REPS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
Select item 1599842	NM_001286611.2(REPS1):c.2323-4del	REPS1	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1632157	NM_001286611.2(REPS1):c.2322+15_2322+16delinsAT	REPS1	Indel (intron variant)	not provided	GLikely benign
Select item 1551654	NM_001286611.2(REPS1):c.2322+8A>G	REPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2850899	NM_001286611.2(REPS1):c.2304A>G (p.Glu768=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478979	NM_001286611.2(REPS1):c.2302G>A (p.Glu768Lys)	REPS1 (E677K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200917	NM_001286611.2(REPS1):c.2301C>T (p.Ser767=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123879	NM_001286611.2(REPS1):c.2226G>A (p.Gly742=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1628276	NM_001286611.2(REPS1):c.2217-10A>G	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674282	NM_001286611.2(REPS1):c.2217-18C>T	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2357703	NM_001286611.2(REPS1):c.2207C>T (p.Ser736Phe)	REPS1 (S645F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2123259	NM_001286611.2(REPS1):c.2199A>C (p.Ser733=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1493148	NM_001286611.2(REPS1):c.2198C>T (p.Ser733Leu)	REPS1 (S706L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781879	NM_001286611.2(REPS1):c.2195C>T (p.Ala732Val)	REPS1 (A732V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640790	NM_001286611.2(REPS1):c.2171C>T (p.Thr724Met)	REPS1 (T633M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2764084	NM_001286611.2(REPS1):c.2165A>C (p.Gln722Pro)	REPS1 (Q695P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055514	NM_001286611.2(REPS1):c.2155G>C (p.Glu719Gln)	REPS1 (E628Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603644	NM_001286611.2(REPS1):c.2154T>C (p.Asp718=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1164210	NM_001286611.2(REPS1):c.2149G>A (p.Val717Ile)	REPS1 (V626I +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1488999	NM_001286611.2(REPS1):c.2107G>A (p.Val703Ile)	REPS1 (V612I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005563	NM_001286611.2(REPS1):c.2101A>G (p.Lys701Glu)	REPS1 (K674E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166943	NM_001286611.2(REPS1):c.2068-7C>T	REPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1897723	NM_001286611.2(REPS1):c.2068-12C>A	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1607856	NM_001286611.2(REPS1):c.2068-15A>G	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 638403	NM_001286611.2(REPS1):c.2056C>T (p.Pro686Ser)	REPS1 (P685S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1166689	NM_001286611.2(REPS1):c.2037A>C (p.Glu679Asp)	REPS1 (E588D +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1982856	NM_001286611.2(REPS1):c.2019A>G (p.Thr673=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053077	NM_001286611.2(REPS1):c.1985C>G (p.Ser662Cys)	REPS1 (S571C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184368	NM_001286611.2(REPS1):c.1972-8A>G	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900709	NM_001286611.2(REPS1):c.1972-11T>C	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936519	NM_001286611.2(REPS1):c.1972-20A>T	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973209	NM_001286611.2(REPS1):c.1971+11G>T	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973654	NM_001286611.2(REPS1):c.1971+10C>T	REPS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2064386	NM_001286611.2(REPS1):c.1970C>T (p.Pro657Leu)	REPS1 (P656L +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1908633	NM_001286611.2(REPS1):c.1969C>T (p.Pro657Ser)	REPS1 (P656S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018149	NM_001286611.2(REPS1):c.1956T>C (p.His652=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600447	NM_001286611.2(REPS1):c.1947C>T (p.Ala649=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1588320	NM_001286611.2(REPS1):c.1934A>G (p.Gln645Arg)	REPS1 (Q554R +3 more)	Single nucleotide variant (missense variant)	REPS1-related condition +1 more	GLikely benign
Select item 638402	NM_001286611.2(REPS1):c.1927G>A (p.Asp643Asn)	REPS1 (D642N +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 7 +1 more	GConflicting classifications of pathogenicity
Select item 1417236	NM_001286611.2(REPS1):c.1895A>C (p.Gln632Pro)	REPS1 (Q541P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2254705	NM_001286611.2(REPS1):c.1873C>A (p.Pro625Thr)	REPS1 (P625T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2077553	NM_001286611.2(REPS1):c.1839C>T (p.His613=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968358	NM_001286611.2(REPS1):c.1835C>T (p.Thr612Ile)	REPS1 (T585I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417775	NM_001286611.2(REPS1):c.1831A>G (p.Ile611Val)	REPS1 (I610V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558271	NM_001286611.2(REPS1):c.1821C>T (p.Ala607=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2235191	NM_001286611.2(REPS1):c.1805A>G (p.His602Arg)	REPS1 (H511R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1916622	NM_001286611.2(REPS1):c.1803G>A (p.Val601=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1170016	NM_001286611.2(REPS1):c.1789C>T (p.Pro597Ser)	REPS1 (P506S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1534271	NM_001286611.2(REPS1):c.1786-10_1786-7dup	REPS1	Duplication (intron variant)	REPS1-related condition +1 more	GLikely benign
Select item 2059559	NM_001286611.2(REPS1):c.1786-7T>C	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2033680	NM_001286611.2(REPS1):c.1786-19G>C	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934318	NM_001286611.2(REPS1):c.1723C>G (p.Gln575Glu)	REPS1 (Q484E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055520	NM_001286611.2(REPS1):c.1722A>G (p.Gly574=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118676	NM_001286611.2(REPS1):c.1721-14T>C	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1576132	NM_001286611.2(REPS1):c.1721-14T>G	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898590	NM_001286611.2(REPS1):c.1721-20_1721-18del	REPS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3042928	NM_001286611.2(REPS1):c.1720+10A>G	REPS1	Single nucleotide variant (intron variant)	REPS1-related condition	GLikely benign
Select item 1963596	NM_001286611.2(REPS1):c.1720+7G>A	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957458	NM_001286611.2(REPS1):c.1699C>T (p.Arg567Trp)	REPS1 (R540W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1669214	NM_001286611.2(REPS1):c.1689A>G (p.Leu563=)	REPS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2082006	NM_001286611.2(REPS1):c.1669C>G (p.His557Asp)	REPS1 (H557D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2994726	NM_001286611.2(REPS1):c.1664C>T (p.Pro555Leu)	REPS1 (P528L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1378744	NM_001286611.2(REPS1):c.1652C>G (p.Pro551Arg)	REPS1 (P524R +2 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1634487	NM_001286611.2(REPS1):c.1620G>A (p.Ser540=)	REPS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1485701	NM_001286611.2(REPS1):c.1616C>G (p.Thr539Arg)	REPS1 (T538R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1436421	NM_001286611.2(REPS1):c.1616C>T (p.Thr539Met)	REPS1 (T512M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1666259	NM_001286611.2(REPS1):c.1602-18A>G	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901837	NM_001286611.2(REPS1):c.1601+19G>C	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898752	NM_001286611.2(REPS1):c.1595G>A (p.Arg532His)	REPS1 (R532H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1165124	NM_001286611.2(REPS1):c.1528+20T>C	REPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2295131	NM_001286611.2(REPS1):c.1517G>C (p.Gly506Ala)	REPS1 (G479A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2729040	NM_001286611.2(REPS1):c.1511C>G (p.Ala504Gly)	REPS1 (A477G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656447	NM_001286611.2(REPS1):c.1509C>T (p.Phe503=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1980471	NM_001286611.2(REPS1):c.1485T>C (p.Asn495=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899595	NM_001286611.2(REPS1):c.1452A>G (p.Leu484=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902926	NM_001286611.2(REPS1):c.1431T>C (p.His477=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1375081	NM_001286611.2(REPS1):c.1427A>G (p.Asp476Gly)	REPS1 (D449G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1638282	NM_001286611.2(REPS1):c.1426+11T>C	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1350008	NM_001286611.2(REPS1):c.1426+3A>C	REPS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3035693	NM_001286611.2(REPS1):c.1425C>T (p.Ser475=)	REPS1	Single nucleotide variant (synonymous variant)	REPS1-related condition	GLikely benign
Select item 2884514	NM_001286611.2(REPS1):c.1415G>T (p.Arg472Ile)	REPS1 (R472I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064165	NM_001286611.2(REPS1):c.1392C>T (p.His464=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798159	NM_001286611.2(REPS1):c.1345G>A (p.Ala449Thr)	REPS1 (A449T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883963	NM_001286611.2(REPS1):c.1326A>G (p.Ala442=)	REPS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892264	NM_001286611.2(REPS1):c.1320C>T (p.Asn440=)	REPS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2024358	NM_001286611.2(REPS1):c.1296A>G (p.Gln432=)	REPS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1437097	NM_001286611.2(REPS1):c.1280G>A (p.Arg427His)	REPS1 (R427H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1996449	NM_001286611.2(REPS1):c.1257+8A>G	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2419260	NM_001286611.2(REPS1):c.1217C>T (p.Ser406Leu)	REPS1 (S406L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1595861	NM_001286611.2(REPS1):c.1192C>T (p.Pro398Ser)	REPS1 (P398S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2920297	NM_001286611.2(REPS1):c.1166A>G (p.Tyr389Cys)	REPS1 (Y389C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446445	NM_001286611.2(REPS1):c.1154G>A (p.Gly385Asp)	REPS1 (G385D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008151	NM_001286611.2(REPS1):c.1136-4G>A	REPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859655	NM_001286611.2(REPS1):c.1089T>C (p.Leu363=)	REPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917666	NM_001286611.2(REPS1):c.1070A>G (p.Tyr357Cys)	REPS1 (Y357C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792455	NM_001286611.2(REPS1):c.1052T>C (p.Val351Ala)	REPS1 (V351A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754908	NM_001286611.2(REPS1):c.1010C>T (p.Ala337Val)	REPS1 (A337V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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