CILP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 2601466	NM_153221.2(CILP2):c.66C>A (p.Asp22Glu)	CILP2 (D22E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486725	NM_153221.2(CILP2):c.166G>A (p.Ala56Thr)	CILP2 (A56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623766	NM_153221.2(CILP2):c.172G>C (p.Glu58Gln)	CILP2 (E58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258032	NM_153221.2(CILP2):c.192C>A (p.Asn64Lys)	CILP2 (N64K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349981	NM_153221.2(CILP2):c.209G>A (p.Gly70Asp)	CILP2 (G70D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267390	NM_153221.2(CILP2):c.220T>A (p.Phe74Ile)	CILP2 (F74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258033	NM_153221.2(CILP2):c.241C>A (p.Arg81Ser)	CILP2 (R81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145055	NM_153221.2(CILP2):c.262C>T (p.Arg88Cys)	CILP2 (R88C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145060	NM_153221.2(CILP2):c.325G>A (p.Val109Ile)	CILP2 (V109I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492998	NM_153221.2(CILP2):c.350C>T (p.Pro117Leu)	CILP2 (P117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616468	NM_153221.2(CILP2):c.424C>G (p.Arg142Gly)	CILP2 (R142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492991	NM_153221.2(CILP2):c.476C>T (p.Ser159Leu)	CILP2, LOC112543473 (S159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492997	NM_153221.2(CILP2):c.494G>A (p.Gly165Asp)	CILP2, LOC112543473 (G165D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145065	NM_153221.2(CILP2):c.521C>T (p.Pro174Leu)	CILP2, LOC112543473 (P174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526456	NM_153221.2(CILP2):c.547G>T (p.Gly183Trp)	CILP2, LOC112543473 (G183W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3493005	NM_153221.2(CILP2):c.550C>T (p.Arg184Cys)	CILP2, LOC112543473 (R184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492984	NM_153221.2(CILP2):c.550C>A (p.Arg184Ser)	CILP2, LOC112543473 (R184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614551	NM_153221.2(CILP2):c.563C>A (p.Ala188Glu)	CILP2, LOC112543473 (A188E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460472	NM_153221.2(CILP2):c.715A>G (p.Thr239Ala)	CILP2 (T239A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221411	NM_153221.2(CILP2):c.721G>A (p.Asp241Asn)	CILP2 (D241N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492986	NM_153221.2(CILP2):c.739C>T (p.Arg247Trp)	CILP2 (R247W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145066	NM_153221.2(CILP2):c.740G>A (p.Arg247Gln)	CILP2 (R247Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145067	NM_153221.2(CILP2):c.766C>T (p.Arg256Cys)	CILP2 (R256C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145068	NM_153221.2(CILP2):c.767G>A (p.Arg256His)	CILP2 (R256H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3492993	NM_153221.2(CILP2):c.791A>G (p.Asp264Gly)	CILP2 (D264G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145069	NM_153221.2(CILP2):c.811G>A (p.Ala271Thr)	CILP2 (A271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492981	NM_153221.2(CILP2):c.814C>A (p.Gln272Lys)	CILP2 (Q272K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551259	NM_153221.2(CILP2):c.815A>C (p.Gln272Pro)	CILP2 (Q272P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267388	NM_153221.2(CILP2):c.829G>A (p.Gly277Arg)	CILP2 (G277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492988	NM_153221.2(CILP2):c.850A>T (p.Ile284Phe)	CILP2 (I284F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554322	NM_153221.2(CILP2):c.891C>A (p.His297Gln)	CILP2 (H297Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494431	NM_153221.2(CILP2):c.902G>C (p.Arg301Pro)	CILP2 (R301P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267378	NM_153221.2(CILP2):c.913G>T (p.Ala305Ser)	CILP2 (A305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332465	NM_153221.2(CILP2):c.944C>T (p.Ala315Val)	CILP2 (A315V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492994	NM_153221.2(CILP2):c.1012C>T (p.His338Tyr)	CILP2 (H338Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145034	NM_153221.2(CILP2):c.1102G>A (p.Val368Met)	CILP2 (V368M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267382	NM_153221.2(CILP2):c.1109C>T (p.Ser370Leu)	CILP2 (S370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458116	NM_153221.2(CILP2):c.1120C>T (p.Arg374Trp)	CILP2 (R374W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2243891	NM_153221.2(CILP2):c.1121G>A (p.Arg374Gln)	CILP2 (R374Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358509	NM_153221.2(CILP2):c.1127C>T (p.Thr376Ile)	CILP2 (T376I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145035	NM_153221.2(CILP2):c.1156G>A (p.Asp386Asn)	CILP2 (D386N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522780	NM_153221.2(CILP2):c.1159C>T (p.Pro387Ser)	CILP2 (P387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220116	NM_153221.2(CILP2):c.1160C>G (p.Pro387Arg)	CILP2 (P387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3493000	NM_153221.2(CILP2):c.1168C>G (p.Arg390Gly)	CILP2 (R390G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316145	NM_153221.2(CILP2):c.1172A>G (p.Glu391Gly)	CILP2 (E391G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145036	NM_153221.2(CILP2):c.1173G>C (p.Glu391Asp)	CILP2 (E391D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492989	NM_153221.2(CILP2):c.1250A>G (p.Asp417Gly)	CILP2 (D417G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145037	NM_153221.2(CILP2):c.1255C>G (p.Arg419Gly)	CILP2 (R419G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145038	NM_153221.2(CILP2):c.1256G>A (p.Arg419His)	CILP2 (R419H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281375	NM_153221.2(CILP2):c.1285C>G (p.Arg429Gly)	CILP2 (R429G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491312	NM_153221.2(CILP2):c.1324C>T (p.Arg442Cys)	CILP2 (R442C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312023	NM_153221.2(CILP2):c.1414C>T (p.Arg472Trp)	CILP2 (R472W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267384	NM_153221.2(CILP2):c.1444G>T (p.Ala482Ser)	CILP2 (A482S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145041	NM_153221.2(CILP2):c.1456G>A (p.Glu486Lys)	CILP2 (E486K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602194	NM_153221.2(CILP2):c.1472C>G (p.Ala491Gly)	CILP2 (A491G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602195	NM_153221.2(CILP2):c.1499T>C (p.Ile500Thr)	CILP2 (I500T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267379	NM_153221.2(CILP2):c.1504T>A (p.Phe502Ile)	CILP2 (F502I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145042	NM_153221.2(CILP2):c.1522G>A (p.Asp508Asn)	CILP2 (D508N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145043	NM_153221.2(CILP2):c.1532T>C (p.Ile511Thr)	CILP2 (I511T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492995	NM_153221.2(CILP2):c.1535A>C (p.Glu512Ala)	CILP2 (E512A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365070	NM_153221.2(CILP2):c.1541C>T (p.Pro514Leu)	CILP2 (P514L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145044	NM_153221.2(CILP2):c.1554G>T (p.Gln518His)	CILP2 (Q518H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145045	NM_153221.2(CILP2):c.1590G>C (p.Glu530Asp)	CILP2 (E530D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267393	NM_153221.2(CILP2):c.1675C>T (p.Pro559Ser)	CILP2 (P559S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620534	NM_153221.2(CILP2):c.1704C>G (p.Asn568Lys)	CILP2 (N568K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267392	NM_153221.2(CILP2):c.1720G>A (p.Glu574Lys)	CILP2 (E574K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470408	NM_153221.2(CILP2):c.1735G>A (p.Ala579Thr)	CILP2 (A579T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145046	NM_153221.2(CILP2):c.1738C>T (p.Pro580Ser)	CILP2 (P580S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267383	NM_153221.2(CILP2):c.1754T>G (p.Val585Gly)	CILP2 (V585G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492999	NM_153221.2(CILP2):c.1768G>A (p.Ala590Thr)	CILP2 (A590T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404058	NM_153221.2(CILP2):c.1786G>A (p.Gly596Ser)	CILP2 (G596S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374572	NM_153221.2(CILP2):c.1816C>T (p.Arg606Trp)	CILP2 (R606W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145047	NM_153221.2(CILP2):c.1862C>T (p.Ala621Val)	CILP2 (A621V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145048	NM_153221.2(CILP2):c.1915A>T (p.Thr639Ser)	CILP2 (T639S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145050	NM_153221.2(CILP2):c.1988T>G (p.Val663Gly)	CILP2 (V663G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267387	NM_153221.2(CILP2):c.1991G>A (p.Arg664Gln)	CILP2 (R664Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492979	NM_153221.2(CILP2):c.2032G>A (p.Ala678Thr)	CILP2 (A678T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492978	NM_153221.2(CILP2):c.2033C>A (p.Ala678Asp)	CILP2 (A678D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377055	NM_153221.2(CILP2):c.2057C>G (p.Pro686Arg)	CILP2 (P686R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3492990	NM_153221.2(CILP2):c.2063C>G (p.Thr688Ser)	CILP2 (T688S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226085	NM_153221.2(CILP2):c.2065G>A (p.Gly689Ser)	CILP2 (G689S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491743	NM_153221.2(CILP2):c.2135G>T (p.Arg712Leu)	CILP2 (R712L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536544	NM_153221.2(CILP2):c.2183A>G (p.Asn728Ser)	CILP2 (N728S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317098	NM_153221.2(CILP2):c.2203C>T (p.Arg735Cys)	CILP2 (R735C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406416	NM_153221.2(CILP2):c.2225G>A (p.Arg742His)	CILP2 (R742H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267381	NM_153221.2(CILP2):c.2228C>T (p.Ala743Val)	CILP2 (A743V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590324	NM_153221.2(CILP2):c.2233G>C (p.Ala745Pro)	CILP2 (A745P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145051	NM_153221.2(CILP2):c.2264T>C (p.Val755Ala)	CILP2 (V755A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472991	NM_153221.2(CILP2):c.2270G>C (p.Gly757Ala)	CILP2 (G757A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145052	NM_153221.2(CILP2):c.2326C>T (p.Arg776Cys)	CILP2 (R776C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145053	NM_153221.2(CILP2):c.2339G>T (p.Arg780Leu)	CILP2 (R780L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267385	NM_153221.2(CILP2):c.2345A>G (p.Asp782Gly)	CILP2 (D782G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3493004	NM_153221.2(CILP2):c.2360G>A (p.Gly787Asp)	CILP2 (G787D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354531	NM_153221.2(CILP2):c.2366A>G (p.Asn789Ser)	CILP2 (N789S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3493002	NM_153221.2(CILP2):c.2375G>A (p.Cys792Tyr)	CILP2 (C792Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256696	NM_153221.2(CILP2):c.2384C>T (p.Ala795Val)	CILP2 (A795V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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