TOR1AIP1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1190682	NC_000001.11:g.179881717T>C	TOR1AIP1	Single nucleotide variant	not provided	GLikely benign
Select item 1252731	NC_000001.11:g.179882017C>T	TOR1AIP1	Single nucleotide variant	not provided	GBenign
Select item 1221276	NC_000001.11:g.179882027del	TOR1AIP1	Deletion	not provided	GBenign
Select item 1297864	NC_000001.11:g.179882051C>G	TOR1AIP1	Single nucleotide variant	not provided	GBenign
Select item 1175598	NC_000001.11:g.179882173C>T	TOR1AIP1	Single nucleotide variant	not provided	GBenign
Select item 257700	NM_015602.4(TOR1AIP1):c.475+17dup	TOR1AIP1	Duplication (intron variant)	not specified	GLikely benign
Select item 1278149	NM_015602.4(TOR1AIP1):c.475+47G>C	TOR1AIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237534	NM_015602.4(TOR1AIP1):c.475+48C>T	TOR1AIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290236	NM_015602.4(TOR1AIP1):c.476-175_476-174del	TOR1AIP1	Deletion (intron variant)	not provided	GBenign
Select item 2192978	NM_015602.4(TOR1AIP1):c.476-20_476-19del	TOR1AIP1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2183021	NM_015602.4(TOR1AIP1):c.476-20T>G	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2993709	NM_015602.4(TOR1AIP1):c.476-9_476-8del	TOR1AIP1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2031590	NM_015602.4(TOR1AIP1):c.476-3dup	TOR1AIP1	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GBenign
Select item 766526	NM_015602.4(TOR1AIP1):c.480T>C (p.Asp160=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2416582	NM_015602.4(TOR1AIP1):c.485C>T (p.Ala162Val)	TOR1AIP1 (A162V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 705702	NM_015602.4(TOR1AIP1):c.493C>G (p.Gln165Glu)	TOR1AIP1 (Q165E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2437183	NM_015602.4(TOR1AIP1):c.507C>A (p.Ser169Arg)	TOR1AIP1 (S169R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1381571	NM_015602.4(TOR1AIP1):c.512C>T (p.Thr171Met)	TOR1AIP1 (T171M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 648004	NM_015602.4(TOR1AIP1):c.514A>G (p.Ile172Val)	TOR1AIP1 (I172V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1442155	NM_015602.4(TOR1AIP1):c.518C>T (p.Ser173Leu)	TOR1AIP1 (S173L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1084326	NM_015602.4(TOR1AIP1):c.519A>G (p.Ser173=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1123120	NM_015602.4(TOR1AIP1):c.525A>G (p.Lys175=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2010695	NM_015602.4(TOR1AIP1):c.527C>G (p.Thr176Ser)	TOR1AIP1 (T176S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1366343	NM_015602.4(TOR1AIP1):c.529G>A (p.Val177Ile)	TOR1AIP1 (V177I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2966330	NM_015602.4(TOR1AIP1):c.531C>T (p.Val177=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 476286	NM_015602.4(TOR1AIP1):c.531_532insTCA (p.Val177_Arg178insSer)	TOR1AIP1	Insertion (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 1601952	NM_015602.4(TOR1AIP1):c.537C>T (p.Ser179=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2165736	NM_015602.4(TOR1AIP1):c.540A>C (p.Ile180=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1604280	NM_015602.4(TOR1AIP1):c.540A>T (p.Ile180=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 707626	NM_015602.4(TOR1AIP1):c.543A>G (p.Gln181=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 952831	NM_015602.4(TOR1AIP1):c.548C>G (p.Ala183Gly)	TOR1AIP1 (A183G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 664567	NM_015602.4(TOR1AIP1):c.553+1_553+10del	TOR1AIP1	Deletion (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 644515	NM_015602.4(TOR1AIP1):c.553+1G>A	TOR1AIP1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely pathogenic
Select item 2975695	NM_015602.4(TOR1AIP1):c.553+10G>C	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 542854	NM_015602.4(TOR1AIP1):c.553+10G>A	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2161458	NM_015602.4(TOR1AIP1):c.553+14A>G	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1181048	NM_015602.4(TOR1AIP1):c.553+78T>C	TOR1AIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246749	NM_015602.4(TOR1AIP1):c.553+122A>T	TOR1AIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295841	NM_015602.4(TOR1AIP1):c.554-156G>A	TOR1AIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222589	NM_015602.4(TOR1AIP1):c.554-115C>T	TOR1AIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1602543	NM_015602.4(TOR1AIP1):c.554-23G>A	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1985858	NM_015602.4(TOR1AIP1):c.554-12del	TOR1AIP1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2854353	NM_015602.4(TOR1AIP1):c.554-11T>G	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2693888	NM_015602.4(TOR1AIP1):c.554-10A>G	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 952016	NM_015602.4(TOR1AIP1):c.554-4_554-1delinsAC	TOR1AIP1	Indel (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely pathogenic
Select item 257701	NM_015602.4(TOR1AIP1):c.554-4G>A	TOR1AIP1	Single nucleotide variant (splice acceptor variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more	GConflicting classifications of pathogenicity
Select item 1342253	NM_015602.4(TOR1AIP1):c.554-1G>A	TOR1AIP1 (V186M)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GConflicting classifications of pathogenicity
Select item 1079912	NM_015602.4(TOR1AIP1):c.555G>A (p.Val185=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more	GLikely benign
Select item 2759123	NM_015602.4(TOR1AIP1):c.570A>G (p.Val190=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 257702	NM_015602.4(TOR1AIP1):c.576G>A (p.Arg192=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more	GBenign/Likely benign
Select item 476287	NM_015602.4(TOR1AIP1):c.580C>T (p.Arg194Cys)	TOR1AIP1 (R195C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 858426	NM_015602.4(TOR1AIP1):c.581G>A (p.Arg194His)	TOR1AIP1 (R195H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 3023484	NM_015602.4(TOR1AIP1):c.583C>T (p.Arg195Ter)	TOR1AIP1 (R196* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GPathogenic
Select item 2043225	NM_015602.4(TOR1AIP1):c.584G>A (p.Arg195Gln)	TOR1AIP1 (R195Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1002849	NM_015602.4(TOR1AIP1):c.592C>A (p.Leu198Ile)	TOR1AIP1 (L198I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1139644	NM_015602.4(TOR1AIP1):c.600C>T (p.Tyr200=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1011430	NM_015602.4(TOR1AIP1):c.609T>C (p.Tyr203=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2636209	NM_015602.4(TOR1AIP1):c.610G>T (p.Glu204Ter)	TOR1AIP1 (E204* +1 more)	Single nucleotide variant (nonsense)	TOR1AIP1-related disorder	GLikely pathogenic
Select item 948941	NM_015602.4(TOR1AIP1):c.610+3A>G	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2985332	NM_015602.4(TOR1AIP1):c.610+7G>T	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1118740	NM_015602.4(TOR1AIP1):c.610+13_610+16del	TOR1AIP1	Microsatellite (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1264646	NM_015602.4(TOR1AIP1):c.610+298del	TOR1AIP1	Deletion (intron variant)	not provided	GBenign
Select item 1186335	NM_015602.4(TOR1AIP1):c.610+295_610+298del	TOR1AIP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1207571	NM_015602.4(TOR1AIP1):c.610+298T>A	TOR1AIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198414	NM_015602.4(TOR1AIP1):c.611-213G>A	TOR1AIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902384	NM_015602.4(TOR1AIP1):c.611-20T>C	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1597557	NM_015602.4(TOR1AIP1):c.611-17A>G	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2979707	NM_015602.4(TOR1AIP1):c.611-16T>C	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1598211	NM_015602.4(TOR1AIP1):c.611-8dup	TOR1AIP1	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GBenign
Select item 933498	NM_015602.4(TOR1AIP1):c.611-10T>A	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1520623	NM_015602.4(TOR1AIP1):c.619A>G (p.Ser207Gly)	TOR1AIP1 (S207G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1574748	NM_015602.4(TOR1AIP1):c.621T>C (p.Ser207=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1989858	NM_015602.4(TOR1AIP1):c.633G>A (p.Lys211=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 851674	NM_015602.4(TOR1AIP1):c.638A>G (p.Asn213Ser)	TOR1AIP1 (N213S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 660593	NM_015602.4(TOR1AIP1):c.646G>T (p.Glu216Ter)	TOR1AIP1 (E216* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GPathogenic
Select item 2150478	NM_015602.4(TOR1AIP1):c.652+18A>G	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1193292	NM_015602.4(TOR1AIP1):c.652+114G>A	TOR1AIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191936	NM_015602.4(TOR1AIP1):c.652+286A>G	TOR1AIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296013	NM_015602.4(TOR1AIP1):c.653-247T>C	TOR1AIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1936825	NM_015602.4(TOR1AIP1):c.653-17T>C	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2837993	NM_015602.4(TOR1AIP1):c.653-13T>A	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1947838	NM_015602.4(TOR1AIP1):c.653-8C>T	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1985605	NM_015602.4(TOR1AIP1):c.653-6C>A	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 772419	NM_015602.4(TOR1AIP1):c.653-6C>T	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2957956	NM_015602.4(TOR1AIP1):c.653-4_653-3del	TOR1AIP1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2048370	NM_015602.4(TOR1AIP1):c.653G>C (p.Gly218Ala)	TOR1AIP1 (G218A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 945670	NM_015602.4(TOR1AIP1):c.661G>A (p.Glu221Lys)	TOR1AIP1 (E221K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 933326	NM_015602.4(TOR1AIP1):c.663AGA[1] (p.Glu222del)	TOR1AIP1 (E223del +1 more)	Microsatellite (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 950989	NM_015602.4(TOR1AIP1):c.663del (p.Glu222fs)	TOR1AIP1 (E222fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GPathogenic
Select item 2437182	NM_015602.4(TOR1AIP1):c.666A>T (p.Glu222Asp)	TOR1AIP1 (E222D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more	GUncertain significance
Select item 1493367	NM_015602.4(TOR1AIP1):c.676G>C (p.Asp226His)	TOR1AIP1 (D227H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1587571	NM_015602.4(TOR1AIP1):c.678C>T (p.Asp226=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 3181298	NM_015602.4(TOR1AIP1):c.683C>T (p.Ser228Phe)	TOR1AIP1 (S228F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1640058	NM_015602.4(TOR1AIP1):c.696C>G (p.Val232=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1419600	NM_015602.4(TOR1AIP1):c.700A>G (p.Thr234Ala)	TOR1AIP1 (T234A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1975298	NM_015602.4(TOR1AIP1):c.701C>T (p.Thr234Ile)	TOR1AIP1 (T235I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 818045	NM_015602.4(TOR1AIP1):c.721del (p.Asp241fs)	TOR1AIP1 (D241fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1466030	NM_015602.4(TOR1AIP1):c.739+1G>A	TOR1AIP1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely pathogenic
Select item 1083684	NM_015602.4(TOR1AIP1):c.739+7T>C	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2981594	NM_015602.4(TOR1AIP1):c.739+9G>C	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign

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