EGFLAM[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 58094	GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3	C9, CPLANE1 +66 more	Copy number gain	See cases	GPathogenic
Select item 145475	GRCh38/hg38 5p13.2-13.1(chr5:37907791-38426506)x3	EGFLAM, EGFLAM-AS1 +7 more	Copy number gain	See cases	GLikely benign
Select item 2514976	NM_152403.4(EGFLAM):c.14G>A (p.Arg5Gln)	EGFLAM (R5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087654	NM_152403.4(EGFLAM):c.200G>A (p.Gly67Glu)	EGFLAM (G67E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087665	NM_152403.4(EGFLAM):c.260G>A (p.Ser87Asn)	EGFLAM (S87N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490852	NM_152403.4(EGFLAM):c.274C>T (p.Arg92Trp)	EGFLAM (R92W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355541	NM_152403.4(EGFLAM):c.290C>T (p.Thr97Met)	EGFLAM (T97M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511488	NM_152403.4(EGFLAM):c.293A>G (p.Glu98Gly)	EGFLAM (E98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334759	NM_152403.4(EGFLAM):c.331C>T (p.Arg111Cys)	EGFLAM (R111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274746	NM_152403.4(EGFLAM):c.335T>C (p.Val112Ala)	EGFLAM (V112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328502	NM_152403.4(EGFLAM):c.382C>A (p.Pro128Thr)	EGFLAM (P128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461956	NM_152403.4(EGFLAM):c.386G>A (p.Arg129Gln)	EGFLAM (R129Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2655434	NM_152403.4(EGFLAM):c.393C>G (p.Val131=)	EGFLAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2533705	NM_152403.4(EGFLAM):c.415T>G (p.Cys139Gly)	EGFLAM (C139G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087672	NM_152403.4(EGFLAM):c.424C>A (p.Pro142Thr)	EGFLAM (P142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458658	NM_152403.4(EGFLAM):c.427G>C (p.Ala143Pro)	EGFLAM (A143P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522790	NM_152403.4(EGFLAM):c.461C>T (p.Ser154Leu)	EGFLAM (S154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540908	NM_152403.4(EGFLAM):c.473T>C (p.Val158Ala)	EGFLAM (V158A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387018	NM_152403.4(EGFLAM):c.500G>C (p.Ser167Thr)	EGFLAM (S167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274749	NM_152403.4(EGFLAM):c.579T>A (p.His193Gln)	EGFLAM (H193Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1235521	NM_152403.4(EGFLAM):c.685T>C (p.Trp229Arg)	EGFLAM (W229R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 60260	GRCh38/hg38 5p13.2-13.1(chr5:38397291-38433930)x1	EGFLAM, EGFLAM-AS1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 151668	GRCh38/hg38 5p13.1(chr5:38400157-38593979)x3	EGFLAM, EGFLAM-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 2242889	NM_152403.4(EGFLAM):c.745C>T (p.Pro249Ser)	EGFLAM (P15S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087674	NM_152403.4(EGFLAM):c.782A>G (p.Asp261Gly)	EGFLAM (D261G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290329	NM_152403.4(EGFLAM):c.805G>T (p.Asp269Tyr)	EGFLAM (D35Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274748	NM_152403.4(EGFLAM):c.836C>T (p.Pro279Leu)	EGFLAM (P279L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204876	NM_152403.4(EGFLAM):c.904C>A (p.Pro302Thr)	EGFLAM (P302T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274747	NM_152403.4(EGFLAM):c.1054T>C (p.Cys352Arg)	EGFLAM (C118R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221609	NM_152403.4(EGFLAM):c.1072T>C (p.Cys358Arg)	EGFLAM (C124R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602635	NM_152403.4(EGFLAM):c.1100C>T (p.Ser367Leu)	EGFLAM (S133L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272415	NM_152403.4(EGFLAM):c.1120G>A (p.Gly374Ser)	EGFLAM (G140S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370776	NM_152403.4(EGFLAM):c.1129G>A (p.Gly377Ser)	EGFLAM (G143S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274740	NM_152403.4(EGFLAM):c.1157T>C (p.Ile386Thr)	EGFLAM (I152T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087646	NM_152403.4(EGFLAM):c.1220A>G (p.Gln407Arg)	EGFLAM (Q173R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410538	NM_152403.4(EGFLAM):c.1313T>C (p.Met438Thr)	EGFLAM (M204T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623445	NM_152403.4(EGFLAM):c.1360G>A (p.Gly454Arg)	EGFLAM (G454R +1 more)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 2353658	NM_152403.4(EGFLAM):c.1381G>A (p.Val461Ile)	EGFLAM (V461I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326455	NM_152403.4(EGFLAM):c.1391C>A (p.Thr464Asn)	EGFLAM (T230N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292058	NM_152403.4(EGFLAM):c.1439G>T (p.Gly480Val)	EGFLAM (G246V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351390	NM_152403.4(EGFLAM):c.1475C>T (p.Pro492Leu)	EGFLAM (P492L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274745	NM_152403.4(EGFLAM):c.1543G>A (p.Ala515Thr)	EGFLAM (A281T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530427	NM_152403.4(EGFLAM):c.1552G>A (p.Ala518Thr)	EGFLAM (A284T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544810	NM_152403.4(EGFLAM):c.1563G>T (p.Leu521Phe)	EGFLAM (L287F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087648	NM_152403.4(EGFLAM):c.1648T>C (p.Trp550Arg)	EGFLAM (W316R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087649	NM_152403.4(EGFLAM):c.1756G>A (p.Asp586Asn)	EGFLAM-AS1, EGFLAM (D586N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3274744	NM_152403.4(EGFLAM):c.1859C>T (p.Ala620Val)	EGFLAM, EGFLAM-AS1 +1 more (A620V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087651	NM_152403.4(EGFLAM):c.1870T>C (p.Trp624Arg)	EGFLAM, EGFLAM-AS1 +1 more (W624R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360494	NM_152403.4(EGFLAM):c.1877T>C (p.Leu626Pro)	EGFLAM, EGFLAM-AS1 +1 more (L392P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087652	NM_152403.4(EGFLAM):c.1981T>A (p.Phe661Ile)	EGFLAM, EGFLAM-AS1 +1 more (F661I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087653	NM_152403.4(EGFLAM):c.1990A>C (p.Ile664Leu)	EGFLAM, EGFLAM-AS1 +1 more (I664L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2303975	NM_152403.4(EGFLAM):c.1998G>C (p.Leu666Phe)	EGFLAM, EGFLAM-AS1 +1 more (L432F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2254544	NM_152403.4(EGFLAM):c.2016G>T (p.Glu672Asp)	EGFLAM, EGFLAM-AS1 +1 more (E672D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2332763	NM_152403.4(EGFLAM):c.2024T>C (p.Phe675Ser)	EGFLAM, EGFLAM-AS1 +1 more (F441S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3274741	NM_152403.4(EGFLAM):c.2057G>T (p.Ser686Ile)	EGFLAM (S452I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274739	NM_152403.4(EGFLAM):c.2194A>C (p.Thr732Pro)	EGFLAM (T498P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087655	NM_152403.4(EGFLAM):c.2194A>G (p.Thr732Ala)	EGFLAM (T498A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087656	NM_152403.4(EGFLAM):c.2222A>G (p.Asn741Ser)	EGFLAM (N507S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362154	NM_152403.4(EGFLAM):c.2224T>C (p.Tyr742His)	EGFLAM (Y508H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087657	NM_152403.4(EGFLAM):c.2246C>T (p.Ser749Leu)	EGFLAM (S515L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087658	NM_152403.4(EGFLAM):c.2287A>G (p.Ile763Val)	EGFLAM (I529V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087659	NM_152403.4(EGFLAM):c.2315A>C (p.Lys772Thr)	EGFLAM (K538T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087660	NM_152403.4(EGFLAM):c.2335G>A (p.Val779Met)	EGFLAM (V545M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517605	NM_152403.4(EGFLAM):c.2336T>C (p.Val779Ala)	EGFLAM (V779A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087661	NM_152403.4(EGFLAM):c.2371G>A (p.Ala791Thr)	EGFLAM (A557T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339042	NM_152403.4(EGFLAM):c.2398C>T (p.Arg800Trp)	EGFLAM (R566W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274734	NM_152403.4(EGFLAM):c.2450T>G (p.Leu817Arg)	EGFLAM (L817R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397436	NM_152403.4(EGFLAM):c.2465-2611T>C	EGFLAM (Y826H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2596496	NM_152403.4(EGFLAM):c.2465C>T (p.Ala822Val)	EGFLAM (T830M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087662	NM_152403.4(EGFLAM):c.2489C>T (p.Pro830Leu)	EGFLAM (P596L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087663	NM_152403.4(EGFLAM):c.2504G>A (p.Arg835His)	EGFLAM (R601H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280718	NM_152403.4(EGFLAM):c.2527C>G (p.Pro843Ala)	EGFLAM (P609A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274738	NM_152403.4(EGFLAM):c.2534T>C (p.Ile845Thr)	EGFLAM (I611T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087664	NM_152403.4(EGFLAM):c.2576G>A (p.Arg859Lys)	EGFLAM (R2K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087666	NM_152403.4(EGFLAM):c.2631G>A (p.Met877Ile)	EGFLAM (M20I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276073	NM_152403.4(EGFLAM):c.2663T>C (p.Leu888Pro)	EGFLAM (L654P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227064	NM_152403.4(EGFLAM):c.2665C>T (p.Arg889Trp)	EGFLAM (R655W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272955	NM_152403.4(EGFLAM):c.2671G>A (p.Gly891Arg)	EGFLAM (G657R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087667	NM_152403.4(EGFLAM):c.2677C>A (p.Leu893Ile)	EGFLAM (L36I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787812	NM_152403.4(EGFLAM):c.2739C>T (p.Asn913=)	EGFLAM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3274736	NM_152403.4(EGFLAM):c.2740G>A (p.Asp914Asn)	EGFLAM (D914N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366574	NM_152403.4(EGFLAM):c.2747G>A (p.Arg916Gln)	EGFLAM (R682Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655435	NM_152403.4(EGFLAM):c.2766C>T (p.Ala922=)	EGFLAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3274735	NM_152403.4(EGFLAM):c.2804A>G (p.Asp935Gly)	EGFLAM (D935G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087669	NM_152403.4(EGFLAM):c.2805C>A (p.Asp935Glu)	EGFLAM (D701E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245446	NM_152403.4(EGFLAM):c.2807A>G (p.Tyr936Cys)	EGFLAM (Y944C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087670	NM_152403.4(EGFLAM):c.2843G>A (p.Arg948Gln)	EGFLAM (R714Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278603	NM_152403.4(EGFLAM):c.2848C>T (p.Leu950Phe)	EGFLAM (L93F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087671	NM_152403.4(EGFLAM):c.2858A>G (p.Asn953Ser)	EGFLAM (N961S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355877	NM_152403.4(EGFLAM):c.2896C>G (p.Leu966Val)	EGFLAM, LOC126807367 (L109V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508711	NM_152403.4(EGFLAM):c.2929G>A (p.Val977Met)	EGFLAM, LOC126807367 (V120M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356343	NM_152403.4(EGFLAM):c.2929G>T (p.Val977Leu)	EGFLAM, LOC126807367 (V120L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274742	NM_152403.4(EGFLAM):c.2951C>A (p.Thr984Asn)	EGFLAM, LOC126807367 (T750N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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