FAM25E[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 58543	GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1	AGAP10, AGAP4 +125 more	Copy number loss	See cases	GPathogenic
Select item 146781	GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1	RBP3, SLC18A3 +123 more	Copy number loss	See cases	GPathogenic
Select item 151967	GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1	AGAP10, AGAP4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	GLikely pathogenic
Select item 148682	GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1	AGAP10, AGAP4 +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 3148901	GRCh37/hg19 10q11.22(chr10:46235740-48311490)x1	AGAP10, AGAP4 +9 more	Copy number loss	not provided	GUncertain significance
Select item 3148892	GRCh37/hg19 10q11.22(chr10:46235740-48220168)x3	AGAP10, AGAP4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2580332	GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1	AGAP10, AGAP4 +37 more	Copy number loss	See cases	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 1808699	GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 1711870	GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1	AGAP10, AGAP4 +35 more	Copy number loss	See cases	GPathogenic
Select item 1706513	GRCh37/hg19 10q11.22(chr10:46292022-48174779)x3	AGAP10, AGAP4 +5 more	Copy number gain	See cases	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 688266	GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3	AGAP10, AGAP4 +37 more	Copy number gain	not provided	GUncertain significance
Select item 686422	GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GPathogenic
Select item 563792	GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1	NPY4R, OGDHL +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 563791	GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1	AGAP10, AGAP4 +37 more	Copy number loss	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 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 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 394394	GRCh37/hg19 10q11.22(chr10:46224446-46321318)x3	AGAP4, FAM25E +1 more	Copy number gain	See cases	GBenign
Select item 394170	GRCh37/hg19 10q11.22-11.23(chr10:46224446-51594991)x1	AGAP10, AGAP4 +35 more	Copy number loss	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 253563	GRCh37/hg19 10q11.22-11.23(chr10:46242057-51595050)x3	AGAP10, AGAP4 +35 more	Copy number gain	See cases	GPathogenic
Select item 157160	Single allele	AGAP10, AGAP4 +6 more	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided

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Items: 36