"Genome-Nilou Lab"[submitter] AND "FAH"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 317196	NM_001374377.1(FAH):c.-30+45G>C	FAH, LOC130057734	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign
Select item 1172733	NM_000137.4(FAH):c.82-74T>C	FAH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 92446	NM_000137.4(FAH):c.82-13G>A	FAH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 255279	NM_000137.4(FAH):c.193-23T>C	FAH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 92444	NM_000137.4(FAH):c.267G>C (p.Leu89=)	FAH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 255280	NM_000137.4(FAH):c.314+49G>A	FAH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 382389	NM_000137.4(FAH):c.315-14G>A	FAH, LOC112272621	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1172734	NM_000137.4(FAH):c.364+85T>G	FAH, LOC112272621	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1199272	NM_000137.4(FAH):c.437A>G (p.Asn146Ser)	FAH (N146S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 255281	NM_000137.4(FAH):c.455+29G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +2 more	GBenign
Select item 1172735	NM_000137.4(FAH):c.455+67T>C	FAH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 255282	NM_000137.4(FAH):c.553+33A>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +2 more	GBenign
Select item 371201	NM_000137.4(FAH):c.615del (p.Phe205fs)	FAH (F205fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 1172736	NM_000137.4(FAH):c.706+79A>G	FAH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177544	NM_000137.4(FAH):c.838-196A>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +1 more	GBenign
Select item 1177545	NM_000137.4(FAH):c.960+115G>A	FAH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 255284	NM_000137.4(FAH):c.961-35C>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +2 more	GBenign
Select item 11868	NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)	FAH (R341W)	Single nucleotide variant (missense variant)	Tyrosinemia type I +1 more	GBenign/Likely benign; other
Select item 551024	NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)	FAH (P342L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 167054	NM_000137.4(FAH):c.1056C>T (p.Ser352=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I +2 more	GBenign
Select item 1199271	NM_000137.4(FAH):c.1061C>T (p.Pro354Leu)	FAH (P354L)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 317219	NM_000137.4(FAH):c.*94T>C	FAH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

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Items: 22