TOR3A[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 2221111	NM_022371.4(TOR3A):c.53C>G (p.Pro18Arg)	LOC129931992, TOR3A (P18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383585	NM_022371.4(TOR3A):c.76G>A (p.Ala26Thr)	LOC129931992, TOR3A (A26T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2274165	NM_022371.4(TOR3A):c.119G>C (p.Trp40Ser)	LOC129931992, TOR3A (W40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181321	NM_022371.4(TOR3A):c.167G>C (p.Gly56Ala)	LOC129931992, TOR3A (G56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620741	NM_022371.4(TOR3A):c.205C>G (p.Gln69Glu)	LOC129931992, TOR3A (Q69E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181322	NM_022371.4(TOR3A):c.233A>T (p.Asp78Val)	TOR3A (D78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340395	NM_022371.4(TOR3A):c.241G>A (p.Ala81Thr)	TOR3A (A81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324705	NM_022371.4(TOR3A):c.298C>T (p.Leu100Phe)	TOR3A (L100F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328125	NM_022371.4(TOR3A):c.343G>A (p.Gly115Arg)	TOR3A (G115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335092	NM_022371.4(TOR3A):c.491C>T (p.Ser164Leu)	TOR3A (S164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315573	NM_022371.4(TOR3A):c.526G>A (p.Val176Met)	TOR3A (V176M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328124	NM_022371.4(TOR3A):c.542T>C (p.Val181Ala)	TOR3A (V181A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2489672	NM_022371.4(TOR3A):c.572G>C (p.Ser191Thr)	TOR3A (S191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480746	NM_022371.4(TOR3A):c.588G>T (p.Met196Ile)	TOR3A (M196I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507440	NM_022371.4(TOR3A):c.661C>T (p.Arg221Trp)	TOR3A (R221W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350335	NM_022371.4(TOR3A):c.662G>C (p.Arg221Pro)	TOR3A (R221P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251225	NM_022371.4(TOR3A):c.664G>C (p.Glu222Gln)	TOR3A (E222Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540451	NM_022371.4(TOR3A):c.668C>T (p.Thr223Met)	TOR3A (T223M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181323	NM_022371.4(TOR3A):c.682C>T (p.His228Tyr)	TOR3A (H228Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303665	NM_022371.4(TOR3A):c.737A>G (p.Glu246Gly)	TOR3A (E246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527429	NM_022371.4(TOR3A):c.742C>T (p.Leu248Phe)	TOR3A (L248F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181324	NM_022371.4(TOR3A):c.760C>T (p.Arg254Cys)	TOR3A (R254C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531790	NM_022371.4(TOR3A):c.817A>C (p.Ser273Arg)	TOR3A (S273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490735	NM_022371.4(TOR3A):c.820A>C (p.Asn274His)	TOR3A (N274H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181325	NM_022371.4(TOR3A):c.896T>A (p.Met299Lys)	TOR3A (M299K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390627	NM_022371.4(TOR3A):c.903C>G (p.His301Gln)	TOR3A (H301Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229539	NM_022371.4(TOR3A):c.941T>C (p.Ile314Thr)	TOR3A (I314T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522866	NM_022371.4(TOR3A):c.968T>A (p.Leu323His)	TOR3A (L323H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357865	NM_022371.4(TOR3A):c.983T>A (p.Leu328Gln)	TOR3A (L328Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228392	NM_022371.4(TOR3A):c.1021C>T (p.Arg341Cys)	TOR3A (R341C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328122	NM_022371.4(TOR3A):c.1043G>A (p.Arg348Gln)	TOR3A (R348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025198	NM_022371.4(TOR3A):c.1069C>T (p.Leu357=)	TOR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3328123	NM_022371.4(TOR3A):c.1100C>G (p.Ala367Gly)	TOR3A (A367G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366140	NM_022371.4(TOR3A):c.1139T>C (p.Phe380Ser)	TOR3A (F380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181320	NM_022371.4(TOR3A):c.1162A>C (p.Ile388Leu)	TOR3A (I388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512618	NM_022371.4(TOR3A):c.1183T>G (p.Phe395Val)	TOR3A (F395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 565201	GRCh37/hg19 1q25.2(chr1:178892713-179557557)x3	NPHS2, ABL2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 226132	GRCh37/hg19 1q25.2-25.3(chr1:178806664-181082264)	TOR3A, TOR1AIP1 +19 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 62