TRUB1[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 146710	GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1	LOC130004765, LOC130004766 +109 more	Copy number loss	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 146484	GRCh38/hg38 10q25.3(chr10:114584882-115096595)x3	ABLIM1, ATRNL1 +18 more	Copy number gain	See cases	GLikely benign
Select item 57171	GRCh38/hg38 10q25.3(chr10:114584882-117015907)x1	ABLIM1, ATRNL1 +45 more	Copy number loss	See cases	GPathogenic
Select item 2323061	NM_139169.5(TRUB1):c.25G>A (p.Val9Met)	LOC130004800, TRUB1 (V9M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 932329	NM_139169.5(TRUB1):c.27G>A (p.Val9=)	LOC130004800, TRUB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3183541	NM_139169.5(TRUB1):c.67G>C (p.Glu23Gln)	LOC130004800, TRUB1 (E23Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329368	NM_139169.5(TRUB1):c.173A>C (p.Lys58Thr)	LOC130004800, TRUB1 (K58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329372	NM_139169.5(TRUB1):c.221T>A (p.Val74Glu)	LOC130004800, TRUB1 (V74E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329371	NM_139169.5(TRUB1):c.225C>G (p.His75Gln)	LOC130004800, TRUB1 (H75Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211417	NM_139169.5(TRUB1):c.323A>G (p.Lys108Arg)	TRUB1 (K108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350979	NM_139169.5(TRUB1):c.367G>A (p.Ala123Thr)	TRUB1 (A123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329369	NM_139169.5(TRUB1):c.422G>A (p.Ser141Asn)	TRUB1 (S141N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183539	NM_139169.5(TRUB1):c.590C>T (p.Pro197Leu)	TRUB1 (P197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183540	NM_139169.5(TRUB1):c.646A>G (p.Arg216Gly)	TRUB1 (R216G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329290	NM_139169.5(TRUB1):c.695G>A (p.Ser232Asn)	TRUB1 (S232N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279570	NM_139169.5(TRUB1):c.701C>G (p.Ser234Cys)	TRUB1 (S234C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457665	NM_139169.5(TRUB1):c.812A>G (p.Asn271Ser)	TRUB1 (N271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474559	NM_139169.5(TRUB1):c.880A>G (p.Lys294Glu)	TRUB1 (K294E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237175	NM_139169.5(TRUB1):c.914A>G (p.Glu305Gly)	TRUB1 (E305G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183542	NM_139169.5(TRUB1):c.971C>G (p.Ser324Cys)	TRUB1 (S324C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329370	NM_139169.5(TRUB1):c.991T>A (p.Cys331Ser)	TRUB1 (C331S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 979292	GRCh37/hg19 10q25.3(chr10:116729745-116930466)x3	ATRNL1, TRUB1	Copy number gain	not provided	GUncertain significance
Select item 688988	GRCh37/hg19 10q25.3(chr10:116643681-116879228)x3	ATRNL1, FHIP2A +1 more	Copy number gain	not provided	GUncertain significance
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 49