ClinVar for Gene (Select 7170) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 385

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338267	NM_152263.4(TPM3):c.41T>G (p.Leu14Ter)	TPM3 (L14*)	Single nucleotide variant (nonsense +1 more)	Congenital myopathy 4B, autosomal recessive	GLikely pathogenic
Select item 3251966	NM_152263.4(TPM3):c.458_459insTAG (p.Lys153delinsAsnArg)	TPM3	Insertion (inframe_indel +1 more)	Congenital myopathy 4A, autosomal dominant	GUncertain significance
Select item 3251079	NM_152263.4(TPM3):c.810C>T (p.Ala270=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3247808	NC_000001.10:g.(?_153782653)_(154580482_?)dup	ADAR, AQP10 +20 more	Duplication	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
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 3068321	NM_152263.4(TPM3):c.723G>C (p.Glu241Asp)	TPM3 (E114D +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4A, autosomal dominant	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062900	GRCh37/hg19 1q21.3(chr1:154089394-154912611)x3	ADAR, AQP10 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3051428	NM_152263.4(TPM3):c.642+10G>T	TPM3	Single nucleotide variant (intron variant)	TPM3-related disorder	GLikely benign
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 2882127	NM_152263.4(TPM3):c.138del (p.Met47fs)	TPM3 (M47fs)	Deletion (frameshift variant +1 more)	Congenital myopathy 4A, autosomal dominant	GPathogenic
Select item 2690258	NM_152263.4(TPM3):c.18G>T (p.Lys6Asn)	TPM3 (K6N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690257	NM_152263.4(TPM3):c.544G>A (p.Glu182Lys)	TPM3 (E145K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2639368	NM_152263.4(TPM3):c.123G>T (p.Glu41Asp)	TPM3 (E41D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2639367	NM_152263.4(TPM3):c.636G>A (p.Ala212=)	TPM3	Single nucleotide variant (intron variant +1 more)	Congenital myopathy 4B, autosomal recessive +2 more	GLikely benign
Select item 2621836	NM_152263.4(TPM3):c.400C>T (p.Arg134Trp)	TPM3 (R134W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585332	NM_152263.4(TPM3):c.175G>A (p.Asp59Asn)	TPM3 (D59N)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4B, autosomal recessive	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2443942	NM_152263.4(TPM3):c.445C>A (p.Leu149Ile)	TPM3 (L149I +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4A, autosomal dominant	GPathogenic
Select item 2437211	NM_152263.4(TPM3):c.795A>T (p.Lys265Asn)	TPM3 (K228N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437210	NM_152263.4(TPM3):c.715C>G (p.Arg239Gly)	TPM3 (R112G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437209	NM_152263.4(TPM3):c.297G>C (p.Glu99Asp)	TPM3 (E62D +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2437208	NM_152263.4(TPM3):c.661A>C (p.Lys221Gln)	TPM3 (K118Q +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2437207	NM_152263.4(TPM3):c.236C>T (p.Ala79Val)	TPM3 (A79V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437206	NM_152263.4(TPM3):c.815G>A (p.Ser272Asn)	TPM3 (S235N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437205	NM_152263.4(TPM3):c.560C>G (p.Ala187Gly)	TPM3 (A150G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434217	NM_152263.4(TPM3):c.39del (p.Lys13fs)	TPM3 (K13fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
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 2425513	NC_000001.10:g.(?_153963273)_(154580482_?)del	ADAR, AQP10 +13 more	Deletion	Kostmann syndrome	GPathogenic
Select item 2302273	NM_152263.4(TPM3):c.64C>T (p.Arg22Trp)	TPM3 (R22W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 4B, autosomal recessive +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 1709789	NM_152263.4(TPM3):c.8A>G (p.Glu3Gly)	TPM3 (E3G)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4B, autosomal recessive	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 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 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 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

<< First< Prev

Page of 4