2202[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 58869	GRCh38/hg38 2p16.1(chr2:55426587-56072649)x3	CFAP36, EFEMP1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 147996	GRCh38/hg38 2p16.1(chr2:55570578-60519844)x1	BCL11A, CCDC85A +83 more	Copy number loss	See cases	GPathogenic
Select item 336605	NM_001039348.3(EFEMP1):c.*1088A>C	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 336606	NM_001039348.3(EFEMP1):c.*1063G>A	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336607	NM_001039348.3(EFEMP1):c.*1026C>T	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336608	NM_001039348.3(EFEMP1):c.*1004C>G	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336609	NM_001039348.3(EFEMP1):c.*962C>A	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336610	NM_001039348.3(EFEMP1):c.*946T>C	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 336611	NM_001039348.3(EFEMP1):c.*800C>T	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336612	NM_001039348.3(EFEMP1):c.*695T>C	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336613	NM_001039348.3(EFEMP1):c.*687T>C	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336614	NM_001039348.3(EFEMP1):c.*668C>T	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336615	NM_001039348.3(EFEMP1):c.*649C>T	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 898222	NM_001039348.3(EFEMP1):c.*507C>T	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 898223	NM_001039348.3(EFEMP1):c.*349A>T	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 336616	NM_001039348.3(EFEMP1):c.*248A>C	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336617	NM_001039348.3(EFEMP1):c.*182G>C	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 336618	NM_001039348.3(EFEMP1):c.*168A>G	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336619	NM_001039348.3(EFEMP1):c.*152G>A	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 336620	NM_001039348.3(EFEMP1):c.*146T>A	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 191301	NM_001039348.3(EFEMP1):c.*6del	EFEMP1	Deletion (3 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 2026561	NM_001039348.3(EFEMP1):c.1482G>T (p.Ter494Tyr)	EFEMP1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1294422	NM_001039348.3(EFEMP1):c.1480T>C (p.Ter494Gln)	EFEMP1	Single nucleotide variant (stop lost)	not provided	GPathogenic
Select item 2019721	NM_001039348.3(EFEMP1):c.1479T>C (p.Phe493=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624269	NM_001039348.3(EFEMP1):c.1470A>G (p.Pro490=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571980	NM_001039348.3(EFEMP1):c.1450T>C (p.Leu484=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1378805	NM_001039348.3(EFEMP1):c.1441G>T (p.Val481Leu)	EFEMP1 (V481L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1062070	NM_001039348.3(EFEMP1):c.1441G>A (p.Val481Met)	EFEMP1 (V481M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378806	NM_001039348.3(EFEMP1):c.1437C>A (p.Ser479Arg)	EFEMP1 (S479R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943983	NM_001039348.3(EFEMP1):c.1433C>T (p.Thr478Ile)	EFEMP1 (T478I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1051152	NM_001039348.3(EFEMP1):c.1432A>C (p.Thr478Pro)	EFEMP1 (T478P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866024	NM_001039348.3(EFEMP1):c.1430G>A (p.Arg477His)	EFEMP1 (R477H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1294423	NM_001039348.3(EFEMP1):c.1429C>T (p.Arg477Cys)	EFEMP1 (R477C)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic
Select item 1608836	NM_001039348.3(EFEMP1):c.1422G>A (p.Gly474=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 861496	NM_001039348.3(EFEMP1):c.1420G>C (p.Gly474Arg)	EFEMP1 (G474R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1977369	NM_001039348.3(EFEMP1):c.1418T>C (p.Ile473Thr)	EFEMP1 (I473T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 855152	NM_001039348.3(EFEMP1):c.1414A>G (p.Ser472Gly)	EFEMP1 (S472G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194014	NM_001039348.3(EFEMP1):c.1413C>T (p.Ser471=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1385200	NM_001039348.3(EFEMP1):c.1412G>A (p.Ser471Asn)	EFEMP1 (S471N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 899333	NM_001039348.3(EFEMP1):c.1386C>T (p.Ile462=)	EFEMP1	Single nucleotide variant (synonymous variant)	Doyne honeycomb retinal dystrophy +1 more	GLikely benign
Select item 1357308	NM_001039348.3(EFEMP1):c.1385T>C (p.Ile462Thr)	EFEMP1 (I462T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1645337	NM_001039348.3(EFEMP1):c.1374A>G (p.Pro458=)	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 1117213	NM_001039348.3(EFEMP1):c.1368A>G (p.Ser456=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 866535	NM_001039348.3(EFEMP1):c.1365A>T (p.Leu455Phe)	EFEMP1 (L455F)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 1637360	NM_001039348.3(EFEMP1):c.1363T>C (p.Leu455=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1014594	NM_001039348.3(EFEMP1):c.1354G>A (p.Val452Met)	EFEMP1 (V452M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 899334	NM_001039348.3(EFEMP1):c.1353C>T (p.Leu451=)	EFEMP1	Single nucleotide variant (synonymous variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 194015	NM_001039348.3(EFEMP1):c.1351C>T (p.Leu451Phe)	EFEMP1 (L451F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1653310	NM_001039348.3(EFEMP1):c.1350G>T (p.Val450=)	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 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 1009124	NM_001039348.3(EFEMP1):c.1339G>A (p.Ala447Thr)	EFEMP1 (A447T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507322	NM_001039348.3(EFEMP1):c.1333G>C (p.Val445Leu)	EFEMP1 (V445L)	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 1649160	NM_001039348.3(EFEMP1):c.1321-9T>C	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923464	NM_001039348.3(EFEMP1):c.1321-17A>G	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245420	NM_001039348.3(EFEMP1):c.1321-25C>T	EFEMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288316	NM_001039348.3(EFEMP1):c.1321-223dup	EFEMP1	Duplication (intron variant)	not provided	GBenign
Select item 1261793	NM_001039348.3(EFEMP1):c.1321-210del	EFEMP1	Deletion (intron variant)	not provided	GBenign
Select item 1220769	NM_001039348.3(EFEMP1):c.1320+144T>C	EFEMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267176	NM_001039348.3(EFEMP1):c.1320+47TGT[9]	EFEMP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1525751	NM_001039348.3(EFEMP1):c.1319G>A (p.Arg440Gln)	EFEMP1 (R440Q)	Single nucleotide variant (missense variant)	not provided	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 1042313	NM_001039348.3(EFEMP1):c.1303G>A (p.Gly435Arg)	EFEMP1 (G435R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1577279	NM_001039348.3(EFEMP1):c.1275T>C (p.Thr425=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1485699	NM_001039348.3(EFEMP1):c.1274C>T (p.Thr425Ile)	EFEMP1 (T425I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678242	NM_001039348.3(EFEMP1):c.1265C>T (p.Thr422Ile)	EFEMP1 (T422I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1035306	NM_001039348.3(EFEMP1):c.1216G>A (p.Val406Met)	EFEMP1 (V406M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626894	NM_001039348.3(EFEMP1):c.1206T>C (p.Ser402=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1048805	NM_001039348.3(EFEMP1):c.1201C>T (p.Arg401Ter)	EFEMP1 (R401*)	Single nucleotide variant (nonsense)	Cutis laxa	GPathogenic
Select item 1004980	NM_001039348.3(EFEMP1):c.1199T>C (p.Ile400Thr)	EFEMP1 (I400T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1412737	NM_001039348.3(EFEMP1):c.1198A>G (p.Ile400Val)	EFEMP1 (I400V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920695	NM_001039348.3(EFEMP1):c.1191C>T (p.Tyr397=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 523395	NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His)	EFEMP1 (Y397H)	Single nucleotide variant (missense variant)	Night blindness +4 more	GLikely pathogenic
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 2798199	NM_001039348.3(EFEMP1):c.1178T>C (p.Ile393Thr)	EFEMP1 (I393T)	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 1363076	NM_001039348.3(EFEMP1):c.1172A>C (p.Gln391Pro)	EFEMP1 (Q391P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2133503	NM_001039348.3(EFEMP1):c.1160G>T (p.Arg387Leu)	EFEMP1 (R387L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 336621	NM_001039348.3(EFEMP1):c.1160G>A (p.Arg387Gln)	EFEMP1 (R387Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1494293	NM_001039348.3(EFEMP1):c.1155G>A (p.Met385Ile)	EFEMP1 (M385I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 837756	NM_001039348.3(EFEMP1):c.1153A>T (p.Met385Leu)	EFEMP1 (M385L)	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 1108013	NM_001039348.3(EFEMP1):c.1125-4G>A	EFEMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 958301	NM_001039348.3(EFEMP1):c.1125-5T>G	EFEMP1	Single nucleotide variant (intron 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 1082426	NM_001039348.3(EFEMP1):c.1125-14G>C	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 895241	NM_001039348.3(EFEMP1):c.1120G>C (p.Glu374Gln)	EFEMP1 (E374Q)	Single nucleotide variant (missense variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 1587635	NM_001039348.3(EFEMP1):c.1119A>G (p.Pro373=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 849590	NM_001039348.3(EFEMP1):c.1118C>T (p.Pro373Leu)	EFEMP1 (P373L)	Single nucleotide variant (missense variant)	Doyne honeycomb retinal dystrophy +1 more	GUncertain significance

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