TPM2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 548556	NM_213674.1(TPM2):c.826C>G (p.Gln276Glu)	TPM2 (Q276E)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +2 more	GUncertain significance
Select item 930422	NM_213674.1(TPM2):c.776C>G (p.Thr259Ser)	TPM2 (T259S)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 1299603	NM_213674.1(TPM2):c.773-2A>C	TPM2	Single nucleotide variant (splice acceptor variant)	Congenital myopathy 23	GLikely pathogenic
Select item 1245838	NM_213674.1(TPM2):c.773-95C>G	TPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269529	NM_213674.1(TPM2):c.773-136A>T	TPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193556	NM_213674.1(TPM2):c.773-137A>G	TPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205261	NM_213674.1(TPM2):c.773-187C>T	TPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659178	NM_213674.1(TPM2):c.773-710G>A	TPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1879734	NM_213674.1(TPM2):c.773-719G>A	TPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 914860	NM_003289.4(TPM2):c.*199C>T	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Arthrogryposis, distal, type 1A +1 more	GUncertain significance
Select item 914861	NM_003289.4(TPM2):c.*194C>T	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 23 +1 more	GUncertain significance
Select item 366765	NM_003289.4(TPM2):c.*99A>G	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 23 +1 more	GUncertain significance
Select item 366766	NM_003289.4(TPM2):c.*25A>C	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 23 +1 more	GConflicting classifications of pathogenicity
Select item 912915	NM_003289.4(TPM2):c.*22C>A	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 23 +1 more	GUncertain significance
Select item 94122	NM_003289.4(TPM2):c.*8G>A	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 23 +2 more	GBenign
Select item 94121	NM_003289.4(TPM2):c.*7C>T	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Arthrogryposis, distal, type 1A +2 more	GBenign
Select item 703371	NM_003289.4(TPM2):c.846C>A (p.Thr282=)	TPM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 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 857847	NM_003289.4(TPM2):c.830C>T (p.Ala277Val)	TPM2 (A277V)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2161599	NM_003289.4(TPM2):c.829G>A (p.Ala277Thr)	TPM2 (A277T)	Single nucleotide variant (intron variant +1 more)	Arthrogryposis, distal, type 1A	GUncertain significance
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 366767	NM_003289.4(TPM2):c.813C>T (p.Ser271=)	TPM2	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy 23 +1 more	GBenign/Likely benign
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 977300	NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)	TPM2 (Y261C)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 1A +3 more	GPathogenic/Likely pathogenic
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 452088	NM_003289.4(TPM2):c.773A>T (p.Asp258Val)	TPM2 (D258V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2573502	NM_003289.4(TPM2):c.773-3_773-2insCA	TPM2	Insertion (intron variant)	not specified	GUncertain significance
Select item 366768	NM_003289.4(TPM2):c.773-5_773-3dup	TPM2	Duplication (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 94125	NM_003289.4(TPM2):c.773-4_773-3dup	TPM2	Duplication (intron variant)	Arthrogryposis, distal, type 1A +3 more	GBenign/Likely benign
Select item 94124	NM_003289.4(TPM2):c.773-3dup	TPM2	Duplication (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 366769	NM_003289.4(TPM2):c.773-4_773-3insA	TPM2	Insertion (intron variant)	Arthrogryposis multiplex congenita +3 more	GBenign/Likely benign
Select item 167742	NM_003289.4(TPM2):c.773-3del	TPM2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 140496	NM_003289.4(TPM2):c.773-3C>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A +1 more	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 1028593	NM_003289.4(TPM2):c.773-5C>G	TPM2	Single nucleotide variant (intron variant)	Congenital myopathy 23	GUncertain significance
Select item 2191724	NM_003289.4(TPM2):c.773-7_773-6insCG	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 3030488	NM_003289.4(TPM2):c.773-9_773-8insCG	TPM2	Insertion (intron variant)	TPM2-related disorder	GLikely benign
Select item 1424239	NM_003289.4(TPM2):c.773-9_773-8insA	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1302243	NM_003289.4(TPM2):c.773-9_773-8insCA	TPM2	Insertion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 713714	NM_003289.4(TPM2):c.773-9_773-8insG	TPM2	Insertion (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 1607199	NM_003289.4(TPM2):c.773-10_773-9insG	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1494530	NM_003289.4(TPM2):c.773-10_773-9insCG	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A +1 more	GConflicting classifications of pathogenicity
Select item 1944146	NM_003289.4(TPM2):c.773-11dup	TPM2	Duplication (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
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 1637643	NM_003289.4(TPM2):c.773-19C>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1200675	NM_003289.4(TPM2):c.773-140C>T	TPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670798	NM_003289.4(TPM2):c.773-235G>C	TPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185854	NM_003289.4(TPM2):c.772+278T>C	TPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 810373	NM_003289.4(TPM2):c.765C>T (p.Asp255=)	TPM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 913283	NM_003289.4(TPM2):c.760G>A (p.Asp254Asn)	TPM2 (D254N)	Single nucleotide variant (missense variant)	Congenital myopathy 23 +1 more	GUncertain significance
Select item 391927	NM_003289.4(TPM2):c.759C>T (p.Ile253=)	TPM2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1006848	NM_003289.4(TPM2):c.757A>G (p.Ile253Val)	TPM2 (I253V)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	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 528394	NM_003289.4(TPM2):c.747G>A (p.Leu249=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
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 2173480	NM_003289.4(TPM2):c.735T>A (p.Ser245=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 458727	NM_003289.4(TPM2):c.729G>A (p.Glu243=)	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 289926	NM_003289.4(TPM2):c.726C>T (p.Ala242=)	TPM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 444769	NM_003289.4(TPM2):c.713G>T (p.Arg238Leu)	TPM2 (R238L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 632041	NM_003289.4(TPM2):c.712C>T (p.Arg238Ter)	TPM2 (R238*)	Single nucleotide variant (nonsense)	TPM2-related disorder	GUncertain significance
Select item 458726	NM_003289.4(TPM2):c.703-3dup	TPM2	Duplication (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1902043	NM_003289.4(TPM2):c.703-5C>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1150577	NM_003289.4(TPM2):c.703-9T>C	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 682810	NM_003289.4(TPM2):c.702+60C>T	TPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945652	NM_003289.4(TPM2):c.702+17A>C	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 140495	NM_003289.4(TPM2):c.699G>T (p.Lys233Asn)	TPM2 (K233N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 854258	NM_003289.4(TPM2):c.679C>G (p.Leu227Val)	TPM2 (L227V)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
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 1103680	NM_003289.4(TPM2):c.669G>A (p.Glu223=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1100358	NM_003289.4(TPM2):c.666A>G (p.Glu222=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1559837	NM_003289.4(TPM2):c.663T>C (p.Tyr221=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 632042	NM_003289.4(TPM2):c.663T>A (p.Tyr221Ter)	TPM2 (Y221*)	Single nucleotide variant (nonsense)	Arthrogryposis, distal, type 1A +1 more	GConflicting classifications of pathogenicity
Select item 2437200	NM_003289.4(TPM2):c.660del (p.Lys220fs)	TPM2 (K220fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 140494	NM_003289.4(TPM2):c.651AGA[1] (p.Glu218del)	TPM2 (E218del)	Microsatellite (inframe_deletion)	not provided	Gnot provided
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 1095006	NM_003289.4(TPM2):c.645C>T (p.Ser215=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
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 810374	NM_003289.4(TPM2):c.640-4A>G	TPM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1655233	NM_003289.4(TPM2):c.640-19GT[6]	TPM2	Microsatellite (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1542111	NM_003289.4(TPM2):c.640-9C>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1564931	NM_003289.4(TPM2):c.640-15G>A	TPM2	Single nucleotide variant (intron 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 1577939	NM_003289.4(TPM2):c.640-18dup	TPM2	Duplication (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1616014	NM_003289.4(TPM2):c.640-19G>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
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 1215470	NM_003289.4(TPM2):c.640-34C>T	TPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199530	NM_003289.4(TPM2):c.639+33G>T	TPM2	Single nucleotide variant (intron variant)	not provided	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 1138380	NM_003289.4(TPM2):c.639+10A>G	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1945785	NM_003289.4(TPM2):c.639+6G>C	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 458725	NM_003289.4(TPM2):c.635A>G (p.Asp212Gly)	TPM2 (D212G)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 528396	NM_003289.4(TPM2):c.633G>A (p.Ala211=)	TPM2	Single nucleotide variant (synonymous variant +1 more)	Arthrogryposis, distal, type 1A	GLikely benign
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 816832	NM_003289.4(TPM2):c.620_631dup (p.Gln210_Ala211insValGluAlaGln)	TPM2	Duplication (inframe_insertion +1 more)	Arthrogryposis, distal, type 1A	GPathogenic

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