ClinVar for Gene (Select 3996) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 206

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290857	NM_004140.4(LLGL1):c.2681G>C (p.Gly894Ala)	LLGL1 (G894A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290856	NM_004140.4(LLGL1):c.1486G>A (p.Asp496Asn)	LLGL1 (D496N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290855	NM_004140.4(LLGL1):c.182A>G (p.Tyr61Cys)	LLGL1 (Y61C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290854	NM_004140.4(LLGL1):c.2755C>T (p.Arg919Cys)	LLGL1 (R919C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290853	NM_004140.4(LLGL1):c.3040G>C (p.Asp1014His)	LLGL1 (D1014H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290852	NM_004140.4(LLGL1):c.617G>A (p.Arg206Gln)	LLGL1 (R206Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290850	NM_004140.4(LLGL1):c.218G>A (p.Arg73Gln)	LLGL1 (R73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290849	NM_004140.4(LLGL1):c.1885A>G (p.Lys629Glu)	LLGL1 (K629E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290848	NM_004140.4(LLGL1):c.1048C>T (p.Arg350Trp)	LLGL1 (R350W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290847	NM_004140.4(LLGL1):c.1071C>A (p.Asp357Glu)	LLGL1 (D357E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3119156	NM_004140.4(LLGL1):c.752C>G (p.Thr251Ser)	LLGL1 (T251S)	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 3119154	NM_004140.4(LLGL1):c.3082G>A (p.Asp1028Asn)	LLGL1 (D1028N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119153	NM_004140.4(LLGL1):c.3040G>A (p.Asp1014Asn)	LLGL1 (D1014N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119152	NM_004140.4(LLGL1):c.2932A>G (p.Ser978Gly)	LLGL1 (S978G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3119151	NM_004140.4(LLGL1):c.2699A>G (p.His900Arg)	LLGL1 (H900R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119149	NM_004140.4(LLGL1):c.2558A>C (p.Glu853Ala)	LLGL1 (E853A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119148	NM_004140.4(LLGL1):c.2441C>T (p.Ala814Val)	LLGL1 (A814V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119147	NM_004140.4(LLGL1):c.2180A>G (p.Tyr727Cys)	LLGL1 (Y727C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119146	NM_004140.4(LLGL1):c.2159C>T (p.Ser720Leu)	LLGL1 (S720L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119145	NM_004140.4(LLGL1):c.2107A>G (p.Met703Val)	LLGL1 (M703V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3119144	NM_004140.4(LLGL1):c.2003G>A (p.Arg668His)	LLGL1 (R668H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119143	NM_004140.4(LLGL1):c.1997G>A (p.Arg666His)	LLGL1 (R666H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119142	NM_004140.4(LLGL1):c.1883G>A (p.Arg628His)	LLGL1 (R628H)	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
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 3119138	NM_004140.4(LLGL1):c.131C>T (p.Pro44Leu)	LLGL1 (P44L)	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 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 2671583	Single allele	LGALS9C, MIR33B +30 more	Duplication	not provided	GPathogenic
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 2597532	NM_004140.4(LLGL1):c.1729C>T (p.Arg577Cys)	LLGL1 (R577C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2588625	NM_004140.4(LLGL1):c.2101G>A (p.Val701Met)	LLGL1 (V701M)	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 2559803	NM_004140.4(LLGL1):c.2383G>T (p.Val795Leu)	LLGL1 (V795L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551794	NM_004140.4(LLGL1):c.1898T>C (p.Leu633Pro)	LLGL1 (L633P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547154	NM_004140.4(LLGL1):c.1807G>A (p.Ala603Thr)	LLGL1 (A603T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2522376	NM_004140.4(LLGL1):c.1547G>C (p.Gly516Ala)	LLGL1 (G516A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518349	NM_004140.4(LLGL1):c.2012G>A (p.Arg671His)	LLGL1 (R671H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2488740	NM_004140.4(LLGL1):c.1855C>G (p.His619Asp)	LLGL1 (H619D)	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 2473555	NM_004140.4(LLGL1):c.398C>T (p.Pro133Leu)	LLGL1 (P133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459631	NM_004140.4(LLGL1):c.2581G>A (p.Ala861Thr)	LLGL1 (A861T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455923	NM_004140.4(LLGL1):c.2591C>A (p.Thr864Lys)	LLGL1 (T864K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2408155	NM_004140.4(LLGL1):c.2864G>A (p.Arg955His)	LLGL1 (R955H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404815	NM_004140.4(LLGL1):c.2746G>A (p.Val916Ile)	LLGL1 (V916I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402082	NM_004140.4(LLGL1):c.3085G>A (p.Val1029Ile)	LLGL1 (V1029I)	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 2388388	NM_004140.4(LLGL1):c.2329G>C (p.Val777Leu)	LLGL1 (V777L)	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 2354209	NM_004140.4(LLGL1):c.1254G>C (p.Gln418His)	LLGL1 (Q418H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2341364	NM_004140.4(LLGL1):c.2923G>A (p.Gly975Arg)	LLGL1 (G975R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339553	NM_004140.4(LLGL1):c.2318C>T (p.Ala773Val)	LLGL1 (A773V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322051	NM_004140.4(LLGL1):c.1946C>T (p.Pro649Leu)	LLGL1 (P649L)	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 2312989	NM_004140.4(LLGL1):c.818C>G (p.Thr273Arg)	LLGL1 (T273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307495	NM_004140.4(LLGL1):c.2955C>A (p.Ser985Arg)	LLGL1 (S985R)	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 2302087	NM_004140.4(LLGL1):c.535G>T (p.Gly179Cys)	LLGL1 (G179C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284416	NM_004140.4(LLGL1):c.2097C>G (p.His699Gln)	LLGL1 (H699Q)	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 2281982	NM_004140.4(LLGL1):c.1369G>A (p.Val457Met)	LLGL1 (V457M)	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 2268908	NM_004140.4(LLGL1):c.256G>A (p.Gly86Ser)	LLGL1 (G86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256993	NM_004140.4(LLGL1):c.2483C>T (p.Ala828Val)	LLGL1 (A828V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245395	NM_004140.4(LLGL1):c.2900C>T (p.Ser967Leu)	LLGL1 (S967L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239460	NM_004140.4(LLGL1):c.2714G>A (p.Arg905Gln)	LLGL1 (R905Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221000	NM_004140.4(LLGL1):c.2945C>T (p.Ala982Val)	LLGL1 (A982V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217555	NM_004140.4(LLGL1):c.2572C>T (p.Arg858Cys)	LLGL1 (R858C)	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 2212708	NM_004140.4(LLGL1):c.1664C>T (p.Ala555Val)	LLGL1 (A555V)	Single nucleotide variant (missense variant)	not specified	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 1703554	GRCh37/hg19 17p11.2(chr17:17579860-18469185)	ALKBH5, ATPAF2 +16 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	MIR33B, MPRIP +48 more	Copy number loss	not provided	GPathogenic
Select item 1458439	NC_000017.10:g.(?_16842861)_(18218092_?)dup	PEMT, PLD6 +21 more	Duplication	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 1330162	GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	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 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 980120	GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1	ADORA2B, ALKBH5 +37 more	Copy number loss	not provided	GPathogenic
Select item 980116	GRCh37/hg19 17p11.2(chr17:18125256-18304190)x3	EVPLL, FLII +5 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 815908	GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1	ADORA2B, ALKBH5 +42 more	Copy number loss	not provided	GPathogenic
Select item 790178	NM_004140.4(LLGL1):c.1806C>T (p.Thr602=)	LLGL1	Single nucleotide variant (synonymous variant)	not provided	GBenign

<< First< Prev

Page of 3