201163[geneid] - 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	ADORA2B, ALKBH5 +216 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	LOC130060373, LOC130060374 +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	ADORA2B, AKAP10 +314 more	Copy number loss	See cases	GPathogenic
Select item 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	ADORA2B, ALKBH5 +217 more	Copy number loss	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	LOC130060409, LOC130060410 +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	AKAP10, ALDH3A1 +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	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 151506	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	AKAP10, ALDH3A1 +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	LOC130060441, LOC130060442 +248 more	Copy number loss	See cases	GPathogenic
Select item 58115	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	SNORD3B-2, SNORD3C +253 more	Copy number gain	See cases	GPathogenic
Select item 58126	GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	AKAP10, ALDH3A1 +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	LOC132090457, LOC132090458 +248 more	Copy number loss	See cases	GPathogenic
Select item 146754	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 154919	GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1	ALKBH5, ATPAF2 +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	LOC130060388, LOC130060389 +247 more	Copy number loss	See cases	GPathogenic
Select item 58128	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	FLII, FOXO3B +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	LOC130060437, LOC130060438 +243 more	Copy number gain	See cases	GPathogenic
Select item 153671	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	LOC130060452, LOC130060453 +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	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 60457	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	LOC130060350, LOC130060351 +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	LOC130060452, LOC130060453 +246 more	Copy number gain	See cases	GPathogenic
Select item 144213	GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	AKAP10, ALDH3A1 +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	LOC130060362, LOC130060363 +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	ALKBH5, ATPAF2 +143 more	Copy number loss	See cases	GPathogenic
Select item 152769	GRCh38/hg38 17p11.2(chr17:17150076-17286561)x3	COPS3, FLCN +15 more	Copy number gain	See cases	GUncertain significance
Select item 60458	GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1	ALKBH5, ATPAF2 +117 more	Copy number loss	See cases	GPathogenic
Select item 322033	NM_144997.7(FLCN):c.*1403T>C	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GBenign
Select item 322034	NM_144997.7(FLCN):c.*1336G>T	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GBenign
Select item 322035	NM_144997.7(FLCN):c.*1273C>T	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GUncertain significance
Select item 322036	NM_144997.7(FLCN):c.*1182dup	FLCN	Duplication (3 prime UTR variant)	Birt-Hogg-Dube syndrome +1 more	GBenign
Select item 322037	NM_144997.7(FLCN):c.*1179dup	FLCN	Duplication (3 prime UTR variant)	Spontaneous pneumothorax +1 more	GUncertain significance
Select item 322038	NM_144997.7(FLCN):c.*1179T>A	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GUncertain significance
Select item 889505	NM_144997.7(FLCN):c.*1101C>G	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GUncertain significance
Select item 889506	NM_144997.7(FLCN):c.*1035T>C	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GUncertain significance
Select item 322039	NM_144997.7(FLCN):c.*967T>C	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GUncertain significance
Select item 322040	NM_144997.7(FLCN):c.*956A>G	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GBenign
Select item 890168	NM_144997.7(FLCN):c.*915G>T	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GUncertain significance
Select item 322041	NM_144997.7(FLCN):c.*914C>T	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GBenign
Select item 322042	NM_144997.7(FLCN):c.*911G>A	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GBenign/Likely benign
Select item 322043	NM_144997.7(FLCN):c.*887T>C	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GUncertain significance
Select item 890749	NM_144997.7(FLCN):c.*846C>T	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GUncertain significance
Select item 322044	NM_144997.7(FLCN):c.*739C>T	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GUncertain significance
Select item 322045	NM_144997.7(FLCN):c.695_696del	FLCN	Deletion (3 prime UTR variant)	Spontaneous pneumothorax +1 more	GUncertain significance
Select item 322046	NM_144997.7(FLCN):c.*695C>T	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +2 more	GConflicting classifications of pathogenicity
Select item 322047	NM_144997.7(FLCN):c.*634A>C	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GUncertain significance
Select item 322048	NM_144997.7(FLCN):c.*557T>C	FLCN	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 322049	NM_144997.7(FLCN):c.*528G>A	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GConflicting classifications of pathogenicity
Select item 322050	NM_144997.7(FLCN):c.*526T>C	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GBenign/Likely benign
Select item 322051	NM_144997.7(FLCN):c.*442T>C	FLCN	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 322052	NM_144997.7(FLCN):c.*425G>A	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +2 more	GBenign
Select item 322053	NM_144997.7(FLCN):c.*393G>A	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +2 more	GBenign/Likely benign
Select item 322054	NM_144997.7(FLCN):c.*379G>A	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GConflicting classifications of pathogenicity
Select item 322055	NM_144997.7(FLCN):c.*356G>T	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +2 more	GBenign
Select item 322056	NM_144997.7(FLCN):c.*340G>A	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GUncertain significance
Select item 890789	NM_144997.7(FLCN):c.*339C>T	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GUncertain significance
Select item 322057	NM_144997.7(FLCN):c.*333C>T	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GUncertain significance
Select item 322058	NM_144997.7(FLCN):c.*290C>T	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GUncertain significance
Select item 322059	NM_144997.7(FLCN):c.*224G>A	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GUncertain significance
Select item 1209300	NM_144997.7(FLCN):c.*223C>T	FLCN	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 892027	NM_144997.7(FLCN):c.*178A>C	FLCN	Single nucleotide variant (3 prime UTR variant)	Birt-Hogg-Dube syndrome +1 more	GUncertain significance
Select item 322060	NM_144997.7(FLCN):c.*178A>G	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +1 more	GConflicting classifications of pathogenicity
Select item 892028	NM_144997.7(FLCN):c.*140C>T	FLCN	Single nucleotide variant (3 prime UTR variant)	Birt-Hogg-Dube syndrome +1 more	GUncertain significance
Select item 892029	NM_144997.7(FLCN):c.*29G>A	FLCN	Single nucleotide variant (3 prime UTR variant)	Birt-Hogg-Dube syndrome +1 more	GUncertain significance
Select item 387053	NM_144997.7(FLCN):c.*17G>T	FLCN	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign/Likely benign

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