ClinVar for MedGen (Select 75688) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3019556	NM_000137.4(FAH):c.365-15G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 3018778	NM_000137.4(FAH):c.525G>A (p.Arg175=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 3018409	NM_000137.4(FAH):c.837+13T>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 3018338	NM_000137.4(FAH):c.1062+16C>T	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 3018167	NM_000137.4(FAH):c.606+11T>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 3018029	NM_000137.4(FAH):c.827A>T (p.Asn276Ile)	FAH (N276I)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
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 3016942	NM_000137.4(FAH):c.606+11T>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 3014449	NM_000137.4(FAH):c.193-15_193-14del	FAH	Deletion (intron variant)	Tyrosinemia type I	GLikely benign
Select item 3011826	NM_000137.4(FAH):c.365-9C>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 3010215	NM_000137.4(FAH):c.102G>A (p.Val34=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 3009398	NM_000137.4(FAH):c.554-15dup	FAH	Duplication (intron variant)	Tyrosinemia type I	GLikely benign
Select item 3009227	NM_000137.4(FAH):c.607-8C>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 3005037	NM_000137.4(FAH):c.1062+11G>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 3002286	NM_000137.4(FAH):c.706+1G>A	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2998364	NM_000137.4(FAH):c.1033del (p.Leu345fs)	FAH (L345fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic
Select item 2997550	NM_000137.4(FAH):c.747A>C (p.Pro249=)	FAH	Single nucleotide variant (synonymous 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 2995470	NM_000137.4(FAH):c.455+10G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2992401	NM_000137.4(FAH):c.120C>T (p.Ile40=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2989749	NM_000137.4(FAH):c.365-12T>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2988118	NM_000137.4(FAH):c.15G>A (p.Pro5=)	FAH	Single nucleotide variant (synonymous 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 2983752	NM_000137.4(FAH):c.162C>T (p.Val54=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2977400	NM_000137.4(FAH):c.314+12G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2969974	NM_000137.4(FAH):c.913+15G>T	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2969927	NM_000137.4(FAH):c.961-11A>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2966896	NM_000137.4(FAH):c.554-12G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2965443	NM_000137.4(FAH):c.768G>C (p.Gly256=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2963252	NM_000137.4(FAH):c.709C>A (p.Arg237=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2919965	NM_000137.4(FAH):c.607-20T>A	FAH	Single nucleotide variant (intron 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 2918622	NM_000137.4(FAH):c.165C>G (p.Leu55=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2917138	NM_000137.4(FAH):c.1063-12C>T	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2915819	NM_000137.4(FAH):c.553+11G>T	FAH	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 2912445	NM_000137.4(FAH):c.558G>A (p.Lys186=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2912394	NM_000137.4(FAH):c.553+16G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2912355	NM_000137.4(FAH):c.607-18A>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2912304	NM_000137.4(FAH):c.706+20T>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2910382	NM_000137.4(FAH):c.553+1G>A	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2910017	NM_000137.4(FAH):c.706+16C>T	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2909958	NM_000137.4(FAH):c.553+16G>T	FAH	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 2908495	NM_000137.4(FAH):c.314+18A>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2908161	NM_000137.4(FAH):c.838-15G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2904357	NM_000137.4(FAH):c.455+12G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2903579	NM_000137.4(FAH):c.1036C>T (p.Leu346=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2900917	NM_000137.4(FAH):c.838-9C>T	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2900150	NM_000137.4(FAH):c.192+19A>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2899101	NM_000137.4(FAH):c.1062+18C>T	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2893585	NM_000137.4(FAH):c.192+13G>T	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2893542	NM_000137.4(FAH):c.553+11G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2893399	NM_000137.4(FAH):c.913+13G>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2893092	NM_000137.4(FAH):c.314+14G>T	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2892276	NM_000137.4(FAH):c.82-16G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2891450	NM_000137.4(FAH):c.456-14C>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2889736	NM_000137.4(FAH):c.207C>T (p.Ser69=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2886973	NM_000137.4(FAH):c.314+11C>T	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2880127	NM_000137.4(FAH):c.981G>A (p.Leu327=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2877281	NM_000137.4(FAH):c.307C>A (p.Arg103=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2867939	NM_000137.4(FAH):c.1018C>T (p.Leu340=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2867217	NM_000137.4(FAH):c.554-16T>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2865781	NM_000137.4(FAH):c.456-10C>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2864871	NM_000137.4(FAH):c.707-10T>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2854890	NM_000137.4(FAH):c.808dup (p.Met270fs)	FAH (M270fs)	Duplication (frameshift variant)	Tyrosinemia type I	GPathogenic
Select item 2853671	NM_000137.4(FAH):c.258G>A (p.Gln86=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2852409	NM_000137.4(FAH):c.1180+18C>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2850141	NM_000137.4(FAH):c.82-5_82-3del	FAH	Microsatellite (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2848048	NM_000137.4(FAH):c.913+17C>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2848000	NM_000137.4(FAH):c.566_606+62del	FAH	Deletion (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2846517	NM_000137.4(FAH):c.81+17T>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2845214	NM_000137.4(FAH):c.582G>A (p.Lys194=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2843250	NM_000137.4(FAH):c.1209C>A (p.Ile403=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2842691	NM_000137.4(FAH):c.382_383insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCCTGACCTCGTGAACCGCCCGCCTCGCCGTCCGAACGAGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTACACAGACTTCT (p.Tyr128delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuLeuThrSerTer)	FAH	Insertion (nonsense)	Tyrosinemia type I	GPathogenic
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 2841693	NM_000137.4(FAH):c.707-13C>T	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2840291	NM_000137.4(FAH):c.81+16T>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2839356	NM_000137.4(FAH):c.82-1G>C	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2837703	NM_000137.4(FAH):c.365-11T>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2837702	NM_000137.4(FAH):c.365-10del	FAH	Deletion (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2837301	NM_000137.4(FAH):c.837+18A>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2835198	NM_000137.4(FAH):c.1063-10T>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2833957	NM_000137.4(FAH):c.128T>C (p.Leu43Pro)	FAH (L43P)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 2830125	NM_000137.4(FAH):c.825C>G (p.Pro275=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2827651	NM_000137.4(FAH):c.1182G>C (p.Gly394=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2826475	NM_000137.4(FAH):c.894C>T (p.Asn298=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2823563	NM_000137.4(FAH):c.1087T>C (p.Leu363=)	FAH	Single nucleotide variant (synonymous 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 2816994	NM_000137.4(FAH):c.606+17T>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2811930	NM_000137.4(FAH):c.34T>C (p.Phe12Leu)	FAH (F12L)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2808703	NM_000137.4(FAH):c.961-18C>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2806751	NM_000137.4(FAH):c.707-12C>T	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2805766	NM_000137.4(FAH):c.365-18T>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2802948	NM_000137.4(FAH):c.913+16A>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2798231	NM_000137.4(FAH):c.549T>C (p.Asp183=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2797613	NM_000137.4(FAH):c.132C>T (p.Ser44=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign

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