LLGL1[gene] - 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	DRC3, LOC130060351 +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 154395	GRCh38/hg38 17p11.2(chr17:18077127-18521388)x3	ALKBH5, DRG2 +30 more	Copy number gain	See cases	GPathogenic
Select item 1317994	NM_004140.4(LLGL1):c.45C>T (p.Arg15=)	LLGL1, LOC130060423	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2511693	NM_004140.4(LLGL1):c.80A>G (p.Lys27Arg)	LLGL1, LOC130060423 (K27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777136	NM_004140.4(LLGL1):c.104A>G (p.Asn35Ser)	LLGL1 (N35S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2589760	NM_004140.4(LLGL1):c.115G>A (p.Ala39Thr)	LLGL1 (A39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119138	NM_004140.4(LLGL1):c.131C>T (p.Pro44Leu)	LLGL1 (P44L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268908	NM_004140.4(LLGL1):c.256G>A (p.Gly86Ser)	LLGL1 (G86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314408	NM_004140.4(LLGL1):c.313G>T (p.Val105Phe)	LLGL1 (V105F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720882	NM_004140.4(LLGL1):c.375C>T (p.Pro125=)	LLGL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2473555	NM_004140.4(LLGL1):c.398C>T (p.Pro133Leu)	LLGL1 (P133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724649	NM_004140.4(LLGL1):c.423G>A (p.Val141=)	LLGL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770678	NM_004140.4(LLGL1):c.442= (p.Ser148=)	LLGL1	Variation (no sequence alteration)	not provided	GBenign
Select item 2540480	NM_004140.4(LLGL1):c.505A>G (p.Thr169Ala)	LLGL1 (T169A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302087	NM_004140.4(LLGL1):c.535G>T (p.Gly179Cys)	LLGL1 (G179C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282413	NM_004140.4(LLGL1):c.541G>C (p.Val181Leu)	LLGL1 (V181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216836	NM_004140.4(LLGL1):c.548G>A (p.Arg183His)	LLGL1 (R183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720883	NM_004140.4(LLGL1):c.553G>A (p.Val185Met)	LLGL1 (V185M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2347389	NM_004140.4(LLGL1):c.562G>A (p.Asp188Asn)	LLGL1 (D188N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614247	NM_004140.4(LLGL1):c.686G>A (p.Cys229Tyr)	LLGL1 (C229Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119155	NM_004140.4(LLGL1):c.695A>G (p.His232Arg)	LLGL1 (H232R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3119156	NM_004140.4(LLGL1):c.752C>G (p.Thr251Ser)	LLGL1 (T251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312989	NM_004140.4(LLGL1):c.818C>G (p.Thr273Arg)	LLGL1 (T273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269608	NM_004140.4(LLGL1):c.889C>T (p.Arg297Trp)	LLGL1 (R297W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768840	NM_004140.4(LLGL1):c.906-8G>A	LLGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3119157	NM_004140.4(LLGL1):c.950A>G (p.Tyr317Cys)	LLGL1 (Y317C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477298	NM_004140.4(LLGL1):c.959G>A (p.Arg320His)	LLGL1 (R320H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119137	NM_004140.4(LLGL1):c.1183A>G (p.Ile395Val)	LLGL1 (I395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744838	NM_004140.4(LLGL1):c.1215C>T (p.Pro405=)	LLGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2354209	NM_004140.4(LLGL1):c.1254G>C (p.Gln418His)	LLGL1 (Q418H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281982	NM_004140.4(LLGL1):c.1369G>A (p.Val457Met)	LLGL1 (V457M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392701	NM_004140.4(LLGL1):c.1412A>G (p.Tyr471Cys)	LLGL1 (Y471C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119139	NM_004140.4(LLGL1):c.1456G>A (p.Ala486Thr)	LLGL1 (A486T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522376	NM_004140.4(LLGL1):c.1547G>C (p.Gly516Ala)	LLGL1 (G516A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567800	NM_004140.4(LLGL1):c.1562C>T (p.Ala521Val)	LLGL1 (A521V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305843	NM_004140.4(LLGL1):c.1579G>A (p.Ala527Thr)	LLGL1 (A527T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212708	NM_004140.4(LLGL1):c.1664C>T (p.Ala555Val)	LLGL1 (A555V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384127	NM_004140.4(LLGL1):c.1687C>T (p.Arg563Cys)	LLGL1 (R563C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119141	NM_004140.4(LLGL1):c.1688G>A (p.Arg563His)	LLGL1 (R563H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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