ClinVar for Gene (Select 100130933) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320981	NM_001162997.2(SMIM6):c.38A>C (p.Asp13Ala)	RECQL5, SMIM6 (D13A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684856	GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	ACOX1, CASKIN2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2558633	NM_001162997.2(ERLN):c.172G>A (p.Ala58Thr)	ERLN, RECQL5 (A58T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382826	NM_001162997.2(ERLN):c.26C>T (p.Thr9Ile)	ERLN, RECQL5 (T9I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358202	NM_001162997.2(ERLN):c.101C>T (p.Ala34Val)	ERLN, RECQL5 (A34V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234432	NM_001162997.2(ERLN):c.29T>C (p.Ile10Thr)	ERLN, RECQL5 (I10T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687680	GRCh37/hg19 17q25.1(chr17:73596063-73959466)x3	ACOX1, FBF1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564473	GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3	CASKIN2, CDK3 +21 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 560048	Single allele	LLGL2, RECQL5 +4 more	Duplication	not provided	GUncertain significance
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	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 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	ACOX1, FBF1 +49 more	Copy number loss	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 22