LRRIQ1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic
Select item 2253644	NM_001079910.2(LRRIQ1):c.14A>T (p.Asp5Val)	LRRIQ1 (D5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611170	NM_001079910.2(LRRIQ1):c.35T>C (p.Ile12Thr)	LRRIQ1 (I12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406359	NM_001079910.2(LRRIQ1):c.41C>T (p.Ala14Val)	LRRIQ1 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291822	NM_001079910.2(LRRIQ1):c.322G>A (p.Glu108Lys)	LRRIQ1 (E108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265182	NM_001079910.2(LRRIQ1):c.329T>C (p.Leu110Ser)	LRRIQ1 (L110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121073	NM_001079910.2(LRRIQ1):c.349A>G (p.Ile117Val)	LRRIQ1 (I117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121078	NM_001079910.2(LRRIQ1):c.382G>T (p.Asp128Tyr)	LRRIQ1 (D128Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613826	NM_001079910.2(LRRIQ1):c.382G>A (p.Asp128Asn)	LRRIQ1 (D128N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622213	NM_001079910.2(LRRIQ1):c.403G>A (p.Val135Ile)	LRRIQ1 (V135I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308753	NM_001079910.2(LRRIQ1):c.404T>C (p.Val135Ala)	LRRIQ1 (V135A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204921	NM_001079910.2(LRRIQ1):c.507G>C (p.Gln169His)	LRRIQ1 (Q169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121086	NM_001079910.2(LRRIQ1):c.565C>G (p.Leu189Val)	LRRIQ1 (L189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470448	NM_001079910.2(LRRIQ1):c.581A>C (p.Asp194Ala)	LRRIQ1 (D194A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291819	NM_001079910.2(LRRIQ1):c.620G>A (p.Arg207Gln)	LRRIQ1 (R207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461153	NM_001079910.2(LRRIQ1):c.647T>C (p.Val216Ala)	LRRIQ1 (V216A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121087	NM_001079910.2(LRRIQ1):c.730A>G (p.Lys244Glu)	LRRIQ1 (K244E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462083	NM_001079910.2(LRRIQ1):c.742A>C (p.Lys248Gln)	LRRIQ1 (K248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292380	NM_001079910.2(LRRIQ1):c.784G>A (p.Glu262Lys)	LRRIQ1 (E262K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293703	NM_001079910.2(LRRIQ1):c.787G>A (p.Glu263Lys)	LRRIQ1 (E263K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300909	NM_001079910.2(LRRIQ1):c.833C>A (p.Ser278Tyr)	LRRIQ1 (S278Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374194	NM_001079910.2(LRRIQ1):c.886G>A (p.Ala296Thr)	LRRIQ1 (A296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519261	NM_001079910.2(LRRIQ1):c.928C>G (p.Gln310Glu)	LRRIQ1 (Q310E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121088	NM_001079910.2(LRRIQ1):c.958G>A (p.Glu320Lys)	LRRIQ1 (E320K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248240	NM_001079910.2(LRRIQ1):c.965A>T (p.Lys322Met)	LRRIQ1 (K322M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121089	NM_001079910.2(LRRIQ1):c.986G>A (p.Arg329Gln)	LRRIQ1 (R329Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121061	NM_001079910.2(LRRIQ1):c.1007G>T (p.Arg336Leu)	LRRIQ1 (R336L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590083	NM_001079910.2(LRRIQ1):c.1103A>G (p.Lys368Arg)	LRRIQ1 (K368R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382346	NM_001079910.2(LRRIQ1):c.1118A>C (p.Gln373Pro)	LRRIQ1 (Q373P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218969	NM_001079910.2(LRRIQ1):c.1140C>A (p.Ser380Arg)	LRRIQ1 (S380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527349	NM_001079910.2(LRRIQ1):c.1152A>G (p.Ile384Met)	LRRIQ1 (I384M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121062	NM_001079910.2(LRRIQ1):c.1241A>G (p.Asp414Gly)	LRRIQ1 (D414G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550117	NM_001079910.2(LRRIQ1):c.1256A>C (p.Lys419Thr)	LRRIQ1 (K419T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611636	NM_001079910.2(LRRIQ1):c.1372A>G (p.Lys458Glu)	LRRIQ1 (K458E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621688	NM_001079910.2(LRRIQ1):c.1397A>G (p.Lys466Arg)	LRRIQ1 (K466R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568505	NM_001079910.2(LRRIQ1):c.1409C>T (p.Ser470Leu)	LRRIQ1 (S470L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291820	NM_001079910.2(LRRIQ1):c.1541A>C (p.Asn514Thr)	LRRIQ1 (N514T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548444	NM_001079910.2(LRRIQ1):c.1592A>C (p.Lys531Thr)	LRRIQ1 (K531T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455340	NM_001079910.2(LRRIQ1):c.1691G>A (p.Ser564Asn)	LRRIQ1 (S564N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362000	NM_001079910.2(LRRIQ1):c.1720A>G (p.Ile574Val)	LRRIQ1 (I574V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121064	NM_001079910.2(LRRIQ1):c.1732A>C (p.Asn578His)	LRRIQ1 (N578H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349754	NM_001079910.2(LRRIQ1):c.1794A>T (p.Leu598Phe)	LRRIQ1 (L598F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394392	NM_001079910.2(LRRIQ1):c.1836A>T (p.Arg612Ser)	LRRIQ1 (R612S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308401	NM_001079910.2(LRRIQ1):c.1837T>A (p.Ser613Thr)	LRRIQ1 (S613T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308696	NM_001079910.2(LRRIQ1):c.1843T>C (p.Ser615Pro)	LRRIQ1 (S615P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2275318	NM_001079910.2(LRRIQ1):c.1858A>G (p.Asn620Asp)	LRRIQ1 (N620D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121066	NM_001079910.2(LRRIQ1):c.1930G>A (p.Glu644Lys)	LRRIQ1 (E644K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121067	NM_001079910.2(LRRIQ1):c.1957A>G (p.Ser653Gly)	LRRIQ1 (S653G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285013	NM_001079910.2(LRRIQ1):c.1978A>G (p.Thr660Ala)	LRRIQ1 (T660A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317496	NM_001079910.2(LRRIQ1):c.2003A>G (p.Glu668Gly)	LRRIQ1 (E668G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482102	NM_001079910.2(LRRIQ1):c.2024A>G (p.Asp675Gly)	LRRIQ1 (D675G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121068	NM_001079910.2(LRRIQ1):c.2108C>G (p.Ser703Cys)	LRRIQ1 (S703C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121069	NM_001079910.2(LRRIQ1):c.2185G>A (p.Val729Ile)	LRRIQ1 (V729I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394859	NM_001079910.2(LRRIQ1):c.2226A>C (p.Arg742Ser)	LRRIQ1 (R742S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395963	NM_001079910.2(LRRIQ1):c.2332A>T (p.Thr778Ser)	LRRIQ1 (T778S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618857	NM_001079910.2(LRRIQ1):c.2405C>A (p.Thr802Lys)	LRRIQ1 (T802K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643202	NM_001079910.2(LRRIQ1):c.2439A>C (p.Thr813=)	LRRIQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3291818	NM_001079910.2(LRRIQ1):c.2477G>A (p.Arg826Gln)	LRRIQ1 (R826Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2279043	NM_001079910.2(LRRIQ1):c.2509A>T (p.Ser837Cys)	LRRIQ1 (S837C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300036	NM_001079910.2(LRRIQ1):c.2536G>A (p.Asp846Asn)	LRRIQ1 (D846N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355977	NM_001079910.2(LRRIQ1):c.2552A>G (p.His851Arg)	LRRIQ1 (H851R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347553	NM_001079910.2(LRRIQ1):c.2561C>A (p.Ala854Asp)	LRRIQ1 (A854D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121070	NM_001079910.2(LRRIQ1):c.2630A>G (p.His877Arg)	LRRIQ1 (H877R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121071	NM_001079910.2(LRRIQ1):c.2701T>G (p.Ser901Ala)	LRRIQ1 (S901A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538982	NM_001079910.2(LRRIQ1):c.2702C>T (p.Ser901Phe)	LRRIQ1 (S901F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206262	NM_001079910.2(LRRIQ1):c.2764A>G (p.Thr922Ala)	LRRIQ1 (T922A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293382	NM_001079910.2(LRRIQ1):c.2971C>A (p.Pro991Thr)	LRRIQ1 (P991T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324660	NM_001079910.2(LRRIQ1):c.3042G>C (p.Leu1014Phe)	LRRIQ1 (L1014F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291821	NM_001079910.2(LRRIQ1):c.3148G>C (p.Val1050Leu)	LRRIQ1 (V1050L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610894	NM_001079910.2(LRRIQ1):c.3155C>T (p.Ala1052Val)	LRRIQ1 (A1052V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269991	NM_001079910.2(LRRIQ1):c.3196A>C (p.Ile1066Leu)	LRRIQ1 (I1066L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121072	NM_001079910.2(LRRIQ1):c.3241G>A (p.Val1081Ile)	LRRIQ1 (V1081I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530965	NM_001079910.2(LRRIQ1):c.3268C>G (p.His1090Asp)	LRRIQ1 (H1090D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358968	NM_001079910.2(LRRIQ1):c.3275G>T (p.Cys1092Phe)	LRRIQ1 (C1092F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214539	NM_001079910.2(LRRIQ1):c.3403G>A (p.Ala1135Thr)	LRRIQ1 (A1135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456353	NM_001079910.2(LRRIQ1):c.3443C>T (p.Ser1148Leu)	LRRIQ1 (S1148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121074	NM_001079910.2(LRRIQ1):c.3544A>G (p.Ile1182Val)	LRRIQ1 (I1182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246382	NM_001079910.2(LRRIQ1):c.3546A>G (p.Ile1182Met)	LRRIQ1 (I1182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468466	NM_001079910.2(LRRIQ1):c.3565T>C (p.Phe1189Leu)	LRRIQ1 (F1189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486555	NM_001079910.2(LRRIQ1):c.3610T>A (p.Leu1204Met)	LRRIQ1 (L1204M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265919	NM_001079910.2(LRRIQ1):c.3619C>G (p.Leu1207Val)	LRRIQ1 (L1207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121075	NM_001079910.2(LRRIQ1):c.3646G>A (p.Glu1216Lys)	LRRIQ1 (E1216K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121076	NM_001079910.2(LRRIQ1):c.3653G>T (p.Gly1218Val)	LRRIQ1 (G1218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545088	NM_001079910.2(LRRIQ1):c.3713C>A (p.Thr1238Lys)	LRRIQ1 (T1238K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545089	NM_001079910.2(LRRIQ1):c.3717C>A (p.Asn1239Lys)	LRRIQ1 (N1239K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291816	NM_001079910.2(LRRIQ1):c.3782C>A (p.Pro1261Gln)	LRRIQ1 (P1261Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621816	NM_001079910.2(LRRIQ1):c.3815C>T (p.Ser1272Phe)	LRRIQ1 (S1272F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291823	NM_001079910.2(LRRIQ1):c.3902A>G (p.Asp1301Gly)	LRRIQ1 (D1301G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356359	NM_001079910.2(LRRIQ1):c.3905G>A (p.Ser1302Asn)	LRRIQ1 (S1302N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520709	NM_001079910.2(LRRIQ1):c.3914G>A (p.Ser1305Asn)	LRRIQ1 (S1305N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316748	NM_001079910.2(LRRIQ1):c.3917G>C (p.Ser1306Thr)	LRRIQ1 (S1306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526134	NM_001079910.2(LRRIQ1):c.3946G>C (p.Glu1316Gln)	LRRIQ1 (E1316Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408950	NM_001079910.2(LRRIQ1):c.3965C>G (p.Ser1322Cys)	LRRIQ1 (S1322C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269461	NM_001079910.2(LRRIQ1):c.3965C>A (p.Ser1322Tyr)	LRRIQ1 (S1322Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291825	NM_001079910.2(LRRIQ1):c.3991G>A (p.Glu1331Lys)	LRRIQ1 (E1331K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613371	NM_001079910.2(LRRIQ1):c.4012G>A (p.Ala1338Thr)	LRRIQ1 (A1338T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121079	NM_001079910.2(LRRIQ1):c.4055G>A (p.Arg1352His)	LRRIQ1 (R1352H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542086	NM_001079910.2(LRRIQ1):c.4094C>T (p.Ala1365Val)	LRRIQ1 (A1365V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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