ClinVar for Gene (Select 9392) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3176688	NM_004257.6(TGFBRAP1):c.2545A>G (p.Thr849Ala)	TGFBRAP1 (T849A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176687	NM_004257.6(TGFBRAP1):c.2409G>A (p.Met803Ile)	TGFBRAP1 (M803I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176686	NM_004257.6(TGFBRAP1):c.2407A>G (p.Met803Val)	TGFBRAP1 (M803V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176685	NM_004257.6(TGFBRAP1):c.2087C>A (p.Ala696Asp)	TGFBRAP1 (A696D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176684	NM_004257.6(TGFBRAP1):c.1924C>T (p.Arg642Trp)	TGFBRAP1 (R642W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176683	NM_004257.6(TGFBRAP1):c.1768C>T (p.Leu590Phe)	TGFBRAP1 (L590F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176682	NM_004257.6(TGFBRAP1):c.1342A>G (p.Ile448Val)	TGFBRAP1 (I448V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2651228	NM_004257.6(TGFBRAP1):c.1614C>T (p.Asp538=)	TGFBRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2651227	NM_004257.6(TGFBRAP1):c.1986A>C (p.Gly662=)	TGFBRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2607334	NM_004257.6(TGFBRAP1):c.175G>T (p.Gly59Trp)	TGFBRAP1 (G59W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569056	NM_004257.6(TGFBRAP1):c.664C>G (p.Leu222Val)	TGFBRAP1 (L222V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552215	NM_004257.6(TGFBRAP1):c.1075A>G (p.Ile359Val)	TGFBRAP1 (I359V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548068	NM_004257.6(TGFBRAP1):c.176G>A (p.Gly59Glu)	TGFBRAP1 (G59E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536534	NM_004257.6(TGFBRAP1):c.1043T>C (p.Met348Thr)	TGFBRAP1 (M348T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509190	NM_004257.6(TGFBRAP1):c.1384G>A (p.Asp462Asn)	TGFBRAP1 (D462N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488247	NM_004257.6(TGFBRAP1):c.436A>G (p.Arg146Gly)	TGFBRAP1 (R146G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472399	NM_004257.6(TGFBRAP1):c.1756T>C (p.Tyr586His)	TGFBRAP1 (Y586H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464657	NM_004257.6(TGFBRAP1):c.1916C>G (p.Ala639Gly)	TGFBRAP1 (A639G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460823	NM_004257.6(TGFBRAP1):c.706G>T (p.Ala236Ser)	TGFBRAP1 (A236S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412451	NM_004257.6(TGFBRAP1):c.184A>C (p.Thr62Pro)	TGFBRAP1 (T62P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412152	NM_004257.6(TGFBRAP1):c.1678G>A (p.Val560Ile)	TGFBRAP1 (V560I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406380	NM_004257.6(TGFBRAP1):c.343C>T (p.Arg115Cys)	TGFBRAP1 (R115C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399768	NM_004257.6(TGFBRAP1):c.2194G>A (p.Glu732Lys)	TGFBRAP1 (E732K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397208	NM_004257.6(TGFBRAP1):c.481G>A (p.Val161Ile)	TGFBRAP1 (V161I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362256	NM_004257.6(TGFBRAP1):c.1910C>T (p.Thr637Met)	TGFBRAP1 (T637M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353512	NM_004257.6(TGFBRAP1):c.785C>T (p.Ala262Val)	TGFBRAP1 (A262V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351544	NM_004257.6(TGFBRAP1):c.1803G>C (p.Lys601Asn)	TGFBRAP1 (K601N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346951	NM_004257.6(TGFBRAP1):c.2575C>T (p.Arg859Trp)	TGFBRAP1 (R859W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344882	NM_004257.6(TGFBRAP1):c.778G>A (p.Val260Ile)	TGFBRAP1 (V260I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343621	NM_004257.6(TGFBRAP1):c.784G>T (p.Ala262Ser)	TGFBRAP1 (A262S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337472	NM_004257.6(TGFBRAP1):c.1226A>G (p.Asp409Gly)	TGFBRAP1 (D409G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324901	NM_004257.6(TGFBRAP1):c.1091T>G (p.Leu364Arg)	TGFBRAP1 (L364R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276288	NM_004257.6(TGFBRAP1):c.1751A>G (p.Lys584Arg)	TGFBRAP1 (K584R)	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 +1 more)	not specified	GUncertain significance
Select item 2270922	NM_004257.6(TGFBRAP1):c.172G>A (p.Ala58Thr)	TGFBRAP1 (A58T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2252894	NM_004257.6(TGFBRAP1):c.1874C>T (p.Ala625Val)	TGFBRAP1 (A625V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246995	NM_004257.6(TGFBRAP1):c.1430C>T (p.Thr477Met)	TGFBRAP1 (T477M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243805	NM_004257.6(TGFBRAP1):c.1732G>A (p.Asp578Asn)	TGFBRAP1 (D578N)	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 +2 more)	not specified	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	C2orf49, FHL2 +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 786864	NM_004257.6(TGFBRAP1):c.1890G>A (p.Lys630=)	TGFBRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 783337	NM_004257.6(TGFBRAP1):c.902C>G (p.Thr301Arg)	TGFBRAP1 (T301R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 712359	NM_004257.6(TGFBRAP1):c.462C>T (p.Tyr154=)	TGFBRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 712358	NM_004257.6(TGFBRAP1):c.495G>A (p.Ser165=)	TGFBRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 708524	NM_004257.6(TGFBRAP1):c.2214G>A (p.Val738=)	TGFBRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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
Select item 207920	NM_004257.6(TGFBRAP1):c.642G>C (p.Lys214Asn)	TGFBRAP1 (K214N)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
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 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 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
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 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
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 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 145646	GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1	TMEM182, C2orf49 +113 more	Copy number loss	See cases	GLikely pathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 74