ClinVar (all) for Orgtrack (Select 506404) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184141	NC_000017.11:g.44001566C>T	NAGS, PYY	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1177299	NM_153006.3(NAGS):c.427-218A>G	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 1177298	NM_153006.3(NAGS):c.427-222G>A	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III +1 more	GConflicting classifications of pathogenicity
Select item 1177297	NC_000017.11:g.44001599A>T	NAGS, PYY	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 487480	NM_000531.5(OTC):c.-157T>G	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487344	NM_000531.5(OTC):c.-115C>T	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487343	NM_000531.5(OTC):c.-116C>T	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 487342	NC_000023.11:g.38352555G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487341	NM_000531.5(OTC):c.-139A>G	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487338	NC_000023.11:g.38352591C>A	OTC	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic