C0031485[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 577	NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	PAH (R408W)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 92731	NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	PAH (A403V)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 628	NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	PAH (T380M)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 607	NM_000277.3(PAH):c.1066-11G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 589	NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	PAH (P281L)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102784	NM_000277.3(PAH):c.688G>A (p.Val230Ile)	PAH (V230I)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102649	NM_000277.3(PAH):c.30C>G (p.Gly10=)	PAH	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity

ClinVar