30915[HGNC] - ClinVar - NCBI

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Items: 16

	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 736726	NM_005828.5(DCAF7):c.21G>A (p.Arg7=)	DCAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3080333	NM_005828.5(DCAF7):c.46C>T (p.Pro16Ser)	DCAF7 (P16S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782725	NM_005828.5(DCAF7):c.246C>T (p.Gly82=)	DCAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3080332	NM_005828.5(DCAF7):c.247G>A (p.Val83Ile)	DCAF7 (V83I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786321	NM_005828.5(DCAF7):c.507G>A (p.Gln169=)	DCAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2212000	NM_005828.5(DCAF7):c.601G>A (p.Val201Met)	DCAF7 (V201M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
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 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic