CILP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
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 2266602	NM_003613.4(CILP):c.3451C>A (p.Pro1151Thr)	CILP (P1151T)	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 3145026	NM_003613.4(CILP):c.3367C>G (p.Gln1123Glu)	CILP (Q1123E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248262	NM_003613.4(CILP):c.3341C>G (p.Ala1114Gly)	CILP (A1114G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049471	NM_003613.4(CILP):c.3338T>C (p.Val1113Ala)	CILP (V1113A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2517564	NM_003613.4(CILP):c.3224G>A (p.Gly1075Asp)	CILP (G1075D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785496	NM_003613.4(CILP):c.3190C>T (p.Leu1064=)	CILP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2328844	NM_003613.4(CILP):c.3169G>A (p.Asp1057Asn)	CILP (D1057N)	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 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 2408528	NM_003613.4(CILP):c.3055C>T (p.Arg1019Cys)	CILP (R1019C)	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 2603840	NM_003613.4(CILP):c.3008C>A (p.Ala1003Asp)	CILP (A1003D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327422	NM_003613.4(CILP):c.2981G>A (p.Arg994Gln)	CILP (R994Q)	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 2612272	NM_003613.4(CILP):c.2941G>A (p.Val981Met)	CILP (V981M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2399310	NM_003613.4(CILP):c.2919G>A (p.Met973Ile)	CILP (M973I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456324	NM_003613.4(CILP):c.2807G>A (p.Ser936Asn)	CILP (S936N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049475	NM_003613.4(CILP):c.2759A>G (p.Asp920Gly)	CILP (D920G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2458850	NM_003613.4(CILP):c.2698C>T (p.Arg900Trp)	CILP (R900W)	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 2375383	NM_003613.4(CILP):c.2529C>A (p.Asn843Lys)	CILP (N843K)	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 2621483	NM_003613.4(CILP):c.2470G>A (p.Val824Ile)	CILP (V824I)	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 2370004	NM_003613.4(CILP):c.2194G>C (p.Gly732Arg)	CILP (G732R)	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 2329621	NM_003613.4(CILP):c.2147T>G (p.Phe716Cys)	CILP (F716C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3145015	NM_003613.4(CILP):c.1963C>T (p.Arg655Trp)	CILP (R655W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356537	NM_003613.4(CILP):c.1951A>G (p.Thr651Ala)	CILP (T651A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355156	NM_003613.4(CILP):c.1942G>A (p.Glu648Lys)	CILP (E648K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2466084	NM_003613.4(CILP):c.1924C>G (p.Leu642Val)	CILP (L642V)	Single nucleotide variant (missense variant)	not specified	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 2347935	NM_003613.4(CILP):c.1789C>T (p.Pro597Ser)	CILP (P597S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373345	NM_003613.4(CILP):c.1765C>A (p.Leu589Met)	CILP (L589M)	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 2238647	NM_003613.4(CILP):c.1709T>C (p.Met570Thr)	CILP (M570T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238027	NM_003613.4(CILP):c.1700A>C (p.Glu567Ala)	CILP (E567A)	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 2600854	NM_003613.4(CILP):c.1632G>C (p.Arg544Ser)	CILP (R544S)	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 2392604	NM_003613.4(CILP):c.1573A>G (p.Thr525Ala)	CILP (T525A)	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 2366260	NM_003613.4(CILP):c.1546C>T (p.Arg516Cys)	CILP (R516C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456302	NM_003613.4(CILP):c.1525C>A (p.His509Asn)	CILP (H509N)	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 2520044	NM_003613.4(CILP):c.1478G>A (p.Arg493Gln)	CILP (R493Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295092	NM_003613.4(CILP):c.1477C>T (p.Arg493Trp)	CILP (R493W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2455506	NM_003613.4(CILP):c.1450C>T (p.Arg484Trp)	CILP (R484W)	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 2554430	NM_003613.4(CILP):c.1395C>G (p.Ile465Met)	CILP (I465M)	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 3034274	NM_003613.4(CILP):c.1343G>A (p.Arg448His)	CILP (R448H)	Single nucleotide variant (missense variant)	CILP-related disorder	GBenign
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 3039079	NM_003613.4(CILP):c.1291C>T (p.Arg431Cys)	CILP (R431C)	Single nucleotide variant (missense variant)	CILP-related disorder	GBenign
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 2261619	NM_003613.4(CILP):c.1234C>T (p.Arg412Trp)	CILP (R412W)	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 6312	NM_003613.4(CILP):c.1184T>C (p.Ile395Thr)	CILP (I395T)	Single nucleotide variant (missense variant)	CILP-related disorder +1 more	GBenign; risk factor
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 2620123	NM_003613.4(CILP):c.1081C>G (p.Leu361Val)	CILP (L361V)	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 2477627	NM_003613.4(CILP):c.1043C>T (p.Thr348Ile)	CILP (T348I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271575	NM_003613.4(CILP):c.1034A>G (p.His345Arg)	CILP (H345R)	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 3145033	NM_003613.4(CILP):c.959G>A (p.Arg320Gln)	CILP (R320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316144	NM_003613.4(CILP):c.958C>T (p.Arg320Trp)	CILP (R320W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302927	NM_003613.4(CILP):c.802T>C (p.Cys268Arg)	CILP (C268R)	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 930816	NM_003613.4(CILP):c.787C>T (p.Arg263Ter)	CILP (R263*)	Single nucleotide variant (nonsense)	See cases	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 2455830	NM_003613.4(CILP):c.749C>T (p.Pro250Leu)	CILP (P250L)	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 2318799	NM_003613.4(CILP):c.694C>T (p.Leu232Phe)	CILP (L232F)	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 2333222	NM_003613.4(CILP):c.629G>T (p.Gly210Val)	CILP (G210V)	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 2645457	NM_003613.4(CILP):c.567C>T (p.Ser189=)	CILP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3145030	NM_003613.4(CILP):c.518G>A (p.Arg173His)	CILP (R173H)	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 2613145	NM_003613.4(CILP):c.449G>A (p.Arg150His)	CILP (R150H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2226863	NM_003613.4(CILP):c.434G>A (p.Arg145His)	CILP (R145H)	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 3145029	NM_003613.4(CILP):c.407G>A (p.Arg136His)	CILP (R136H)	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

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