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 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 2616468	NM_153221.2(CILP2):c.424C>G (p.Arg142Gly)	CILP2 (R142G)	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 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 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 3145069	NM_153221.2(CILP2):c.811G>A (p.Ala271Thr)	CILP2 (A271T)	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 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 2332465	NM_153221.2(CILP2):c.944C>T (p.Ala315Val)	CILP2 (A315V)	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 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 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 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 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 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 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 2620534	NM_153221.2(CILP2):c.1704C>G (p.Asn568Lys)	CILP2 (N568K)	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 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 2377055	NM_153221.2(CILP2):c.2057C>G (p.Pro686Arg)	CILP2 (P686R)	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 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 2354531	NM_153221.2(CILP2):c.2366A>G (p.Asn789Ser)	CILP2 (N789S)	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
Select item 2239592	NM_153221.2(CILP2):c.2394C>A (p.Asp798Glu)	CILP2 (D798E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244628	NM_153221.2(CILP2):c.2398G>A (p.Asp800Asn)	CILP2 (D800N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395540	NM_153221.2(CILP2):c.2494G>T (p.Val832Leu)	CILP2 (V832L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323203	NM_153221.2(CILP2):c.2495T>G (p.Val832Gly)	CILP2 (V832G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145054	NM_153221.2(CILP2):c.2566C>A (p.Arg856Ser)	CILP2 (R856S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271240	NM_153221.2(CILP2):c.2666G>A (p.Gly889Glu)	CILP2 (G889E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237538	NM_153221.2(CILP2):c.2838G>C (p.Gln946His)	CILP2 (Q946H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203928	NM_153221.2(CILP2):c.2872G>A (p.Ala958Thr)	CILP2 (A958T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556685	NM_153221.2(CILP2):c.2940C>A (p.Asp980Glu)	CILP2 (D980E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145056	NM_153221.2(CILP2):c.3028G>A (p.Val1010Met)	CILP2 (V1010M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385659	NM_153221.2(CILP2):c.3046G>A (p.Gly1016Ser)	CILP2 (G1016S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249893	NM_153221.2(CILP2):c.3065C>T (p.Ala1022Val)	CILP2 (A1022V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145057	NM_153221.2(CILP2):c.3107C>G (p.Pro1036Arg)	CILP2 (P1036R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540902	NM_153221.2(CILP2):c.3110C>A (p.Pro1037Gln)	CILP2 (P1037Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537358	NM_153221.2(CILP2):c.3115C>A (p.Pro1039Thr)	CILP2 (P1039T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600261	NM_153221.2(CILP2):c.3134C>T (p.Ala1045Val)	CILP2 (A1045V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145058	NM_153221.2(CILP2):c.3236G>A (p.Arg1079His)	CILP2 (R1079H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145059	NM_153221.2(CILP2):c.3259G>A (p.Gly1087Ser)	CILP2 (G1087S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145061	NM_153221.2(CILP2):c.3293C>T (p.Thr1098Ile)	CILP2 (T1098I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145062	NM_153221.2(CILP2):c.3328G>A (p.Gly1110Arg)	CILP2 (G1110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145063	NM_153221.2(CILP2):c.3332G>A (p.Arg1111Gln)	CILP2 (R1111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145064	NM_153221.2(CILP2):c.3339C>A (p.Ser1113Arg)	CILP2 (S1113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217290	NM_153221.2(CILP2):c.3389G>A (p.Arg1130His)	CILP2 (R1130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220564	NM_153221.2(CILP2):c.3395A>C (p.Glu1132Ala)	CILP2 (E1132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366667	NM_153221.2(CILP2):c.3451C>T (p.Arg1151Trp)	CILP2 (R1151W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589840	NM_153221.2(CILP2):c.3452G>A (p.Arg1151Gln)	CILP2 (R1151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259868	NM_153221.2(CILP2):c.3463C>G (p.Arg1155Gly)	CILP2 (R1155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688889	GRCh37/hg19 19p13.11(chr19:19560981-19962412)x3	ATP13A1, CILP2 +10 more	Copy number gain	not provided	GUncertain significance

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