"PreventionGenetics, part of Exact Sciences"[submitter] AND "UNC119"[g - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259652	NM_005148.4(UNC119):c.*1C>T	UNC119	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy +2 more	GBenign
Select item 322461	NM_005148.4(UNC119):c.626G>A (p.Arg209His)	UNC119 (R209H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 322464	NM_005148.4(UNC119):c.502C>T (p.Arg168Cys)	UNC119 (R168C +1 more)	Single nucleotide variant (missense variant)	UNC119-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1957699	NM_005148.4(UNC119):c.437+8G>T	UNC119	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 322465	NM_005148.4(UNC119):c.437+7C>T	UNC119	Single nucleotide variant (intron variant)	UNC119-related disorder +2 more	GBenign/Likely benign
Select item 636435	NM_005148.4(UNC119):c.388C>T (p.Arg130Cys)	UNC119 (R130C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3040919	NM_005148.4(UNC119):c.258C>T (p.Ile86=)	UNC119	Single nucleotide variant (5 prime UTR variant +1 more)	UNC119-related disorder	GLikely benign
Select item 1492796	NM_005148.4(UNC119):c.126G>C (p.Glu42Asp)	LOC130060555, UNC119 (E42D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 88737	NM_005148.4(UNC119):c.65G>T (p.Gly22Val)	LOC130060555, UNC119 (G22V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign