"GeneDx"[submitter] AND "OCLN"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 817656	NM_001205254.2(OCLN):c.23del (p.Ser8fs)	OCLN (S8fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
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	GConflicting classifications of pathogenicity
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 1309456	NM_001205254.2(OCLN):c.121C>G (p.Gln41Glu)	OCLN (Q41E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 384939	NM_001205254.2(OCLN):c.237C>T (p.Ile79=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 159460	NM_001205254.2(OCLN):c.452C>T (p.Ala151Val)	OCLN (A151V)	Single nucleotide variant (missense variant +1 more)	Pseudo-TORCH syndrome 1 +2 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 1307044	NM_001205254.2(OCLN):c.469G>A (p.Val157Ile)	OCLN (V157I)	Single nucleotide variant (missense variant +1 more)	not provided +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 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 515879	NM_001205254.2(OCLN):c.544C>T (p.Leu182=)	OCLN	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 138568	NM_001205254.2(OCLN):c.699G>A (p.Leu233=)	OCLN	Single nucleotide variant (synonymous 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 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 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 1327776	NM_001205254.2(OCLN):c.891+3_891+6del	OCLN	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1254205	NM_001205254.2(OCLN):c.891+248dup	OCLN	Duplication (intron variant)	not provided	GLikely benign
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 377038	NM_001205254.2(OCLN):c.922G>A (p.Val308Met)	OCLN (V308M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 451849	NM_001205254.2(OCLN):c.1000A>G (p.Lys334Glu)	OCLN (K334E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503999	NM_001205254.2(OCLN):c.1016_1017del (p.Glu339fs)	OCLN (E339fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 1215292	NM_001205254.2(OCLN):c.1254-142C>A	OCLN	Single nucleotide variant (intron 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 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 518367	NM_001205254.2(OCLN):c.1512G>C (p.Lys504Asn)	OCLN (K504N +1 more)	Single nucleotide variant (missense 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

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Items: 45