C1849700[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 300342	NM_000281.4(PCBD1):c.*253T>A	PCBD1	Single nucleotide variant (3 prime UTR variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency +1 more	GBenign/Likely benign
Select item 300343	NM_000281.4(PCBD1):c.*116C>T	PCBD1	Single nucleotide variant (3 prime UTR variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 300344	NM_000281.4(PCBD1):c.*114G>A	PCBD1	Single nucleotide variant (3 prime UTR variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 879954	NM_000281.4(PCBD1):c.*107C>T	PCBD1	Single nucleotide variant (3 prime UTR variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 300345	NM_000281.4(PCBD1):c.*36G>A	PCBD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 300346	NM_000281.4(PCBD1):c.*29G>A	PCBD1	Single nucleotide variant (3 prime UTR variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 16795	NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter)	PCBD1 (E87* +1 more)	Single nucleotide variant (nonsense +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GPathogenic/Likely pathogenic
Select item 300347	NM_000281.4(PCBD1):c.205G>A (p.Val69Met)	PCBD1 (V69M +1 more)	Single nucleotide variant (missense variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 300348	NM_000281.4(PCBD1):c.-15G>C	LOC130004020, PCBD1	Single nucleotide variant (5 prime UTR variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 300349	NM_000281.4(PCBD1):c.-27C>G	LOC130004020, PCBD1	Single nucleotide variant (5 prime UTR variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance