83450[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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	FAM106A, FAM106B +248 more	Duplication	Autism	GPathogenic
Select item 60439	GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1	ALKBH5, ATPAF2 +138 more	Copy number loss	See cases	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 57224	GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3	ALKBH5, ATPAF2 +161 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 153282	GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1	LOC130060377, LOC130060378 +143 more	Copy number loss	See cases	GPathogenic
Select item 60458	GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1	LOC125177431, LOC125177432 +117 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 58694	GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3	ALKBH5, ATPAF2 +67 more	Copy number gain	See cases	GPathogenic
Select item 150383	GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3	ALKBH5, ATPAF2 +70 more	Copy number gain	See cases	GLikely benign
Select item 146600	GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1	ALKBH5, ATPAF2 +54 more	Copy number loss	See cases	GPathogenic
Select item 2647534	NM_031294.4(DRC3):c.21G>T (p.Ser7=)	DRC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3085739	NM_031294.4(DRC3):c.64G>A (p.Val22Ile)	DRC3 (V22I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085735	NM_031294.4(DRC3):c.161A>G (p.Asn54Ser)	DRC3 (N54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085736	NM_031294.4(DRC3):c.163A>G (p.Ile55Val)	DRC3 (I55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647535	NM_031294.4(DRC3):c.205A>G (p.Lys69Glu)	DRC3 (K69E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3085737	NM_031294.4(DRC3):c.245G>T (p.Gly82Val)	DRC3 (G82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472333	NM_031294.4(DRC3):c.268G>C (p.Val90Leu)	DRC3 (V90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246628	NM_031294.4(DRC3):c.304A>G (p.Ile102Val)	DRC3 (I102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315368	NM_031294.4(DRC3):c.359G>A (p.Arg120Gln)	DRC3 (R120Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456930	NM_031294.4(DRC3):c.391G>A (p.Val131Ile)	DRC3 (V131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395257	NM_031294.4(DRC3):c.416G>A (p.Gly139Asp)	DRC3 (G139D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085738	NM_031294.4(DRC3):c.574C>T (p.Arg192Cys)	DRC3 (R192C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222031	NM_031294.4(DRC3):c.575G>A (p.Arg192His)	DRC3 (R192H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217679	NM_031294.4(DRC3):c.652C>G (p.Leu218Val)	DRC3 (L218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085740	NM_031294.4(DRC3):c.661G>A (p.Ala221Thr)	DRC3 (A221T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363434	NM_031294.4(DRC3):c.672G>C (p.Glu224Asp)	DRC3 (E224D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085741	NM_031294.4(DRC3):c.683C>T (p.Ala228Val)	DRC3 (A228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456839	NM_031294.4(DRC3):c.688C>T (p.Arg230Trp)	DRC3 (R230W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620771	NM_031294.4(DRC3):c.740C>T (p.Ser247Phe)	DRC3 (S247F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085742	NM_031294.4(DRC3):c.907G>A (p.Asp303Asn)	DRC3 (D303N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365963	NM_031294.4(DRC3):c.929G>A (p.Arg310His)	DRC3 (R310H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337380	NM_031294.4(DRC3):c.1097T>A (p.Met366Lys)	DRC3 (M366K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263125	NM_031294.4(DRC3):c.1147T>C (p.Phe383Leu)	DRC3 (F383L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085730	NM_031294.4(DRC3):c.1159A>G (p.Ile387Val)	DRC3 (I387V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085731	NM_031294.4(DRC3):c.1190A>C (p.Asn397Thr)	DRC3 (N397T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493915	NM_031294.4(DRC3):c.1217G>A (p.Arg406Gln)	DRC3 (R406Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085732	NM_031294.4(DRC3):c.1312A>G (p.Asn438Asp)	DRC3 (N438D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380618	NM_031294.4(DRC3):c.1313A>G (p.Asn438Ser)	DRC3 (N438S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647536	NM_031294.4(DRC3):c.1326+15_1326+16insGGAGCATGTCGGGGAAGGGCTGGATGGAGTTGGACTGGGTGGGGAAGGGGCGGAGATGGGGCGGGGCGGGC	DRC3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2647537	NM_031294.4(DRC3):c.1363G>A (p.Gly455Arg)	ATPAF2, DRC3 (G455R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3085733	NM_031294.4(DRC3):c.1387C>G (p.Leu463Val)	ATPAF2, DRC3 (L463V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295109	NM_031294.4(DRC3):c.1424G>T (p.Arg475Ile)	ATPAF2, DRC3 (R475I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300154	NM_031294.4(DRC3):c.1467G>C (p.Lys489Asn)	ATPAF2, DRC3 (K489N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085734	NM_031294.4(DRC3):c.1487G>A (p.Arg496His)	ATPAF2, DRC3 (R496H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346510	NM_031294.4(DRC3):c.1492C>T (p.Arg498Cys)	ATPAF2, DRC3 (R498C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462168	NM_031294.4(DRC3):c.1519G>A (p.Asp507Asn)	ATPAF2, DRC3 (D507N)	Single nucleotide variant (missense variant)	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 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic

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