ClinVar for Gene (Select 127795) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063410	GRCh37/hg19 1p32.1-31.3(chr1:59121165-62057570)x1	C1orf87, CYP2J2 +5 more	Copy number loss	not specified	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2241135	NM_152377.3(C1orf87):c.631G>A (p.Gly211Arg)	C1orf87, LOC126805742 (G211R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238924	NM_152377.3(C1orf87):c.1484T>C (p.Val495Ala)	C1orf87 (V495A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238525	NM_152377.3(C1orf87):c.746T>C (p.Met249Thr)	C1orf87, LOC126805742 (M249T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204898	NM_152377.3(C1orf87):c.1418C>T (p.Thr473Met)	C1orf87 (T473M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	JUN, KANK4 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 710873	NM_152377.3(C1orf87):c.1495G>T (p.Glu499Ter)	C1orf87 (E499*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 666427	Single allele	ITGB3BP, JAK1 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221778	GRCh37/hg19 1p32.1(chr1:59891821-61162222)x3	C1orf87, CYP2J2 +2 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC129930848, LOC129930849 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	AK4, ALG6 +270 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 59358	GRCh38/hg38 1p32.1-31.3(chr1:59871038-62029355)x1	C1orf87, CYP2J2 +32 more	Copy number loss	See cases	GUncertain significance
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 23