14629[HGNC] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2288672	NM_001256875.2(CDCA8):c.61C>T (p.Leu21Phe)	CDCA8 (L21F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610708	NM_001256875.2(CDCA8):c.107T>C (p.Ile36Thr)	CDCA8 (I36T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308015	NM_001256875.2(CDCA8):c.118G>C (p.Glu40Gln)	CDCA8 (E40Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2381094	NM_001256875.2(CDCA8):c.166A>G (p.Ile56Val)	CDCA8 (I56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290320	NM_001256875.2(CDCA8):c.285A>C (p.Glu95Asp)	CDCA8 (E95D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302517	NM_001256875.2(CDCA8):c.345G>C (p.Lys115Asn)	CDCA8 (K115N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530161	NM_001256875.2(CDCA8):c.401G>A (p.Arg134His)	CDCA8 (R134H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2613897	NM_001256875.2(CDCA8):c.459G>C (p.Gln153His)	CDCA8 (Q153H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515758	NM_001256875.2(CDCA8):c.719G>A (p.Arg240Gln)	CDCA8 (R240Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273090	NM_001256875.2(CDCA8):c.790A>C (p.Lys264Gln)	CDCA8 (K264Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782079	NM_001256875.2(CDCA8):c.798C>T (p.Ser266=)	CDCA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1320033	NM_001256875.2(CDCA8):c.799-8_799-6del	CDCA8	Deletion (intron variant)	Neutrophil inclusion bodies	GLikely pathogenic
Select item 2426871	NC_000001.10:g.(?_38003349)_(38273852_?)dup	EPHA10, GNL2 +8 more	Duplication	not provided	GUncertain significance
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	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 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 443349	GRCh37/hg19 1p34.3(chr1:37766562-38727114)x3	C1orf109, C1orf122 +16 more	Copy number gain	See cases	GLikely benign
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

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Items: 22