OCLN[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	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
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 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 221704	GRCh38/hg38 5q13.2(chr5:69424592-69579800)x1	GTF2H2C, SNORD13B-1 +3 more	Copy number loss	Premature ovarian failure	GBenign
Select item 156974	CM000667.1:g.68757774_68828296dup	LOC101928924, OCLN	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 1276122	NC_000005.10:g.69492434G>A	OCLN	Single nucleotide variant	not provided	GBenign
Select item 378309	NM_002538.4(OCLN):c.-86C>T	OCLN	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 387208	NM_002538.4(OCLN):c.-75G>A	OCLN	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 515390	NM_002538.4(OCLN):c.-69+16C>G	OCLN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1247058	NM_001205254.2(OCLN):c.-69+86C>T	OCLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174443	NM_001205254.2(OCLN):c.-69+232C>T	OCLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 150774	GRCh38/hg38 5q13.2(chr5:69495443-71032915)x1	GTF2H2C, LOC111089946 +9 more	Copy number loss	See cases	GBenign
Select item 591558	NM_001205254.2(OCLN):c.-68-2A>G	OCLN	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 159461	NM_001205254.2(OCLN):c.4T>C (p.Ser2Pro)	OCLN (S2P)	Single nucleotide variant (missense variant +1 more)	Pseudo-TORCH syndrome 1	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 817656	NM_001205254.2(OCLN):c.23del (p.Ser8fs)	OCLN (S8fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2711780	NM_001205254.2(OCLN):c.35dup (p.Tyr12Ter)	OCLN (Y12*)	Duplication (nonsense +1 more)	not provided	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 1654237	NM_001205254.2(OCLN):c.50+18T>C	OCLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240479	NM_001205254.2(OCLN):c.51-224T>C	OCLN	Single nucleotide variant (intron 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 1631125	NM_001205254.2(OCLN):c.51-12T>C	OCLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674076	NM_001205254.2(OCLN):c.51-8C>A	OCLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2878760	NM_001205254.2(OCLN):c.57G>A (p.Pro19=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 159462	NM_001205254.2(OCLN):c.70C>G (p.Pro24Ala)	OCLN (P24A)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
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 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 2125619	NM_001205254.2(OCLN):c.138_139del (p.Phe46fs)	OCLN (F46fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 6750	NM_001205254.2(OCLN):c.171_193del (p.Lys57fs)	OCLN (K57fs)	Deletion (frameshift variant +1 more)	Pseudo-TORCH syndrome 1	GPathogenic
Select item 211775	NM_001205254.2(OCLN):c.173_194del (p.Trp58fs)	OCLN (W58fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 211776	NM_001205254.2(OCLN):c.197G>T (p.Arg66Leu)	OCLN (R66L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
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 2792136	NM_001205254.2(OCLN):c.204G>C (p.Leu68=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 384939	NM_001205254.2(OCLN):c.237C>T (p.Ile79=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 217516	NM_001205254.2(OCLN):c.252del (p.Ser85fs)	OCLN (S85fs)	Deletion (frameshift variant +1 more)	Pseudo-TORCH syndrome 1	GLikely pathogenic
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 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 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 504127	NM_001205254.2(OCLN):c.351CTATGG[2] (p.118YG[5])	OCLN	Microsatellite (inframe_deletion +1 more)	not provided	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 1632900	NM_001205254.2(OCLN):c.360T>C (p.Tyr120=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 159459	NM_001205254.2(OCLN):c.384C>T (p.Tyr128=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 159460	NM_001205254.2(OCLN):c.452C>T (p.Ala151Val)	OCLN (A151V)	Single nucleotide variant (missense variant +1 more)	Pseudo-TORCH syndrome 1 +3 more	GConflicting classifications of pathogenicity
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 430127	NM_001205254.2(OCLN):c.455C>T (p.Ala152Val)	OCLN (A152V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
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 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 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 546084	NM_001205254.2(OCLN):c.469G>T (p.Val157Phe)	OCLN (V157F)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 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 6751	NM_001205254.2(OCLN):c.512dup (p.Tyr171Ter)	OCLN (Y171*)	Duplication (nonsense +1 more)	Pseudo-TORCH syndrome 1	GPathogenic
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 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 183322	NM_001205254.2(OCLN):c.514dup (p.Tyr172fs)	OCLN (Y172fs)	Duplication (frameshift variant +1 more)	Pseudo-TORCH syndrome 1	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 515879	NM_001205254.2(OCLN):c.544C>T (p.Leu182=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 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 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 2198738	NM_001205254.2(OCLN):c.627T>C (p.Gly209=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 6752	NM_001205254.2(OCLN):c.656T>C (p.Phe219Ser)	OCLN (F219S)	Single nucleotide variant (missense variant +1 more)	Pseudo-TORCH syndrome 1	GPathogenic
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 138568	NM_001205254.2(OCLN):c.699G>A (p.Leu233=)	OCLN	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GBenign
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 451555	NM_001205254.2(OCLN):c.724C>T (p.Gln242Ter)	OCLN (Q242*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1196496	NM_001205254.2(OCLN):c.729+288C>T	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 384169	NM_001205254.2(OCLN):c.730-7T>C	OCLN	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 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 383710	NM_001205254.2(OCLN):c.754A>G (p.Met252Val)	OCLN (M252V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
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 2777684	NM_001205254.2(OCLN):c.810G>A (p.Lys270=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 1327776	NM_001205254.2(OCLN):c.891+3_891+6del	OCLN	Deletion (splice donor variant)	not provided	GUncertain significance

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