ClinVar for Gene (Select 2202) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247477	NC_000002.11:g.(?_55863372)_(56149575_?)dup	EFEMP1, PNPT1	Duplication	not provided	GUncertain significance
Select item 3247476	NC_000002.11:g.(?_56149475)_(56149575_?)del	EFEMP1	Deletion	not provided	GUncertain significance
Select item 3247475	NC_000002.11:g.(?_55887272)_(56149575_?)del	EFEMP1, PNPT1	Deletion	not provided	GUncertain significance
Select item 3087516	NM_001039348.3(EFEMP1):c.857G>A (p.Ser286Asn)	EFEMP1 (S286N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087515	NM_001039348.3(EFEMP1):c.215C>T (p.Pro72Leu)	EFEMP1 (P72L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026908	NM_001039348.3(EFEMP1):c.607C>T (p.Pro203Ser)	EFEMP1 (P203S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006306	NM_001039348.3(EFEMP1):c.1125-6C>G	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995159	NM_001039348.3(EFEMP1):c.532A>G (p.Thr178Ala)	EFEMP1 (T178A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990189	NM_001039348.3(EFEMP1):c.978G>A (p.Val326=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986210	NM_001039348.3(EFEMP1):c.1183T>C (p.Tyr395His)	EFEMP1 (Y395H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981208	NM_001039348.3(EFEMP1):c.553A>G (p.Arg185Gly)	EFEMP1 (R185G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981028	NM_001039348.3(EFEMP1):c.1202G>C (p.Arg401Pro)	EFEMP1 (R401P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955381	NM_001039348.3(EFEMP1):c.778G>A (p.Ala260Thr)	EFEMP1 (A260T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911919	NM_001039348.3(EFEMP1):c.1419A>G (p.Ile473Met)	EFEMP1 (I473M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2876535	NM_001039348.3(EFEMP1):c.761-4del	EFEMP1	Deletion (intron variant)	not provided	GBenign
Select item 2873437	NM_001039348.3(EFEMP1):c.388A>G (p.Met130Val)	EFEMP1 (M130V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871773	NM_001039348.3(EFEMP1):c.760+20G>A	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871438	NM_001039348.3(EFEMP1):c.265C>G (p.Gln89Glu)	EFEMP1 (Q89E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867380	NM_001039348.3(EFEMP1):c.1077T>C (p.Cys359=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866359	NM_001039348.3(EFEMP1):c.910C>G (p.Leu304Val)	EFEMP1 (L304V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834885	NM_001039348.3(EFEMP1):c.304G>A (p.Val102Ile)	EFEMP1 (V102I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832021	NM_001039348.3(EFEMP1):c.1143C>T (p.Val381=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828025	NM_001039348.3(EFEMP1):c.1342A>G (p.Met448Val)	EFEMP1 (M448V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825242	NM_001039348.3(EFEMP1):c.640+9C>T	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824964	NM_001039348.3(EFEMP1):c.131-6C>T	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823299	NM_001039348.3(EFEMP1):c.973C>A (p.Gln325Lys)	EFEMP1 (Q325K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819332	NM_001039348.3(EFEMP1):c.690_693dup (p.Pro232fs)	EFEMP1 (P232fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2817640	NM_001039348.3(EFEMP1):c.881-16T>C	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815580	NM_001039348.3(EFEMP1):c.517+3A>G	EFEMP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2813774	NM_001039348.3(EFEMP1):c.257A>G (p.Gln86Arg)	EFEMP1 (Q86R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812328	NM_001039348.3(EFEMP1):c.881-14G>C	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809622	NM_001039348.3(EFEMP1):c.656C>G (p.Thr219Ser)	EFEMP1 (T219S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802802	NM_001039348.3(EFEMP1):c.1177A>G (p.Ile393Val)	EFEMP1 (I393V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798199	NM_001039348.3(EFEMP1):c.1178T>C (p.Ile393Thr)	EFEMP1 (I393T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797829	NM_001039348.3(EFEMP1):c.881-4A>T	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787492	NM_001039348.3(EFEMP1):c.1165C>A (p.Leu389Met)	EFEMP1 (L389M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783322	NM_001039348.3(EFEMP1):c.881-13_881-12delinsAT	EFEMP1	Indel (intron variant)	not provided	GUncertain significance
Select item 2780779	NM_001039348.3(EFEMP1):c.488A>G (p.Tyr163Cys)	EFEMP1 (Y163C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775736	NM_001039348.3(EFEMP1):c.517+5G>A	EFEMP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2773015	NM_001039348.3(EFEMP1):c.641-5C>A	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768493	NM_001039348.3(EFEMP1):c.11C>A (p.Ala4Asp)	EFEMP1 (A4D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759970	NM_001039348.3(EFEMP1):c.482C>G (p.Ala161Gly)	EFEMP1 (A161G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729966	NM_001039348.3(EFEMP1):c.1047G>C (p.Met349Ile)	EFEMP1 (M349I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725515	NM_001039348.3(EFEMP1):c.502C>T (p.His168Tyr)	EFEMP1 (H168Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719144	NM_001039348.3(EFEMP1):c.1274C>G (p.Thr425Ser)	EFEMP1 (T425S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706898	NM_001039348.3(EFEMP1):c.564A>C (p.Gln188His)	EFEMP1 (Q188H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697794	NM_001039348.3(EFEMP1):c.130+18A>G	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2692919	NM_001039348.3(EFEMP1):c.641-14G>C	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2635191	NM_001039348.3(EFEMP1):c.888del (p.Asp296fs)	EFEMP1 (D296fs)	Deletion (frameshift variant)	EFEMP1-related disorder	GLikely pathogenic
Select item 2489203	NM_001039348.3(EFEMP1):c.1382A>G (p.His461Arg)	EFEMP1 (H461R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441181	NM_001039348.3(EFEMP1):c.1339G>T (p.Ala447Ser)	EFEMP1 (A447S)	Single nucleotide variant (missense variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 2428958	NM_001039348.3(EFEMP1):c.1318C>T (p.Arg440Ter)	EFEMP1 (R440*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2423543	NC_000002.11:g.(?_56137965)_(56144944_?)del	EFEMP1	Deletion	not provided	GUncertain significance
Select item 2423542	NC_000002.11:g.(?_56144780)_(56149575_?)dup	EFEMP1	Duplication	not provided	GUncertain significance
Select item 2416055	NM_001039348.3(EFEMP1):c.273A>G (p.Ala91=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2322345	NM_001039348.3(EFEMP1):c.623G>A (p.Arg208Gln)	EFEMP1 (R208Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2259874	NM_001039348.3(EFEMP1):c.1072C>T (p.Arg358Cys)	EFEMP1 (R358C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2160674	NM_001039348.3(EFEMP1):c.811A>G (p.Ile271Val)	EFEMP1 (I271V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133503	NM_001039348.3(EFEMP1):c.1160G>T (p.Arg387Leu)	EFEMP1 (R387L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132222	NM_001039348.3(EFEMP1):c.393G>T (p.Gln131His)	EFEMP1 (Q131H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130021	NM_001039348.3(EFEMP1):c.1001-9T>C	EFEMP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2129930	NM_001039348.3(EFEMP1):c.642C>A (p.Asp214Glu)	EFEMP1 (D214E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126665	NM_001039348.3(EFEMP1):c.293C>T (p.Thr98Ile)	EFEMP1 (T98I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124176	NM_001039348.3(EFEMP1):c.695C>A (p.Pro232Gln)	EFEMP1 (P232Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123944	NM_001039348.3(EFEMP1):c.82-16G>C	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2121667	NM_001039348.3(EFEMP1):c.761-19A>G	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114018	NM_001039348.3(EFEMP1):c.658A>G (p.Ile220Val)	EFEMP1 (I220V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111293	NM_001039348.3(EFEMP1):c.517+14A>G	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2107092	NM_001039348.3(EFEMP1):c.693A>G (p.Thr231=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101627	NM_001039348.3(EFEMP1):c.465C>T (p.His155=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099050	NM_001039348.3(EFEMP1):c.1000+3A>G	EFEMP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2094126	NM_001039348.3(EFEMP1):c.518-15G>A	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2090256	NM_001039348.3(EFEMP1):c.332_334del (p.Gly111del)	EFEMP1 (G111del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2078901	NM_001039348.3(EFEMP1):c.880+7C>T	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2078885	NM_001039348.3(EFEMP1):c.1035G>T (p.Arg345=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069652	NM_001039348.3(EFEMP1):c.859A>G (p.Ser287Gly)	EFEMP1 (S287G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065843	NM_001039348.3(EFEMP1):c.986G>A (p.Ser329Asn)	EFEMP1 (S329N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063239	NM_001039348.3(EFEMP1):c.777T>C (p.Asp259=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062984	NM_001039348.3(EFEMP1):c.1000+18T>A	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2040917	NM_001039348.3(EFEMP1):c.761-28TA[10]	EFEMP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2040743	NM_001039348.3(EFEMP1):c.466C>T (p.Arg156Cys)	EFEMP1 (R156C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032681	NM_001039348.3(EFEMP1):c.117_130+5dup	EFEMP1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2026561	NM_001039348.3(EFEMP1):c.1482G>T (p.Ter494Tyr)	EFEMP1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2019721	NM_001039348.3(EFEMP1):c.1479T>C (p.Phe493=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018927	NM_001039348.3(EFEMP1):c.641-10G>A	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013067	NM_001039348.3(EFEMP1):c.1125-16T>G	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2011915	NM_001039348.3(EFEMP1):c.1071C>T (p.Phe357=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2006112	NM_001039348.3(EFEMP1):c.568T>C (p.Cys190Arg)	EFEMP1 (C190R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003081	NM_001039348.3(EFEMP1):c.669T>C (p.Tyr223=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002476	NM_001039348.3(EFEMP1):c.1373C>G (p.Pro458Arg)	EFEMP1 (P458R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1996037	NM_001039348.3(EFEMP1):c.1321-8T>C	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995767	NM_001039348.3(EFEMP1):c.202T>C (p.Tyr68His)	EFEMP1 (Y68H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993065	NM_001039348.3(EFEMP1):c.761-17_761-16insAC	EFEMP1	Insertion (intron variant)	not provided	GLikely benign
Select item 1982446	NM_001039348.3(EFEMP1):c.757G>A (p.Val253Ile)	EFEMP1 (V253I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977369	NM_001039348.3(EFEMP1):c.1418T>C (p.Ile473Thr)	EFEMP1 (I473T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965314	NM_001039348.3(EFEMP1):c.498T>C (p.Ser166=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959878	NM_001039348.3(EFEMP1):c.445A>G (p.Ile149Val)	EFEMP1 (I149V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952287	NM_001039348.3(EFEMP1):c.692C>T (p.Thr231Ile)	EFEMP1 (T231I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950191	NM_001039348.3(EFEMP1):c.1202G>A (p.Arg401Gln)	EFEMP1 (R401Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1948920	NM_001039348.3(EFEMP1):c.881-3C>T	EFEMP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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