ClinVar for Gene (Select 9637) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3094533	NM_005102.3(FEZ2):c.862T>G (p.Ser288Ala)	FEZ2 (S288A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094532	NM_005102.3(FEZ2):c.755A>G (p.Glu252Gly)	FEZ2 (E252G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094531	NM_005102.3(FEZ2):c.698A>T (p.Lys233Met)	FEZ2 (K233M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094530	NM_005102.3(FEZ2):c.646C>G (p.Leu216Val)	FEZ2 (L216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094529	NM_005102.3(FEZ2):c.557C>T (p.Thr186Ile)	FEZ2 (T186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094528	NM_005102.3(FEZ2):c.398A>C (p.Asp133Ala)	FEZ2 (D133A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094527	NM_005102.3(FEZ2):c.30C>A (p.Phe10Leu)	FEZ2 (F10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094526	NM_005102.3(FEZ2):c.286G>T (p.Asp96Tyr)	FEZ2 (D96Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094525	NM_005102.3(FEZ2):c.280C>G (p.Leu94Val)	FEZ2 (L94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094524	NM_005102.3(FEZ2):c.211C>A (p.Pro71Thr)	FEZ2 (P71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094523	NM_005102.3(FEZ2):c.20G>C (p.Trp7Ser)	FEZ2 (W7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094521	NM_005102.3(FEZ2):c.13G>T (p.Gly5Trp)	FEZ2 (G5W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062648	GRCh37/hg19 2p22.2(chr2:36732352-36824417)x1	CRIM1, FEZ2	Copy number loss	not specified	GLikely pathogenic
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062629	GRCh37/hg19 2p22.2(chr2:36768262-36961723)x1	CRIM1, FEZ2 +1 more	Copy number loss	not specified	GLikely pathogenic
Select item 2650826	NM_005102.3(FEZ2):c.231G>C (p.Arg77=)	FEZ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2595708	NM_005102.3(FEZ2):c.1048C>G (p.Leu350Val)	FEZ2 (L377V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595592	NM_005102.3(FEZ2):c.39C>G (p.Phe13Leu)	FEZ2 (F13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569917	NM_005102.3(FEZ2):c.904-2288C>T	FEZ2 (S323L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561607	NM_005102.3(FEZ2):c.620G>T (p.Gly207Val)	FEZ2 (G207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539213	NM_005102.3(FEZ2):c.146C>A (p.Ala49Asp)	FEZ2 (A49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532729	NM_005102.3(FEZ2):c.1049T>C (p.Leu350Pro)	FEZ2 (L350P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521818	NM_005102.3(FEZ2):c.445A>G (p.Ile149Val)	FEZ2 (I149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494160	NM_005102.3(FEZ2):c.611C>T (p.Ser204Phe)	FEZ2 (S204F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493616	NM_005102.3(FEZ2):c.23A>G (p.Gln8Arg)	FEZ2 (Q8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490774	NM_005102.3(FEZ2):c.547G>A (p.Glu183Lys)	FEZ2 (E183K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482827	NM_005102.3(FEZ2):c.308C>T (p.Pro103Leu)	FEZ2 (P103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396638	NM_005102.3(FEZ2):c.904-2339A>G	FEZ2 (E306G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393128	NM_005102.3(FEZ2):c.32A>C (p.Tyr11Ser)	FEZ2 (Y11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389915	NM_005102.3(FEZ2):c.227T>G (p.Val76Gly)	FEZ2 (V76G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389075	NM_005102.3(FEZ2):c.145G>A (p.Ala49Thr)	FEZ2 (A49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366039	NM_005102.3(FEZ2):c.1031A>T (p.Asp344Val)	FEZ2 (D371V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339603	NM_005102.3(FEZ2):c.1015C>G (p.Pro339Ala)	FEZ2 (P366A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338588	NM_005102.3(FEZ2):c.904-2341G>A	FEZ2 (M305I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313387	NM_005102.3(FEZ2):c.922C>A (p.Pro308Thr)	FEZ2 (P308T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310840	NM_005102.3(FEZ2):c.278C>T (p.Ala93Val)	FEZ2 (A93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306725	NM_005102.3(FEZ2):c.644G>A (p.Arg215Lys)	FEZ2 (R215K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304015	NM_005102.3(FEZ2):c.928G>C (p.Glu310Gln)	FEZ2 (E310Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301454	NM_005102.3(FEZ2):c.799C>A (p.Gln267Lys)	FEZ2 (Q267K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288216	NM_005102.3(FEZ2):c.800A>G (p.Gln267Arg)	FEZ2 (Q267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262436	NM_005102.3(FEZ2):c.953T>C (p.Val318Ala)	FEZ2 (V318A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259996	NM_005102.3(FEZ2):c.445A>T (p.Ile149Phe)	FEZ2 (I149F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249389	NM_005102.3(FEZ2):c.136G>C (p.Gly46Arg)	FEZ2 (G46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247722	NM_005102.3(FEZ2):c.898G>A (p.Gly300Ser)	FEZ2 (G300S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245100	NM_005102.3(FEZ2):c.577A>G (p.Met193Val)	FEZ2 (M193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807879	GRCh37/hg19 2p22.2(chr2:36804036-36871577)x1	FEZ2	Copy number loss	not provided	GUncertain significance
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 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	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 1180437	NC_000002.12:g.36472472_36866823dup	LOC122757918, LOC122757919 +9 more	Duplication	See cases	Gnot provided
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	HADHA, HADHB +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 979973	GRCh37/hg19 2p22.3-22.2(chr2:36432453-38182274)x3	CRIM1, SULT6B1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 687302	GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1	ALK, BIRC6 +21 more	Copy number loss	not provided	GPathogenic
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 562540	GRCh37/hg19 2p22.2(chr2:36804289-37006684)x3	VIT, FEZ2	Copy number gain	not provided	GUncertain significance
Select item 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
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 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	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 64