ClinVar for Gene (Select 79745) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267778	NM_024692.6(CLIP4):c.1327A>G (p.Lys443Glu)	CLIP4 (K443E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267776	NM_024692.6(CLIP4):c.254T>G (p.Ile85Ser)	CLIP4 (I85S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267775	NM_024692.6(CLIP4):c.575A>G (p.His192Arg)	CLIP4 (H192R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267774	NM_024692.6(CLIP4):c.166T>C (p.Cys56Arg)	CLIP4 (C56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267773	NM_024692.6(CLIP4):c.1942T>A (p.Phe648Ile)	CLIP4 (F648I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267772	NM_024692.6(CLIP4):c.131G>A (p.Cys44Tyr)	CLIP4 (C44Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267771	NM_024692.6(CLIP4):c.434G>A (p.Arg145Gln)	CLIP4 (R145Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267770	NM_024692.6(CLIP4):c.259A>G (p.Ile87Val)	CLIP4 (I87V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247472	NC_000002.11:g.(?_29287735)_(29430158_?)del	ALK, CLIP4 +1 more	Deletion	not provided	GPathogenic
Select item 3247359	NC_000002.11:g.(?_29119585)_(29420552_?)dup	ALK, CLIP4 +3 more	Duplication	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3145857	NM_024692.6(CLIP4):c.56G>A (p.Arg19Lys)	CLIP4 (R19K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145856	NM_024692.6(CLIP4):c.499A>G (p.Arg167Gly)	CLIP4 (R167G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145855	NM_024692.6(CLIP4):c.1417A>G (p.Thr473Ala)	CLIP4 (T473A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062642	GRCh37/hg19 2p23.2-23.1(chr2:28244046-30256324)x3	ALK, BABAM2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 2650788	NC_000002.12:g.29189528C>T	CLIP4	Single nucleotide variant	not provided	GBenign
Select item 2558057	NM_024692.6(CLIP4):c.878G>A (p.Gly293Glu)	CLIP4 (G293E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556446	NM_024692.6(CLIP4):c.718G>A (p.Ala240Thr)	CLIP4 (A240T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551389	NM_024692.6(CLIP4):c.1048A>C (p.Ser350Arg)	CLIP4 (S350R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546336	NM_024692.6(CLIP4):c.526A>G (p.Lys176Glu)	CLIP4 (K176E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513521	NM_024692.6(CLIP4):c.698T>C (p.Met233Thr)	CLIP4 (M233T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488021	NM_024692.6(CLIP4):c.1082A>G (p.His361Arg)	CLIP4 (H361R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484736	NM_024692.6(CLIP4):c.747G>C (p.Gln249His)	CLIP4 (Q249H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477966	NM_024692.6(CLIP4):c.91G>A (p.Val31Ile)	CLIP4 (V31I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476557	NM_024692.6(CLIP4):c.1443C>G (p.Cys481Trp)	CLIP4 (C481W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472402	NM_024692.6(CLIP4):c.254T>C (p.Ile85Thr)	CLIP4 (I85T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 2404860	NM_024692.6(CLIP4):c.1542G>T (p.Trp514Cys)	CLIP4 (W514C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382996	NM_024692.6(CLIP4):c.518C>T (p.Ser173Leu)	CLIP4 (S173L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381305	NM_024692.6(CLIP4):c.620T>G (p.Leu207Trp)	CLIP4 (L207W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369476	NM_024692.6(CLIP4):c.416G>A (p.Gly139Glu)	CLIP4 (G139E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343142	NM_024692.6(CLIP4):c.1904A>G (p.Asn635Ser)	CLIP4 (N635S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336205	NM_024692.6(CLIP4):c.299A>G (p.Asn100Ser)	CLIP4 (N100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316185	NM_024692.6(CLIP4):c.397A>G (p.Thr133Ala)	CLIP4 (T133A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294436	NM_024692.6(CLIP4):c.721G>A (p.Ala241Thr)	CLIP4 (A241T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291755	NM_024692.6(CLIP4):c.991G>A (p.Val331Ile)	CLIP4 (V331I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282063	NM_024692.6(CLIP4):c.1073A>C (p.Asn358Thr)	CLIP4 (N358T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280312	NM_024692.6(CLIP4):c.1927G>A (p.Val643Met)	CLIP4 (V643M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253427	NM_024692.6(CLIP4):c.1861G>C (p.Val621Leu)	CLIP4 (V621L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242189	NM_024692.6(CLIP4):c.1017G>T (p.Lys339Asn)	CLIP4 (K339N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237109	NM_024692.6(CLIP4):c.1757C>T (p.Ser586Phe)	CLIP4 (S586F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233028	NM_024692.6(CLIP4):c.1426G>A (p.Ala476Thr)	CLIP4 (A476T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226882	NM_024692.6(CLIP4):c.1265T>C (p.Leu422Pro)	CLIP4 (L422P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	HADHB, HEATR5B +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 1054327	NC_000002.11:g.(?_29119585)_(29450548_?)dup	ALK, CLIP4 +3 more	Duplication	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 1054326	NC_000002.11:g.(?_29119585)_(30143525_?)dup	TOGARAM2, ALK +3 more	Duplication	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 979976	GRCh37/hg19 2p23.2(chr2:29363817-29675766)x1	ALK, CLIP4	Copy number loss	not provided	GUncertain significance
Select item 814226	GRCh37/hg19 2p23.2(chr2:28387514-29616031)x3	CLIP4, FOSL2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 771696	NM_024692.6(CLIP4):c.1665A>G (p.Thr555=)	CLIP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 562660	GRCh37/hg19 2p23.2-22.3(chr2:29240004-32380876)x1	SPAST, ALK +14 more	Copy number loss	not provided	GPathogenic
Select item 562596	GRCh37/hg19 2p23.2(chr2:29156446-29716164)x4	PCARE, ALK +3 more	Copy number gain	not provided	GLikely benign
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442879	GRCh37/hg19 2p23.2(chr2:29317927-29706226)x1	ALK, CLIP4	Copy number loss	See cases	GUncertain significance
Select item 442481	GRCh37/hg19 2p23.2-23.1(chr2:28306106-30052309)x3	ALK, BABAM2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 155287	GRCh38/hg38 2p23.2(chr2:28557445-29437643)x3	ALK, CLIP4 +37 more	Copy number gain	See cases	GUncertain significance
Select item 154217	GRCh38/hg38 2p23.2(chr2:28561270-29446956)x3	ALK, CLIP4 +37 more	Copy number gain	See cases	GUncertain significance
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 149082	GRCh38/hg38 2p23.2(chr2:28574111-29442195)x3	ALK, CLIP4 +35 more	Copy number gain	See cases	GUncertain significance
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 68