ClinVar for Gene (Select 8483) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 155

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3492977	NM_003613.4(CILP):c.3314G>C (p.Arg1105Thr)	CILP (R1105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492976	NM_003613.4(CILP):c.3285C>G (p.Cys1095Trp)	CILP (C1095W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492975	NM_003613.4(CILP):c.860T>A (p.Leu287His)	CILP (L287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492974	NM_003613.4(CILP):c.2695C>T (p.Leu899Phe)	CILP (L899F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492973	NM_003613.4(CILP):c.645C>G (p.Asp215Glu)	CILP (D215E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492971	NM_003613.4(CILP):c.2095T>G (p.Trp699Gly)	CILP (W699G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492970	NM_003613.4(CILP):c.226G>A (p.Ala76Thr)	CILP (A76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492969	NM_003613.4(CILP):c.2171G>C (p.Arg724Thr)	CILP (R724T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492968	NM_003613.4(CILP):c.1878C>A (p.Phe626Leu)	CILP (F626L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492967	NM_003613.4(CILP):c.317G>A (p.Gly106Asp)	CILP (G106D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492966	NM_003613.4(CILP):c.2005A>C (p.Thr669Pro)	CILP (T669P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492965	NM_003613.4(CILP):c.199G>A (p.Gly67Arg)	CILP (G67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492964	NM_003613.4(CILP):c.938T>C (p.Met313Thr)	CILP (M313T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492963	NM_003613.4(CILP):c.3280C>T (p.Arg1094Trp)	CILP (R1094W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492962	NM_003613.4(CILP):c.934G>T (p.Val312Leu)	CILP (V312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492960	NM_003613.4(CILP):c.2879T>C (p.Ile960Thr)	CILP (I960T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492959	NM_003613.4(CILP):c.2162G>A (p.Arg721Lys)	CILP (R721K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492958	NM_003613.4(CILP):c.859C>T (p.Leu287Phe)	CILP (L287F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492957	NM_003613.4(CILP):c.3095G>C (p.Ser1032Thr)	CILP (S1032T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492956	NM_003613.4(CILP):c.1235G>A (p.Arg412Gln)	CILP (R412Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492955	NM_003613.4(CILP):c.437G>A (p.Arg146Gln)	CILP (R146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392161	GRCh37/hg19 15q22.31(chr15:64920533-66013473)x3	ANKDD1A, CILP +22 more	Copy number gain	not provided	GUncertain significance
Select item 3267377	NM_003613.4(CILP):c.1889G>A (p.Arg630Gln)	CILP (R630Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267376	NM_003613.4(CILP):c.278A>T (p.Glu93Val)	CILP (E93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267375	NM_003613.4(CILP):c.210C>A (p.Asp70Glu)	CILP (D70E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267374	NM_003613.4(CILP):c.251G>A (p.Arg84His)	CILP (R84H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267373	NM_003613.4(CILP):c.329A>G (p.His110Arg)	CILP (H110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267372	NM_003613.4(CILP):c.2183C>A (p.Thr728Asn)	CILP (T728N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267370	NM_003613.4(CILP):c.660G>C (p.Met220Ile)	CILP (M220I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267369	NM_003613.4(CILP):c.3035G>A (p.Gly1012Glu)	CILP (G1012E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267368	NM_003613.4(CILP):c.232C>T (p.Arg78Cys)	CILP (R78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267367	NM_003613.4(CILP):c.1547G>A (p.Arg516His)	CILP (R516H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145033	NM_003613.4(CILP):c.959G>A (p.Arg320Gln)	CILP (R320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145032	NM_003613.4(CILP):c.772A>G (p.Ser258Gly)	CILP (S258G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145031	NM_003613.4(CILP):c.743A>G (p.Lys248Arg)	CILP (K248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145030	NM_003613.4(CILP):c.518G>A (p.Arg173His)	CILP (R173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145029	NM_003613.4(CILP):c.407G>A (p.Arg136His)	CILP (R136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145028	NM_003613.4(CILP):c.374G>A (p.Arg125Gln)	CILP (R125Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145027	NM_003613.4(CILP):c.344A>C (p.Glu115Ala)	CILP (E115A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145026	NM_003613.4(CILP):c.3367C>G (p.Gln1123Glu)	CILP (Q1123E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145025	NM_003613.4(CILP):c.3100C>T (p.Arg1034Cys)	CILP (R1034C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145024	NM_003613.4(CILP):c.3055C>G (p.Arg1019Gly)	CILP (R1019G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145023	NM_003613.4(CILP):c.2980C>T (p.Arg994Trp)	CILP (R994W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145022	NM_003613.4(CILP):c.2593G>A (p.Glu865Lys)	CILP (E865K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145021	NM_003613.4(CILP):c.2502A>T (p.Gln834His)	CILP (Q834H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145020	NM_003613.4(CILP):c.247G>A (p.Asp83Asn)	CILP (D83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145019	NM_003613.4(CILP):c.2411A>G (p.Asn804Ser)	CILP (N804S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145018	NM_003613.4(CILP):c.2343G>C (p.Glu781Asp)	CILP (E781D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145017	NM_003613.4(CILP):c.2251C>T (p.Arg751Trp)	CILP (R751W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145016	NM_003613.4(CILP):c.217C>T (p.Arg73Trp)	CILP (R73W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145015	NM_003613.4(CILP):c.1963C>T (p.Arg655Trp)	CILP (R655W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145014	NM_003613.4(CILP):c.1717C>T (p.Arg573Trp)	CILP (R573W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145013	NM_003613.4(CILP):c.1691T>G (p.Val564Gly)	CILP (V564G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145012	NM_003613.4(CILP):c.1616T>C (p.Leu539Pro)	CILP (L539P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145011	NM_003613.4(CILP):c.1516C>T (p.Arg506Cys)	CILP (R506C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145010	NM_003613.4(CILP):c.1412C>G (p.Thr471Arg)	CILP (T471R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145008	NM_003613.4(CILP):c.1195G>A (p.Glu399Lys)	CILP (E399K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060299	NM_003613.4(CILP):c.3496G>A (p.Gly1166Ser)	CILP (G1166S)	Single nucleotide variant (missense variant)	CILP-related disorder	GBenign
Select item 3058903	NM_003613.4(CILP):c.2936A>G (p.Gln979Arg)	CILP (Q979R)	Single nucleotide variant (missense variant)	CILP-related disorder	GBenign
Select item 3046088	NM_003613.4(CILP):c.1458G>A (p.Thr486=)	CILP	Single nucleotide variant (synonymous variant)	CILP-related disorder	GLikely benign
Select item 3042257	NM_003613.4(CILP):c.1457C>T (p.Thr486Met)	CILP (T486M)	Single nucleotide variant (missense variant)	CILP-related disorder	GBenign
Select item 3039079	NM_003613.4(CILP):c.1291C>T (p.Arg431Cys)	CILP (R431C)	Single nucleotide variant (missense variant)	CILP-related disorder	GBenign
Select item 3038907	NM_003613.4(CILP):c.3234T>C (p.Thr1078=)	CILP	Single nucleotide variant (synonymous variant)	CILP-related disorder	GLikely benign
Select item 3034274	NM_003613.4(CILP):c.1343G>A (p.Arg448His)	CILP (R448H)	Single nucleotide variant (missense variant)	CILP-related disorder	GBenign
Select item 3033239	NM_003613.4(CILP):c.1941C>T (p.Asp647=)	CILP	Single nucleotide variant (synonymous variant)	CILP-related disorder	GLikely benign
Select item 3033221	NM_003613.4(CILP):c.207C>T (p.Gly69=)	CILP	Single nucleotide variant (synonymous variant)	CILP-related disorder	GLikely benign
Select item 2645458	NM_003613.4(CILP):c.198C>T (p.Gly66=)	CILP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645457	NM_003613.4(CILP):c.567C>T (p.Ser189=)	CILP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621483	NM_003613.4(CILP):c.2470G>A (p.Val824Ile)	CILP (V824I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620123	NM_003613.4(CILP):c.1081C>G (p.Leu361Val)	CILP (L361V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619800	NM_003613.4(CILP):c.976G>A (p.Val326Met)	CILP (V326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613145	NM_003613.4(CILP):c.449G>A (p.Arg150His)	CILP (R150H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2612272	NM_003613.4(CILP):c.2941G>A (p.Val981Met)	CILP (V981M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611725	NM_003613.4(CILP):c.1342C>T (p.Arg448Cys)	CILP (R448C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611207	NM_003613.4(CILP):c.158C>T (p.Pro53Leu)	CILP (P53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608653	NM_003613.4(CILP):c.439G>A (p.Asp147Asn)	CILP (D147N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608264	NM_003613.4(CILP):c.1284C>A (p.Asp428Glu)	CILP (D428E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605430	NM_003613.4(CILP):c.1245T>A (p.His415Gln)	CILP (H415Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603840	NM_003613.4(CILP):c.3008C>A (p.Ala1003Asp)	CILP (A1003D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600854	NM_003613.4(CILP):c.1632G>C (p.Arg544Ser)	CILP (R544S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598762	NM_003613.4(CILP):c.428C>T (p.Ser143Phe)	CILP (S143F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595529	NM_003613.4(CILP):c.616A>C (p.Thr206Pro)	CILP (T206P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592006	NM_003613.4(CILP):c.3101G>A (p.Arg1034His)	CILP (R1034H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2570531	NM_003613.4(CILP):c.1964G>A (p.Arg655Gln)	CILP (R655Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561258	NM_003613.4(CILP):c.1136A>G (p.Gln379Arg)	CILP (Q379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557522	NM_003613.4(CILP):c.403G>C (p.Val135Leu)	CILP (V135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554430	NM_003613.4(CILP):c.1395C>G (p.Ile465Met)	CILP (I465M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547004	NM_003613.4(CILP):c.545T>C (p.Val182Ala)	CILP (V182A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533327	NM_003613.4(CILP):c.3376C>T (p.Arg1126Cys)	CILP (R1126C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521084	NM_003613.4(CILP):c.793C>A (p.Pro265Thr)	CILP (P265T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520044	NM_003613.4(CILP):c.1478G>A (p.Arg493Gln)	CILP (R493Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518525	NM_003613.4(CILP):c.1075A>C (p.Ser359Arg)	CILP (S359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517564	NM_003613.4(CILP):c.3224G>A (p.Gly1075Asp)	CILP (G1075D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514356	NM_003613.4(CILP):c.340C>T (p.Arg114Cys)	CILP (R114C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508914	NM_003613.4(CILP):c.16G>T (p.Ala6Ser)	CILP (A6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496310	NM_003613.4(CILP):c.505G>A (p.Gly169Arg)	CILP (G169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492219	NM_003613.4(CILP):c.8G>A (p.Gly3Glu)	CILP (G3E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491425	NM_003613.4(CILP):c.1393A>G (p.Ile465Val)	CILP (I465V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477627	NM_003613.4(CILP):c.1043C>T (p.Thr348Ile)	CILP (T348I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466084	NM_003613.4(CILP):c.1924C>G (p.Leu642Val)	CILP (L642V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2