CCNA2[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC123480933, LOC123480934 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 148260	GRCh38/hg38 4q27(chr4:121164018-122098913)x1	ANXA5, BBS7 +26 more	Copy number loss	See cases	GUncertain significance
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	LOC132089056, LOC132089057 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57894	GRCh38/hg38 4q27(chr4:121636147-122327601)x3	ANXA5, BBS7 +22 more	Copy number gain	See cases	GUncertain significance
Select item 1302278	NM_005033.3(EXOSC9):c.1157-246T>C	CCNA2, EXOSC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2796861	NM_005033.3(EXOSC9):c.1235+16T>A	CCNA2, EXOSC9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1229339	NM_005033.3(EXOSC9):c.1236-54A>G	CCNA2, EXOSC9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2783841	NM_005033.3(EXOSC9):c.1236-13G>A	CCNA2, EXOSC9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1249603	NM_005033.3(EXOSC9):c.1274G>C (p.Ser425Thr)	CCNA2, EXOSC9 (S425T +1 more)	Single nucleotide variant (missense variant +1 more)	EXOSC9-related condition +1 more	GBenign
Select item 2269299	NM_005033.3(EXOSC9):c.1282C>T (p.Pro428Ser)	CCNA2, EXOSC9 (P428S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1943888	NM_005033.3(EXOSC9):c.1283_1303del (p.Pro428_Lys435delinsGln)	CCNA2, EXOSC9	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2112128	NM_005033.3(EXOSC9):c.1301del (p.Lys434fs)	CCNA2, EXOSC9 (K434fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1520919	NM_005033.3(EXOSC9):c.1301AGA[1] (p.Lys435del)	CCNA2, EXOSC9 (K452del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2026046	NM_005033.3(EXOSC9):c.1307G>C (p.Arg436Thr)	CCNA2, EXOSC9 (R453T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2106948	NM_005033.3(EXOSC9):c.1310C>A (p.Ala437Asp)	CCNA2, EXOSC9 (A437D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1431474	NM_005033.3(EXOSC9):c.1313C>T (p.Ala438Val)	CCNA2, EXOSC9 (A455V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1522722	NM_001237.5(CCNA2):c.*784A>C	CCNA2, EXOSC9	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 2390350	NM_001237.5(CCNA2):c.1133G>A (p.Arg378Gln)	CCNA2 (R378Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2262052	NM_001237.5(CCNA2):c.808A>C (p.Ile270Leu)	CCNA2 (I270L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476579	NM_001237.5(CCNA2):c.512G>A (p.Ser171Asn)	CCNA2 (S171N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 767975	NM_001237.5(CCNA2):c.487= (p.Ile163=)	CCNA2	Variation (no sequence alteration)	not provided	GBenign
Select item 743205	NM_001237.5(CCNA2):c.378G>A (p.Leu126=)	CCNA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787278	NM_001237.5(CCNA2):c.334A>G (p.Lys112Glu)	CCNA2 (K112E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2386432	NM_001237.5(CCNA2):c.328G>A (p.Ala110Thr)	CCNA2 (A110T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2227219	NM_001237.5(CCNA2):c.251A>C (p.His84Pro)	CCNA2 (H84P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778159	NM_001237.5(CCNA2):c.222C>A (p.Pro74=)	CCNA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 264770	NM_001237.5(CCNA2):c.214-3_214-2insN	CCNA2	Insertion (intron variant)	not provided	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685989	GRCh37/hg19 4q27(chr4:122547685-123261107)x3	ANXA5, BBS7 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 2427328	NC_000004.11:g.(?_121616266)_(124323706_?)dup	ADAD1, NDNF +17 more	Duplication	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1527121	GRCh37/hg19 4q27(chr4:122577041-122794813)	ANXA5, BBS7 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1410033	NC_000004.11:g.(?_122734369)_(122738011_?)dup	EXOSC9, CCNA2	Duplication	not provided	GUncertain significance
Select item 1410032	NC_000004.11:g.(?_122722580)_(122738011_?)dup	EXOSC9, CCNA2	Duplication	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	ABHD18, ADAD1 +48 more	Copy number loss	not provided	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	FGF2, HSPA4L +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 688822	GRCh37/hg19 4q27(chr4:122547684-123268279)x3	ANXA5, BBS7 +5 more	Copy number gain	not provided	GUncertain significance
Select item 635942	Single allele	ADAD1, ANKRD50 +31 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	AADAT, ABCE1 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic

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Items: 52