ClinVar for Gene (Select 7072) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372426	NM_022173.4(TIA1):c.10G>C (p.Glu4Gln)	TIA1 (E4Q)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3365234	NM_022173.4(TIA1):c.857A>C (p.Glu286Ala)	TIA1 (E146A +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340977	NM_022173.4(TIA1):c.-13G>A	TIA1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3339858	NM_022173.4(TIA1):c.315T>C (p.His105=)	TIA1 (I147T)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 3339635	NM_022173.4(TIA1):c.524G>A (p.Arg175Lys)	TIA1 (R127K +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257334	NM_022173.4(TIA1):c.1124C>T (p.Pro375Leu)	TIA1 (P234L +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 3062658	GRCh37/hg19 2p14-13.3(chr2:67702012-70506257)x1	AAK1, ANTXR1 +24 more	Copy number loss	not specified	GUncertain significance
Select item 3023854	NM_022173.4(TIA1):c.159T>G (p.Phe53Leu)	TIA1 (F16L +3 more)	Single nucleotide variant (missense variant +2 more)	Welander distal myopathy	GUncertain significance
Select item 3021020	NM_022173.4(TIA1):c.406C>T (p.Arg136Ter)	TIA1 (R60* +7 more)	Single nucleotide variant (nonsense +3 more)	Welander distal myopathy	GUncertain significance
Select item 3020904	NM_022173.4(TIA1):c.680-16G>T	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 3001324	NM_022173.4(TIA1):c.125C>T (p.Thr42Ile)	TIA1 (T44I +3 more)	Single nucleotide variant (missense variant +2 more)	Welander distal myopathy	GUncertain significance
Select item 2996212	NM_022173.4(TIA1):c.652T>C (p.Cys218Arg)	TIA1 (C170R +8 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	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 2983826	NM_022173.4(TIA1):c.159T>C (p.Phe53=)	TIA1	Single nucleotide variant (synonymous variant +2 more)	Welander distal myopathy	GLikely benign
Select item 2973592	NM_022173.4(TIA1):c.690G>A (p.Met230Ile)	TIA1 (M193I +8 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
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 2909343	NM_022173.4(TIA1):c.7G>A (p.Asp3Asn)	TIA1 (D3N)	Single nucleotide variant (missense variant +3 more)	Welander distal myopathy	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 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 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 2895902	NM_022173.4(TIA1):c.123+15C>G	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2891362	NM_022173.4(TIA1):c.384A>G (p.Pro128=)	TIA1	Single nucleotide variant (synonymous variant +3 more)	Welander distal myopathy	GLikely benign
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 2860499	NM_022173.4(TIA1):c.399-19T>G	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2856597	NM_022173.4(TIA1):c.680-7C>G	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2829158	NM_022173.4(TIA1):c.223-15A>T	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2811461	NM_022173.4(TIA1):c.447T>C (p.Tyr149=)	TIA1	Single nucleotide variant (synonymous variant +2 more)	Welander distal myopathy	GLikely benign
Select item 2792567	NM_022173.4(TIA1):c.302G>A (p.Arg101His)	TIA1 (R64H +2 more)	Single nucleotide variant (missense variant +3 more)	Welander distal myopathy	GUncertain significance
Select item 2776727	NM_022173.4(TIA1):c.124-1G>A	TIA1	Single nucleotide variant (splice acceptor variant)	Welander distal myopathy	GUncertain significance
Select item 2761023	NM_022173.4(TIA1):c.456C>T (p.Val152=)	TIA1	Single nucleotide variant (non-coding transcript variant +2 more)	Welander distal myopathy	GLikely benign
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 2754900	NM_022173.4(TIA1):c.634A>G (p.Ser212Gly)	TIA1 (S136G +8 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 2754653	NM_022173.4(TIA1):c.889-17T>C	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
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
Select item 2739318	NM_022173.4(TIA1):c.27-11T>C	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2732126	NM_022173.4(TIA1):c.399-14G>T	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2731290	NM_022173.4(TIA1):c.223-4T>G	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2725252	NM_022173.4(TIA1):c.223-14T>A	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2720799	NM_022173.4(TIA1):c.324C>T (p.Val108=)	TIA1 (S150F)	Single nucleotide variant (synonymous variant +3 more)	Welander distal myopathy	GLikely benign
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 2713157	NM_022173.4(TIA1):c.680-5A>G	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2710695	NM_022173.4(TIA1):c.45C>T (p.Ser15=)	TIA1	Single nucleotide variant (synonymous variant +3 more)	Welander distal myopathy	GLikely benign
Select item 2706547	NM_022173.4(TIA1):c.764+16_764+17insTGGTTTTTTTTTTTTTTTTTTNNNNNNNNNNNCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	TIA1	Microsatellite (3 prime UTR variant +1 more)	Welander distal myopathy	GUncertain significance
Select item 2703321	NM_022173.4(TIA1):c.27-13C>T	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2690235	NM_022173.4(TIA1):c.487G>A (p.Ala163Thr)	TIA1 (A115T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2672817	NM_022173.4(TIA1):c.559C>T (p.Pro187Ser)	TIA1 (P111S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663298	NM_022173.4(TIA1):c.27-3C>T	TIA1	Single nucleotide variant (intron variant)	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 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2498823	NM_022173.4(TIA1):c.26+2_26+3del	TIA1	Microsatellite (intron variant +1 more)	not provided	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 2437091	NM_022173.4(TIA1):c.272C>A (p.Thr91Lys)	TIA1 (T26K +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2437090	NM_022173.4(TIA1):c.223-3T>C	TIA1	Single nucleotide variant (intron variant)	not provided	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 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 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 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 2437085	NM_022173.4(TIA1):c.356C>A (p.Thr119Asn)	TIA1 (L161M +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 2437083	NM_022173.4(TIA1):c.313C>T (p.His105Tyr)	TIA1 (H105Y +7 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 2428208	NM_022173.4(TIA1):c.31G>A (p.Val11Ile)	TIA1 (V11I)	Single nucleotide variant (missense variant +3 more)	Welander distal myopathy	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2426739	NC_000002.11:g.(?_70439851)_(70475562_?)dup	TIA1	Duplication	Welander distal myopathy	GUncertain significance
Select item 2300471	NM_022173.4(TIA1):c.548C>T (p.Thr183Ile)	TIA1 (T107I +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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 2182944	NM_022173.4(TIA1):c.223-6_223-3del	TIA1	Deletion (intron variant)	Welander distal myopathy	GUncertain significance
Select item 2172198	NM_022173.4(TIA1):c.1035-13C>T	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2155093	NM_022173.4(TIA1):c.889-15A>G	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2150473	NM_022173.4(TIA1):c.223-5_223-3del	TIA1	Deletion (intron variant)	Welander distal myopathy	GBenign
Select item 2143753	NM_022173.4(TIA1):c.26+17G>A	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2127764	NM_022173.4(TIA1):c.311-20C>T	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2112168	NM_022173.4(TIA1):c.397T>C (p.Ser133Pro)	TIA1 (S87P +7 more)	Single nucleotide variant (missense variant +3 more)	Welander distal myopathy	GUncertain significance
Select item 2106458	NM_022173.4(TIA1):c.1035-8T>C	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2102043	NM_022173.4(TIA1):c.378T>C (p.Phe126=)	TIA1	Single nucleotide variant (synonymous variant +3 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 2086910	NM_022173.4(TIA1):c.264G>A (p.Lys88=)	TIA1	Single nucleotide variant (synonymous variant +2 more)	Welander distal myopathy	GLikely benign
Select item 2084029	NM_022173.4(TIA1):c.222+11G>A	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 2079975	NM_022173.4(TIA1):c.584-14T>A	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GUncertain significance
Select item 2076885	NM_022173.4(TIA1):c.362A>G (p.Asp121Gly)	TIA1 (D110G +8 more)	Single nucleotide variant (missense variant +2 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 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 2044838	NM_022173.4(TIA1):c.272C>G (p.Thr91Arg)	TIA1 (T91R +4 more)	Single nucleotide variant (missense variant +2 more)	Welander distal myopathy	GUncertain significance
Select item 2041072	NM_022173.4(TIA1):c.486C>T (p.Asn162=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	Welander distal myopathy	GLikely benign
Select item 2025337	NM_022173.4(TIA1):c.475-11G>T	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GUncertain significance
Select item 2021329	NM_022173.4(TIA1):c.3G>A (p.Met1Ile)	TIA1 (M1I)	Single nucleotide variant (missense variant +4 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 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 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 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 2009117	NM_022173.4(TIA1):c.310+14_310+16del	TIA1	Microsatellite (intron variant)	Welander distal myopathy	GLikely benign
Select item 2006915	NM_022173.4(TIA1):c.183_194del (p.Ala62_Ala65del)	TIA1	Deletion (inframe_deletion +2 more)	Welander distal myopathy	GUncertain significance
Select item 2001214	NM_022173.4(TIA1):c.584-20_584-19del	TIA1	Deletion (intron variant)	Welander distal myopathy	GLikely benign
Select item 1985865	NM_022173.4(TIA1):c.680-22_680-19del	TIA1	Microsatellite (intron variant)	Welander distal myopathy	GLikely benign
Select item 1983462	NM_022173.4(TIA1):c.223-16A>C	TIA1	Single nucleotide variant (intron variant)	Welander distal myopathy	GLikely benign
Select item 1982470	NM_022173.4(TIA1):c.301C>A (p.Arg101Ser)	TIA1 (R64S +2 more)	Single nucleotide variant (missense variant +3 more)	Welander distal myopathy	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

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