ClinVar for MedGen (Select 209232) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3894526	NM_000257.4(MYH7):c.3606G>C (p.Glu1202Asp)	MYH7 (E1202D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894520	NM_004415.4(DSP):c.4914C>G (p.Asp1638Glu)	DSP (D1638E)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3894517	NM_000257.4(MYH7):c.4797C>T (p.Thr1599=)	MHRT, LOC126861897 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3894516	NM_001035.3(RYR2):c.13358C>T (p.Ala4453Val)	RYR2 (A4453V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894515	NM_000256.3(MYBPC3):c.476T>C (p.Met159Thr)	MYBPC3 (M159T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894513	NM_001035.3(RYR2):c.6850G>A (p.Gly2284Ser)	RYR2 (G2284S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894512	NM_005159.5(ACTC1):c.450C>T (p.Thr150=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3894511	NM_001035.3(RYR2):c.8216A>G (p.Asn2739Ser)	RYR2 (N2739S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894504	NM_000256.3(MYBPC3):c.2737+3G>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3894498	NM_016203.4(PRKAG2):c.385TCC[2] (p.Ser131del)	PRKAG2 (S131del +1 more)	Microsatellite (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3894497	NM_016203.4(PRKAG2):c.789A>G (p.Arg263=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894496	NM_000363.5(TNNI3):c.145C>G (p.Leu49Val)	TNNI3 (L49V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894491	NM_024422.6(DSC2):c.1177del (p.Tyr393fs)	DSC2 (Y250fs +1 more)	Deletion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 3894489	NM_001035.3(RYR2):c.973A>G (p.Lys325Glu)	RYR2 (K325E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894488	NM_001035.3(RYR2):c.49-12C>A	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3894487	NM_000432.4(MYL2):c.149G>A (p.Arg50Lys)	MYL2 (R31K +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3894486	NM_001005242.3(PKP2):c.1522T>G (p.Phe508Val)	PKP2 (F399V +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894471	NM_004415.4(DSP):c.6546T>C (p.Ser2182=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894465	NM_024334.3(TMEM43):c.583+6T>C	TMEM43	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3894464	NM_004415.4(DSP):c.6467G>A (p.Arg2156Lys)	DSP (R1557K +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894461	NM_001943.5(DSG2):c.1570C>A (p.Pro524Thr)	DSG2 (P524T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894459	NM_024422.6(DSC2):c.743A>T (p.Tyr248Phe)	DSC2 (Y105F +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894448	NM_000257.4(MYH7):c.2276del (p.Gly759fs)	MYH7 (G759fs)	Deletion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 3894445	NM_001005242.3(PKP2):c.-9A>G	PKP2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 3894440	NM_001035.3(RYR2):c.11403-5T>C	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3894438	NM_004415.4(DSP):c.7417A>G (p.Thr2473Ala)	DSP (T1874A +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894437	NM_016203.4(PRKAG2):c.1107C>A (p.Ser369Arg)	PRKAG2 (S127R +13 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894432	NM_001035.3(RYR2):c.9367+9del	RYR2	Deletion (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3894431	NM_001005242.3(PKP2):c.336+6A>C	PKP2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3894430	NM_001035.3(RYR2):c.7974A>G (p.Glu2658=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894426	NM_004415.4(DSP):c.2509C>T (p.Gln837Ter)	DSP (Q837*)	Single nucleotide variant (nonsense)	Cardiomyopathy	GPathogenic
Select item 3894424	NM_000256.3(MYBPC3):c.1466A>G (p.Asp489Gly)	MYBPC3 (D489G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894422	NM_001035.3(RYR2):c.3796G>A (p.Glu1266Lys)	LOC126806067, RYR2 (E1266K)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894421	NM_001943.5(DSG2):c.206C>A (p.Pro69Gln)	DSG2 (P69Q)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894420	NM_024422.6(DSC2):c.767G>A (p.Cys256Tyr)	DSC2 (C113Y +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894419	NM_024422.6(DSC2):c.1362C>T (p.Ser454=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894418	NM_024422.6(DSC2):c.1367_1372dup (p.Thr457_Val458insAlaThr)	DSC2	Duplication	Cardiomyopathy	GUncertain significance
Select item 3894416	NM_001035.3(RYR2):c.6167-11T>C	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3894415	NM_016203.4(PRKAG2):c.1336A>G (p.Ile446Val)	PRKAG2 (I204V +13 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894412	NM_024422.6(DSC2):c.1364C>T (p.Thr455Ile)	DSC2 (T312I +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894405	NM_001035.3(RYR2):c.6060C>G (p.Asn2020Lys)	RYR2 (N2020K)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894403	NM_000256.3(MYBPC3):c.2686G>T (p.Val896Leu)	MYBPC3 (V896L)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894402	NM_001035.3(RYR2):c.12155T>C (p.Met4052Thr)	RYR2 (M4052T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894399	NM_000363.5(TNNI3):c.153T>G (p.Thr51=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894389	NM_024422.6(DSC2):c.1931G>T (p.Gly644Val)	DSC2 (G501V +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894386	NM_000432.4(MYL2):c.94-3C>G	MYL2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3894385	NM_016203.4(PRKAG2):c.758_760del (p.Val253del)	PRKAG2 (V129del +6 more)	Deletion	Cardiomyopathy	GUncertain significance
Select item 3894384	NM_004415.4(DSP):c.4845G>C (p.Leu1615=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3894382	NM_016203.4(PRKAG2):c.933A>C (p.Lys311Asn)	PRKAG2 (K186N +13 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894380	NM_001035.3(RYR2):c.9946A>G (p.Lys3316Glu)	RYR2 (K3316E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894377	NM_000257.4(MYH7):c.5483C>A (p.Ala1828Asp)	MYH7 (A1828D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894374	NM_001035.3(RYR2):c.8605C>G (p.Pro2869Ala)	RYR2 (P2869A)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894373	NM_024422.6(DSC2):c.1342A>G (p.Ser448Gly)	DSC2 (S305G +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894370	NM_170707.4(LMNA):c.811-3C>A	LMNA	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3894358	NM_001035.3(RYR2):c.7222-7T>G	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3894351	NM_000432.4(MYL2):c.402+4A>T	MYL2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3894345	NM_024422.6(DSC2):c.1165T>A (p.Trp389Arg)	DSC2 (W246R +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894340	NM_170707.4(LMNA):c.213C>T (p.Ser71=)	LMNA	Single nucleotide variant (synonymous variant +2 more)	Cardiomyopathy	GLikely benign
Select item 3894336	NM_024422.6(DSC2):c.1075T>C (p.Ser359Pro)	DSC2 (S216P +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894335	NM_024422.6(DSC2):c.1952C>T (p.Thr651Ile)	DSC2 (T508I +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894330	NM_001035.3(RYR2):c.14210T>G (p.Phe4737Cys)	RYR2 (F4737C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894327	NM_000257.4(MYH7):c.3545C>A (p.Thr1182Lys)	MYH7 (T1182K)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894326	NM_001035.3(RYR2):c.4267A>G (p.Thr1423Ala)	RYR2 (T1423A)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894325	NM_001035.3(RYR2):c.3793C>G (p.His1265Asp)	LOC126806067, RYR2 (H1265D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894323	NM_001035.3(RYR2):c.1613-1G>A	RYR2	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy	GUncertain significance
Select item 3894321	NM_004415.4(DSP):c.6443_6446delinsG (p.Ala2148_Leu2149delinsGly)	DSP	Indel (inframe_indel)	Cardiomyopathy	GUncertain significance
Select item 3894320	NM_001943.5(DSG2):c.634T>C (p.Tyr212His)	DSG2 (Y212H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894314	NM_016203.4(PRKAG2):c.1006-15T>G	PRKAG2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3894313	NM_000257.4(MYH7):c.687C>G (p.Ala229=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894309	NM_001018005.2(TPM1):c.714G>A (p.Arg238=)	TPM1	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3894305	NM_001035.3(RYR2):c.8630T>G (p.Leu2877Arg)	RYR2 (L2877R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894300	NM_001035.3(RYR2):c.3595G>A (p.Asp1199Asn)	RYR2 (D1199N)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894292	NM_005159.5(ACTC1):c.826A>T (p.Ile276Phe)	ACTC1, GJD2-DT (I129F +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894291	NM_170707.4(LMNA):c.1349A>G (p.Lys450Arg)	LMNA (K242R +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894290	NM_001035.3(RYR2):c.1368G>T (p.Leu456=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894289	NM_004415.4(DSP):c.4493A>C (p.Lys1498Thr)	DSP (K1498T)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3894285	NM_001035.3(RYR2):c.7370C>T (p.Ser2457Phe)	RYR2 (S2457F)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894281	NM_004415.4(DSP):c.4745G>A (p.Arg1582Lys)	DSP (R1582K)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3894279	NM_001035.3(RYR2):c.9576A>T (p.Arg3192Ser)	RYR2 (R3192S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894278	NM_004415.4(DSP):c.521G>C (p.Cys174Ser)	DSP (C174S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894277	NM_024422.6(DSC2):c.210C>T (p.Asp70=)	DSC2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3894276	NM_000257.4(MYH7):c.2163-8C>G	MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3894273	NM_001035.3(RYR2):c.2535T>G (p.Thr845=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894272	NM_004415.4(DSP):c.2153C>G (p.Ala718Gly)	DSP (A718G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894271	NM_024422.6(DSC2):c.943-8G>A	DSC2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3894264	NM_001018005.2(TPM1):c.639G>T (p.Lys213Asn)	TPM1 (K177N +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy	GUncertain significance
Select item 3894261	NM_016203.4(PRKAG2):c.468C>G (p.Thr156=)	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3894259	NM_000432.4(MYL2):c.269T>G (p.Leu90Arg)	MYL2 (L71R +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894257	NM_001035.3(RYR2):c.6929-5T>C	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3894254	NM_001035.3(RYR2):c.9132A>G (p.Thr3044=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894253	NM_000256.3(MYBPC3):c.2029C>G (p.Pro677Ala)	MYBPC3 (P677A)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894250	NM_170707.4(LMNA):c.1842C>T (p.Gly614=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3894244	NM_001035.3(RYR2):c.10325C>A (p.Ala3442Glu)	RYR2 (A3442E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894243	NM_005159.5(ACTC1):c.663C>A (p.Val221=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894242	NM_004415.4(DSP):c.60C>G (p.Ala20=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894239	NM_000257.4(MYH7):c.3110C>T (p.Ser1037Phe)	MYH7 (S1037F)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894237	NM_024422.6(DSC2):c.271A>G (p.Lys91Glu)	DSC2 (K91E)	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3894235	NM_000363.5(TNNI3):c.114A>G (p.Lys38=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894228	NM_001035.3(RYR2):c.3714A>G (p.Pro1238=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894227	NM_016203.4(PRKAG2):c.272C>T (p.Ala91Val)	PRKAG2 (A47V +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance

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