"Baylor Genetics"[submitter] AND "FAH"[gene] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1928518	NM_000137.4(FAH):c.72_81dup (p.Pro28fs)	FAH (P28fs)	Duplication (frameshift variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 402229	NM_000137.4(FAH):c.81+2T>A	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 551853	NM_000137.4(FAH):c.82-1G>A	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 430378	NM_000137.4(FAH):c.107T>C (p.Ile36Thr)	FAH (I36T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2675359	NM_000137.4(FAH):c.115dup (p.Gln39fs)	FAH (Q39fs)	Duplication (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 1354594	NM_000137.4(FAH):c.122T>C (p.Leu41Pro)	FAH (L41P)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
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 3241522	NM_000137.4(FAH):c.192+1G>C	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 3241517	NM_000137.4(FAH):c.192+1G>A	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 189085	NM_000137.4(FAH):c.192+1G>T	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 550979	NM_000137.4(FAH):c.193-2A>G	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2675348	NM_000137.4(FAH):c.205del (p.Ser69fs)	FAH (S69fs)	Deletion (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2675351	NM_000137.4(FAH):c.301G>T (p.Glu101Ter)	FAH (E101*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GLikely pathogenic
Select item 2675367	NM_000137.4(FAH):c.314+1G>T	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 370334	NM_000137.4(FAH):c.314+1G>A	FAH	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 554167	NM_000137.4(FAH):c.315-2A>G	FAH, LOC112272621	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 2675356	NM_000137.4(FAH):c.315-1G>A	FAH, LOC112272621	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 1974391	NM_000137.4(FAH):c.365-2A>G	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 557452	NM_000137.4(FAH):c.398A>T (p.His133Leu)	FAH (H133L)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GConflicting classifications of pathogenicity
Select item 928613	NM_000137.4(FAH):c.424A>G (p.Arg142Gly)	FAH (R142G)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 370316	NM_000137.4(FAH):c.438del (p.Asn146fs)	FAH (N146fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 370677	NM_000137.4(FAH):c.455G>A (p.Trp152Ter)	FAH (W152*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GPathogenic/Likely pathogenic
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 558415	NM_000137.4(FAH):c.497T>G (p.Val166Gly)	FAH (V166G)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2675352	NM_000137.4(FAH):c.509G>T (p.Gly170Val)	FAH (G170V)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely pathogenic
Select item 188751	NM_000137.4(FAH):c.520C>T (p.Arg174Ter)	FAH (R174*)	Single nucleotide variant (nonsense)	Tyrosinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 2675354	NM_000137.4(FAH):c.532G>T (p.Gly178Ter)	FAH (G178*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GLikely pathogenic
Select item 646736	NM_000137.4(FAH):c.548_553+20del	FAH	Deletion (splice donor variant)	Tyrosinemia type I +1 more	GPathogenic
Select item 552185	NM_000137.4(FAH):c.553+2_553+3del	FAH	Microsatellite (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2675355	NM_000137.4(FAH):c.553+5G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely pathogenic
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 2503886	NM_000137.4(FAH):c.572_577delinsTCCAA (p.Gly191fs)	FAH (G191fs)	Indel (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 3241519	NM_000137.4(FAH):c.577T>C (p.Cys193Arg)	FAH (C193R)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2675364	NM_000137.4(FAH):c.606+1G>T	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 188755	NM_000137.4(FAH):c.607-1G>A	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 3241523	NM_000137.4(FAH):c.608del (p.Ala203fs)	FAH (A203fs)	Deletion (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 937956	NM_000137.4(FAH):c.615dup (p.Val206fs)	FAH (V206fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675361	NM_000137.4(FAH):c.616del (p.Phe205_Val206insTer)	FAH	Deletion (nonsense)	Tyrosinemia type I	GLikely pathogenic
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 1031417	NM_000137.4(FAH):c.692T>C (p.Met231Thr)	FAH (M231T)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 551686	NM_000137.4(FAH):c.696C>T (p.Asn232=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 21057	NM_000137.4(FAH):c.698A>T (p.Asp233Val)	FAH (D233V)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic
Select item 2054966	NM_000137.4(FAH):c.701G>A (p.Trp234Ter)	FAH (W234*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 1074367	NM_000137.4(FAH):c.702G>A (p.Trp234Ter)	FAH (W234*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 550532	NM_000137.4(FAH):c.706+2T>G	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 928612	NM_000137.4(FAH):c.707-1G>C	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GPathogenic
Select item 558607	NM_000137.4(FAH):c.707-1G>A	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GPathogenic
Select item 437463	NM_000137.4(FAH):c.709C>T (p.Arg237Ter)	FAH (R237*)	Single nucleotide variant (nonsense)	Tyrosinemia type I +1 more	GPathogenic
Select item 2675347	NM_000137.4(FAH):c.718C>T (p.Gln240Ter)	FAH (Q240*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GPathogenic
Select item 813490	NM_000137.4(FAH):c.726G>A (p.Trp242Ter)	FAH (W242*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 570041	NM_000137.4(FAH):c.742G>A (p.Gly248Arg)	FAH (G248R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 370275	NM_000137.4(FAH):c.744del (p.Pro249fs)	FAH (P249fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 2137735	NM_000137.4(FAH):c.745C>A (p.Pro249Thr)	FAH (P249T)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
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 2675353	NM_000137.4(FAH):c.785G>A (p.Trp262Ter)	FAH (W262*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GPathogenic
Select item 11873	NM_000137.4(FAH):c.786G>A (p.Trp262Ter)	FAH (W262*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GPathogenic
Select item 2675350	NM_000137.4(FAH):c.806_807dup (p.Met270fs)	FAH (M270fs)	Microsatellite (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 11875	NM_000137.4(FAH):c.836A>G (p.Gln279Arg)	FAH (Q279R)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 2675366	NM_000137.4(FAH):c.838-2A>G	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2675357	NM_000137.4(FAH):c.879C>A (p.Tyr293Ter)	FAH (Y293*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 813491	NM_000137.4(FAH):c.880A>C (p.Thr294Pro)	FAH (T294P)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GConflicting classifications of pathogenicity
Select item 2675365	NM_000137.4(FAH):c.914-2A>T	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GPathogenic
Select item 3241521	NM_000137.4(FAH):c.940_943dup (p.Cys315fs)	FAH (C315fs)	Microsatellite (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2675360	NM_000137.4(FAH):c.961-2A>G	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 557017	NM_000137.4(FAH):c.961-2A>C	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GLikely pathogenic
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 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 3241518	NM_000137.4(FAH):c.978_982delinsAGGGAAA (p.Met326fs)	FAH (M326fs)	Indel (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 813492	NM_000137.4(FAH):c.982C>T (p.Gln328Ter)	FAH (Q328*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GPathogenic
Select item 2675362	NM_000137.4(FAH):c.1001_1002del (p.Ser334fs)	FAH (S334fs)	Microsatellite (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 11869	NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)	FAH (G337S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 945086	NM_000137.4(FAH):c.1025dup (p.Asp344fs)	FAH (D344fs)	Duplication (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
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 945587	NM_000137.4(FAH):c.1030del (p.Asp344fs)	FAH (D344fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic
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 2675349	NM_000137.4(FAH):c.1028G>A (p.Gly343Glu)	FAH (G343E)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely pathogenic
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 3241520	NM_000137.4(FAH):c.1063-3_1063-1del	FAH	Deletion (splice acceptor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 11871	NM_000137.4(FAH):c.1069G>T (p.Glu357Ter)	FAH (E357*)	Single nucleotide variant (nonsense)	Tyrosinemia type I +2 more	GPathogenic
Select item 2675346	NM_000137.4(FAH):c.1090G>C (p.Glu364Gln)	FAH (E364Q)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely pathogenic
Select item 11867	NM_000137.4(FAH):c.1090G>T (p.Glu364Ter)	FAH (E364*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2051160	NM_000137.4(FAH):c.1097_1099del (p.Ser366del)	FAH (S366del)	Deletion (inframe_deletion)	Tyrosinemia type I	GConflicting classifications of pathogenicity
Select item 11872	NM_000137.4(FAH):c.1141A>G (p.Arg381Gly)	FAH (R381G)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic
Select item 813493	NM_000137.4(FAH):c.1180+1G>A	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GPathogenic
Select item 2675363	NM_000137.4(FAH):c.1194_1195dup (p.Asp399fs)	FAH (D399fs)	Duplication (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 188907	NM_000137.4(FAH):c.1190del (p.Gln397fs)	FAH (Q397fs)	Deletion (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2501041	NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)	FAH (Y401*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 459903	NM_000137.4(FAH):c.1210G>A (p.Gly404Ser)	FAH (G404S)	Single nucleotide variant (missense variant)	Tyrosinemia type I +1 more	GPathogenic/Likely pathogenic
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

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Items: 89