ClinVar for Gene (Select 149473) - ClinVar

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Links from Gene

Items: 33

	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 2638764	NM_152499.4(CCDC24):c.291C>T (p.Ile97=)	CCDC24	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2612172	NM_152499.4(CCDC24):c.890C>T (p.Pro297Leu)	CCDC24 (P163L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530038	NM_152499.4(CCDC24):c.282C>G (p.His94Gln)	CCDC24 (H94Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2517479	NM_152499.4(CCDC24):c.399G>T (p.Gln133His)	CCDC24 (Q133H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487323	NM_152499.4(CCDC24):c.245G>A (p.Arg82His)	CCDC24 (R82H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467670	NM_152499.4(CCDC24):c.743C>T (p.Pro248Leu)	CCDC24 (P260L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2425558	NC_000001.10:g.(?_44360035)_(44482805_?)dup	ARTN, ATP6V0B +6 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2384400	NM_152499.4(CCDC24):c.43C>G (p.His15Asp)	CCDC24 (H15D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2374392	NM_152499.4(CCDC24):c.563A>G (p.Glu188Gly)	CCDC24 (E188G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349879	NM_152499.4(CCDC24):c.155A>G (p.Glu52Gly)	CCDC24 (E52G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296335	NM_152499.4(CCDC24):c.290T>C (p.Ile97Thr)	CCDC24 (I97T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281374	NM_152499.4(CCDC24):c.305A>G (p.Asp102Gly)	CCDC24 (D102G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275306	NM_152499.4(CCDC24):c.440G>T (p.Ser147Ile)	CCDC24 (S147I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269751	NM_152499.4(CCDC24):c.394T>C (p.Phe132Leu)	CCDC24 (F132L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247609	NM_152499.4(CCDC24):c.88G>C (p.Glu30Gln)	CCDC24 (E30Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2245380	NM_152499.4(CCDC24):c.253C>T (p.Leu85Phe)	CCDC24 (L85F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	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 1515804	NC_000001.10:g.(?_44360035)_(44482805_?)del	ATP6V0B, B4GALT2 +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 814068	GRCh37/hg19 1p34.1(chr1:44424878-45207102)x1	IPO13, ERI3 +11 more	Copy number loss	not provided	GUncertain significance
Select item 689310	GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1	ARTN, ATP6V0B +24 more	Copy number loss	not provided	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 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 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic
Select item 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	LOC112590795, LOC122056854 +88 more	Copy number gain	See cases	GUncertain significance
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 33