ClinVar for Gene (Select 7169) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349789	NM_003289.4(TPM2):c.223G>T (p.Glu75Ter)	TPM2 (E75*)	Single nucleotide variant (nonsense)	TPM2-related disorder	GUncertain significance
Select item 3345955	NM_003289.4(TPM2):c.563+202_563+203dup	TPM2 (E213fs)	Duplication (frameshift variant +1 more)	TPM2-related disorder	GUncertain significance
Select item 3340416	NM_003289.4(TPM2):c.541G>A (p.Glu181Lys)	TPM2 (E181K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337683	NM_003289.4(TPM2):c.520G>A (p.Gly174Arg)	TPM2 (G174R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3328290	NM_003289.4(TPM2):c.134C>T (p.Ala45Val)	TPM2 (A45V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	GUncertain significance
Select item 3245096	NC_000009.11:g.(?_35683156)_(35689814_?)dup	TPM2	Duplication	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3242301	GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1	ALDH1B1, ANKRD18A +45 more	Copy number loss	not provided	GPathogenic
Select item 3233245	NM_003289.4(TPM2):c.5A>G (p.Asp2Gly)	TPM2 (D2G)	Single nucleotide variant (missense variant)	Nemaline myopathy	GLikely pathogenic
Select item 3181545	NM_003289.4(TPM2):c.725C>A (p.Ala242Asp)	TPM2 (A242D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075825	NM_003289.4(TPM2):c.344A>T (p.Glu115Val)	TPM2 (E115V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3030488	NM_003289.4(TPM2):c.773-9_773-8insCG	TPM2	Insertion (intron variant)	TPM2-related disorder	GLikely benign
Select item 3029637	NM_003289.4(TPM2):c.563+175C>T	TPM2	Single nucleotide variant (synonymous variant +1 more)	TPM2-related disorder	GLikely benign
Select item 3027239	NM_003289.4(TPM2):c.524A>G (p.Glu175Gly)	TPM2 (E175G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020912	NM_003289.4(TPM2):c.563+13G>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 3014729	NM_003289.4(TPM2):c.314G>A (p.Arg105His)	TPM2 (R105H)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 3003484	NM_003289.4(TPM2):c.240+15G>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2995439	NM_003289.4(TPM2):c.564-20C>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2989618	NM_003289.4(TPM2):c.563+13G>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2988106	NM_003289.4(TPM2):c.672G>A (p.Glu224=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2979932	NM_003289.4(TPM2):c.640-17G>C	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2955874	NM_003289.4(TPM2):c.563+15G>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2912485	NM_003289.4(TPM2):c.375-12C>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GBenign
Select item 2902885	NM_003289.4(TPM2):c.66C>G (p.Ala22=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2895369	NM_003289.4(TPM2):c.189C>T (p.Ser63=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2894149	NM_003289.4(TPM2):c.374+3G>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2887324	NM_003289.4(TPM2):c.643T>G (p.Ser215Ala)	TPM2 (S215A)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2867091	NM_003289.4(TPM2):c.773-15C>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2824781	NM_003289.4(TPM2):c.619C>T (p.Leu207=)	TPM2	Single nucleotide variant (synonymous variant +1 more)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2816289	NM_003289.4(TPM2):c.485A>T (p.Tyr162Phe)	TPM2 (Y162F)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2815106	NM_003289.4(TPM2):c.577C>G (p.Leu193Val)	TPM2 (L193V)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2811044	NM_003289.4(TPM2):c.196G>A (p.Glu66Lys)	TPM2 (E66K)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2807986	NM_003289.4(TPM2):c.507G>A (p.Leu169=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2800829	NM_003289.4(TPM2):c.220G>A (p.Ala74Thr)	TPM2 (A74T)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2784486	NM_003289.4(TPM2):c.773-5_773-4insT	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2741796	NM_003289.4(TPM2):c.306C>T (p.Ala102=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2716525	NM_003289.4(TPM2):c.104G>T (p.Arg35Leu)	TPM2 (R35L)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2715845	NM_003289.4(TPM2):c.653A>C (p.Glu218Ala)	TPM2 (E218A)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2714804	NM_003289.4(TPM2):c.564-19_564-18insT	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2708821	NM_003289.4(TPM2):c.391G>A (p.Glu131Lys)	TPM2 (E131K)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2674605	NM_003289.4(TPM2):c.13_57dup (p.Ile19_Asp20insLysLysLysMetGlnMetLeuLysLeuAspLysGluAsnAlaIle)	TPM2	Duplication (inframe insertion)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2673174	NM_003289.4(TPM2):c.240T>C (p.Asp80=)	TPM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2664575	NM_003289.4(TPM2):c.563+131C>T	TPM2 (R189*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2663507	NM_003289.4(TPM2):c.539_556dup (p.Val185_Ala186insGluGluArgAlaGluVal)	TPM2	Duplication (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2663287	NM_003289.4(TPM2):c.289G>A (p.Glu97Lys)	TPM2 (E97K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2659180	NM_003289.4(TPM2):c.-10C>G	TPM2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2659179	NM_003289.4(TPM2):c.632C>T (p.Ala211Val)	TPM2 (A211V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2659178	NM_213674.1(TPM2):c.773-710G>A	TPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2634361	NM_003289.4(TPM2):c.836dup (p.Asn279fs)	TPM2 (N279fs)	Duplication (frameshift variant +1 more)	TPM2-related disorder	GLikely pathogenic
Select item 2634029	NM_003289.4(TPM2):c.62_63insGG (p.Glu23fs)	TPM2 (E23fs)	Insertion (frameshift variant)	TPM2-related disorder	GUncertain significance
Select item 2627516	NM_003289.4(TPM2):c.144G>T (p.Lys48Asn)	TPM2 (K48N)	Single nucleotide variant (missense variant)	Congenital myopathy 23	GUncertain significance
Select item 2585480	NM_003289.4(TPM2):c.784G>T (p.Ala262Ser)	TPM2 (A262S)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 23	GUncertain significance
Select item 2573502	NM_003289.4(TPM2):c.773-3_773-2insCA	TPM2	Insertion (intron variant)	not specified	GUncertain significance
Select item 2572813	NM_003289.4(TPM2):c.455A>G (p.Lys152Arg)	TPM2 (K152R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437204	NM_003289.4(TPM2):c.581_585del (p.Glu194fs)	TPM2 (E194fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2437203	NM_003289.4(TPM2):c.743A>T (p.Lys248Met)	TPM2 (K248M)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A +1 more	GUncertain significance
Select item 2437202	NM_003289.4(TPM2):c.755C>T (p.Thr252Ile)	TPM2 (T252I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437201	NM_003289.4(TPM2):c.284T>G (p.Val95Gly)	TPM2 (V95G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437200	NM_003289.4(TPM2):c.660del (p.Lys220fs)	TPM2 (K220fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2437199	NM_003289.4(TPM2):c.170T>G (p.Val57Gly)	TPM2 (V57G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437198	NM_003289.4(TPM2):c.134C>A (p.Ala45Asp)	TPM2 (A45D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434213	NM_003289.4(TPM2):c.492+2T>C	TPM2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2434210	NM_003289.4(TPM2):c.220del (p.Ala74fs)	TPM2 (A74fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2427794	NC_000009.11:g.(?_34370797)_(36276941_?)dup	RGP1, RMRP +51 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	OR13J1, OR2S2 +87 more	Duplication	not provided	GUncertain significance
Select item 2418800	NM_003289.4(TPM2):c.356C>T (p.Ala119Val)	TPM2 (A119V)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2382287	NM_213674.1(TPM2):c.829A>G (p.Thr277Ala)	TPM2 (T277A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200188	NM_003289.4(TPM2):c.564-19C>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2200076	NM_003289.4(TPM2):c.375-13C>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2195148	NM_003289.4(TPM2):c.639+16G>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2191724	NM_003289.4(TPM2):c.773-7_773-6insCG	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2177874	NM_003289.4(TPM2):c.832C>T (p.Leu278Phe)	TPM2 (L278F)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2173480	NM_003289.4(TPM2):c.735T>A (p.Ser245=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2167514	NM_003289.4(TPM2):c.727G>A (p.Glu243Lys)	TPM2 (E243K)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2163664	NM_003289.4(TPM2):c.241-14C>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2162990	NM_003289.4(TPM2):c.773-9C>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2161599	NM_003289.4(TPM2):c.829G>A (p.Ala277Thr)	TPM2 (A277T)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2144494	NM_003289.4(TPM2):c.432G>A (p.Gln144=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2136774	NM_003289.4(TPM2):c.58G>C (p.Asp20His)	TPM2 (D20H)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2108301	NM_003289.4(TPM2):c.115-14C>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2090175	NM_003289.4(TPM2):c.302G>C (p.Arg101Pro)	TPM2 (R101P)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2087628	NM_003289.4(TPM2):c.470A>G (p.Asp157Gly)	TPM2 (D157G)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2086427	NM_003289.4(TPM2):c.301C>T (p.Arg101Trp)	TPM2 (R101W)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2085046	NM_003289.4(TPM2):c.75C>T (p.Ala25=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2077367	NM_003289.4(TPM2):c.562A>T (p.Ser188Cys)	TPM2 (S188C)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2067402	NM_003289.4(TPM2):c.564-20_564-19insT	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2066966	NM_003289.4(TPM2):c.564-19_564-18insA	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2056305	NM_003289.4(TPM2):c.14AGA[1] (p.Lys6_Lys7del)	TPM2	Microsatellite (inframe_deletion)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2023293	NM_003289.4(TPM2):c.640-20C>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2017923	NM_003289.4(TPM2):c.374+9G>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2017054	NM_003289.4(TPM2):c.479G>T (p.Arg160Leu)	TPM2 (R160L)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GLikely pathogenic
Select item 2011179	NM_003289.4(TPM2):c.816G>A (p.Glu272=)	TPM2	Single nucleotide variant (synonymous variant +1 more)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2005137	NM_003289.4(TPM2):c.719A>G (p.Glu240Gly)	TPM2 (E240G)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 1995676	NM_003289.4(TPM2):c.375-11C>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1995192	NM_003289.4(TPM2):c.781T>C (p.Tyr261His)	TPM2 (Y261H)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 1983306	NM_003289.4(TPM2):c.115-16G>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign

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