24679[HGNC] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 3093526	NM_032875.3(FBXL20):c.1148G>A (p.Arg383Gln)	FBXL20 (R385Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217620	NM_032875.3(FBXL20):c.1139G>A (p.Ser380Asn)	FBXL20 (S417N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368531	NM_032875.3(FBXL20):c.985G>A (p.Val329Ile)	FBXL20 (V297I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461063	NM_032875.3(FBXL20):c.728G>T (p.Cys243Phe)	FBXL20 (C211F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093527	NM_032875.3(FBXL20):c.657C>G (p.His219Gln)	FBXL20 (H189Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518513	NM_032875.3(FBXL20):c.646A>G (p.Ile216Val)	FBXL20 (I186V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266491	NM_032875.3(FBXL20):c.617C>T (p.Thr206Met)	FBXL20 (T208M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487264	NM_032875.3(FBXL20):c.522G>T (p.Leu174Phe)	FBXL20 (L142F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278052	NM_032875.3(FBXL20):c.332C>T (p.Thr111Ile)	FBXL20 (T113I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382932	NM_032875.3(FBXL20):c.320A>G (p.Asn107Ser)	FBXL20 (N107S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471444	NM_032875.3(FBXL20):c.239G>A (p.Arg80Gln)	FBXL20 (R80Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093525	NM_032875.3(FBXL20):c.103C>T (p.Arg35Trp)	FBXL20 (R35W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 60170	GRCh38/hg38 17q12(chr17:39365569-39612092)x3	CDK12, FBXL20 +9 more	Copy number gain	See cases	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2685601	GRCh37/hg19 17q12(chr17:37371649-37472292)x1	FBXL20, STAC2	Copy number loss	not provided	GUncertain significance
Select item 815934	GRCh37/hg19 17q12(chr17:37323328-37551861)x3	CACNB1, STAC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688925	GRCh37/hg19 17q12(chr17:37190609-37868002)x3	ARL5C, CACNB1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564444	GRCh37/hg19 17q12(chr17:36972794-38033708)x4	STARD3, CDK12 +22 more	Copy number gain	not provided	GUncertain significance
Select item 443556	GRCh37/hg19 17q12(chr17:37313691-37868516)x3	ARL5C, CACNB1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395132	GRCh37/hg19 17q12(chr17:37381717-37596822)x3	FBXL20, MED1 +1 more	Copy number gain	See cases	GBenign

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Items: 27