"GeneDx"[submitter] AND "TPM2"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 94122	NM_003289.4(TPM2):c.*8G>A	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 94121	NM_003289.4(TPM2):c.*7C>T	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 703371	NM_003289.4(TPM2):c.846C>A (p.Thr282=)	TPM2	Single nucleotide variant (synonymous variant +1 more)	Arthrogryposis, distal, type 1A +1 more	GLikely benign
Select item 977300	NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)	TPM2 (Y261C)	Single nucleotide variant (missense variant +1 more)	TPM2-related myopathy +3 more	GPathogenic/Likely pathogenic
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 366768	NM_003289.4(TPM2):c.773-5_773-3dup	TPM2	Duplication (intron variant)	Arthrogryposis, distal, type 1A +4 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)	Nemaline Myopathy, Dominant +4 more	GBenign/Likely benign
Select item 366769	NM_003289.4(TPM2):c.773-4_773-3insA	TPM2	Insertion (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 167742	NM_003289.4(TPM2):c.773-3del	TPM2	Deletion (intron variant)	Arthrogryposis, distal, type 1A +1 more	GConflicting classifications of pathogenicity
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 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 391927	NM_003289.4(TPM2):c.759C>T (p.Ile253=)	TPM2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 289926	NM_003289.4(TPM2):c.726C>T (p.Ala242=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A +2 more	GConflicting classifications of pathogenicity
Select item 682810	NM_003289.4(TPM2):c.702+60C>T	TPM2	Single nucleotide variant (intron variant)	not provided	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 1307765	NM_003289.4(TPM2):c.565A>G (p.Lys189Glu)	TPM2 (K189E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 366770	NM_003289.4(TPM2):c.564-9C>T	TPM2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 421060	NM_003289.4(TPM2):c.564-18dup	TPM2	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 94123	NM_003289.4(TPM2):c.564-19dup	TPM2	Duplication (intron variant)	not specified +1 more	GBenign
Select item 451466	NM_003289.4(TPM2):c.563+165T>C	TPM2 (M200T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 516691	NM_003289.4(TPM2):c.563+17G>A	TPM2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 3367960	NM_003289.4(TPM2):c.559G>A (p.Glu187Lys)	TPM2 (E187K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 3340416	NM_003289.4(TPM2):c.541G>A (p.Glu181Lys)	TPM2 (E181K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 515424	NM_003289.4(TPM2):c.493-7C>A	TPM2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 197751	NM_003289.4(TPM2):c.493-11_493-8del	TPM2	Deletion (intron variant)	Arthrogryposis, distal, type 1A +1 more	GBenign/Likely benign
Select item 1213473	NM_003289.4(TPM2):c.492+37C>T	TPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 569587	NM_003289.4(TPM2):c.463G>A (p.Ala155Thr)	TPM2 (A155T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 426412	NM_003289.4(TPM2):c.459C>G (p.His153Gln)	TPM2 (H153Q)	Single nucleotide variant (missense variant)	not provided	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 12463	NM_003289.4(TPM2):c.397C>T (p.Arg133Trp)	TPM2 (R133W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 861756	NM_003289.4(TPM2):c.388_390dup (p.Ile130dup)	TPM2	Duplication (inframe_insertion)	Arthrogryposis, distal, type 1A +1 more	GUncertain significance
Select item 577391	NM_003289.4(TPM2):c.382A>G (p.Lys128Glu)	TPM2 (K128E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 259037	NM_003289.4(TPM2):c.375-25C>T	TPM2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1311168	NM_003289.4(TPM2):c.372G>C (p.Glu124Asp)	TPM2 (E124D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12462	NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)	TPM2 (E117K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 451987	NM_003289.4(TPM2):c.320del (p.Ala107fs)	TPM2 (A107fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1313703	NM_003289.4(TPM2):c.302G>A (p.Arg101Gln)	TPM2 (R101Q)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A +1 more	GUncertain significance
Select item 259036	NM_003289.4(TPM2):c.300C>T (p.Asp100=)	TPM2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 682500	NM_003289.4(TPM2):c.295C>T (p.Leu99=)	TPM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 372795	NM_003289.4(TPM2):c.279G>C (p.Gln93His)	TPM2 (Q93H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 140490	NM_003289.4(TPM2):c.278A>G (p.Gln93Arg)	TPM2 (Q93R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3363405	NM_003289.4(TPM2):c.262C>G (p.Leu88Val)	TPM2 (L88V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371250	NM_003289.4(TPM2):c.257C>T (p.Ala86Val)	TPM2 (A86V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 672294	NM_003289.4(TPM2):c.240+208C>T	TPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200066	NM_003289.4(TPM2):c.240+161A>G	TPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 423115	NM_003289.4(TPM2):c.240+4_240+5del	TPM2	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 570985	NM_003289.4(TPM2):c.230A>G (p.Lys77Arg)	TPM2 (K77R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 512856	NM_003289.4(TPM2):c.225G>A (p.Glu75=)	TPM2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 452383	NM_003289.4(TPM2):c.210del (p.Lys70fs)	TPM2 (K70fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 140484	NM_003289.4(TPM2):c.115-105A>G	TPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 498119	NM_003289.4(TPM2):c.81C>T (p.Ala27=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A +1 more	GConflicting classifications of pathogenicity
Select item 450194	NM_003289.4(TPM2):c.70C>T (p.Gln24Ter)	TPM2 (Q24*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3368026	NM_003289.4(TPM2):c.51C>G (p.Asn17Lys)	TPM2 (N17K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306867	NM_003289.4(TPM2):c.20AGATGC[3] (p.Gln9_Met10dup)	TPM2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 140486	NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del)	TPM2 (K7del)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic
Select item 387655	NM_003289.4(TPM2):c.-4A>G	TPM2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 670242	NM_213674.1(TPM2):c.-135T>A	TPM2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 670241	NM_213674.1(TPM2):c.-136T>A	TPM2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 670240	NM_213674.1(TPM2):c.-137T>A	TPM2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 679869	NM_003289.3(TPM2):c.-288T>C	TPM2	Single nucleotide variant	not provided	GBenign
Select item 667555	NM_003289.3(TPM2):c.-496G>A	TPM2	Single nucleotide variant	not provided	GBenign
Select item 674229	NM_003289.3(TPM2):c.-544G>A	TPM2	Single nucleotide variant	not provided	GLikely benign
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 76