JUN[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +421 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 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 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 1706623	NM_002228.4(JUN):c.659del (p.Pro220fs)	JUN, LOC129930620 (P220fs)	Deletion (frameshift variant)	Breast neoplasm	GPathogenic
Select item 56164	NM_002228.4(JUN):c.658C>G (p.Pro220Ala)	LOC129930620, JUN (P220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532062	NM_002228.4(JUN):c.559G>T (p.Ala187Ser)	JUN (A187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112558	NM_002228.4(JUN):c.473G>A (p.Gly158Asp)	JUN (G158D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737246	NM_002228.4(JUN):c.465C>T (p.Gly155=)	JUN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3112557	NM_002228.4(JUN):c.394T>C (p.Ser132Pro)	JUN (S132P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720254	NM_002228.4(JUN):c.219G>T (p.Ser73=)	JUN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2361623	NM_002228.4(JUN):c.40C>T (p.Leu14Phe)	JUN (L14F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 929333	GRCh37/hg19 1p32.2-32.1(chr1:58346207-59924256)x3	DAB1, FGGY +4 more	Copy number gain	See cases	GUncertain significance
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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 20