"Inherited Eye Disorders lab, UCL Institute of Ophthalmology"[submitte - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 972000	NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)	HGSNAT (R239C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 974592	NM_152419.3(HGSNAT):c.743G>C (p.Gly248Ala)	HGSNAT (G248A)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 840384	NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)	HGSNAT (S296L +1 more)	Single nucleotide variant (missense variant +1 more)	HGSNAT-related condition +2 more	GUncertain significance
Select item 974593	NM_152419.3(HGSNAT):c.1252G>C (p.Gly418Arg)	HGSNAT (G130R +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 73	GLikely pathogenic
Select item 918132	NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)	HGSNAT (I361fs +2 more)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GPathogenic
Select item 974594	NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys)	HGSNAT (F140C +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 73 +2 more	GUncertain significance
Select item 974595	NM_152419.3(HGSNAT):c.1543-2A>C	HGSNAT	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 73	GPathogenic
Select item 974596	NM_152419.3(HGSNAT):c.1708del (p.Thr570fs)	HGSNAT (T282fs +3 more)	Deletion (frameshift variant)	Retinitis pigmentosa 73	GLikely pathogenic