ClinVar for Gene (Select 51433) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244353	NC_000012.11:g.(?_121416034)_(122985387_?)del	ANAPC5, B3GNT4 +24 more	Deletion	not provided	GPathogenic
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	CDK2AP1, DIABLO +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3118012	NM_016237.5(ANAPC5):c.986G>A (p.Arg329Lys)	ANAPC5 (R230K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118009	NM_016237.5(ANAPC5):c.517G>A (p.Ala173Thr)	ANAPC5 (A74T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117976	NM_016237.5(ANAPC5):c.1433C>T (p.Ala478Val)	ANAPC5 (A478V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117971	NM_016237.5(ANAPC5):c.1352T>C (p.Leu451Pro)	ANAPC5 (L451P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117968	NM_016237.5(ANAPC5):c.1351C>G (p.Leu451Val)	ANAPC5 (L339V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068102	NM_016237.5(ANAPC5):c.657+1G>A	ANAPC5	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3045645	NM_016237.5(ANAPC5):c.1097A>G (p.Lys366Arg)	ANAPC5 (K267R +1 more)	Single nucleotide variant (missense variant)	ANAPC5-related disorder	GLikely benign
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2613060	NM_016237.5(ANAPC5):c.2263C>G (p.Leu755Val)	ANAPC5 (L643V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2555893	NM_016237.5(ANAPC5):c.544G>A (p.Glu182Lys)	ANAPC5 (E182K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539309	NM_016237.5(ANAPC5):c.1727A>T (p.Asn576Ile)	ANAPC5 (N464I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529958	NM_016237.5(ANAPC5):c.1459T>C (p.Ser487Pro)	ANAPC5 (S487P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455814	NM_016237.5(ANAPC5):c.1493C>T (p.Pro498Leu)	ANAPC5 (P498L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338887	NM_016237.5(ANAPC5):c.244A>G (p.Ile82Val)	ANAPC5 (I82V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2319715	NM_016237.5(ANAPC5):c.158G>A (p.Ser53Asn)	ANAPC5, LOC130008971 (S53N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317962	NM_016237.5(ANAPC5):c.1108C>T (p.His370Tyr)	ANAPC5 (H370Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314893	NM_016237.5(ANAPC5):c.2042C>T (p.Pro681Leu)	ANAPC5 (P681L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2288201	NM_016237.5(ANAPC5):c.1006G>A (p.Asp336Asn)	ANAPC5 (D237N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264861	NM_016237.5(ANAPC5):c.1799C>T (p.Ala600Val)	ANAPC5 (A587V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247001	NM_016237.5(ANAPC5):c.508G>A (p.Val170Met)	ANAPC5 (V71M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243978	NM_016237.5(ANAPC5):c.2198G>A (p.Cys733Tyr)	ANAPC5 (C720Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241233	NM_016237.5(ANAPC5):c.1778G>A (p.Arg593Gln)	ANAPC5 (R481Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211360	NM_016237.5(ANAPC5):c.1004A>G (p.Asn335Ser)	ANAPC5 (N236S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808547	GRCh37/hg19 12q24.31(chr12:121551496-121771295)x3	ANAPC5, CAMKK2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 394621	GRCh37/hg19 12q24.31(chr12:121441298-122107345)x3	ANAPC5, C12orf43 +8 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 145853	GRCh38/hg38 12q24.31(chr12:121110993-121325874)x3	ANAPC5, CAMKK2 +11 more	Copy number gain	See cases	GLikely benign
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	CFAP251, CIT +264 more	Copy number gain	See cases	GUncertain significance
Select item 57610	GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1	ANAPC5, B3GNT4 +127 more	Copy number loss	See cases	GPathogenic
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 43