Related gene-specific medical variations for Gene (Select 2184) - ClinVar

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Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243760	NC_000015.9:g.(?_80445385)_(80450748_?)del	FAH	Deletion	Tyrosinemia type I	GPathogenic
Select item 3243758	NC_000015.9:g.(?_80450382)_(80467453_?)dup	FAH	Duplication	Tyrosinemia type I	GLikely pathogenic
Select item 3243757	NC_000015.9:g.(?_80452078)_(80460678_?)del	FAH	Deletion	Tyrosinemia type I	GPathogenic
Select item 3243756	NC_000015.9:g.(?_80445397)_(80460678_?)del	FAH	Deletion	Tyrosinemia type I	GPathogenic
Select item 3241523	NM_000137.4(FAH):c.608del (p.Ala203fs)	FAH (A203fs)	Deletion (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
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 3241521	NM_000137.4(FAH):c.940_943dup (p.Cys315fs)	FAH (C315fs)	Microsatellite (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 3241520	NM_000137.4(FAH):c.1063-3_1063-1del	FAH	Deletion (splice acceptor variant)	Tyrosinemia type I	GLikely 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 3241517	NM_000137.4(FAH):c.192+1G>A	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 3065539	NM_000137.4(FAH):c.36C>A (p.Phe12Leu)	FAH (F12L)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely pathogenic
Select item 3064457	NM_000137.4(FAH):c.266del (p.Leu89fs)	FAH (L89fs)	Deletion (frameshift variant)	Tyrosinemia type I	GUncertain significance
Select item 3051748	NM_000137.4(FAH):c.360C>T (p.Thr120=)	FAH, LOC112272621	Single nucleotide variant (synonymous variant)	FAH-related disorder	GLikely benign
Select item 3018014	NM_000137.4(FAH):c.364+12C>T	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2997001	NM_000137.4(FAH):c.364+9A>G	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2987888	NM_000137.4(FAH):c.364+15T>C	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2983970	NM_000137.4(FAH):c.336T>A (p.Ser112=)	FAH, LOC112272621	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2918904	NM_000137.4(FAH):c.364+19C>T	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2913896	NM_000137.4(FAH):c.315-11C>T	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2908908	NM_000137.4(FAH):c.315-13T>A	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2842385	NM_000137.4(FAH):c.364+7G>T	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2823075	NM_000137.4(FAH):c.315-12T>G	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2762528	NM_000137.4(FAH):c.364+19C>G	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2751526	NM_000137.4(FAH):c.325del (p.Ser109fs)	FAH, LOC112272621 (S109fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic
Select item 2746243	NM_000137.4(FAH):c.315-12T>C	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2693543	NM_000137.4(FAH):c.364+18A>T	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2693529	NM_000137.4(FAH):c.342G>C (p.Thr114=)	LOC112272621, FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
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 2675366	NM_000137.4(FAH):c.838-2A>G	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2675365	NM_000137.4(FAH):c.914-2A>T	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GPathogenic
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 2675363	NM_000137.4(FAH):c.1194_1195dup (p.Asp399fs)	FAH (D399fs)	Duplication (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2675362	NM_000137.4(FAH):c.1001_1002del (p.Ser334fs)	FAH (S334fs)	Microsatellite (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2675361	NM_000137.4(FAH):c.616del (p.Phe205_Val206insTer)	FAH	Deletion (nonsense)	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 2675359	NM_000137.4(FAH):c.115dup (p.Gln39fs)	FAH (Q39fs)	Duplication (frameshift variant)	Tyrosinemia type I	GLikely 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 2675355	NM_000137.4(FAH):c.553+5G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely 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 2675353	NM_000137.4(FAH):c.785G>A (p.Trp262Ter)	FAH (W262*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GPathogenic
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 2675351	NM_000137.4(FAH):c.301G>T (p.Glu101Ter)	FAH (E101*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GLikely pathogenic
Select item 2675350	NM_000137.4(FAH):c.806_807dup (p.Met270fs)	FAH (M270fs)	Microsatellite (frameshift variant)	Tyrosinemia type I	GLikely 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 2675348	NM_000137.4(FAH):c.205del (p.Ser69fs)	FAH (S69fs)	Deletion (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2675347	NM_000137.4(FAH):c.718C>T (p.Gln240Ter)	FAH (Q240*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	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 2441334	NM_000137.4(FAH):c.991A>G (p.Thr331Ala)	FAH (T331A)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 2441333	NM_000137.4(FAH):c.847C>A (p.Pro283Thr)	FAH (P283T)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 2441332	NM_000137.4(FAH):c.485G>A (p.Arg162His)	FAH (R162H)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 2429395	NM_000137.4(FAH):c.81+1G>C	FAH	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2323698	NM_000137.4(FAH):c.347A>T (p.His116Leu)	FAH, LOC112272621 (H116L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2164713	NM_000137.4(FAH):c.315-9G>C	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2098985	NM_000137.4(FAH):c.315-7G>A	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2089418	NM_000137.4(FAH):c.318A>C (p.Ala106=)	FAH, LOC112272621	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2069450	NM_000137.4(FAH):c.348C>T (p.His116=)	FAH, LOC112272621	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 1981647	NM_000137.4(FAH):c.348C>A (p.His116Gln)	FAH, LOC112272621 (H116Q)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 1927432	NM_000137.4(FAH):c.364+10G>C	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 1322862	NM_000137.4(FAH):c.697del (p.Asp233fs)	FAH (D233fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic
Select item 1300235	NM_000137.4(FAH):c.103G>A (p.Ala35Thr)	FAH (A35T)	Single nucleotide variant (missense variant)	Tyrosinemia type I	Gnot provided
Select item 1299350	NM_000137.4(FAH):c.328C>T (p.Gln110Ter)	LOC112272621, FAH (Q110*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 1277870	NM_000137.4(FAH):c.315-181G>A	FAH, LOC112272621	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258417	NM_001374377.1(FAH):c.-89G>C	FAH, LOC130057734	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1250978	NM_000137.4(FAH):c.364+142G>T	FAH, LOC112272621	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210808	NM_001374377.1(FAH):c.-88G>T	FAH, LOC130057734	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely 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 1146529	NM_000137.4(FAH):c.342G>A (p.Thr114=)	FAH, LOC112272621	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 1127393	NM_000137.4(FAH):c.315-9G>A	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 1109392	NM_000137.4(FAH):c.357C>T (p.Ala119=)	FAH, LOC112272621	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 1068347	NM_000137.4(FAH):c.364+2T>C	FAH, LOC112272621	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 1054501	NM_000137.4(FAH):c.322A>G (p.Ile108Val)	FAH, LOC112272621 (I108V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 990307	NM_000137.4(FAH):c.*1G>A	FAH	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type I	GUncertain significance
Select item 990306	NM_000137.4(FAH):c.1196A>C (p.Asp399Ala)	FAH (D399A)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 990303	NM_000137.4(FAH):c.607G>A (p.Ala203Thr)	FAH (A203T)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 990302	NM_000137.4(FAH):c.607-10C>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GUncertain significance
Select item 990301	NM_000137.4(FAH):c.553+8A>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GUncertain significance
Select item 990300	NM_000137.4(FAH):c.452A>G (p.Asn151Ser)	FAH (N151S)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 990299	NM_000137.4(FAH):c.341C>T (p.Thr114Met)	FAH, LOC112272621 (T114M)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 966300	NM_000137.4(FAH):c.354del (p.Ala119fs)	FAH, LOC112272621 (A119fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic
Select item 934461	NM_000137.4(FAH):c.315-3C>G	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I	GPathogenic
Select item 887223	NM_000137.2(FAH):c.-159C>G	FAH, LOC130057734	Single nucleotide variant (5 prime UTR variant +1 more)	Tyrosinemia type I	GUncertain significance
Select item 828087	NM_000137.4(FAH):c.554-16del	FAH	Deletion (intron variant)	Tyrosinemia	GBenign
Select item 688473	GRCh37/hg19 15q25.1(chr15:80472308-80484049)x1	FAH	Copy number loss	not provided	GUncertain significance
Select item 659717	NM_000137.4(FAH):c.364+2T>G	FAH, LOC112272621	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
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 591914	NM_000137.4(FAH):c.816T>G (p.Phe272Leu)	FAH (F272L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 510535	NM_000137.4(FAH):c.315-18C>G	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I +1 more	GLikely benign
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 369102	NM_000137.4(FAH):c.-178G>A	FAH, LOC130057734	Single nucleotide variant (genic upstream transcript variant)	Hypertyrosinemia +1 more	GBenign/Likely benign
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 255277	NM_000137.4(FAH):c.*40C>T	FAH	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 255276	NM_000137.4(FAH):c.*38A>C	FAH	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 21057	NM_000137.4(FAH):c.698A>T (p.Asp233Val)	FAH (D233V)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic

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Items: 94