 244290075.	NM_001267550.2(TTN):c.76776C>G (p.Ala25592=) GRCh37: Chr2:179434083 GRCh38: Chr2:178569356	TTN, TTN-AS1		Cardiomyopathy	Likely benign (Nov 1, 2021)	criteria provided, single submitter
Select item 244289976.	NM_001267550.2(TTN):c.79724C>T (p.Thr26575Ile) GRCh37: Chr2:179431135 GRCh38: Chr2:178566408	TTN, TTN-AS1	T17510I, T17635I, T17702I, T24007I, T24934I, T26575I	Cardiomyopathy	Likely benign (Sep 22, 2021)	criteria provided, single submitter
Select item 244289877.	NM_001267550.2(TTN):c.80748T>C (p.Asp26916=) GRCh37: Chr2:179430111 GRCh38: Chr2:178565384	TTN, TTN-AS1		Cardiomyopathy	Likely benign (Aug 16, 2021)	criteria provided, single submitter
Select item 244289778.	NM_001267550.2(TTN):c.82123G>A (p.Gly27375Arg) GRCh37: Chr2:179428736 GRCh38: Chr2:178564009	TTN, TTN-AS1	G18310R, G18435R, G18502R, G24807R, G25734R, G27375R	Cardiomyopathy	Uncertain significance (Oct 12, 2021)	criteria provided, single submitter
Select item 244289679.	NM_001267550.2(TTN):c.82537G>C (p.Gly27513Arg) GRCh37: Chr2:179428322 GRCh38: Chr2:178563595	TTN, TTN-AS1	G18448R, G18573R, G18640R, G24945R, G25872R, G27513R	Cardiomyopathy	Uncertain significance (Jun 4, 2021)	criteria provided, single submitter
Select item 244289580.	NM_001267550.2(TTN):c.82912del (p.Glu27638fs) GRCh37: Chr2:179427947 GRCh38: Chr2:178563220	TTN, TTN-AS1	E18573fs, E18698fs, E18765fs, E25070fs, E25997fs, E27638fs	Cardiomyopathy	Likely pathogenic (Sep 21, 2021)	criteria provided, single submitter
Select item 244289481.	NM_000371.4(TTR):c.231del (p.Leu78fs) GRCh37: Chr18:29175111 GRCh38: Chr18:31595148	TTR	L78fs	Cardiomyopathy	Uncertain significance (Dec 6, 2021)	criteria provided, single submitter
Select item 244289382.	NM_001267550.2(TTN):c.91400G>C (p.Arg30467Pro) GRCh37: Chr2:179415858 GRCh38: Chr2:178551131	TTN, TTN-AS1	R21402P, R21527P, R21594P, R27899P, R28826P, R30467P	Cardiomyopathy	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 244289283.	NM_001267550.2(TTN):c.92302A>G (p.Lys30768Glu) GRCh37: Chr2:179414051 GRCh38: Chr2:178549324	TTN, TTN-AS1	K21703E, K21828E, K21895E, K28200E, K29127E, K30768E	Cardiomyopathy	Uncertain significance (Jun 23, 2021)	criteria provided, single submitter
Select item 244289184.	NM_001267550.2(TTN):c.95593_95594del (p.Asp31865fs) GRCh37: Chr2:179410243-179410244 GRCh38: Chr2:178545516-178545517	TTN, TTN-AS1	D22800fs, D22925fs, D22992fs, D29297fs, D30224fs, D31865fs	Cardiomyopathy	Likely pathogenic (Sep 24, 2021)	criteria provided, single submitter
Select item 244289085.	NM_001267550.2(TTN):c.98051G>A (p.Gly32684Asp) GRCh37: Chr2:179404842 GRCh38: Chr2:178540115	TTN, TTN-AS1	G23619D, G23744D, G23811D, G30116D, G31043D, G32684D	Cardiomyopathy	Uncertain significance (Jun 16, 2021)	criteria provided, single submitter
Select item 244288986.	NM_001267550.2(TTN):c.101680T>C (p.Phe33894Leu) GRCh37: Chr2:179399662 GRCh38: Chr2:178534935	TTN, TTN-AS1	F24829L, F24954L, F25021L, F31326L, F32253L, F33894L	Cardiomyopathy	Uncertain significance (Nov 19, 2021)	criteria provided, single submitter
Select item 244288887.	NM_001267550.2(TTN):c.102772C>A (p.Pro34258Thr) GRCh37: Chr2:179398570 GRCh38: Chr2:178533843	TTN, TTN-AS1	P25193T, P25318T, P25385T, P31690T, P32617T, P34258T	Cardiomyopathy	Uncertain significance (Jul 22, 2021)	criteria provided, single submitter
Select item 244288788.	NM_001267550.2(TTN):c.102910G>A (p.Asp34304Asn) GRCh37: Chr2:179398432 GRCh38: Chr2:178533705	TTN, TTN-AS1	D25239N, D25364N, D25431N, D31736N, D32663N, D34304N	Cardiomyopathy	Uncertain significance (Aug 16, 2021)	criteria provided, single submitter
Select item 244288689.	NM_001267550.2(TTN):c.103402G>A (p.Glu34468Lys) GRCh37: Chr2:179397940 GRCh38: Chr2:178533213	TTN, TTN-AS1	E25403K, E25528K, E25595K, E31900K, E32827K, E34468K	Cardiomyopathy	Uncertain significance (Nov 8, 2021)	criteria provided, single submitter
Select item 244288590.	NM_001267550.2(TTN):c.106862G>C (p.Gly35621Ala) GRCh37: Chr2:179393616 GRCh38: Chr2:178528889	TTN, TTN-AS1	G26556A, G26681A, G26748A, G33053A, G33980A, G35621A	Cardiomyopathy	Uncertain significance (Jun 29, 2021)	criteria provided, single submitter
Select item 244288291.	NM_000256.3(MYBPC3):c.773-7_773dup GRCh37: Chr11:47369455-47369456 GRCh38: Chr11:47347904-47347905	MYBPC3		Cardiomyopathy	Likely pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 244288092.	NM_144573.4(NEXN):c.337A>G (p.Arg113Gly) GRCh37: Chr1:78383848 GRCh38: Chr1:77918163	LOC126805765, NEXN	R113G, R49G	Cardiomyopathy	Uncertain significance (Feb 16, 2022)	criteria provided, single submitter
Select item 244287993.	NM_014000.3(VCL):c.2539C>G (p.Pro847Ala) GRCh37: Chr10:75867092 GRCh38: Chr10:74107334	VCL	P847A	Cardiomyopathy	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 244287894.	NM_004415.4(DSP):c.4604T>C (p.Leu1535Pro) GRCh37: Chr6:7581027 GRCh38: Chr6:7580794	DSP	L1535P	Cardiomyopathy	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 244287795.	NM_004415.4(DSP):c.801_820dup (p.Asn274fs) GRCh37: Chr6:7565612-7565613 GRCh38: Chr6:7565379-7565380	DSP	N274fs	Cardiomyopathy	Likely pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 244286596.	NM_000256.3(MYBPC3):c.470T>A (p.Phe157Tyr) GRCh37: Chr11:47371600 GRCh38: Chr11:47350049	MYBPC3	F157Y	Cardiomyopathy	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 244286497.	NM_000256.3(MYBPC3):c.1017G>A (p.Gln339=) GRCh37: Chr11:47367831 GRCh38: Chr11:47346280	MYBPC3		Cardiomyopathy	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 244286398.	NM_000256.3(MYBPC3):c.1224-34C>T GRCh37: Chr11:47364847 GRCh38: Chr11:47343296	MYBPC3		Cardiomyopathy	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 244286299.	NM_000256.3(MYBPC3):c.1678G>C (p.Asp560His) GRCh37: Chr11:47363654 GRCh38: Chr11:47342103	MYBPC3	D560H	Cardiomyopathy	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 2442861100.	NM_000256.3(MYBPC3):c.1766G>T (p.Arg589Leu) GRCh37: Chr11:47363566 GRCh38: Chr11:47342015	MYBPC3	R589L	Cardiomyopathy	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter

<< First< Prev

Page of 140