GRAPL[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 147987	GRCh38/hg38 17p11.2(chr17:19031266-19148137)x1	GRAP, GRAPL +6 more	Copy number loss	See cases	GBenign
Select item 149344	GRCh38/hg38 17p11.2(chr17:19031805-19185457)x1	GRAP, GRAPL +7 more	Copy number loss	See cases	GLikely benign
Select item 60135	GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3	AKAP10, ALDH3A1 +116 more	Copy number gain	See cases	GUncertain significance
Select item 150203	GRCh38/hg38 17p11.2(chr17:19088044-19185457)x3	GRAPL, GRAPL-AS1 +4 more	Copy number gain	See cases	GLikely benign
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
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 2684839	GRCh37/hg19 17p11.2-11.1(chr17:18614422-22227823)x3	AKAP10, ALDH3A1 +29 more	Copy number gain	not provided	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 2498730	GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	AKAP10, ALDH3A1 +44 more	Copy number loss	not provided	GPathogenic
Select item 2425820	NC_000017.10:g.(?_16842861)_(19578885_?)dup	ALDH3A2, ALKBH5 +42 more	Duplication	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1808657	GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3	ALKBH5, ATPAF2 +38 more	Copy number gain	not provided	GPathogenic
Select item 1710929	GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1703566	GRCh37/hg19 17p11.2(chr17:17151140-20187953)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis 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 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	GID4, GRAP +48 more	Copy number loss	not provided	GPathogenic
Select item 1330162	GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047866	GRCh37/hg19 17p11.2(chr17:16601603-20063369)	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047863	GRCh37/hg19 17p11.2(chr17:17145361-20137943)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 980119	GRCh37/hg19 17p11.2(chr17:18746987-20231379)x1	ULK2, SLC47A2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 980117	GRCh37/hg19 17p11.2(chr17:18509439-19143976)x3	GRAPL, PRPSAP2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 980115	GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 980114	GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3	SMCR8, SNORD3A +47 more	Copy number gain	not provided	GPathogenic
Select item 625730	GRCh37/hg19 17p11.2(chr17:16842991-20217316)	AKAP10, ALDH3A1 +47 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 564419	GRCh37/hg19 17p11.2(chr17:18800138-19238772)x3	GRAPL, PRPSAP2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 564418	GRCh37/hg19 17p11.2(chr17:18743223-20246715)x3	AKAP10, B9D1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 564413	GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564412	GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564411	GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	not provided	GPathogenic
Select item 564409	GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 564408	GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1	GID4, GRAP +47 more	Copy number loss	not provided	GPathogenic
Select item 523257	GRCh37/hg19 17p11.2(chr17:16842163-20217777)	COPS3, DRC3 +47 more	Copy number gain	Delayed gross motor development +3 more	GPathogenic
Select item 523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	TRIM16L, MED9 +47 more	Copy number loss	Pes valgus +9 more	GPathogenic
Select item 496743	arr[hg19]17p11.2(16,757,111-20,219,651)x3	MYO15A, NT5M +47 more	Duplication	Potocki-Lupski syndrome	GPathogenic
Select item 443760	GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 443148	GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 442933	GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1	B9D1, AKAP10 +51 more	Copy number loss	See cases	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 442542	GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 442368	GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1	AKAP10, ALDH3A1 +47 more	Copy number loss	See cases	GPathogenic
Select item 442167	GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 441899	GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	See cases	GPathogenic
Select item 441875	GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 441841	GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic

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