TGFBRAP1[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	See cases	GUncertain significance
Select item 154902	GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1	C2orf49, C2orf49-DT +111 more	Copy number loss	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 145646	GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1	TMEM182, C2orf49 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 145956	GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1	C2orf49, C2orf49-DT +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 151418	GRCh38/hg38 2q12.1-12.2(chr2:104871270-105354003)x1	C2orf49, C2orf49-DT +21 more	Copy number loss	See cases	GUncertain significance
Select item 146152	GRCh38/hg38 2q12.1-12.2(chr2:105239034-106152100)x3	C2orf49, C2orf49-DT +41 more	Copy number gain	See cases	GBenign
Select item 2346951	NM_004257.6(TGFBRAP1):c.2575C>T (p.Arg859Trp)	TGFBRAP1 (R859W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176688	NM_004257.6(TGFBRAP1):c.2545A>G (p.Thr849Ala)	TGFBRAP1 (T849A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237349	NM_004257.6(TGFBRAP1):c.2419G>C (p.Gly807Arg)	TGFBRAP1 (G807R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176687	NM_004257.6(TGFBRAP1):c.2409G>A (p.Met803Ile)	TGFBRAP1 (M803I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176686	NM_004257.6(TGFBRAP1):c.2407A>G (p.Met803Val)	TGFBRAP1 (M803V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275949	NM_004257.6(TGFBRAP1):c.2328C>G (p.Asp776Glu)	TGFBRAP1 (D776E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708524	NM_004257.6(TGFBRAP1):c.2214G>A (p.Val738=)	TGFBRAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2399768	NM_004257.6(TGFBRAP1):c.2194G>A (p.Glu732Lys)	TGFBRAP1 (E732K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176685	NM_004257.6(TGFBRAP1):c.2087C>A (p.Ala696Asp)	TGFBRAP1 (A696D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651227	NM_004257.6(TGFBRAP1):c.1986A>C (p.Gly662=)	TGFBRAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3325735	NM_004257.6(TGFBRAP1):c.1928G>A (p.Arg643Gln)	TGFBRAP1 (R643Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176684	NM_004257.6(TGFBRAP1):c.1924C>T (p.Arg642Trp)	TGFBRAP1 (R642W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464657	NM_004257.6(TGFBRAP1):c.1916C>G (p.Ala639Gly)	TGFBRAP1 (A639G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362256	NM_004257.6(TGFBRAP1):c.1910C>T (p.Thr637Met)	TGFBRAP1 (T637M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786864	NM_004257.6(TGFBRAP1):c.1890G>A (p.Lys630=)	TGFBRAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2252894	NM_004257.6(TGFBRAP1):c.1874C>T (p.Ala625Val)	TGFBRAP1 (A625V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351544	NM_004257.6(TGFBRAP1):c.1803G>C (p.Lys601Asn)	TGFBRAP1 (K601N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176683	NM_004257.6(TGFBRAP1):c.1768C>T (p.Leu590Phe)	TGFBRAP1 (L590F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472399	NM_004257.6(TGFBRAP1):c.1756T>C (p.Tyr586His)	TGFBRAP1 (Y586H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276288	NM_004257.6(TGFBRAP1):c.1751A>G (p.Lys584Arg)	TGFBRAP1 (K584R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243805	NM_004257.6(TGFBRAP1):c.1732G>A (p.Asp578Asn)	TGFBRAP1 (D578N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412152	NM_004257.6(TGFBRAP1):c.1678G>A (p.Val560Ile)	TGFBRAP1 (V560I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651228	NM_004257.6(TGFBRAP1):c.1614C>T (p.Asp538=)	TGFBRAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2246995	NM_004257.6(TGFBRAP1):c.1430C>T (p.Thr477Met)	TGFBRAP1 (T477M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509190	NM_004257.6(TGFBRAP1):c.1384G>A (p.Asp462Asn)	TGFBRAP1 (D462N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176682	NM_004257.6(TGFBRAP1):c.1342A>G (p.Ile448Val)	TGFBRAP1 (I448V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337472	NM_004257.6(TGFBRAP1):c.1226A>G (p.Asp409Gly)	TGFBRAP1 (D409G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324901	NM_004257.6(TGFBRAP1):c.1091T>G (p.Leu364Arg)	TGFBRAP1 (L364R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552215	NM_004257.6(TGFBRAP1):c.1075A>G (p.Ile359Val)	TGFBRAP1 (I359V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536534	NM_004257.6(TGFBRAP1):c.1043T>C (p.Met348Thr)	TGFBRAP1 (M348T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783337	NM_004257.6(TGFBRAP1):c.902C>G (p.Thr301Arg)	TGFBRAP1 (T301R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2353512	NM_004257.6(TGFBRAP1):c.785C>T (p.Ala262Val)	TGFBRAP1 (A262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343621	NM_004257.6(TGFBRAP1):c.784G>T (p.Ala262Ser)	TGFBRAP1 (A262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344882	NM_004257.6(TGFBRAP1):c.778G>A (p.Val260Ile)	TGFBRAP1 (V260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325734	NM_004257.6(TGFBRAP1):c.740C>T (p.Ser247Leu)	TGFBRAP1 (S247L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460823	NM_004257.6(TGFBRAP1):c.706G>T (p.Ala236Ser)	TGFBRAP1 (A236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569056	NM_004257.6(TGFBRAP1):c.664C>G (p.Leu222Val)	TGFBRAP1 (L222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325733	NM_004257.6(TGFBRAP1):c.647T>C (p.Ile216Thr)	TGFBRAP1 (I216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207920	NM_004257.6(TGFBRAP1):c.642G>C (p.Lys214Asn)	TGFBRAP1 (K214N)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 712358	NM_004257.6(TGFBRAP1):c.495G>A (p.Ser165=)	TGFBRAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2397208	NM_004257.6(TGFBRAP1):c.481G>A (p.Val161Ile)	TGFBRAP1 (V161I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712359	NM_004257.6(TGFBRAP1):c.462C>T (p.Tyr154=)	TGFBRAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2488247	NM_004257.6(TGFBRAP1):c.436A>G (p.Arg146Gly)	TGFBRAP1 (R146G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406380	NM_004257.6(TGFBRAP1):c.343C>T (p.Arg115Cys)	TGFBRAP1 (R115C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325736	NM_004257.6(TGFBRAP1):c.250G>A (p.Ala84Thr)	TGFBRAP1 (A84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412451	NM_004257.6(TGFBRAP1):c.184A>C (p.Thr62Pro)	TGFBRAP1 (T62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548068	NM_004257.6(TGFBRAP1):c.176G>A (p.Gly59Glu)	TGFBRAP1 (G59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607334	NM_004257.6(TGFBRAP1):c.175G>T (p.Gly59Trp)	TGFBRAP1 (G59W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270922	NM_004257.6(TGFBRAP1):c.172G>A (p.Ala58Thr)	TGFBRAP1 (A58T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062631	GRCh37/hg19 2q12.1-12.2(chr2:105674582-106762678)x1	C2orf49, ECRG4 +6 more	Copy number loss	not specified	GUncertain significance
Select item 2684631	GRCh37/hg19 2q11.2-12.2(chr2:101933587-106547126)x1	C2orf49, CREG2 +18 more	Copy number loss	not provided	GUncertain significance
Select item 1809266	GRCh37/hg19 2q12.1-12.2(chr2:105918129-106005471)x1	C2orf49, FHL2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1426062	NC_000002.11:g.(?_105858316)_(106002973_?)dup	GPR45, TGFBRAP1 +2 more	Duplication	not provided	GUncertain significance
Select item 1340175	GRCh37/hg19 2q11.2-12.2(chr2:101699537-106383710)x1	C2orf49, CNOT11 +21 more	Copy number loss	not provided	GUncertain significance
Select item 688268	GRCh37/hg19 2q12.1-12.2(chr2:102917327-106755564)x1	C2orf49, ECRG4 +14 more	Copy number loss	not provided	GUncertain significance
Select item 687770	GRCh37/hg19 2q12.1-12.2(chr2:104816400-106617614)x3	C2orf49, FHL2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562651	GRCh37/hg19 2q12.1-12.2(chr2:104327052-106123901)x3	GPR45, TGFBRAP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 562648	GRCh37/hg19 2q12.1-12.2(chr2:104995799-106679055)x1	TGFBRAP1, NCK2 +5 more	Copy number loss	not provided	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 443263	GRCh37/hg19 2q12.1(chr2:105239993-105899739)x3	GPR45, MRPS9 +2 more	Copy number gain	See cases	GLikely benign
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic

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Items: 78