C0751337[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 237012	NM_000117.2(EMD):c.-248_*326dup1339	EMD, LOC130068864	Duplication	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1215766	NM_000117.3(EMD):c.-161CAACGATTCGGCTGTGACGCGA[1]	EMD	Microsatellite (5 prime UTR variant)	not provided +2 more	GLikely benign
Select item 11172	NM_000117.3(EMD):c.1A>G (p.Met1Val)	EMD (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1074958	NM_000117.3(EMD):c.2T>G (p.Met1Arg)	EMD (M1R)	Single nucleotide variant (missense variant +1 more)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 281087	NM_000117.3(EMD):c.3G>A (p.Met1Ile)	EMD (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2107259	NM_000117.3(EMD):c.9C>T (p.Asn3=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 462823	NM_000117.3(EMD):c.12C>G (p.Tyr4Ter)	EMD (Y4*)	Single nucleotide variant (nonsense)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 290626	NM_000117.3(EMD):c.12C>T (p.Tyr4=)	EMD	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 1543558	NM_000117.3(EMD):c.15A>G (p.Ala5=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 201778	NM_000117.3(EMD):c.20T>A (p.Leu7His)	EMD (L7H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1496459	NM_000117.3(EMD):c.23C>T (p.Ser8Leu)	EMD (S8L)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 222597	NM_000117.3(EMD):c.23C>G (p.Ser8Trp)	EMD (S8W)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2130003	NM_000117.3(EMD):c.30C>T (p.Thr10=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1097205	NM_000117.3(EMD):c.30C>G (p.Thr10=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GLikely benign
Select item 1060231	NM_000117.3(EMD):c.31G>A (p.Glu11Lys)	EMD (E11K)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2006904	NM_000117.3(EMD):c.32A>G (p.Glu11Gly)	EMD (E11G)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1572078	NM_000117.3(EMD):c.33G>C (p.Glu11Asp)	EMD (E11D)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1131752	NM_000117.3(EMD):c.33G>A (p.Glu11=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GLikely benign
Select item 1361208	NM_000117.3(EMD):c.37A>C (p.Thr13Pro)	EMD (T13P)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1159435	NM_000117.3(EMD):c.39C>A (p.Thr13=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1085973	NM_000117.3(EMD):c.39C>T (p.Thr13=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2896870	NM_000117.3(EMD):c.41C>A (p.Thr14Asn)	EMD (T14N)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1131078	NM_000117.3(EMD):c.46C>T (p.Leu16=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2849680	NM_000117.3(EMD):c.48G>T (p.Leu16=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1489618	NM_000117.3(EMD):c.52C>A (p.Arg18=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 227354	NM_000117.3(EMD):c.57C>T (p.Tyr19=)	EMD	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2001617	NM_000117.3(EMD):c.59A>G (p.Asn20Ser)	EMD (N20S)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 280697	NM_000117.3(EMD):c.60del (p.Asn20fs)	EMD (N20fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2144589	NM_000117.3(EMD):c.63C>T (p.Ile21=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 201779	NM_000117.3(EMD):c.65C>T (p.Pro22Leu)	EMD (P22L)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2692608	NM_000117.3(EMD):c.66G>A (p.Pro22=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1956363	NM_000117.3(EMD):c.66G>T (p.Pro22=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 834387	NM_000117.3(EMD):c.68_69delinsCT (p.His23Pro)	EMD (H23P)	Indel (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1992860	NM_000117.3(EMD):c.69C>G (p.His23Gln)	EMD (H23Q)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2971779	NM_000117.3(EMD):c.70G>C (p.Gly24Arg)	EMD (G24R)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 179103	NM_000117.3(EMD):c.70G>A (p.Gly24Arg)	EMD (G24R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 234992	NM_000117.3(EMD):c.73C>A (p.Pro25Thr)	EMD (P25T)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 1391116	NM_000117.3(EMD):c.74C>G (p.Pro25Arg)	EMD (P25R)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1027338	NM_000117.3(EMD):c.74C>T (p.Pro25Leu)	EMD (P25L)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 859127	NM_000117.3(EMD):c.77dup (p.Val27fs)	EMD (V27fs)	Duplication (frameshift variant)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 179659	NM_000117.3(EMD):c.77T>C (p.Val26Ala)	EMD (V26A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2004287	NM_000117.3(EMD):c.79del (p.Val26_Val27insTer)	EMD	Deletion (nonsense)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 1351390	NM_000117.3(EMD):c.82G>C (p.Gly28Arg)	EMD (G28R)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 425517	NM_000117.3(EMD):c.82G>A (p.Gly28Arg)	EMD (G28R)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2441221	NM_000117.3(EMD):c.82+3A>G	EMD	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 1, X-linked +1 more	GUncertain significance
Select item 2416705	NM_000117.3(EMD):c.82+4C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 283289	NM_000117.3(EMD):c.82+4C>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 1081477	NM_000117.3(EMD):c.82+9C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2152855	NM_000117.3(EMD):c.82+12C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1581321	NM_000117.3(EMD):c.82+17G>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 3018562	NM_000117.3(EMD):c.82+19G>C	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2966175	NM_000117.3(EMD):c.82+20A>C	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1580312	NM_000117.3(EMD):c.83-18C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1637310	NM_000117.3(EMD):c.83-17G>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2814802	NM_000117.3(EMD):c.83-16C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2919746	NM_000117.3(EMD):c.83-13C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 42279	NM_000117.3(EMD):c.83-13C>G	EMD	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2729787	NM_000117.3(EMD):c.83-12G>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2837577	NM_000117.3(EMD):c.83-9T>C	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2835429	NM_000117.3(EMD):c.83-6G>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 857566	NM_000117.3(EMD):c.83-2A>C	EMD	Single nucleotide variant (splice acceptor variant)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 531735	NM_000117.3(EMD):c.83G>A (p.Gly28Glu)	EMD (G28E)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 999637	NM_000117.3(EMD):c.85T>C (p.Ser29Pro)	EMD (S29P)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2742631	NM_000117.3(EMD):c.86C>T (p.Ser29Leu)	EMD (S29L)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2845271	NM_000117.3(EMD):c.87A>G (p.Ser29=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2758175	NM_000117.3(EMD):c.92G>C (p.Arg31Pro)	EMD (R31P)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1519495	NM_000117.3(EMD):c.92G>T (p.Arg31Leu)	EMD (R31L)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2758177	NM_000117.3(EMD):c.95G>C (p.Arg32Thr)	EMD (R32T)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2036421	NM_000117.3(EMD):c.96G>A (p.Arg32=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2736282	NM_000117.3(EMD):c.102C>T (p.Tyr34=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1074959	NM_000117.3(EMD):c.102C>G (p.Tyr34Ter)	EMD (Y34*)	Single nucleotide variant (nonsense)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 201780	NM_000117.3(EMD):c.103G>A (p.Glu35Lys)	EMD (E35K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1066332	NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	EMD (K37del)	Microsatellite (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2029537	NM_000117.3(EMD):c.105G>A (p.Glu35=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 381494	NM_000117.3(EMD):c.108G>A (p.Lys36=)	EMD	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1934330	NM_000117.3(EMD):c.110A>G (p.Lys37Arg)	EMD (K37R)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 426553	NM_000117.3(EMD):c.110A>T (p.Lys37Met)	EMD (K37M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 201782	NM_000117.3(EMD):c.115_117del (p.Phe39del)	EMD (F39del)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1573931	NM_000117.3(EMD):c.114C>A (p.Ile38=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1539960	NM_000117.3(EMD):c.114C>T (p.Ile38=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1097620	NM_000117.3(EMD):c.117C>T (p.Phe39=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 942165	NM_000117.3(EMD):c.118G>C (p.Glu40Gln)	EMD (E40Q)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2841804	NM_000117.3(EMD):c.121T>G (p.Tyr41Asp)	EMD (Y41D)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 409877	NM_000117.3(EMD):c.123C>A (p.Tyr41Ter)	EMD (Y41*)	Single nucleotide variant (nonsense)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 1143199	NM_000117.3(EMD):c.129C>T (p.Thr43=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 11176	NM_000117.3(EMD):c.130C>T (p.Gln44Ter)	EMD (Q44*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 706818	NM_000117.3(EMD):c.132G>A (p.Gln44=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 531731	NM_000117.3(EMD):c.135dup (p.Arg46fs)	EMD (R46fs)	Duplication (frameshift variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 864177	NM_000117.3(EMD):c.136C>T (p.Arg46Trp)	EMD (R46W)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1417656	NM_000117.3(EMD):c.137G>A (p.Arg46Gln)	EMD (R46Q)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1985808	NM_000117.3(EMD):c.139C>T (p.Arg47Trp)	EMD (R47W)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2716920	NM_000117.3(EMD):c.143dup (p.Ser49fs)	EMD (S49fs)	Duplication (frameshift variant)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 500783	NM_000117.3(EMD):c.144C>G (p.Leu48=)	EMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 42271	NM_000117.3(EMD):c.144C>T (p.Leu48=)	EMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 234991	NM_000117.3(EMD):c.153dup (p.Ser52fs)	EMD (S52fs)	Duplication (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1284695	NM_000117.3(EMD):c.148C>T (p.Pro50Ser)	EMD (P50S)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 1074960	NM_000117.3(EMD):c.153del (p.Ser52fs)	EMD (S52fs)	Deletion (frameshift variant)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 285164	NM_000117.3(EMD):c.149C>A (p.Pro50His)	EMD (P50H)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2886386	NM_000117.3(EMD):c.152C>G (p.Pro51Arg)	EMD (P51R)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1149937	NM_000117.3(EMD):c.153C>G (p.Pro51=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign

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