AKAP10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	See cases	GPathogenic
Select item 150743	GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58110	GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 58113	GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 155314	GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	LOC130060442, LOC130060443 +251 more	Copy number gain	See cases	GPathogenic
Select item 151506	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	MYO15A, NT5M +252 more	Copy number gain	See cases	GPathogenic
Select item 155114	GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1	AKAP10, ALDH3A1 +249 more	Copy number loss	See cases	GPathogenic
Select item 152261	GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 148912	GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58115	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	AKAP10, ALDH3A1 +253 more	Copy number gain	See cases	GPathogenic
Select item 58126	GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	LOC130060419, LOC130060420 +248 more	Copy number gain	See cases	GPathogenic
Select item 155350	GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 146755	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 146754	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	LOC130060406, LOC130060407 +248 more	Copy number gain	See cases	GPathogenic
Select item 147821	GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 147756	GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58127	GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 60437	GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1	AKAP10, ALDH3A1 +247 more	Copy number loss	See cases	GPathogenic
Select item 58128	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	AKAP10, ALDH3A1 +250 more	Copy number gain	See cases	GPathogenic
Select item 545218	NC_000017.11:g.(?_16770855)_(20585863_?)del	AKAP10, ALDH3A1 +252 more	Deletion	Autism	GPathogenic
Select item 545217	Single allele	DRC3, LOC130060351 +248 more	Duplication	Autism	GPathogenic
Select item 60455	GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 58132	GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 58131	GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3	AKAP10, ALDH3A1 +243 more	Copy number gain	See cases	GPathogenic
Select item 153671	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	AKAP10, ALDH3A1 +244 more	Copy number loss	See cases	GPathogenic
Select item 155529	GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	AKAP10, ALDH3A1 +243 more	Copy number loss	See cases	GPathogenic
Select item 150319	GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 149203	GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 145065	GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3	LOC130060411, LOC130060412 +245 more	Copy number gain	See cases	GPathogenic
Select item 60457	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	AKAP10, ALDH3A1 +245 more	Copy number loss	See cases	GPathogenic
Select item 60456	GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 155143	GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 153822	GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 144213	GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	SLC5A10, SMCR2 +242 more	Copy number gain	See cases	GPathogenic
Select item 57035	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 57034	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3	AKAP10, ALDH3A1 +242 more	Copy number gain	See cases	GPathogenic
Select item 146753	GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 58134	GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3	AKAP10, ALDH3A1 +241 more	Copy number gain	See cases	GPathogenic
Select item 150379	GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1	AKAP10, ALDH3A1 +226 more	Copy number loss	See cases	GPathogenic
Select item 152568	GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1	AKAP10, ALDH3A1 +220 more	Copy number loss	See cases	GPathogenic
Select item 146614	GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1	AKAP10, ALDH3A1 +187 more	Copy number loss	See cases	GPathogenic
Select item 60134	GRCh38/hg38 17p11.2(chr17:18828089-20467764)x3	AKAP10, ALDH3A1 +91 more	Copy number gain	See cases	GUncertain significance
Select item 31103	NC_000017.11:g.(?_18856298)_(20402192_?)del	AKAP10, ALDH3A1 +87 more	Deletion	Meckel syndrome, type 9	GPathogenic
Select item 148929	GRCh38/hg38 17p11.2(chr17:18859289-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 144242	GRCh38/hg38 17p11.2(chr17:18872617-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GPathogenic
Select item 60135	GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3	AKAP10, ALDH3A1 +116 more	Copy number gain	See cases	GUncertain significance
Select item 154666	GRCh38/hg38 17p11.2(chr17:19744033-21598663)x3	AKAP10, ALDH3A1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 391023	NM_007202.4(AKAP10):c.1972A>G (p.Lys658Glu)	AKAP10 (K658E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2606804	NM_007202.4(AKAP10):c.1963C>A (p.Pro655Thr)	AKAP10 (P655T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104532	NM_007202.4(AKAP10):c.1946A>G (p.Gln649Arg)	AKAP10 (Q649R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 5404	NM_007202.4(AKAP10):c.1936A>G (p.Ile646Val)	AKAP10 (I646V +1 more)	Single nucleotide variant (missense variant)	AKAP10-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3280336	NM_007202.4(AKAP10):c.1750G>A (p.Gly584Arg)	AKAP10 (G526R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478463	NM_007202.4(AKAP10):c.1693A>G (p.Ile565Val)	AKAP10 (I507V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266505	NM_007202.4(AKAP10):c.1691C>T (p.Ala564Val)	AKAP10 (A506V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055540	NM_007202.4(AKAP10):c.1641+6G>A	AKAP10	Single nucleotide variant (intron variant)	AKAP10-related disorder	GBenign
Select item 3104526	NM_007202.4(AKAP10):c.1630T>G (p.Ser544Ala)	AKAP10 (S544A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104524	NM_007202.4(AKAP10):c.1609C>T (p.His537Tyr)	AKAP10 (H537Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210180	NM_007202.4(AKAP10):c.1606T>A (p.Ser536Thr)	AKAP10 (S536T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280303	NM_007202.4(AKAP10):c.1583G>T (p.Gly528Val)	AKAP10 (G528V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041825	NM_007202.4(AKAP10):c.1568C>T (p.Ser523Leu)	AKAP10 (S523L)	Single nucleotide variant (missense variant +1 more)	AKAP10-related disorder	GBenign
Select item 3280293	NM_007202.4(AKAP10):c.1556G>A (p.Gly519Asp)	AKAP10 (G519D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2585217	NM_007202.4(AKAP10):c.1467+5C>A	AKAP10	Single nucleotide variant (intron variant)	Conduction disorder of the heart	GUncertain significance
Select item 2601649	NM_007202.4(AKAP10):c.1442G>A (p.Arg481His)	AKAP10 (R481H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048722	NM_007202.4(AKAP10):c.1323-4A>G	AKAP10	Single nucleotide variant (intron variant)	AKAP10-related disorder	GLikely benign
Select item 2394811	NM_007202.4(AKAP10):c.1227G>C (p.Trp409Cys)	AKAP10 (W409C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394810	NM_007202.4(AKAP10):c.1226G>T (p.Trp409Leu)	AKAP10 (W409L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034228	NM_007202.4(AKAP10):c.1221A>G (p.Gln407=)	AKAP10	Single nucleotide variant (synonymous variant)	AKAP10-related disorder	GLikely benign
Select item 2589338	NM_007202.4(AKAP10):c.1107G>C (p.Gln369His)	AKAP10 (Q369H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104504	NM_007202.4(AKAP10):c.1021G>A (p.Val341Ile)	AKAP10 (V341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040781	NM_007202.4(AKAP10):c.1020C>T (p.Phe340=)	AKAP10	Single nucleotide variant (synonymous variant)	AKAP10-related disorder	GLikely benign
Select item 3280332	NM_007202.4(AKAP10):c.1013A>G (p.Asn338Ser)	AKAP10 (N338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280272	NM_007202.4(AKAP10):c.998G>A (p.Gly333Glu)	AKAP10 (G333E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594676	NM_007202.4(AKAP10):c.977C>G (p.Ala326Gly)	AKAP10 (A326G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280283	NM_007202.4(AKAP10):c.958A>G (p.Met320Val)	AKAP10 (M320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485607	NM_007202.4(AKAP10):c.890A>T (p.Asp297Val)	AKAP10 (D297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207421	NM_007202.4(AKAP10):c.878G>A (p.Ser293Asn)	AKAP10 (S293N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327130	NM_007202.4(AKAP10):c.850A>G (p.Lys284Glu)	AKAP10 (K284E)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME	GUncertain significance
Select item 3280263	NM_007202.4(AKAP10):c.838G>A (p.Ala280Thr)	AKAP10 (A280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104574	NM_007202.4(AKAP10):c.821C>T (p.Ala274Val)	AKAP10 (A274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475172	NM_007202.4(AKAP10):c.803C>T (p.Ser268Phe)	AKAP10 (S268F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361557	NM_007202.4(AKAP10):c.778G>A (p.Val260Ile)	AKAP10 (V260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104562	NM_007202.4(AKAP10):c.762A>C (p.Arg254Ser)	AKAP10 (R254S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059344	NM_007202.4(AKAP10):c.746G>A (p.Arg249His)	AKAP10 (R249H)	Single nucleotide variant (missense variant)	AKAP10-related disorder	GBenign
Select item 3280324	NM_007202.4(AKAP10):c.727G>A (p.Asp243Asn)	AKAP10 (D243N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459264	NM_007202.4(AKAP10):c.691A>C (p.Ser231Arg)	AKAP10 (S231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104559	NM_007202.4(AKAP10):c.668T>C (p.Ile223Thr)	AKAP10 (I223T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045328	NM_007202.4(AKAP10):c.618A>G (p.Arg206=)	AKAP10	Single nucleotide variant (synonymous variant)	AKAP10-related disorder	GLikely benign
Select item 3104555	NM_007202.4(AKAP10):c.560C>T (p.Ser187Phe)	AKAP10 (S187F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280312	NM_007202.4(AKAP10):c.523A>C (p.Asn175His)	AKAP10 (N175H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104550	NM_007202.4(AKAP10):c.505A>G (p.Ile169Val)	AKAP10 (I169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104546	NM_007202.4(AKAP10):c.500C>T (p.Ser167Leu)	AKAP10 (S167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262011	NM_007202.4(AKAP10):c.268A>G (p.Thr90Ala)	AKAP10 (T90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524050	NM_007202.4(AKAP10):c.217A>G (p.Ile73Val)	AKAP10 (I73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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