TIA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 1406976	NM_022173.4(TIA1):c.1157A>C (p.Gln386Pro)	TIA1 (Q245P +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 458837	NM_022173.4(TIA1):c.1156del (p.Gln386fs)	TIA1 (Q246fs +11 more)	Deletion (frameshift variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 41480	NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys)	TIA1 (E384K +11 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 863219	NM_022173.4(TIA1):c.1146G>T (p.Gly382=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	Welander distal myopathy	GLikely benign
Select item 992596	NM_022173.4(TIA1):c.1141G>A (p.Ala381Thr)	TIA1 (A240T +10 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 458836	NM_022173.4(TIA1):c.1122G>A (p.Gln374=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	Welander distal myopathy +1 more	GBenign/Likely benign
Select item 1019780	NM_022173.4(TIA1):c.1118A>G (p.Asn373Ser)	TIA1 (N232S +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 939077	NM_022173.4(TIA1):c.1117A>G (p.Asn373Asp)	TIA1 (N272D +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 834552	NM_022173.4(TIA1):c.1108A>G (p.Met370Val)	TIA1 (M322V +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 2019552	NM_022173.4(TIA1):c.1100dup (p.Asn367fs)	TIA1 (N226fs +11 more)	Duplication (frameshift variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 739583	NM_022173.4(TIA1):c.1101T>C (p.Asn367=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	Welander distal myopathy	GBenign
Select item 936032	NM_022173.4(TIA1):c.1096C>T (p.Gln366Ter)	TIA1 (Q329* +11 more)	Single nucleotide variant (nonsense +1 more)	Welander distal myopathy	GUncertain significance
Select item 448688	NM_022173.4(TIA1):c.1086G>A (p.Pro362=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	Welander distal myopathy +2 more	GBenign/Likely benign
Select item 992595	NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu)	TIA1 (P362L +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy +1 more	GConflicting classifications of pathogenicity
Select item 528489	NM_022173.4(TIA1):c.1082A>C (p.Gln361Pro)	TIA1 (Q361P +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 651295	NM_022173.4(TIA1):c.1078G>A (p.Val360Met)	TIA1 (V312M +11 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1972817	NM_022173.4(TIA1):c.1072T>G (p.Tyr358Asp)	TIA1 (Y217D +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 261567	NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)	TIA1 (N357S +11 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1413240	NM_022173.4(TIA1):c.1059G>T (p.Trp353Cys)	TIA1 (W252C +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 1693815	NM_022173.4(TIA1):c.1040C>T (p.Thr347Ile)	TIA1 (T206I +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2060003	NM_022173.4(TIA1):c.1038G>C (p.Gln346His)	TIA1 (Q334H +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 1635747	NM_022173.4(TIA1):c.1035-6C>A	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 1564800	NM_022173.4(TIA1):c.1035-7C>T	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2106458	NM_022173.4(TIA1):c.1035-8T>C	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 3001635	NM_022173.4(TIA1):c.1035-9C>G	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2172198	NM_022173.4(TIA1):c.1035-13C>T	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 1532155	NM_022173.4(TIA1):c.1035-14A>G	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 1543037	NM_022173.4(TIA1):c.1035-20T>G	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 1239779	NM_022173.4(TIA1):c.1034+149dup	TIA1	Duplication (intron variant)	not provided	GBenign
Select item 1230896	NM_022173.4(TIA1):c.1034+120C>T	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1641016	NM_022173.4(TIA1):c.1034+20T>C	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 1110251	NM_022173.4(TIA1):c.1032T>C (p.Phe344=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	Welander distal myopathy	GLikely benign
Select item 2437086	NM_022173.4(TIA1):c.1024C>G (p.Gln342Glu)	TIA1 (Q201E +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1045764	NM_022173.4(TIA1):c.1006G>A (p.Gly336Ser)	TIA1 (G196S +11 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2203078	NM_022173.4(TIA1):c.1002G>A (p.Met334Ile)	TIA1 (M193I +11 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 934669	NM_022173.4(TIA1):c.992C>T (p.Ala331Val)	TIA1 (A255V +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy +1 more	GUncertain significance
Select item 2437092	NM_022173.4(TIA1):c.991G>A (p.Ala331Thr)	TIA1 (A190T +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2757596	NM_022173.4(TIA1):c.985G>T (p.Val329Phe)	TIA1 (V188F +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 1415606	NM_022173.4(TIA1):c.985G>A (p.Val329Ile)	TIA1 (V317I +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 2882050	NM_022173.4(TIA1):c.978T>A (p.Gly326=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	Welander distal myopathy	GLikely benign
Select item 458844	NM_022173.4(TIA1):c.978T>C (p.Gly326=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	Welander distal myopathy	GBenign
Select item 839978	NM_022173.4(TIA1):c.971C>G (p.Pro324Arg)	TIA1 (P287R +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 2068503	NM_022173.4(TIA1):c.970C>T (p.Pro324Ser)	TIA1 (P312S +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 261569	NM_022173.4(TIA1):c.953A>G (p.Gln318Arg)	TIA1 (Q318R +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy +2 more	GBenign/Likely benign
Select item 1101932	NM_022173.4(TIA1):c.951A>G (p.Gln317=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	Welander distal myopathy	GLikely benign
Select item 458843	NM_022173.4(TIA1):c.947C>G (p.Ala316Gly)	TIA1 (A316G +11 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2910845	NM_022173.4(TIA1):c.938A>G (p.Tyr313Cys)	TIA1 (Y173C +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 2202616	NM_022173.4(TIA1):c.936G>T (p.Trp312Cys)	TIA1 (W172C +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 1411686	NM_022173.4(TIA1):c.928G>A (p.Gly310Ser)	TIA1 (G299S +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 458842	NM_022173.4(TIA1):c.924G>A (p.Gln308=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	Welander distal myopathy	GBenign
Select item 788229	NM_022173.4(TIA1):c.918T>C (p.Tyr306=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2009675	NM_022173.4(TIA1):c.914C>G (p.Pro305Arg)	TIA1 (P164R +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 1058761	NM_022173.4(TIA1):c.913C>T (p.Pro305Ser)	TIA1 (P164S +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 2012551	NM_022173.4(TIA1):c.902G>T (p.Gly301Val)	TIA1 (G200V +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 1963210	NM_022173.4(TIA1):c.889C>G (p.Gln297Glu)	TIA1 (Q196E +8 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Welander distal myopathy	GUncertain significance
Select item 3067925	NM_022173.4(TIA1):c.889-1G>A	TIA1	Single nucleotide variant (splice acceptor variant +1 more)	Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia	GUncertain significance
Select item 1163214	NM_022173.4(TIA1):c.889-1G>T	TIA1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2155093	NM_022173.4(TIA1):c.889-15A>G	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2754653	NM_022173.4(TIA1):c.889-17T>C	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 1226160	NM_022173.4(TIA1):c.889-149T>G	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300500	NM_022173.4(TIA1):c.889-152T>G	TIA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300522	NM_022173.4(TIA1):c.889-158_889-157insG	TIA1	Insertion (intron variant)	not provided	GLikely benign
Select item 1234557	NM_022173.4(TIA1):c.889-157T>G	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1698302	NM_022173.4(TIA1):c.889-174T>C	TIA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1712166	NM_022173.4(TIA1):c.888+180A>T	TIA1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2902666	NM_022173.4(TIA1):c.880G>T (p.Val294Leu)	TIA1 (V154L +8 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 1720277	NM_022173.4(TIA1):c.880G>C (p.Val294Leu)	TIA1 (V154L +8 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 575375	NM_022173.4(TIA1):c.880G>A (p.Val294Met)	TIA1 (V294M +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 2437089	NM_022173.4(TIA1):c.879del (p.Val294fs)	TIA1 (V154fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 578669	NM_022173.4(TIA1):c.869T>C (p.Met290Thr)	TIA1 (M290T +8 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 2437087	NM_022173.4(TIA1):c.863T>C (p.Leu288Pro)	TIA1 (L148P +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2539916	NM_022173.4(TIA1):c.862C>G (p.Leu288Val)	TIA1 (L279V +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2192365	NM_022173.4(TIA1):c.852C>G (p.Gly284=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	Welander distal myopathy	GLikely benign
Select item 2092793	NM_022173.4(TIA1):c.850G>C (p.Gly284Arg)	TIA1 (G208R +8 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 1134976	NM_022173.4(TIA1):c.846T>C (p.Tyr282=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	Welander distal myopathy	GLikely benign
Select item 2898227	NM_022173.4(TIA1):c.843C>T (p.Cys281=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	Welander distal myopathy	GLikely benign
Select item 2437088	NM_022173.4(TIA1):c.821T>C (p.Ile274Thr)	TIA1 (I134T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1395636	NM_022173.4(TIA1):c.820A>T (p.Ile274Phe)	TIA1 (I265F +8 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 1006176	NM_022173.4(TIA1):c.805G>A (p.Val269Ile)	TIA1 (V129I +8 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 2437084	NM_022173.4(TIA1):c.803C>T (p.Ser268Phe)	TIA1 (S128F +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1387073	NM_022173.4(TIA1):c.802T>A (p.Ser268Thr)	TIA1 (S192T +8 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 2717041	NM_022173.4(TIA1):c.796A>G (p.Ile266Val)	TIA1 (I165V +8 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 1463953	NM_022173.4(TIA1):c.787G>T (p.Ala263Ser)	TIA1 (A226S +8 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 1028743	NM_022173.4(TIA1):c.775C>A (p.His259Asn)	TIA1 (H119N +8 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 656352	NM_022173.4(TIA1):c.770A>T (p.Asn257Ile)	TIA1 (N117I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2903812	NM_022173.4(TIA1):c.765-14A>G	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 1296192	NM_022173.4(TIA1):c.765-103_765-97del	TIA1	Deletion (intron variant)	not provided	GBenign
Select item 1698301	NM_022173.4(TIA1):c.765-104G>A	TIA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255023	NM_022173.4(TIA1):c.765-166A>G	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296196	NM_022173.4(TIA1):c.764+175A>G	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2706547	NM_022173.4(TIA1):c.764+16_764+17insTGGTTTTTTTTTTTTTTTTTTNNNNNNNNNNNCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	TIA1	Microsatellite (intron variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 1944919	NM_022173.4(TIA1):c.764+10G>T	TIA1	Single nucleotide variant (3 prime UTR variant +1 more)	Welander distal myopathy	GLikely benign
Select item 528491	NM_022173.4(TIA1):c.764+10G>A	TIA1	Single nucleotide variant (3 prime UTR variant +1 more)	Welander distal myopathy	GLikely benign
Select item 871172	NM_022173.4(TIA1):c.763C>G (p.Arg255Gly)	TIA1 (R154G +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2988723	NM_022173.4(TIA1):c.759T>C (p.Phe253=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	Welander distal myopathy	GLikely benign
Select item 2010589	NM_022173.4(TIA1):c.758T>G (p.Phe253Cys)	TIA1 (F177C +8 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 2752029	NM_022173.4(TIA1):c.747A>G (p.Lys249=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	Welander distal myopathy	GLikely benign

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