ClinVar for MedGen (Select 113099) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Arthrogryposis, distal, type 1A +1 more	GConflicting classifications of pathogenicity
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 2434210	NM_003289.4(TPM2):c.220del (p.Ala74fs)	TPM2 (A74fs)	Deletion (frameshift variant)	Arthrogryposis, distal, type 1A +1 more	GPathogenic/Likely pathogenic
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	ANKRD18B, APTX +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 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 (intron 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
Select item 1974294	NM_003289.4(TPM2):c.272G>A (p.Arg91His)	TPM2 (R91H)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 1972732	NM_003289.4(TPM2):c.374+16G>C	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1971910	NM_003289.4(TPM2):c.52G>A (p.Ala18Thr)	TPM2 (A18T)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
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 1945652	NM_003289.4(TPM2):c.702+17A>C	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1944758	NM_003289.4(TPM2):c.379A>G (p.Met127Val)	TPM2 (M127V)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 1944146	NM_003289.4(TPM2):c.773-11dup	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 1686270	NM_003289.4(TPM2):c.394_396dup (p.Asn132dup)	TPM2	Duplication (inframe_insertion)	Arthrogryposis, distal, type 1A	GPathogenic
Select item 1669944	NM_003289.4(TPM2):c.563+12C>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1669237	NM_003289.4(TPM2):c.564-6dup	TPM2	Duplication (intron variant)	Arthrogryposis, distal, type 1A	GBenign
Select item 1656762	NM_003289.4(TPM2):c.318G>A (p.Leu106=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1655233	NM_003289.4(TPM2):c.640-19GT[6]	TPM2	Microsatellite (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1653500	NM_003289.4(TPM2):c.492+9C>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1651957	NM_003289.4(TPM2):c.69G>A (p.Glu23=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1650599	NM_003289.4(TPM2):c.563+13G>C	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 1635878	NM_003289.4(TPM2):c.564-19C>G	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1632708	NM_003289.4(TPM2):c.114+10G>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A +1 more	GLikely benign
Select item 1625164	NM_003289.4(TPM2):c.374+16G>A	TPM2	Single nucleotide variant (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 1615663	NM_003289.4(TPM2):c.450G>A (p.Glu150=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1610748	NM_003289.4(TPM2):c.374+15C>T	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 1605281	NM_003289.4(TPM2):c.462C>T (p.Ile154=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1600025	NM_003289.4(TPM2):c.563+18T>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GBenign
Select item 1599464	NM_003289.4(TPM2):c.564-19del	TPM2	Deletion (intron variant)	Arthrogryposis, distal, type 1A	GBenign
Select item 1595876	NM_003289.4(TPM2):c.564-18_564-17insA	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1595553	NM_003289.4(TPM2):c.18G>A (p.Lys6=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A +1 more	GLikely benign
Select item 1589996	NM_003289.4(TPM2):c.564-18G>C	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1586150	NM_003289.4(TPM2):c.180T>C (p.Tyr60=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1583010	NM_003289.4(TPM2):c.618C>A (p.Ser206=)	TPM2	Single nucleotide variant (synonymous variant +1 more)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1578865	NM_003289.4(TPM2):c.493-10C>T	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 1576142	NM_003289.4(TPM2):c.234C>T (p.Ala78=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1571534	NM_003289.4(TPM2):c.426A>G (p.Glu142=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1565934	NM_003289.4(TPM2):c.564-20_564-19dup	TPM2	Duplication (intron variant)	Congenital myopathy with fiber type disproportion +2 more	GBenign/Likely 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 1559837	NM_003289.4(TPM2):c.663T>C (p.Tyr221=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign

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