CCDC144A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 154979	GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1	ADORA2B, CCDC144A +137 more	Copy number loss	See cases	GPathogenic
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 more	Copy number gain	See cases	GPathogenic
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 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 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 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	LOC130060335, LOC130060336 +217 more	Copy number loss	See cases	GPathogenic
Select item 153341	GRCh38/hg38 17p12-11.2(chr17:15784832-16860143)x3	ADORA2B, CCDC144A +64 more	Copy number gain	See cases	GUncertain significance
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 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 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 145256	GRCh38/hg38 17p11.2(chr17:16624420-16819465)x3	CCDC144A, FAM106C +5 more	Copy number gain	See cases	GBenign
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 3138470	NM_001382000.1(CCDC144A):c.98G>A (p.Gly33Glu)	CCDC144A (G33E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2318990	NM_001382000.1(CCDC144A):c.131A>G (p.Gln44Arg)	CCDC144A (Q44R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263909	NM_001382000.1(CCDC144A):c.244G>A (p.Gly82Ser)	CCDC144A (G82S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263906	NM_001382000.1(CCDC144A):c.292C>A (p.His98Asn)	CCDC144A (H98N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2548400	NM_001382000.1(CCDC144A):c.466A>C (p.Lys156Gln)	CCDC144A (K156Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230600	NM_001382000.1(CCDC144A):c.467A>G (p.Lys156Arg)	CCDC144A (K156R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291324	NM_001382000.1(CCDC144A):c.566G>C (p.Arg189Pro)	CCDC144A (R189P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223141	NM_001382000.1(CCDC144A):c.572A>T (p.Lys191Met)	CCDC144A (K191M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591902	NM_001382000.1(CCDC144A):c.580A>C (p.Thr194Pro)	CCDC144A (T194P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488503	NM_001382000.1(CCDC144A):c.613C>T (p.Leu205Phe)	CCDC144A (L205F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025424	NM_001382000.1(CCDC144A):c.696A>G (p.Glu232=)	CCDC144A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2222659	NM_001382000.1(CCDC144A):c.755C>A (p.Pro252Gln)	CCDC144A (P252Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374186	NM_001382000.1(CCDC144A):c.762G>A (p.Met254Ile)	CCDC144A (M254I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345971	NM_001382000.1(CCDC144A):c.775G>A (p.Asp259Asn)	CCDC144A (D259N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138468	NM_001382000.1(CCDC144A):c.791C>G (p.Pro264Arg)	CCDC144A (P264R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263902	NM_001382000.1(CCDC144A):c.793A>G (p.Ile265Val)	CCDC144A (I265V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3138469	NM_001382000.1(CCDC144A):c.811C>T (p.His271Tyr)	CCDC144A (H271Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391123	NM_001382000.1(CCDC144A):c.880G>A (p.Val294Ile)	CCDC144A (V294I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2480699	NM_001382000.1(CCDC144A):c.1030T>C (p.Cys344Arg)	CCDC144A (C344R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138453	NM_001382000.1(CCDC144A):c.1081T>C (p.Phe361Leu)	CCDC144A (F361L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411205	NM_001382000.1(CCDC144A):c.1085C>A (p.Pro362His)	CCDC144A (P362H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263908	NM_001382000.1(CCDC144A):c.1216G>A (p.Asp406Asn)	CCDC144A (D406N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538873	NM_001382000.1(CCDC144A):c.1268A>G (p.Asn423Ser)	CCDC144A (N423S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138454	NM_001382000.1(CCDC144A):c.1401A>C (p.Lys467Asn)	CCDC144A (K467N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138455	NM_001382000.1(CCDC144A):c.1481A>T (p.Glu494Val)	CCDC144A (E494V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138456	NM_001382000.1(CCDC144A):c.1538T>C (p.Phe513Ser)	CCDC144A (F513S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303102	NM_001382000.1(CCDC144A):c.1592T>C (p.Met531Thr)	CCDC144A (M531T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473149	NM_001382000.1(CCDC144A):c.1628G>T (p.Gly543Val)	CCDC144A (G543V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138457	NM_001382000.1(CCDC144A):c.1665T>G (p.Asp555Glu)	CCDC144A (D555E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2617256	NM_001382000.1(CCDC144A):c.1904T>C (p.Leu635Pro)	CCDC144A (L635P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138459	NM_001382000.1(CCDC144A):c.2025T>A (p.Asn675Lys)	CCDC144A (N675K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2465545	NM_001382000.1(CCDC144A):c.2029C>G (p.Leu677Val)	CCDC144A (L677V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617782	NM_001382000.1(CCDC144A):c.2078A>G (p.Glu693Gly)	CCDC144A (E693G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513396	NM_001382000.1(CCDC144A):c.2330A>G (p.Glu777Gly)	CCDC144A (E777G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 154919	GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1	MIR6778, MPRIP +158 more	Copy number loss	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 146492	GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1	ALKBH5, ATPAF2 +141 more	Copy number loss	See cases	GPathogenic
Select item 2294553	NM_001382000.1(CCDC144A):c.2448T>A (p.Asp816Glu)	CCDC144A (D816E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464647	NM_001382000.1(CCDC144A):c.2563G>C (p.Ala855Pro)	CCDC144A (A855P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138460	NM_001382000.1(CCDC144A):c.2597T>G (p.Ile866Ser)	CCDC144A (I866S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494479	NM_001382000.1(CCDC144A):c.2615A>T (p.Glu872Val)	CCDC144A (E872V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410074	NM_001382000.1(CCDC144A):c.2660A>G (p.Asn887Ser)	CCDC144A (N887S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471492	NM_001382000.1(CCDC144A):c.2774G>A (p.Arg925His)	CCDC144A (R925H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3138462	NM_001382000.1(CCDC144A):c.2839T>G (p.Trp947Gly)	CCDC144A (W947G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138463	NM_001382000.1(CCDC144A):c.2866G>T (p.Val956Phe)	CCDC144A (V956F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2374285	NM_001382000.1(CCDC144A):c.2870A>G (p.Asp957Gly)	CCDC144A (D957G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138464	NM_001382000.1(CCDC144A):c.2906C>T (p.Ser969Phe)	CCDC144A (S969F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138465	NM_001382000.1(CCDC144A):c.3068T>C (p.Ile1023Thr)	CCDC144A (I1023T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2396201	NM_001382000.1(CCDC144A):c.3068T>A (p.Ile1023Asn)	CCDC144A (I1023N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3263904	NM_001382000.1(CCDC144A):c.3097G>T (p.Ala1033Ser)	CCDC144A (A1033S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263903	NM_001382000.1(CCDC144A):c.3194G>C (p.Ser1065Thr)	CCDC144A (S1065T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349904	NM_001382000.1(CCDC144A):c.3208A>G (p.Ser1070Gly)	CCDC144A (S1070G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138466	NM_001382000.1(CCDC144A):c.3299A>C (p.Lys1100Thr)	CCDC144A (K1100T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493200	NM_001382000.1(CCDC144A):c.3308T>C (p.Met1103Thr)	CCDC144A (M1103T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533014	NM_001382000.1(CCDC144A):c.3361G>T (p.Ala1121Ser)	CCDC144A (A1121S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3138467	NM_001382000.1(CCDC144A):c.3401T>C (p.Val1134Ala)	CCDC144A (V1134A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3263905	NM_001382000.1(CCDC144A):c.3607G>A (p.Glu1203Lys)	CCDC144A (E1203K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292359	NM_001382000.1(CCDC144A):c.3741G>A (p.Met1247Ile)	CCDC144A (M1247I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540690	NM_001382000.1(CCDC144A):c.3757G>A (p.Asp1253Asn)	CCDC144A (D1253N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2349049	NM_001382000.1(CCDC144A):c.3759T>A (p.Asp1253Glu)	CCDC144A (D1253E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342611	NM_001382000.1(CCDC144A):c.3814G>A (p.Glu1272Lys)	CCDC144A (E1272K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263899	NM_001382000.1(CCDC144A):c.3949T>G (p.Ser1317Ala)	CCDC144A (S1317A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263907	NM_001382000.1(CCDC144A):c.4003G>T (p.Val1335Phe)	CCDC144A (V1335F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263901	NM_001382000.1(CCDC144A):c.4043A>G (p.His1348Arg)	CCDC144A (H1348R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 545218	NC_000017.11:g.(?_16770855)_(20585863_?)del	AKAP10, ALDH3A1 +252 more	Deletion	Autism	GPathogenic

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