FAM81A[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	ADAM10, ALDH1A2 +140 more	Copy number loss	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 2271243	NM_152450.3(FAM81A):c.109A>T (p.Ile37Phe)	FAM81A (I37F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369856	NM_152450.3(FAM81A):c.142G>A (p.Val48Ile)	FAM81A (V48I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623914	NM_152450.3(FAM81A):c.265A>G (p.Ile89Val)	FAM81A (I89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410910	NM_152450.3(FAM81A):c.565G>A (p.Val189Met)	FAM81A (V189M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600981	NM_152450.3(FAM81A):c.604A>T (p.Met202Leu)	FAM81A (M202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 805979	NM_152450.3(FAM81A):c.651-3dup	FAM81A	Duplication (intron variant)	CIC-DUX Sarcoma	Gnot provided
Select item 2349497	NM_152450.3(FAM81A):c.698G>A (p.Arg233Gln)	FAM81A (R233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266615	NM_152450.3(FAM81A):c.728T>A (p.Ile243Lys)	FAM81A (I243K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603222	NM_152450.3(FAM81A):c.785G>C (p.Ser262Thr)	FAM81A (S262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341719	NM_152450.3(FAM81A):c.872T>C (p.Phe291Ser)	FAM81A (F291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092528	NM_152450.3(FAM81A):c.946C>G (p.Gln316Glu)	FAM81A (Q316E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	WDR72, ZNF280D +35 more	Copy number loss	not provided	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815724	GRCh37/hg19 15q22.2(chr15:59592936-60360150)x1	FOXB1, GCNT3 +4 more	Copy number loss	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564210	GRCh37/hg19 15q21.3-22.2(chr15:58441151-60270526)x3	ADAM10, AQP9 +11 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442636	GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1	ADAM10, ALDH1A2 +17 more	Copy number loss	See cases	GPathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic

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Items: 28