CDKN2C[gene] - ClinVar

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Items: 24

	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 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
Select item 153324	GRCh38/hg38 1p33-32.3(chr1:49807460-51412851)x3	AGBL4, C1orf185 +50 more	Copy number gain	See cases	GUncertain significance
Select item 57108	GRCh38/hg38 1p32.3(chr1:50462649-51149312)x3	C1orf185, CDKN2C +25 more	Copy number gain	See cases	GUncertain significance
Select item 2570726	NM_078626.3(CDKN2C):c.18G>A (p.Gly6=)	CDKN2C	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2610548	NM_078626.3(CDKN2C):c.24G>T (p.Glu8Asp)	CDKN2C (E8D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141669	NM_078626.3(CDKN2C):c.117G>T (p.Arg39Ser)	CDKN2C (R39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 635370	NM_078626.3(CDKN2C):c.129+1G>T	CDKN2C	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 3026540	NM_078626.3(CDKN2C):c.189C>T (p.Pro63=)	CDKN2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 800342	NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu)	CDKN2C (A77E)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 2263658	NM_078626.3(CDKN2C):c.408G>C (p.Lys136Asn)	CDKN2C (K136N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638812	NM_078626.3(CDKN2C):c.477C>T (p.Asn159=)	CDKN2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3141670	NM_078626.3(CDKN2C):c.478G>A (p.Gly160Arg)	CDKN2C (G160R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685804	GRCh37/hg19 1p32.3(chr1:51284375-51569360)x3	C1orf185, CDKN2C +1 more	Copy number gain	not provided	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1334890	Single allele	CDKN2C, FAF1	Deletion	Adrenal cortex carcinoma	GUncertain significance
Select item 814081	GRCh37/hg19 1p32.3(chr1:51148897-51573845)x3	CDKN2C, FAF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	AGBL4, BEND5 +28 more	Copy number loss	not provided	GPathogenic
Select item 688354	GRCh37/hg19 1p32.3(chr1:51223199-51545246)x3	CDKN2C, FAF1	Copy number gain	not provided	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 565095	GRCh37/hg19 1p32.3(chr1:51135986-51475942)x3	FAF1, CDKN2C	Copy number gain	not provided	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: 24