"Centogene AG - the Rare Disease Company"[submitter] AND "FAH"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21054	NM_000137.4(FAH):c.192G>T (p.Gln64His)	FAH (Q64H)	Single nucleotide variant (missense variant)	T-substance anomaly +3 more	GPathogenic
Select item 552826	NM_000137.4(FAH):c.974C>T (p.Thr325Met)	FAH (T325M)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 11870	NM_000137.4(FAH):c.1062+5G>A	FAH	Single nucleotide variant (intron variant)	FAH-related disorder +2 more	GPathogenic

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