"Eurofins Ntd Llc (ga)"[submitter] AND "FAH"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92446	NM_000137.4(FAH):c.82-13G>A	FAH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 291148	NM_000137.4(FAH):c.133A>G (p.Ile45Val)	FAH (I45V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594979	NM_000137.4(FAH):c.134T>C (p.Ile45Thr)	FAH (I45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501161	NM_000137.4(FAH):c.141G>A (p.Lys47=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I +1 more	GConflicting classifications of pathogenicity
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 596360	NM_000137.4(FAH):c.237G>A (p.Lys79=)	FAH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 593178	NM_000137.4(FAH):c.242C>T (p.Ala81Val)	FAH (A81V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196216	NM_000137.4(FAH):c.243G>A (p.Ala81=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I +1 more	GConflicting classifications of pathogenicity
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 596939	NM_000137.4(FAH):c.271G>A (p.Val91Met)	FAH (V91M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 317211	NM_000137.4(FAH):c.296A>G (p.Asp99Gly)	FAH (D99G)	Single nucleotide variant (missense variant)	Tyrosinemia type I +2 more	GConflicting classifications of pathogenicity
Select item 500770	NM_000137.4(FAH):c.300C>T (p.Thr100=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 288343	NM_000137.4(FAH):c.302A>G (p.Glu101Gly)	FAH (E101G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 596057	NM_000137.4(FAH):c.318A>G (p.Ala106=)	FAH, LOC112272621	Single nucleotide variant (synonymous variant)	Tyrosinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 497627	NM_000137.4(FAH):c.409G>A (p.Val137Ile)	FAH (V137I)	Single nucleotide variant (missense variant)	Tyrosinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 290073	NM_000137.4(FAH):c.412G>A (p.Gly138Arg)	FAH (G138R)	Single nucleotide variant (missense variant)	Tyrosinemia type I +1 more	GUncertain significance
Select item 92445	NM_000137.4(FAH):c.456G>A (p.Trp152Ter)	FAH (W152*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 595332	NM_000137.4(FAH):c.510C>T (p.Gly170=)	FAH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 385421	NM_000137.4(FAH):c.553+10C>T	FAH	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 11874	NM_000137.4(FAH):c.554-1G>T	FAH	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 496929	NM_000137.4(FAH):c.565G>A (p.Val189Ile)	FAH (V189I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 597632	NM_000137.4(FAH):c.583C>G (p.Leu195Val)	FAH (L195V)	Single nucleotide variant (missense variant)	Tyrosinemia type I +1 more	GUncertain significance
Select item 502019	NM_000137.4(FAH):c.616G>A (p.Val206Ile)	FAH (V206I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594840	NM_000137.4(FAH):c.620G>A (p.Gly207Asp)	FAH (G207D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 598186	NM_000137.4(FAH):c.644C>T (p.Pro215Leu)	FAH (P215L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502070	NM_000137.4(FAH):c.648C>A (p.Ile216=)	FAH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 167053	NM_000137.4(FAH):c.696C>A (p.Asn232Lys)	FAH (N232K)	Single nucleotide variant (missense variant)	Tyrosinemia type I +1 more	GUncertain significance
Select item 500962	NM_000137.4(FAH):c.707-7_707-5del	FAH	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 598406	NM_000137.4(FAH):c.707C>T (p.Ala236Val)	FAH (A236V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290111	NM_000137.4(FAH):c.715A>T (p.Ile239Phe)	FAH (I239F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 317213	NM_000137.4(FAH):c.747A>G (p.Pro249=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 595808	NM_000137.4(FAH):c.771C>G (p.Thr257=)	FAH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 598126	NM_000137.4(FAH):c.772A>G (p.Thr258Ala)	FAH (T258A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 21058	NM_000137.4(FAH):c.782C>T (p.Pro261Leu)	FAH (P261L)	Single nucleotide variant (missense variant)	Tyrosinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 290848	NM_000137.4(FAH):c.831G>A (p.Pro277=)	FAH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317214	NM_000137.4(FAH):c.841C>A (p.Pro281Thr)	FAH (P281T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 594812	NM_000137.4(FAH):c.864C>T (p.Cys288=)	FAH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 385165	NM_000137.4(FAH):c.870C>T (p.Asp290=)	FAH	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 596508	NM_000137.4(FAH):c.891C>T (p.Ile297=)	FAH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 281004	NM_000137.4(FAH):c.921A>G (p.Gly307=)	FAH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 499798	NM_000137.4(FAH):c.934G>A (p.Ala312Thr)	FAH (A312T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 291075	NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)	FAH (Y321*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 598073	NM_000137.4(FAH):c.1022G>A (p.Arg341Gln)	FAH (R341Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 576751	NM_000137.4(FAH):c.1027G>T (p.Gly343Trp)	FAH (G343W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 593520	NM_000137.4(FAH):c.1051A>G (p.Ile351Val)	FAH (I351V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 598343	NM_000137.4(FAH):c.1057G>A (p.Gly353Arg)	FAH (G353R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 11870	NM_000137.4(FAH):c.1062+5G>A	FAH	Single nucleotide variant (intron variant)	FAH-related disorder +2 more	GPathogenic
Select item 281533	NM_000137.4(FAH):c.1079G>A (p.Gly360Asp)	FAH (G360D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498024	NM_000137.4(FAH):c.1098G>A (p.Ser366=)	FAH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 500205	NM_000137.4(FAH):c.1109C>T (p.Thr370Met)	FAH (T370M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598115	NM_000137.4(FAH):c.1195G>A (p.Asp399Asn)	FAH (D399N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498763	NM_000137.4(FAH):c.1204C>T (p.Arg402Cys)	FAH (R402C)	Single nucleotide variant (missense variant)	Tyrosinemia type I +2 more	GUncertain significance
Select item 287498	NM_000137.4(FAH):c.1205G>A (p.Arg402His)	FAH (R402H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 167055	NM_000137.4(FAH):c.1209C>T (p.Ile403=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I +1 more	GBenign
Select item 595201	NM_000137.4(FAH):c.1213_1214delinsCA (p.Phe405His)	FAH (F405H)	Indel (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 291101	NM_000137.4(FAH):c.1259G>A (p.Ter420=)	FAH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign

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Items: 58