C1849700[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1508980	NM_000281.4(PCBD1):c.294A>G (p.Gln98=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GConflicting classifications of pathogenicity
Select item 16799	NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter)	PCBD1 (Q98* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1384033	NM_000281.4(PCBD1):c.262C>T (p.Arg88Trp)	PCBD1 (R88W +1 more)	Single nucleotide variant (missense 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 16796	NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg)	PCBD1 (C82R +1 more)	Single nucleotide variant (missense variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely pathogenic
Select item 1582169	NM_000281.4(PCBD1):c.228G>A (p.Thr76=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
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 533871	NM_000281.4(PCBD1):c.179T>C (p.Leu60Pro)	PCBD1 (L60P +1 more)	Single nucleotide variant (missense variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 1046659	NM_000281.4(PCBD1):c.91C>T (p.Arg31Cys)	PCBD1 (R31C)	Single nucleotide variant (missense variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 1598103	NM_000281.4(PCBD1):c.57C>T (p.Asn19=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 1145409	NM_000281.4(PCBD1):c.27C>T (p.Ser9=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign