"Genome-Nilou Lab"[submitter] AND "TOR1AIP1"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2057303	NM_015602.4(TOR1AIP1):c.7G>A (p.Gly3Ser)	LOC112577517, TOR1AIP1 (G3S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 476284	NM_015602.4(TOR1AIP1):c.37G>A (p.Glu13Lys)	LOC112577517, TOR1AIP1 (E13K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more	GUncertain significance
Select item 1143610	NM_015602.4(TOR1AIP1):c.66G>A (p.Arg22=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more	GLikely benign
Select item 476288	NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala)	LOC112577517, TOR1AIP1 (P24A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1300450	NM_015602.4(TOR1AIP1):c.119G>C (p.Ser40Thr)	LOC112577517, TOR1AIP1 (S40T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 970075	NM_015602.4(TOR1AIP1):c.125C>T (p.Ala42Val)	LOC112577517, TOR1AIP1 (A42V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1302076	NM_015602.4(TOR1AIP1):c.241G>A (p.Val81Met)	LOC112577517, TOR1AIP1 (V81M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more	GUncertain significance
Select item 1021212	NM_015602.4(TOR1AIP1):c.252A>T (p.Arg84=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 476281	NM_015602.4(TOR1AIP1):c.274T>A (p.Ser92Thr)	LOC112577517, TOR1AIP1 (S92T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 951528	NM_015602.4(TOR1AIP1):c.305G>A (p.Ser102Asn)	LOC112577517, TOR1AIP1 (S102N)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1809954	NM_015602.4(TOR1AIP1):c.350A>T (p.Gln117Leu)	TOR1AIP1, LOC112577517 (Q117L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 847674	NM_015602.4(TOR1AIP1):c.371C>T (p.Thr124Met)	LOC112577517, TOR1AIP1 (T124M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 841950	NM_015602.4(TOR1AIP1):c.373C>G (p.Arg125Gly)	LOC112577517, TOR1AIP1 (R125G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1064307	NM_015602.4(TOR1AIP1):c.404C>T (p.Ser135Leu)	LOC112577517, TOR1AIP1 (S135L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 476285	NM_015602.4(TOR1AIP1):c.428C>T (p.Ser143Phe)	LOC112577517, TOR1AIP1 (S143F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 257699	NM_015602.4(TOR1AIP1):c.437T>C (p.Met146Thr)	LOC112577517, TOR1AIP1 (M146T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more	GBenign
Select item 1025504	NM_015602.4(TOR1AIP1):c.443G>C (p.Arg148Thr)	LOC112577517, TOR1AIP1 (R148T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more	GUncertain significance
Select item 581557	NM_015602.4(TOR1AIP1):c.452T>C (p.Leu151Pro)	LOC112577517, TOR1AIP1 (L151P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 971234	NM_015602.4(TOR1AIP1):c.455G>A (p.Arg152Gln)	LOC112577517, TOR1AIP1 (R152Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1035738	NM_015602.4(TOR1AIP1):c.457G>A (p.Asp153Asn)	LOC112577517, TOR1AIP1 (D153N)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more	GUncertain significance
Select item 644094	NM_015602.4(TOR1AIP1):c.467C>T (p.Ser156Phe)	LOC112577517, TOR1AIP1 (S156F)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more	GUncertain significance
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 707626	NM_015602.4(TOR1AIP1):c.543A>G (p.Gln181=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 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 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 978531	NM_015602.4(TOR1AIP1):c.755C>T (p.Ser252Leu)	TOR1AIP1 (S252L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 257703	NM_015602.4(TOR1AIP1):c.827C>G (p.Pro276Arg)	TOR1AIP1 (P277R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more	GBenign
Select item 1074522	NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter)	TOR1AIP1 (S277* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GConflicting classifications of pathogenicity
Select item 652615	NM_015602.4(TOR1AIP1):c.838+3A>G	TOR1AIP1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 576695	NM_015602.4(TOR1AIP1):c.855A>C (p.Lys285Asn)	TOR1AIP1 (K286N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1302538	NM_015602.4(TOR1AIP1):c.857C>T (p.Thr286Ile)	TOR1AIP1 (T286I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 257704	NM_015602.4(TOR1AIP1):c.879A>C (p.Gln293His)	TOR1AIP1 (Q294H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more	GBenign
Select item 851313	NM_015602.4(TOR1AIP1):c.907A>G (p.Asn303Asp)	TOR1AIP1 (N303D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 476290	NM_015602.4(TOR1AIP1):c.909T>C (p.Asn303=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 804380	NM_015602.4(TOR1AIP1):c.961C>T (p.Arg321Ter)	TOR1AIP1 (R321* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 476292	NM_015602.4(TOR1AIP1):c.964+1G>A	TOR1AIP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GBenign/Likely benign
Select item 257705	NM_015602.4(TOR1AIP1):c.964+17A>G	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more	GBenign
Select item 542853	NM_015602.4(TOR1AIP1):c.965-10del	TOR1AIP1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more	GLikely benign
Select item 2157712	NM_015602.4(TOR1AIP1):c.1037C>A (p.Ala346Asp)	TOR1AIP1 (A346D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 961529	NM_015602.4(TOR1AIP1):c.1140A>C (p.Gln380His)	TOR1AIP1 (Q380H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 476278	NM_015602.4(TOR1AIP1):c.1147G>A (p.Asp383Asn)	TOR1AIP1 (D384N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more	GLikely benign
Select item 2146305	NM_015602.4(TOR1AIP1):c.1211G>A (p.Arg404Gln)	TOR1AIP1 (R404Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 642712	NM_015602.4(TOR1AIP1):c.1319G>A (p.Arg440His)	TOR1AIP1 (R440H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more	GUncertain significance
Select item 967732	NM_015602.4(TOR1AIP1):c.1355A>G (p.Gln452Arg)	TOR1AIP1 (Q453R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more	GUncertain significance
Select item 1054777	NM_015602.4(TOR1AIP1):c.1439G>A (p.Arg480His)	TOR1AIP1 (R480H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more	GUncertain significance
Select item 658161	NM_015602.4(TOR1AIP1):c.1456G>A (p.Ala486Thr)	TOR1AIP1 (A487T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 257698	NM_015602.4(TOR1AIP1):c.1503G>A (p.Ala501=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more	GBenign
Select item 569658	NM_015602.4(TOR1AIP1):c.1609A>G (p.Lys537Glu)	TOR1AIP1 (K538E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 476279	NM_015602.4(TOR1AIP1):c.1651C>G (p.His551Asp)	TOR1AIP1 (H552D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1220055	NM_015602.4(TOR1AIP1):c.1688G>A (p.Arg563His)	TOR1AIP1 (R563H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 53