"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214916	NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)	OPA1	Deletion (inframe_deletion +1 more)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 502104	NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys)	OPA1 (Y82C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 523555	NM_130837.3(OPA1):c.679-4G>T	OPA1, OPA1-AS1	Single nucleotide variant (intron variant)	Osteoporosis +3 more	GUncertain significance
Select item 50866	NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	OPA1 (I437M +8 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form +7 more	GConflicting classifications of pathogenicity
Select item 930477	NM_130837.3(OPA1):c.1626A>G (p.Glu542=)	OPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 930631	NM_130837.3(OPA1):c.1811C>T (p.Ser604Leu)	LOC126806913, OPA1 (S549L +9 more)	Single nucleotide variant (missense variant)	Abortive cerebellar ataxia	GUncertain significance
Select item 930410	NM_130837.3(OPA1):c.2489G>A (p.Trp830Ter)	OPA1 (W651* +9 more)	Single nucleotide variant (nonsense)	Abortive cerebellar ataxia	GLikely pathogenic
Select item 931270	NM_130837.3(OPA1):c.2924A>G (p.Asp975Gly)	OPA1 (D884G +9 more)	Single nucleotide variant (missense variant)	Abortive cerebellar ataxia	GLikely benign