ClinVar for Gene (Select 8852) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280797	NM_003886.3(AKAP4):c.1869A>T (p.Lys623Asn)	AKAP4 (K623N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3106019	NM_003886.3(AKAP4):c.593C>T (p.Pro198Leu)	AKAP4 (P198L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105994	NM_003886.3(AKAP4):c.2204A>C (p.Asn735Thr)	AKAP4 (N735T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105988	NM_003886.3(AKAP4):c.2191G>C (p.Ala731Pro)	AKAP4 (A722P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105983	NM_003886.3(AKAP4):c.2145C>A (p.Ser715Arg)	AKAP4 (S706R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105974	NM_003886.3(AKAP4):c.1898T>G (p.Leu633Arg)	AKAP4 (L624R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105970	NM_003886.3(AKAP4):c.1841A>G (p.Lys614Arg)	AKAP4 (K614R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105956	NM_003886.3(AKAP4):c.13T>A (p.Ser5Thr)	AKAP4 (S5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105950	NM_003886.3(AKAP4):c.1268T>C (p.Met423Thr)	AKAP4 (M423T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105945	NM_003886.3(AKAP4):c.116G>A (p.Arg39Gln)	AKAP4 (R30Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105939	NM_003886.3(AKAP4):c.1167C>A (p.Asn389Lys)	AKAP4 (N380K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105934	NM_003886.3(AKAP4):c.1157G>T (p.Cys386Phe)	AKAP4 (C386F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684980	GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	AKAP4, BMP15 +75 more	Copy number gain	not provided	GPathogenic
Select item 2673232	NM_003886.3(AKAP4):c.264A>T (p.Lys88Asn)	AKAP4 (K79N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2673231	NM_003886.3(AKAP4):c.2235T>C (p.Gly745=)	AKAP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660541	NM_003886.3(AKAP4):c.108T>C (p.Asp36=)	AKAP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660540	NM_003886.3(AKAP4):c.1209T>C (p.Phe403=)	AKAP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660539	NM_003886.3(AKAP4):c.1341A>G (p.Ser447=)	AKAP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599075	NM_003886.3(AKAP4):c.1778C>T (p.Ala593Val)	AKAP4 (A593V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530261	NM_003886.3(AKAP4):c.1286G>A (p.Arg429His)	AKAP4 (R429H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2530029	NM_003886.3(AKAP4):c.913G>A (p.Glu305Lys)	AKAP4 (E305K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2481962	NM_003886.3(AKAP4):c.239T>A (p.Ile80Asn)	AKAP4 (I71N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469493	NM_003886.3(AKAP4):c.2312A>C (p.Gln771Pro)	AKAP4 (Q762P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	AKAP4, ARAF +91 more	Deletion	not provided	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	GAGE12E, GAGE12F +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCDC120, CCDC22 +60 more	Duplication	SLC35A2-congenital disorder of glycosylation +4 more	GUncertain significance
Select item 2410888	NM_003886.3(AKAP4):c.172A>G (p.Lys58Glu)	AKAP4 (K58E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408229	NM_003886.3(AKAP4):c.140T>G (p.Val47Gly)	AKAP4 (V38G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408181	NM_003886.3(AKAP4):c.809T>C (p.Ile270Thr)	AKAP4 (I270T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376453	NM_003886.3(AKAP4):c.2542G>A (p.Asp848Asn)	AKAP4 (D839N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374684	NM_003886.3(AKAP4):c.302A>G (p.Lys101Arg)	AKAP4 (K92R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342759	NM_003886.3(AKAP4):c.280G>C (p.Glu94Gln)	AKAP4 (E85Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330250	NM_003886.3(AKAP4):c.802A>G (p.Ser268Gly)	AKAP4 (S259G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315812	NM_003886.3(AKAP4):c.595C>T (p.Pro199Ser)	AKAP4 (P190S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300428	NM_003886.3(AKAP4):c.1792G>A (p.Val598Met)	AKAP4 (V589M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265731	NM_003886.3(AKAP4):c.781A>C (p.Ile261Leu)	AKAP4 (I252L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242038	NM_003886.3(AKAP4):c.550A>G (p.Asn184Asp)	AKAP4 (N184D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242037	NM_003886.3(AKAP4):c.140T>C (p.Val47Ala)	AKAP4 (V38A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228945	NM_003886.3(AKAP4):c.800C>T (p.Ala267Val)	AKAP4 (A267V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227213	NM_003886.3(AKAP4):c.2093A>G (p.Asp698Gly)	AKAP4 (D698G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1676600	Single allele	NUDT10, NUDT11 +22 more	Deletion	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1676599	Single allele	USP27X, AKAP4 +9 more	Deletion	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1206334	NM_003886.3(AKAP4):c.1888G>A (p.Val630Ile)	AKAP4 (V621I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1180517	GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2	FAM156B, FOXP3 +109 more	Copy number gain	not provided	GPathogenic
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 979778	GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2	AKAP4, BMP15 +73 more	Copy number gain	not provided	GPathogenic
Select item 979777	GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2	AKAP4, BMP15 +74 more	Copy number gain	not provided	GPathogenic
Select item 816349	GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3	AKAP4, BMP15 +60 more	Copy number gain	not provided	GPathogenic
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687087	GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2	NUDT10, NUDT11 +73 more	Copy number gain	not provided	GPathogenic
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ABCB7, AKAP4 +281 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564842	GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1	AKAP4, BMP15 +72 more	Copy number loss	not provided	GPathogenic
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	PNMA5, PNMA6A +695 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 443190	GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4	AKAP4, BMP15 +67 more	Copy number gain	See cases	GPathogenic
Select item 443184	GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3	AKAP4, BMP15 +74 more	Copy number gain	See cases	GPathogenic
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	SYN1, SYP +294 more	Copy number loss	See cases	GPathogenic
Select item 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	ABCB7, AKAP4 +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +390 more	Copy number loss	See cases	GPathogenic
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	AP1S2, APEX2 +300 more	Copy number loss	See cases	GPathogenic
Select item 442067	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	ARSF, XAGE2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441968	GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	AP1S2, APEX2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441856	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	WDR45, WNK3 +313 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	BEX4, BEX5 +566 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	TMLHE, TMSB15A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	BEX1, BEX2 +819 more	Copy number gain	See cases	GPathogenic

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