STK11IP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 2391959	NM_052902.4(STK11IP):c.10G>A (p.Ala4Thr)	STK11IP (A4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279391	NM_052902.4(STK11IP):c.19G>A (p.Asp7Asn)	STK11IP (D7N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467712	NM_052902.4(STK11IP):c.25C>G (p.Leu9Val)	STK11IP (L9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241991	NM_052902.4(STK11IP):c.40G>C (p.Ala14Pro)	STK11IP (A14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171271	NM_052902.4(STK11IP):c.41C>G (p.Ala14Gly)	STK11IP (A14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244074	NM_052902.4(STK11IP):c.57G>C (p.Glu19Asp)	STK11IP (E19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384020	NM_052902.4(STK11IP):c.214A>G (p.Ile72Val)	STK11IP (I72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245505	NM_052902.4(STK11IP):c.257T>C (p.Leu86Pro)	STK11IP (L86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593530	NM_052902.4(STK11IP):c.274C>T (p.His92Tyr)	STK11IP (H92Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323271	NM_052902.4(STK11IP):c.283G>T (p.Gly95Cys)	STK11IP (G95C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354055	NM_052902.4(STK11IP):c.304A>G (p.Ile102Val)	STK11IP (I102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542732	NM_052902.4(STK11IP):c.325T>A (p.Ser109Thr)	STK11IP (S109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171266	NM_052902.4(STK11IP):c.331C>T (p.Arg111Trp)	STK11IP (R111W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171267	NM_052902.4(STK11IP):c.442C>T (p.Leu148Phe)	STK11IP (L148F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388209	NM_052902.4(STK11IP):c.460G>A (p.Gly154Ser)	STK11IP (G154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293980	NM_052902.4(STK11IP):c.506A>G (p.Asn169Ser)	STK11IP (N169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314377	NM_052902.4(STK11IP):c.518A>G (p.Asn173Ser)	STK11IP (N173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341447	NM_052902.4(STK11IP):c.565C>T (p.Arg189Cys)	STK11IP (R189C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171268	NM_052902.4(STK11IP):c.566G>A (p.Arg189His)	STK11IP (R189H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486747	NM_052902.4(STK11IP):c.601T>C (p.Cys201Arg)	STK11IP (C201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171270	NM_052902.4(STK11IP):c.640C>A (p.Leu214Met)	LOC126806519, STK11IP (L214M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214175	NM_052902.4(STK11IP):c.658C>T (p.Arg220Cys)	LOC126806519, STK11IP (R220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381655	NM_052902.4(STK11IP):c.659G>A (p.Arg220His)	LOC126806519, STK11IP (R220H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518967	NM_052902.4(STK11IP):c.668T>C (p.Leu223Ser)	LOC126806519, STK11IP (L223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462900	NM_052902.4(STK11IP):c.694G>T (p.Ala232Ser)	LOC126806519, STK11IP (A232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607974	NM_052902.4(STK11IP):c.719G>A (p.Arg240Gln)	LOC126806519, STK11IP (R240Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306100	NM_052902.4(STK11IP):c.751G>A (p.Glu251Lys)	LOC126806519, STK11IP (E251K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171272	NM_052902.4(STK11IP):c.770G>A (p.Arg257Gln)	LOC126806519, STK11IP (R257Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323279	NM_052902.4(STK11IP):c.808C>T (p.Arg270Trp)	LOC126806519, STK11IP (R270W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323272	NM_052902.4(STK11IP):c.845G>A (p.Arg282His)	LOC126806519, STK11IP (R282H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475804	NM_052902.4(STK11IP):c.845G>T (p.Arg282Leu)	LOC126806519, STK11IP (R282L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519017	NM_052902.4(STK11IP):c.868C>G (p.Pro290Ala)	LOC126806519, STK11IP (P290A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171273	NM_052902.4(STK11IP):c.943G>T (p.Gly315Cys)	STK11IP (G315C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260832	NM_052902.4(STK11IP):c.964G>T (p.Val322Phe)	STK11IP (V322F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171246	NM_052902.4(STK11IP):c.1052C>T (p.Pro351Leu)	STK11IP (P351L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491510	NM_052902.4(STK11IP):c.1070C>T (p.Pro357Leu)	STK11IP (P357L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171247	NM_052902.4(STK11IP):c.1075C>G (p.Leu359Val)	STK11IP (L359V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291969	NM_052902.4(STK11IP):c.1078A>C (p.Ser360Arg)	STK11IP (S360R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511227	NM_052902.4(STK11IP):c.1145G>A (p.Arg382His)	STK11IP (R382H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287079	NM_052902.4(STK11IP):c.1168G>A (p.Glu390Lys)	STK11IP (E390K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342409	NM_052902.4(STK11IP):c.1241C>T (p.Pro414Leu)	STK11IP (P414L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522046	NM_052902.4(STK11IP):c.1267C>T (p.Arg423Trp)	STK11IP (R423W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171248	NM_052902.4(STK11IP):c.1274G>A (p.Arg425Gln)	STK11IP (R425Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339150	NM_052902.4(STK11IP):c.1315C>T (p.Pro439Ser)	STK11IP (P439S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225492	NM_052902.4(STK11IP):c.1321G>A (p.Gly441Arg)	STK11IP (G441R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323278	NM_052902.4(STK11IP):c.1378T>C (p.Ser460Pro)	STK11IP (S460P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378350	NM_052902.4(STK11IP):c.1378T>G (p.Ser460Ala)	STK11IP (S460A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171250	NM_052902.4(STK11IP):c.1384G>A (p.Gly462Ser)	STK11IP (G462S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171251	NM_052902.4(STK11IP):c.1480C>T (p.Pro494Ser)	STK11IP (P494S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323273	NM_052902.4(STK11IP):c.1519A>G (p.Lys507Glu)	STK11IP (K507E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171252	NM_052902.4(STK11IP):c.1554G>C (p.Glu518Asp)	STK11IP (E518D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379774	NM_052902.4(STK11IP):c.1591A>G (p.Lys531Glu)	STK11IP (K531E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323276	NM_052902.4(STK11IP):c.1633C>T (p.Pro545Ser)	STK11IP (P545S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343095	NM_052902.4(STK11IP):c.1640A>G (p.Glu547Gly)	STK11IP (E547G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308316	NM_052902.4(STK11IP):c.1672T>C (p.Phe558Leu)	STK11IP (F558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308317	NM_052902.4(STK11IP):c.1673T>G (p.Phe558Cys)	STK11IP (F558C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230057	NM_052902.4(STK11IP):c.1690G>C (p.Ala564Pro)	STK11IP (A564P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230058	NM_052902.4(STK11IP):c.1691C>T (p.Ala564Val)	STK11IP (A564V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323274	NM_052902.4(STK11IP):c.1718C>T (p.Ala573Val)	STK11IP (A573V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171254	NM_052902.4(STK11IP):c.1724G>A (p.Arg575His)	STK11IP (R575H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171255	NM_052902.4(STK11IP):c.1768A>C (p.Ile590Leu)	STK11IP (I590L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377202	NM_052902.4(STK11IP):c.1808C>T (p.Thr603Met)	STK11IP (T603M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386397	NM_052902.4(STK11IP):c.1831G>A (p.Ala611Thr)	STK11IP (A611T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523844	NM_052902.4(STK11IP):c.1849C>T (p.Arg617Cys)	STK11IP (R617C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237459	NM_052902.4(STK11IP):c.1882C>T (p.Arg628Cys)	STK11IP (R628C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256601	NM_052902.4(STK11IP):c.1885C>T (p.Arg629Cys)	STK11IP (R629C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304504	NM_052902.4(STK11IP):c.1912C>G (p.His638Asp)	STK11IP (H638D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509456	NM_052902.4(STK11IP):c.1939G>A (p.Val647Met)	STK11IP (V647M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555203	NM_052902.4(STK11IP):c.1946C>T (p.Thr649Ile)	STK11IP (T649I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398180	NM_052902.4(STK11IP):c.1958A>G (p.Asn653Ser)	STK11IP (N653S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171258	NM_052902.4(STK11IP):c.2020C>T (p.Arg674Cys)	STK11IP (R674C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171259	NM_052902.4(STK11IP):c.2129G>A (p.Cys710Tyr)	STK11IP (C710Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507997	NM_052902.4(STK11IP):c.2155G>A (p.Ala719Thr)	STK11IP (A719T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3323280	NM_052902.4(STK11IP):c.2158G>T (p.Val720Leu)	STK11IP (V720L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2612674	NM_052902.4(STK11IP):c.2246C>T (p.Pro749Leu)	STK11IP (P749L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206353	NM_052902.4(STK11IP):c.2297C>T (p.Pro766Leu)	STK11IP (P766L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215867	NM_052902.4(STK11IP):c.2312A>G (p.His771Arg)	STK11IP (H771R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2595173	NM_052902.4(STK11IP):c.2329A>G (p.Ser777Gly)	STK11IP (S777G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368801	NM_052902.4(STK11IP):c.2344C>T (p.Arg782Cys)	STK11IP (R782C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171260	NM_052902.4(STK11IP):c.2357G>A (p.Arg786His)	STK11IP (R786H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401099	NM_052902.4(STK11IP):c.2377C>T (p.Arg793Trp)	STK11IP (R793W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308289	NM_052902.4(STK11IP):c.2479T>G (p.Cys827Gly)	STK11IP (C827G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323275	NM_052902.4(STK11IP):c.2542C>A (p.Pro848Thr)	STK11IP (P848T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368179	NM_052902.4(STK11IP):c.2600T>C (p.Ile867Thr)	STK11IP (I867T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535180	NM_052902.4(STK11IP):c.2615C>T (p.Ala872Val)	STK11IP (A872V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213040	NM_052902.4(STK11IP):c.2774A>T (p.Glu925Val)	STK11IP (E925V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171262	NM_052902.4(STK11IP):c.2851C>T (p.Arg951Trp)	STK11IP (R951W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533173	NM_052902.4(STK11IP):c.2928T>G (p.Asp976Glu)	STK11IP (D976E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326983	NM_052902.4(STK11IP):c.2995G>A (p.Val999Met)	STK11IP (V999M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396672	NM_052902.4(STK11IP):c.3005C>T (p.Ser1002Leu)	STK11IP (S1002L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171263	NM_052902.4(STK11IP):c.3025C>T (p.Arg1009Cys)	STK11IP (R1009C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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