ClinVar for Gene (Select 9720) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063493	GRCh37/hg19 17p12-11.2(chr17:15872060-16909718)x3	ADORA2B, CCDC144A +11 more	Copy number gain	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
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 2685598	GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
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 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 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 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 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 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 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 2513396	NM_001382000.1(CCDC144A):c.2330A>G (p.Glu777Gly)	CCDC144A (E777G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506529	GRCh37/hg19 17p11.2(chr17:16664739-20370783)	MPRIP, NT5M +49 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2284770	NM_001382000.1(CCDC144A):c.4142C>G (p.Ala1381Gly)	CCDC144A (L1418V +1 more)	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 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 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 1809485	GRCh37/hg19 17p12-11.2(chr17:15754174-16657319)x3	ADORA2B, CCDC144A +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808102	GRCh37/hg19 17p12-11.2(chr17:15722840-16653256)x3	ADORA2B, CCDC144A +10 more	Copy number gain	not provided	GUncertain significance
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1703565	GRCh37/hg19 17p11.2(chr17:16651292-20286898)	AKAP10, ALDH3A1 +48 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1703553	Single allele	ATPAF2, CCDC144A +17 more	Complex	Potocki-Lupski syndrome	GPathogenic
Select item 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	ALKBH5, ATPAF2 +48 more	Copy number loss	not provided	GPathogenic
Select item 1047866	GRCh37/hg19 17p11.2(chr17:16601603-20063369)	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 980122	GRCh37/hg19 17p12-11.2(chr17:15688146-16769801)x3	CENPV, LRRC75A +10 more	Copy number gain	not provided	GUncertain significance
Select item 980121	GRCh37/hg19 17p12-11.2(chr17:15688146-16756345)x1	UBB, TRPV2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 980120	GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1	ADORA2B, ALKBH5 +37 more	Copy number loss	not provided	GPathogenic
Select item 832395	NC_000017.11:g.(?_16217207)_(16972095_?)dup	CCDC144A, CENPV +7 more	Duplication	not provided	GUncertain significance
Select item 815909	GRCh37/hg19 17p12-11.2(chr17:15722839-16763698)x3	ZSWIM7, ADORA2B +10 more	Copy number gain	not provided	GUncertain significance
Select item 815908	GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1	ADORA2B, ALKBH5 +42 more	Copy number loss	not provided	GPathogenic
Select item 688231	GRCh37/hg19 17p12-11.2(chr17:15722823-16796616)x3	ADORA2B, CCDC144A +10 more	Copy number gain	not provided	GUncertain significance
Select item 686461	GRCh37/hg19 17p12-11.2(chr17:15599193-16756435)x3	ADORA2B, CCDC144A +12 more	Copy number gain	not provided	GUncertain significance
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 442905	GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3	AKAP10, ALDH3A1 +49 more	Copy number gain	See cases	GPathogenic
Select item 442795	GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3	AKAP10, ALDH3A1 +49 more	Copy number gain	See cases	GPathogenic
Select item 442472	GRCh37/hg19 17p12-11.2(chr17:15688146-16727265)x3	ADORA2B, CCDC144A +10 more	Copy number gain	See cases	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395659	GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 394560	GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1	ADORA2B, AKAP10 +59 more	Copy number loss	See cases	GPathogenic
Select item 393895	GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 393717	GRCh37/hg19 17p11.2(chr17:16581147-16631051)x3	CCDC144A	Copy number gain	See cases	GBenign
Select item 253648	GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 253611	GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3	ADORA2B, AKAP10 +59 more	Copy number gain	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 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	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

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