ClinVar for MedGen (Select 108177) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247695	NC_000001.10:g.(?_154148571)_(154148744_?)dup	TPM3	Duplication	Congenital myopathy with fiber type disproportion +1 more	GLikely pathogenic
Select item 3247694	NC_000001.10:g.(?_154141771)_(154148734_?)del	TPM3	Deletion	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 3236838	NM_000540.3(RYR1):c.[10097G>A;11798A>G4711A>G]	RYR1 (R3366H +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 2954071	NM_152263.4(TPM3):c.8A>C (p.Glu3Ala)	TPM3 (E3A)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 2953823	NM_152263.4(TPM3):c.643-13A>C	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2953151	NM_152263.4(TPM3):c.855-20A>G	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2951280	NM_152263.4(TPM3):c.346G>A (p.Glu116Lys)	TPM3 (E116K +1 more)	Single nucleotide variant (missense variant +3 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 2951138	NM_152263.4(TPM3):c.137C>T (p.Ala46Val)	TPM3 (A46V)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely pathogenic
Select item 2948987	NM_152263.4(TPM3):c.273_281del (p.Arg92_Gln94del)	TPM3	Deletion (inframe_deletion +3 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 2945894	NM_152263.4(TPM3):c.776-6G>C	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 2945086	NM_152263.4(TPM3):c.118-3_118-2del	TPM3	Microsatellite (splice acceptor variant)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 2942948	NM_152263.4(TPM3):c.687T>C (p.Leu229=)	TPM3	Single nucleotide variant (synonymous variant +2 more)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2942922	NM_152263.4(TPM3):c.642+8C>G	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2942920	NM_152263.4(TPM3):c.714C>G (p.Thr238=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2941796	NM_152263.4(TPM3):c.705+12G>T	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 2940537	NM_152263.4(TPM3):c.855-19T>G	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2940325	NM_152263.4(TPM3):c.763G>A (p.Asp255Asn)	TPM3 (D128N +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 2940069	NM_152263.4(TPM3):c.117+14T>C	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2939283	NM_152263.4(TPM3):c.243+1G>A	TPM3	Single nucleotide variant (splice donor variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely pathogenic
Select item 2938120	NM_152263.4(TPM3):c.171G>A (p.Glu57=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2938076	NM_152263.4(TPM3):c.503G>T (p.Arg168Leu)	TPM3 (R168L +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 2934830	NM_152263.4(TPM3):c.612C>T (p.Asn204=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2934019	NM_152263.4(TPM3):c.775+15G>C	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2933953	NM_152263.4(TPM3):c.118C>T (p.Leu40=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 2932970	NM_152263.4(TPM3):c.378-11A>T	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2929574	NM_152263.4(TPM3):c.243+17T>C	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 2929427	NM_152263.4(TPM3):c.36G>C (p.Leu12=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 2929068	NM_152263.4(TPM3):c.776-18G>T	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 2927772	NM_152263.4(TPM3):c.552T>C (p.Ala184=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 2926368	NM_152263.4(TPM3):c.821A>C (p.Glu274Ala)	TPM3 (E237A +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 2925294	NM_152263.4(TPM3):c.452A>C (p.Glu151Ala)	TPM3 (E24A +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GPathogenic
Select item 2925040	NM_152263.4(TPM3):c.643-8_643-4del	TPM3	Deletion (intron variant)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 2924019	NM_152263.4(TPM3):c.510G>A (p.Leu170=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 2639367	NM_152263.4(TPM3):c.636G>A (p.Ala212=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy 4B, autosomal recessive +2 more	GLikely benign
Select item 2627379	NM_000540.3(RYR1):c.[11941C>T;8342_8343del]	RYR1, LOC126862902 (H3976Y +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
Select item 2582815	NM_001100.4(ACTA1):c.143G>C (p.Gly48Ala)	ACTA1 (G48A)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GLikely pathogenic
Select item 2582794	NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)	ACTA1 (D294Y)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2431882	NM_152263.4(TPM3):c.535C>T (p.Arg179Cys)	TPM3 (R142C +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with fiber type disproportion	GLikely pathogenic
Select item 2190731	NM_152263.4(TPM3):c.591G>A (p.Glu197=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 2188499	NM_152263.4(TPM3):c.854+8T>C	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 2178911	NM_152263.4(TPM3):c.19A>G (p.Lys7Glu)	TPM3 (K7E)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 2172695	NM_152263.4(TPM3):c.642+2T>C	TPM3	Single nucleotide variant (intron variant +1 more)	Congenital myopathy 4B, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 2166997	NM_152263.4(TPM3):c.317G>A (p.Arg106His)	TPM3 (R106H +1 more)	Single nucleotide variant (missense variant +3 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 2165715	NM_152263.4(TPM3):c.716G>A (p.Arg239His)	TPM3 (R202H +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 2157024	NM_152263.4(TPM3):c.635C>T (p.Ala212Val)	TPM3 (A175V +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 2153975	NM_152263.4(TPM3):c.118-20G>C	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2149684	NM_152263.4(TPM3):c.776-6G>A	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2147057	NM_152263.4(TPM3):c.706-5C>G	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2141661	NM_152263.4(TPM3):c.272G>A (p.Arg91His)	TPM3 (R54H +1 more)	Single nucleotide variant (missense variant +3 more)	Congenital myopathy with fiber type disproportion +1 more	GLikely pathogenic
Select item 2136561	NM_152263.4(TPM3):c.495+12T>G	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 2122092	NM_152263.4(TPM3):c.855-8T>A	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2121464	NM_152263.4(TPM3):c.185_193del (p.Ser62_Ala64del)	TPM3	Deletion (inframe_deletion +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 2108773	NM_152263.4(TPM3):c.118-11G>C	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2072372	NM_152263.4(TPM3):c.706-13A>G	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 2062997	NM_152263.4(TPM3):c.235G>C (p.Ala79Pro)	TPM3 (A79P)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 2057125	NM_152263.4(TPM3):c.775+6G>T	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 2056584	NM_152263.4(TPM3):c.621T>G (p.Ser207=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 2051487	NM_152263.4(TPM3):c.378-11A>G	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 2034113	NM_152263.4(TPM3):c.159G>A (p.Gly53=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 2027723	NM_001278188.2(TPM3):c.69-3046CTGAGG[3]	TPM3	Microsatellite (intron variant)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 1994150	NM_152263.4(TPM3):c.566+13C>T	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 1974095	NM_152263.4(TPM3):c.518T>A (p.Ile173Asn)	TPM3 (I46N +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 1965148	NM_152263.4(TPM3):c.776-15C>T	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 1964830	NM_152263.4(TPM3):c.775+7A>G	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 1937088	NM_152263.4(TPM3):c.753A>G (p.Glu251=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 1715660	NM_152263.4(TPM3):c.245C>T (p.Ala82Val)	TPM3 (A45V +1 more)	Single nucleotide variant (missense variant +3 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 1678617	NM_000540.3(RYR1):c.640A>G (p.Thr214Ala)	RYR1 (T214A)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +4 more	GUncertain significance
Select item 1671853	NM_152263.4(TPM3):c.172C>T (p.Leu58=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 1666549	NM_152263.4(TPM3):c.495+9C>G	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 1664667	NM_152263.4(TPM3):c.210G>A (p.Glu70=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 1652076	NM_152263.4(TPM3):c.378-16G>T	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 1643897	NM_000540.3(RYR1):c.1925+19G>A	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +5 more	GLikely benign
Select item 1639537	NM_000540.3(RYR1):c.11091C>T (p.Pro3697=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +5 more	GLikely benign
Select item 1638264	NM_152263.4(TPM3):c.615C>G (p.Leu205=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 1632367	NM_000257.4(MYH7):c.4953+14G>A	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +6 more	GLikely benign
Select item 1628031	NM_152263.4(TPM3):c.705+19T>C	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 1624248	NM_000540.3(RYR1):c.12013-18C>A	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +6 more	GLikely benign
Select item 1615065	NM_152263.4(TPM3):c.228G>A (p.Glu76=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 1604930	NM_152263.4(TPM3):c.854+20G>A	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 1598453	NM_152263.4(TPM3):c.706-8T>G	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 1598012	NM_152263.4(TPM3):c.495+13C>T	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 1580451	NM_152263.4(TPM3):c.546A>G (p.Glu182=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 1567396	NM_000540.3(RYR1):c.12813C>T (p.Gly4271=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GLikely benign
Select item 1565934	NM_003289.4(TPM2):c.564-20_564-19dup	TPM2	Duplication (intron variant)	Arthrogryposis, distal, type 1A +2 more	GBenign/Likely benign
Select item 1549275	NM_152263.4(TPM3):c.706-11A>G	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 1528652	NM_152263.4(TPM3):c.495+10C>G	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 1528131	NM_152263.4(TPM3):c.855-6A>T	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 1526419	NM_152263.4(TPM3):c.118-12G>A	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion	GPathogenic/Likely pathogenic
Select item 1524255	NM_152263.4(TPM3):c.88C>G (p.Gln30Glu)	TPM3 (Q30E)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 1519269	NM_000257.4(MYH7):c.4461C>G (p.Ala1487=)	MHRT, MYH7	Single nucleotide variant (synonymous variant)	MYH7-related skeletal myopathy +6 more	GConflicting classifications of pathogenicity
Select item 1518234	NM_152263.4(TPM3):c.401G>A (p.Arg134Gln)	TPM3 (R134Q +3 more)	Single nucleotide variant (missense variant +1 more)	Centronuclear myopathy +2 more	GConflicting classifications of pathogenicity
Select item 1516996	NM_000257.4(MYH7):c.268A>G (p.Met90Val)	MYH7 (M90V)	Single nucleotide variant (missense variant)	MYH7-related skeletal myopathy +7 more	GUncertain significance
Select item 1513075	NM_000540.3(RYR1):c.4853G>A (p.Arg1618His)	RYR1 (R1618H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1510671	NM_152263.4(TPM3):c.44A>T (p.Asp15Val)	TPM3 (D15V)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely pathogenic
Select item 1509002	NM_000540.3(RYR1):c.13168G>A (p.Glu4390Lys)	RYR1 (E4385K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 1508214	NM_152263.4(TPM3):c.86A>C (p.Glu29Ala)	TPM3 (E29A)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 1504303	NM_152263.4(TPM3):c.844A>G (p.Met282Val)	TPM3 (M245V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 1501089	NM_000540.3(RYR1):c.7039G>A (p.Glu2347Lys)	RYR1 (E2347K)	Single nucleotide variant (missense variant)	RYR1-related disorder +5 more	GUncertain significance
Select item 1492829	NM_000257.4(MYH7):c.2551T>A (p.Ser851Thr)	LOC126861898, MYH7 (S851T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 1492576	NM_000540.3(RYR1):c.4258C>T (p.Arg1420Cys)	RYR1 (R1420C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance

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