ANAPC5[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	ANKLE2, ARL6IP4 +906 more	Copy number gain	See cases	GPathogenic
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 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	ZNF664, ZNF664-RFLNA +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	ACADS, ANAPC5 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	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 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	LOC130009086, LOC130009087 +416 more	Copy number loss	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 2613060	NM_016237.5(ANAPC5):c.2263C>G (p.Leu755Val)	ANAPC5 (L643V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243978	NM_016237.5(ANAPC5):c.2198G>A (p.Cys733Tyr)	ANAPC5 (C720Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314893	NM_016237.5(ANAPC5):c.2042C>T (p.Pro681Leu)	ANAPC5 (P681L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2264861	NM_016237.5(ANAPC5):c.1799C>T (p.Ala600Val)	ANAPC5 (A587V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241233	NM_016237.5(ANAPC5):c.1778G>A (p.Arg593Gln)	ANAPC5 (R481Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539309	NM_016237.5(ANAPC5):c.1727A>T (p.Asn576Ile)	ANAPC5 (N464I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455814	NM_016237.5(ANAPC5):c.1493C>T (p.Pro498Leu)	ANAPC5 (P498L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529958	NM_016237.5(ANAPC5):c.1459T>C (p.Ser487Pro)	ANAPC5 (S487P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2317962	NM_016237.5(ANAPC5):c.1108C>T (p.His370Tyr)	ANAPC5 (H370Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 condition	GLikely benign
Select item 2288201	NM_016237.5(ANAPC5):c.1006G>A (p.Asp336Asn)	ANAPC5 (D237N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211360	NM_016237.5(ANAPC5):c.1004A>G (p.Asn335Ser)	ANAPC5 (N236S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2555893	NM_016237.5(ANAPC5):c.544G>A (p.Glu182Lys)	ANAPC5 (E182K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247001	NM_016237.5(ANAPC5):c.508G>A (p.Val170Met)	ANAPC5 (V71M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2319715	NM_016237.5(ANAPC5):c.158G>A (p.Ser53Asn)	ANAPC5, LOC130008971 (S53N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	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)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +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

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Items: 36