ClinVar for Gene (Select 100506658) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062858	GRCh37/hg19 5q13.2(chr5:68751939-68847066)x1	OCLN	Copy number loss	not specified	GUncertain significance
Select item 2987263	NM_001205254.2(OCLN):c.513C>T (p.Tyr171=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878760	NM_001205254.2(OCLN):c.57G>A (p.Pro19=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2792136	NM_001205254.2(OCLN):c.204G>C (p.Leu68=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777684	NM_001205254.2(OCLN):c.810G>A (p.Lys270=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2711780	NM_001205254.2(OCLN):c.35dup (p.Tyr12Ter)	OCLN (Y12*)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 2690659	NM_001205254.2(OCLN):c.630_645del (p.Gln211fs)	OCLN (Q211fs)	Deletion (frameshift variant +1 more)	Pseudo-TORCH syndrome 1	GLikely pathogenic
Select item 2664921	NM_001205254.2(OCLN):c.1254-1G>A	OCLN	Single nucleotide variant (splice acceptor variant)	Pseudo-TORCH syndrome 1	GLikely pathogenic
Select item 2615891	NM_001205254.2(OCLN):c.430A>T (p.Met144Leu)	OCLN (M144L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610413	NM_001205254.2(OCLN):c.1550A>G (p.Tyr517Cys)	OCLN (Y266C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608962	NM_001205254.2(OCLN):c.493A>C (p.Met165Leu)	OCLN (M165L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585631	NM_001205254.2(OCLN):c.175A>C (p.Thr59Pro)	OCLN (T59P)	Single nucleotide variant (missense variant +1 more)	Pseudo-TORCH syndrome 1	GUncertain significance
Select item 2585630	NM_001205254.2(OCLN):c.1216G>A (p.Gly406Ser)	OCLN (G352S +2 more)	Single nucleotide variant (missense variant)	Pseudo-TORCH syndrome 1	GUncertain significance
Select item 2543111	NM_001205254.2(OCLN):c.606G>C (p.Gln202His)	OCLN (Q202H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530287	NM_001205254.2(OCLN):c.322G>A (p.Gly108Arg)	OCLN (G108R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504719	NM_001205254.2(OCLN):c.835A>G (p.Ile279Val)	OCLN (I279V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2486280	NM_001205254.2(OCLN):c.176C>T (p.Thr59Ile)	OCLN (T59I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470246	NM_001205254.2(OCLN):c.1099C>T (p.Arg367Cys)	OCLN (R367C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458267	NM_001205254.2(OCLN):c.380G>A (p.Gly127Asp)	OCLN (G127D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2446043	NM_001205254.2(OCLN):c.1542del (p.Gly515fs)	OCLN (G264fs +2 more)	Deletion (frameshift variant)	Pseudo-TORCH syndrome 1	GLikely pathogenic
Select item 2434486	NM_001205254.2(OCLN):c.944A>T (p.Tyr315Phe)	OCLN (Y261F +2 more)	Single nucleotide variant (missense variant)	Pseudo-TORCH syndrome 1	GUncertain significance
Select item 2434485	NM_001205254.2(OCLN):c.811A>G (p.Met271Val)	OCLN (M20V +1 more)	Single nucleotide variant (missense variant)	Pseudo-TORCH syndrome 1	GUncertain significance
Select item 2434484	NM_001205254.2(OCLN):c.215T>G (p.Ile72Ser)	OCLN (I72S)	Single nucleotide variant (missense variant +1 more)	Pseudo-TORCH syndrome 1	GUncertain significance
Select item 2434483	NM_001205254.2(OCLN):c.472A>G (p.Thr158Ala)	OCLN (T158A)	Single nucleotide variant (missense variant +1 more)	Pseudo-TORCH syndrome 1	GUncertain significance
Select item 2411235	NM_001205254.2(OCLN):c.1530C>G (p.Ile510Met)	OCLN (I259M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408123	NM_001205254.2(OCLN):c.316T>G (p.Tyr106Asp)	OCLN (Y106D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402545	NM_001205254.2(OCLN):c.1515C>G (p.Ser505Arg)	OCLN (S451R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340146	NM_001205254.2(OCLN):c.316T>C (p.Tyr106His)	OCLN (Y106H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335739	NM_001205254.2(OCLN):c.12G>C (p.Arg4Ser)	OCLN (R4S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323988	NM_001205254.2(OCLN):c.853C>A (p.His285Asn)	OCLN (H285N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319168	NM_001205254.2(OCLN):c.803GAA[1] (p.Arg269del)	OCLN (R18del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2288692	NM_001205254.2(OCLN):c.1111G>T (p.Gly371Cys)	OCLN (G317C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275724	NM_001205254.2(OCLN):c.161A>C (p.His54Pro)	OCLN (H54P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245234	NM_001205254.2(OCLN):c.637T>C (p.Tyr213His)	OCLN (Y213H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239630	NM_001205254.2(OCLN):c.731C>T (p.Ala244Val)	OCLN (A244V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225927	NM_001205254.2(OCLN):c.860A>G (p.Tyr287Cys)	OCLN (Y36C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198738	NM_001205254.2(OCLN):c.627T>C (p.Gly209=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2125619	NM_001205254.2(OCLN):c.138_139del (p.Phe46fs)	OCLN (F46fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2044509	NM_001205254.2(OCLN):c.631C>A (p.Gln211Lys)	OCLN (Q211K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2040861	NM_001205254.2(OCLN):c.394A>G (p.Thr132Ala)	OCLN (T132A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1990345	NM_001205254.2(OCLN):c.458T>C (p.Leu153Ser)	OCLN (L153S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1976846	NM_001205254.2(OCLN):c.571A>G (p.Ile191Val)	OCLN (I191V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1919238	NM_001205254.2(OCLN):c.634A>G (p.Ile212Val)	OCLN (I212V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1800958	NM_001205254.2(OCLN):c.1218C>T (p.Gly406=)	OCLN	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1693897	NM_001205254.2(OCLN):c.482T>C (p.Ile161Thr)	OCLN (I161T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1674076	NM_001205254.2(OCLN):c.51-8C>A	OCLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654237	NM_001205254.2(OCLN):c.50+18T>C	OCLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632900	NM_001205254.2(OCLN):c.360T>C (p.Tyr120=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1631125	NM_001205254.2(OCLN):c.51-12T>C	OCLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 1526118	NM_001205254.2(OCLN):c.1324G>T (p.Glu442Ter)	OCLN (E191* +1 more)	Single nucleotide variant (nonsense)	Pseudo-TORCH syndrome 1	GPathogenic
Select item 1503897	NM_001205254.2(OCLN):c.199A>T (p.Ile67Phe)	OCLN (I67F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1479246	NM_001205254.2(OCLN):c.454G>A (p.Ala152Thr)	OCLN (A152T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1423593	NM_001205254.2(OCLN):c.527T>C (p.Ile176Thr)	OCLN (I176T)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1399388	NM_001205254.2(OCLN):c.871C>T (p.Pro291Ser)	OCLN (P40S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1352883	NM_001205254.2(OCLN):c.208A>G (p.Met70Val)	OCLN (M70V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1337144	NM_001205254.2(OCLN):c.659A>G (p.Tyr220Cys)	OCLN (Y220C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1337143	NM_001205254.2(OCLN):c.358T>C (p.Tyr120His)	OCLN (Y120H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1331114	NM_001205254.2(OCLN):c.733A>G (p.Ile245Val)	OCLN (I245V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1327776	NM_001205254.2(OCLN):c.891+3_891+6del	OCLN	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1323383	NM_001205254.2(OCLN):c.513C>A (p.Tyr171Ter)	OCLN (Y171*)	Single nucleotide variant (nonsense +1 more)	Pseudo-TORCH syndrome 1	GPathogenic
Select item 1313535	NM_001205254.2(OCLN):c.842G>T (p.Trp281Leu)	OCLN (W281L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309456	NM_001205254.2(OCLN):c.121C>G (p.Gln41Glu)	OCLN (Q41E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1309206	NM_001205254.2(OCLN):c.712G>A (p.Val238Ile)	OCLN (V238I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1307044	NM_001205254.2(OCLN):c.469G>A (p.Val157Ile)	OCLN (V157I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1283292	NM_001205254.2(OCLN):c.922G>C (p.Val308Leu)	OCLN (V308L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1276122	NC_000005.10:g.69492434G>A	OCLN	Single nucleotide variant	not provided	GBenign
Select item 1264011	NM_001205254.2(OCLN):c.51-143T>C	OCLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254205	NM_001205254.2(OCLN):c.891+248dup	OCLN	Duplication (intron variant)	not provided	GLikely benign
Select item 1247058	NM_001205254.2(OCLN):c.-69+86C>T	OCLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240479	NM_001205254.2(OCLN):c.51-224T>C	OCLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215292	NM_001205254.2(OCLN):c.1254-142C>A	OCLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214297	NM_001205254.2(OCLN):c.730-323C>T	OCLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208711	NM_001205254.2(OCLN):c.1400A>G (p.Tyr467Cys)	OCLN (Y216C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1207532	NM_001205254.2(OCLN):c.1299G>A (p.Lys433=)	OCLN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1206018	NM_001205254.2(OCLN):c.412A>C (p.Lys138Gln)	OCLN (K138Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1196496	NM_001205254.2(OCLN):c.729+288C>T	OCLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191783	NM_001205254.2(OCLN):c.*308C>T	OCLN	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1179623	NM_001205254.2(OCLN):c.473C>T (p.Thr158Ile)	OCLN (T158I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1176046	NM_001205254.2(OCLN):c.456G>A (p.Ala152=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1174443	NM_001205254.2(OCLN):c.-69+232C>T	OCLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1162975	NM_001205254.2(OCLN):c.233C>T (p.Ala78Val)	OCLN (A78V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1065616	NM_001205254.2(OCLN):c.52_891del (p.Lys18_Trp297del)	OCLN	Deletion (splice acceptor variant +3 more)	Pseudo-TORCH syndrome 1	GPathogenic
Select item 1029458	NM_001205254.2(OCLN):c.50+2T>C	OCLN	Single nucleotide variant (splice donor variant)	Pseudo-TORCH syndrome 1	GLikely pathogenic
Select item 1029457	NM_001205254.2(OCLN):c.106C>T (p.Arg36Ter)	OCLN (R36*)	Single nucleotide variant (nonsense +1 more)	Pseudo-TORCH syndrome 1	GPathogenic
Select item 987167	NM_001205254.2(OCLN):c.1054C>T (p.Gln352Ter)	OCLN (Q101* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 979682	GRCh37/hg19 5q13.2(chr5:68831650-70663428)x1	GTF2H2, GTF2H2C +6 more	Copy number loss	not provided	GUncertain significance
Select item 817656	NM_001205254.2(OCLN):c.23del (p.Ser8fs)	OCLN (S8fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 800964	NM_001205254.2(OCLN):c.546G>C (p.Leu182=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	Pseudo-TORCH syndrome 1	GLikely pathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LINC02219, LINC02229 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 689103	GRCh37/hg19 5q13.2(chr5:68753608-68831651)x3	OCLN	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 617596	GRCh37/hg19 5q13.1-13.2(chr5:68278453-70369959)x3	CCDC125, CCNB1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 591880	NM_001205254.2(OCLN):c.1014_1023del (p.Glu339fs)	OCLN (E339fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591558	NM_001205254.2(OCLN):c.-68-2A>G	OCLN	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 591009	NM_001205254.2(OCLN):c.1276_1283del (p.Asp426fs)	OCLN (D426fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 549600	NC_000005.10:g.69553767_71361920dup	GTF2H2, GTF2H2C +11 more	Duplication	Primary amenorrhea	GBenign

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