CACUL1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 147279	GRCh38/hg38 10q26.11(chr10:118330136-118685873)x3	CACUL1, FAM204A +4 more	Copy number gain	See cases	GPathogenic
Select item 816822	NM_153810.5(CACUL1):c.910_911del (p.Leu304fs)	CACUL1 (L304fs)	Microsatellite (frameshift variant)	Flexion contracture	GLikely pathogenic
Select item 3262894	NM_153810.5(CACUL1):c.634A>G (p.Ile212Val)	CACUL1 (I212V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254839	NM_153810.5(CACUL1):c.586A>G (p.Lys196Glu)	CACUL1 (K196E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269455	NM_153810.5(CACUL1):c.330C>G (p.Ser110Arg)	CACUL1 (S110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468815	NM_153810.5(CACUL1):c.316G>A (p.Ala106Thr)	CACUL1 (A106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136559	NM_153810.5(CACUL1):c.304A>G (p.Lys102Glu)	CACUL1 (K102E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213644	NM_153810.5(CACUL1):c.283G>C (p.Asp95His)	CACUL1 (D95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533960	NM_153810.5(CACUL1):c.265A>G (p.Met89Val)	CACUL1 (M89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262895	NM_153810.5(CACUL1):c.251C>A (p.Ala84Asp)	CACUL1 (A84D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136558	NM_153810.5(CACUL1):c.205G>A (p.Gly69Ser)	CACUL1 (G69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308352	NM_153810.5(CACUL1):c.187G>A (p.Val63Ile)	CACUL1 (V63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474184	NM_153810.5(CACUL1):c.178G>C (p.Val60Leu)	CACUL1 (V60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136561	NM_153810.5(CACUL1):c.83C>G (p.Ala28Gly)	CACUL1 (A28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136560	NM_153810.5(CACUL1):c.55G>A (p.Asp19Asn)	CACUL1 (D19N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262896	NM_153810.5(CACUL1):c.25G>A (p.Glu9Lys)	CACUL1 (E9K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617895	NM_153810.5(CACUL1):c.23A>T (p.Glu8Val)	CACUL1 (E8V)	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 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	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 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
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 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	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: 48