SPECC1[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	FAM106A, FAM106B +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 60135	GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3	AKAP10, ALDH3A1 +116 more	Copy number gain	See cases	GUncertain significance
Select item 154666	GRCh38/hg38 17p11.2(chr17:19744033-21598663)x3	AKAP10, ALDH3A1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 3168806	NM_001243439.2(SPECC1):c.47G>T (p.Gly16Val)	SPECC1 (G24V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304678	NM_001243439.2(SPECC1):c.62G>A (p.Arg21Gln)	SPECC1 (R29Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223939	NM_001243439.2(SPECC1):c.82G>C (p.Ala28Pro)	SPECC1 (A28P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254877	NM_001243439.2(SPECC1):c.134C>T (p.Ser45Phe)	SPECC1 (S45F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168799	NM_001243439.2(SPECC1):c.277G>A (p.Gly93Ser)	SPECC1 (G101S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263248	NM_001243439.2(SPECC1):c.281C>G (p.Thr94Arg)	SPECC1 (T102R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 151501	GRCh38/hg38 17p11.2(chr17:20185062-20316092)x3	LOC125177439, SPECC1	Copy number gain	See cases	GLikely benign
Select item 2371158	NM_001243439.2(SPECC1):c.295A>T (p.Thr99Ser)	SPECC1 (T18S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2281159	NM_001243439.2(SPECC1):c.305G>A (p.Arg102Gln)	SPECC1 (R110Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524293	NM_001243439.2(SPECC1):c.368G>A (p.Arg123His)	SPECC1 (R42H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3168804	NM_001243439.2(SPECC1):c.400A>C (p.Ser134Arg)	SPECC1 (S53R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362368	NM_001243439.2(SPECC1):c.421C>T (p.Pro141Ser)	SPECC1 (P149S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3168805	NM_001243439.2(SPECC1):c.467A>G (p.Gln156Arg)	SPECC1 (Q164R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3168807	NM_001243439.2(SPECC1):c.501G>C (p.Glu167Asp)	SPECC1 (E86D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3168808	NM_001243439.2(SPECC1):c.676A>G (p.Ile226Val)	SPECC1 (I2V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379994	NM_001243439.2(SPECC1):c.710A>T (p.Gln237Leu)	SPECC1 (Q237L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3168809	NM_001243439.2(SPECC1):c.724G>C (p.Asp242His)	SPECC1 (D161H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168810	NM_001243439.2(SPECC1):c.743G>A (p.Arg248Gln)	SPECC1 (R167Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3168811	NM_001243439.2(SPECC1):c.766T>G (p.Tyr256Asp)	SPECC1 (Y264D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559724	NM_001243439.2(SPECC1):c.814G>A (p.Asp272Asn)	SPECC1 (D280N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310148	NM_001243439.2(SPECC1):c.861C>G (p.Ser287Arg)	SPECC1 (S206R +3 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3168812	NM_001243439.2(SPECC1):c.865A>G (p.Thr289Ala)	SPECC1 (T208A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3168813	NM_001243439.2(SPECC1):c.881C>G (p.Ser294Cys)	SPECC1 (S213C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267974	NM_001243439.2(SPECC1):c.911T>C (p.Ile304Thr)	SPECC1 (I80T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2306386	NM_001243439.2(SPECC1):c.950G>A (p.Ser317Asn)	SPECC1 (S236N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476210	NM_001243439.2(SPECC1):c.952G>A (p.Asp318Asn)	SPECC1 (D326N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245775	NM_001243439.2(SPECC1):c.1000A>G (p.Ile334Val)	SPECC1 (I110V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285193	NM_001243439.2(SPECC1):c.1012A>G (p.Thr338Ala)	SPECC1 (T114A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208350	NM_001243439.2(SPECC1):c.1088A>G (p.Asn363Ser)	SPECC1 (N282S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390501	NM_001243439.2(SPECC1):c.1093G>A (p.Val365Ile)	SPECC1 (V284I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364691	NM_001243439.2(SPECC1):c.1093G>C (p.Val365Leu)	SPECC1 (V141L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251605	NM_001243439.2(SPECC1):c.1114T>A (p.Ser372Thr)	SPECC1 (S148T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465636	NM_001243439.2(SPECC1):c.1264T>A (p.Leu422Ile)	SPECC1 (L422I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168792	NM_001243439.2(SPECC1):c.1349G>A (p.Arg450Gln)	SPECC1 (R226Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602521	NM_001243439.2(SPECC1):c.1387A>T (p.Ile463Phe)	SPECC1 (I382F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601105	NM_001243439.2(SPECC1):c.1405A>C (p.Lys469Gln)	SPECC1 (K245Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301209	NM_001243439.2(SPECC1):c.1486C>T (p.Arg496Trp)	SPECC1 (R496W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168794	NM_001243439.2(SPECC1):c.1532G>A (p.Arg511His)	SPECC1 (R430H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2385041	NM_001243439.2(SPECC1):c.1537A>G (p.Lys513Glu)	SPECC1 (K432E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291404	NM_001243439.2(SPECC1):c.1596G>A (p.Met532Ile)	SPECC1 (M308I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617707	NM_001243439.2(SPECC1):c.1630T>G (p.Leu544Val)	SPECC1 (L463V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168795	NM_001243439.2(SPECC1):c.1654G>C (p.Gly552Arg)	SPECC1 (G471R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329222	NM_001243439.2(SPECC1):c.1720A>G (p.Thr574Ala)	SPECC1 (T493A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551331	NM_001243439.2(SPECC1):c.1728G>C (p.Glu576Asp)	SPECC1 (E576D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356522	NM_001243439.2(SPECC1):c.1735G>A (p.Glu579Lys)	SPECC1 (E579K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1801728	NM_001243439.2(SPECC1):c.1747A>G (p.Met583Val)	SPECC1 (M359V +3 more)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GLikely pathogenic

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