ClinVar for Gene (Select 55028) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685607	GRCh37/hg19 17q24.3-25.1(chr17:69501527-71380722)x1	CDC42EP4, COG1 +7 more	Copy number loss	not provided	GPathogenic
Select item 2295033	NM_001351264.2(C17orf80):c.1801G>A (p.Asp601Asn)	C17orf80, CPSF4L (D601N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255271	NM_001351264.2(C17orf80):c.1663G>A (p.Gly555Ser)	CPSF4L, C17orf80 (G555S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207690	NM_001351264.2(C17orf80):c.1235C>T (p.Ser412Phe)	C17orf80 (S412F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207623	NM_001351264.2(C17orf80):c.667G>A (p.Val223Met)	C17orf80 (V223M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
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 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +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 219338	NM_001351264.2(C17orf80):c.973C>T (p.Arg325Trp)	C17orf80 (R325W)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
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 152856	GRCh38/hg38 17q25.1(chr17:73031361-73264388)x3	C17orf80, COG1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic