ClinVar for MedGen (Select 75688) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25038861.	NM_000137.4(FAH):c.572_577delinsTCCAA (p.Gly191fs) GRCh37: Chr15:80460624-80460629 GRCh38: Chr15:80168282-80168287	FAH	G191fs	Tyrosinemia type I	Likely pathogenic (Apr 11, 2023)	criteria provided, single submitter
Select item 25010412.	NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter) GRCh37: Chr15:80478494 GRCh38: Chr15:80186152	FAH	Y401*	Tyrosinemia type I	Likely pathogenic (Mar 18, 2023)	criteria provided, single submitter
Select item 24443263.	NM_000137.4(FAH):c.740T>G (p.Leu247Arg) GRCh37: Chr15:80465389 GRCh38: Chr15:80173047	FAH	L247R	Tyrosinemia type I	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24413344.	NM_000137.4(FAH):c.991A>G (p.Thr331Ala) GRCh37: Chr15:80472496 GRCh38: Chr15:80180154	FAH	T331A	Tyrosinemia type I	Uncertain significance (Oct 1, 2020)	criteria provided, single submitter
Select item 24413335.	NM_000137.4(FAH):c.847C>A (p.Pro283Thr) GRCh37: Chr15:80467367 GRCh38: Chr15:80175025	FAH	P283T	Tyrosinemia type I	Uncertain significance (Aug 12, 2020)	criteria provided, single submitter
Select item 24413326.	NM_000137.4(FAH):c.485G>A (p.Arg162His) GRCh37: Chr15:80460423 GRCh38: Chr15:80168081	FAH	R162H	Tyrosinemia type I	Uncertain significance (Nov 8, 2022)	criteria provided, single submitter
Select item 24254937.	NM_000137.4(FAH):c.268T>A (p.Ser90Thr) GRCh37: Chr15:80452173 GRCh38: Chr15:80159831	FAH	S90T	Tyrosinemia type I	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 24224378.	NC_000015.9:g.(?_80465346)_(80465496_?)del GRCh37: Chr15:80465346-80465496	FAH		Tyrosinemia type I	Pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 24220399.	NM_000137.4(FAH):c.365-9C>T GRCh37: Chr15:80454579 GRCh38: Chr15:80162237	FAH		Tyrosinemia type I	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 241387410.	NM_000137.4(FAH):c.502G>A (p.Val168Met) GRCh37: Chr15:80460440 GRCh38: Chr15:80168098	FAH	V168M	Tyrosinemia type I	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 241356511.	NM_000137.4(FAH):c.455+3A>T GRCh37: Chr15:80454681 GRCh38: Chr15:80162339	FAH		Tyrosinemia type I	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 219639612.	NM_000137.4(FAH):c.837G>A (p.Gln279=) GRCh37: Chr15:80465486 GRCh38: Chr15:80173144	FAH		Tyrosinemia type I	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 218862813.	NM_000137.4(FAH):c.1181-10T>C GRCh37: Chr15:80478462 GRCh38: Chr15:80186120	FAH		Tyrosinemia type I	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 218620414.	NM_000137.4(FAH):c.866A>G (p.His289Arg) GRCh37: Chr15:80467386 GRCh38: Chr15:80175044	FAH	H289R	Tyrosinemia type I	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 218495015.	NM_000137.4(FAH):c.395A>G (p.Gln132Arg) GRCh37: Chr15:80454618 GRCh38: Chr15:80162276	FAH	Q132R	Tyrosinemia type I	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 218324816.	NM_000137.4(FAH):c.1013G>A (p.Cys338Tyr) GRCh37: Chr15:80472518 GRCh38: Chr15:80180176	FAH	C338Y	Tyrosinemia type I	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 218189917.	NM_000137.4(FAH):c.496G>C (p.Val166Leu) GRCh37: Chr15:80460434 GRCh38: Chr15:80168092	FAH	V166L	Tyrosinemia type I	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 218101918.	NM_000137.4(FAH):c.827A>G (p.Asn276Ser) GRCh37: Chr15:80465476 GRCh38: Chr15:80173134	FAH	N276S	Tyrosinemia type I	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 217762419.	NM_000137.4(FAH):c.79G>C (p.Asp27His) GRCh37: Chr15:80445475 GRCh38: Chr15:80153133	FAH	D27H	Tyrosinemia type I	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 217574520.	NM_000137.4(FAH):c.1098G>T (p.Ser366=) GRCh37: Chr15:80473419 GRCh38: Chr15:80181077	FAH		Tyrosinemia type I	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 217071721.	NM_000137.4(FAH):c.59G>A (p.Gly20Asp) GRCh37: Chr15:80445455 GRCh38: Chr15:80153113	FAH	G20D	Tyrosinemia type I	Uncertain significance (Jul 10, 2022)	criteria provided, single submitter
Select item 216907222.	NM_000137.4(FAH):c.845G>A (p.Arg282Lys) GRCh37: Chr15:80467365 GRCh38: Chr15:80175023	FAH	R282K	Tyrosinemia type I	Uncertain significance (Sep 8, 2021)	criteria provided, single submitter
Select item 216609323.	NM_000137.4(FAH):c.953A>G (p.Asn318Ser) GRCh37: Chr15:80469918 GRCh38: Chr15:80177576	FAH	N318S	Tyrosinemia type I	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 216471324.	NM_000137.4(FAH):c.315-9G>C GRCh37: Chr15:80452743 GRCh38: Chr15:80160401	FAH, LOC112272621		Tyrosinemia type I	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 216302925.	NM_000137.4(FAH):c.820G>C (p.Val274Leu) GRCh37: Chr15:80465469 GRCh38: Chr15:80173127	FAH	V274L	Tyrosinemia type I	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 216277826.	NM_000137.4(FAH):c.307C>T (p.Arg103Trp) GRCh37: Chr15:80452212 GRCh38: Chr15:80159870	FAH	R103W	Tyrosinemia type I	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 216258027.	NM_000137.4(FAH):c.778T>A (p.Ser260Thr) GRCh37: Chr15:80465427 GRCh38: Chr15:80173085	FAH	S260T	Inborn genetic diseases, Tyrosinemia type I	Uncertain significance (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216194328.	NM_000137.4(FAH):c.960+5G>A GRCh37: Chr15:80469930 GRCh38: Chr15:80177588	FAH		Tyrosinemia type I	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 216088729.	NM_000137.4(FAH):c.1180+7G>T GRCh37: Chr15:80473508 GRCh38: Chr15:80181166	FAH		Tyrosinemia type I	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 214809930.	NM_000137.4(FAH):c.633A>T (p.Arg211Ser) GRCh37: Chr15:80464517 GRCh38: Chr15:80172175	FAH	R211S	Tyrosinemia type I	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 214561831.	NM_000137.4(FAH):c.830C>T (p.Pro277Leu) GRCh37: Chr15:80465479 GRCh38: Chr15:80173137	FAH	P277L	Tyrosinemia type I	Uncertain significance (Oct 11, 2021)	criteria provided, single submitter
Select item 213773632.	NM_000137.4(FAH):c.1124T>C (p.Leu375Pro) GRCh37: Chr15:80473445 GRCh38: Chr15:80181103	FAH	L375P	Tyrosinemia type I	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 213773533.	NM_000137.4(FAH):c.745C>A (p.Pro249Thr) GRCh37: Chr15:80465394 GRCh38: Chr15:80173052	FAH	P249T	Tyrosinemia type I	Pathogenic (Jun 4, 2022)	criteria provided, single submitter
Select item 212879634.	NM_000137.4(FAH):c.365-5T>C GRCh37: Chr15:80454583 GRCh38: Chr15:80162241	FAH		Tyrosinemia type I	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 212874035.	NM_000137.4(FAH):c.1059G>A (p.Gly353=) GRCh37: Chr15:80472564 GRCh38: Chr15:80180222	FAH		Tyrosinemia type I	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 212771236.	NM_000137.4(FAH):c.82-4C>T GRCh37: Chr15:80450398 GRCh38: Chr15:80158056	FAH		Tyrosinemia type I	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 212543637.	NM_000137.4(FAH):c.462C>T (p.His154=) GRCh37: Chr15:80460400 GRCh38: Chr15:80168058	FAH		Tyrosinemia type I	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 212321838.	NM_000137.4(FAH):c.553+2del GRCh37: Chr15:80460493 GRCh38: Chr15:80168151	FAH		Tyrosinemia type I	Likely pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 211979739.	NM_000137.4(FAH):c.1134T>G (p.Gly378=) GRCh37: Chr15:80473455 GRCh38: Chr15:80181113	FAH		Tyrosinemia type I	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 211361040.	NM_000137.4(FAH):c.189T>C (p.Asn63=) GRCh37: Chr15:80450509 GRCh38: Chr15:80158167	FAH		Tyrosinemia type I	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 211178541.	NM_000137.4(FAH):c.369C>A (p.Asp123Glu) GRCh37: Chr15:80454592 GRCh38: Chr15:80162250	FAH	D123E	Tyrosinemia type I	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 210887442.	NM_000137.4(FAH):c.52C>G (p.Pro18Ala) GRCh37: Chr15:80445448 GRCh38: Chr15:80153106	FAH	P18A	Tyrosinemia type I	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210091043.	NM_000137.4(FAH):c.456-4T>G GRCh37: Chr15:80460390 GRCh38: Chr15:80168048	FAH		Tyrosinemia type I	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 209932144.	NM_000137.4(FAH):c.396G>A (p.Gln132=) GRCh37: Chr15:80454619 GRCh38: Chr15:80162277	FAH		Tyrosinemia type I	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 209898545.	NM_000137.4(FAH):c.315-7G>A GRCh37: Chr15:80452745 GRCh38: Chr15:80160403	FAH, LOC112272621		Tyrosinemia type I	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 209454746.	NM_000137.4(FAH):c.455+6_455+10del GRCh37: Chr15:80454682-80454686 GRCh38: Chr15:80162340-80162344	FAH		Tyrosinemia type I	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 209324547.	NM_000137.4(FAH):c.707-8T>G GRCh37: Chr15:80465348 GRCh38: Chr15:80173006	FAH		Tyrosinemia type I	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 209109548.	NM_000137.4(FAH):c.402T>G (p.Ala134=) GRCh37: Chr15:80454625 GRCh38: Chr15:80162283	FAH		Tyrosinemia type I	Likely benign (Jan 29, 2022)	criteria provided, single submitter
Select item 209074449.	NM_000137.4(FAH):c.838-10G>T GRCh37: Chr15:80467348 GRCh38: Chr15:80175006	FAH		Tyrosinemia type I	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 208941850.	NM_000137.4(FAH):c.318A>C (p.Ala106=) GRCh37: Chr15:80452755 GRCh38: Chr15:80160413	FAH, LOC112272621		Tyrosinemia type I	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 208697651.	NM_000137.4(FAH):c.735C>G (p.Val245=) GRCh37: Chr15:80465384 GRCh38: Chr15:80173042	FAH		Tyrosinemia type I	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 208224852.	NM_000137.4(FAH):c.1003G>A (p.Val335Ile) GRCh37: Chr15:80472508 GRCh38: Chr15:80180166	FAH	V335I	Tyrosinemia type I	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 206945053.	NM_000137.4(FAH):c.348C>T (p.His116=) GRCh37: Chr15:80452785 GRCh38: Chr15:80160443	FAH, LOC112272621		Tyrosinemia type I	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 206929454.	NM_000137.4(FAH):c.580A>G (p.Lys194Glu) GRCh37: Chr15:80460632 GRCh38: Chr15:80168290	FAH	K194E	Inborn genetic diseases, Tyrosinemia type I	Uncertain significance (Dec 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205496655.	NM_000137.4(FAH):c.701G>A (p.Trp234Ter) GRCh37: Chr15:80464585 GRCh38: Chr15:80172243	FAH	W234*	Tyrosinemia type I	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 205116056.	NM_000137.4(FAH):c.1097_1099del (p.Ser366del) GRCh37: Chr15:80473416-80473418 GRCh38: Chr15:80181074-80181076	FAH	S366del	Tyrosinemia type I	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 204797957.	NM_000137.4(FAH):c.913+14G>A GRCh37: Chr15:80467447 GRCh38: Chr15:80175105	FAH		Tyrosinemia type I	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 204734358.	NM_000137.4(FAH):c.1181G>A (p.Gly394Glu) GRCh37: Chr15:80478472 GRCh38: Chr15:80186130	FAH	G394E	Tyrosinemia type I	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 204600459.	NM_000137.4(FAH):c.192+17C>T GRCh37: Chr15:80450529 GRCh38: Chr15:80158187	FAH		Tyrosinemia type I	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 203513360.	NM_000137.4(FAH):c.1221G>A (p.Gln407=) GRCh37: Chr15:80478512 GRCh38: Chr15:80186170	FAH		Tyrosinemia type I	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 203508461.	NM_000137.4(FAH):c.1164T>C (p.Asp388=) GRCh37: Chr15:80473485 GRCh38: Chr15:80181143	FAH		Tyrosinemia type I	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 203503762.	NM_000137.4(FAH):c.1180+9T>G GRCh37: Chr15:80473510 GRCh38: Chr15:80181168	FAH		Tyrosinemia type I	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 202562063.	NM_000137.4(FAH):c.807C>T (p.Leu269=) GRCh37: Chr15:80465456 GRCh38: Chr15:80173114	FAH		Tyrosinemia type I	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 202090664.	NM_000137.4(FAH):c.1180+10G>T GRCh37: Chr15:80473511 GRCh38: Chr15:80181169	FAH		Tyrosinemia type I	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 201680465.	NM_000137.4(FAH):c.576C>A (p.Ala192=) GRCh37: Chr15:80460628 GRCh38: Chr15:80168286	FAH		Tyrosinemia type I	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 201450066.	NM_000137.4(FAH):c.1080C>T (p.Gly360=) GRCh37: Chr15:80473401 GRCh38: Chr15:80181059	FAH		Tyrosinemia type I	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 199625167.	NM_000137.4(FAH):c.963C>G (p.Tyr321Ter) GRCh37: Chr15:80472468 GRCh38: Chr15:80180126	FAH	Y321*	Tyrosinemia type I	Pathogenic (May 19, 2022)	criteria provided, single submitter
Select item 199380968.	NM_000137.4(FAH):c.704G>A (p.Ser235Asn) GRCh37: Chr15:80464588 GRCh38: Chr15:80172246	FAH	S235N	Tyrosinemia type I	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 198372369.	NM_000137.4(FAH):c.455+18T>C GRCh37: Chr15:80454696 GRCh38: Chr15:80162354	FAH		Tyrosinemia type I	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 198164770.	NM_000137.4(FAH):c.348C>A (p.His116Gln) GRCh37: Chr15:80452785 GRCh38: Chr15:80160443	FAH, LOC112272621	H116Q	Tyrosinemia type I	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 197439171.	NM_000137.4(FAH):c.365-2A>G GRCh37: Chr15:80454586 GRCh38: Chr15:80162244	FAH		Tyrosinemia type I	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 197177372.	NM_000137.4(FAH):c.129C>T (p.Leu43=) GRCh37: Chr15:80450449 GRCh38: Chr15:80158107	FAH		Tyrosinemia type I	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 195596173.	NM_000137.4(FAH):c.87A>G (p.Arg29=) GRCh37: Chr15:80450407 GRCh38: Chr15:80158065	FAH		Tyrosinemia type I	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 195315074.	NM_000137.4(FAH):c.81+9T>A GRCh37: Chr15:80445486 GRCh38: Chr15:80153144	FAH		Tyrosinemia type I	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 195194275.	NM_000137.4(FAH):c.224A>G (p.Gln75Arg) GRCh37: Chr15:80452129 GRCh38: Chr15:80159787	FAH	Q75R	Tyrosinemia type I	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 195117976.	NM_000137.4(FAH):c.837+5G>A GRCh37: Chr15:80465491 GRCh38: Chr15:80173149	FAH		Tyrosinemia type I	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 194997677.	NM_000137.4(FAH):c.21C>T (p.Ala7=) GRCh37: Chr15:80445417 GRCh38: Chr15:80153075	FAH		Tyrosinemia type I	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 194758478.	NM_000137.4(FAH):c.669G>A (p.Glu223=) GRCh37: Chr15:80464553 GRCh38: Chr15:80172211	FAH		Tyrosinemia type I	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 192851879.	NM_000137.4(FAH):c.72_81dup (p.Pro28fs) GRCh37: Chr15:80445463-80445464 GRCh38: Chr15:80153121-80153122	FAH	P28fs	Tyrosinemia type I	Pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 192785080.	NM_000137.4(FAH):c.554-17_554-16insA GRCh37: Chr15:80460589-80460590 GRCh38: Chr15:80168247-80168248	FAH		Tyrosinemia type I	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 192743281.	NM_000137.4(FAH):c.364+10G>C GRCh37: Chr15:80452811 GRCh38: Chr15:80160469	FAH, LOC112272621		Tyrosinemia type I	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 192677482.	NM_000137.4(FAH):c.1014del (p.Gly337_Cys338insTer) GRCh37: Chr15:80472519 GRCh38: Chr15:80180177	FAH		Tyrosinemia type I	Pathogenic (Oct 6, 2022)	criteria provided, single submitter
Select item 191480183.	NM_000137.4(FAH):c.914-7C>T GRCh37: Chr15:80469872 GRCh38: Chr15:80177530	FAH		Tyrosinemia type I	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 191448484.	NM_000137.4(FAH):c.961-13C>T GRCh37: Chr15:80472453 GRCh38: Chr15:80180111	FAH		Tyrosinemia type I	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 191223885.	NM_000137.4(FAH):c.913+8G>T GRCh37: Chr15:80467441 GRCh38: Chr15:80175099	FAH		Tyrosinemia type I	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 189636486.	NM_000137.4(FAH):c.529A>G (p.Met177Val) GRCh37: Chr15:80460467 GRCh38: Chr15:80168125	FAH	M177V	Tyrosinemia type I	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 172643287.	NM_000137.4(FAH):c.244A>T (p.Arg82Ter) GRCh37: Chr15:80452149 GRCh38: Chr15:80159807	FAH	R82*	Tyrosinemia type I	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172521488.	NM_000137.4(FAH):c.580A>T (p.Lys194Ter) GRCh37: Chr15:80460632 GRCh38: Chr15:80168290	FAH	K194*	Tyrosinemia type I	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 170559089.	NM_000137.4(FAH):c.221_238del (p.Gly74_Lys79del) GRCh37: Chr15:80452124-80452141 GRCh38: Chr15:80159782-80159799	FAH		Tyrosinemia type I	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 168580790.	NM_000137.4(FAH):c.61G>T (p.Val21Phe) GRCh37: Chr15:80445457 GRCh38: Chr15:80153115	FAH	V21F	Tyrosinemia type I	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167224691.	NM_000137.4(FAH):c.914-10T>C GRCh37: Chr15:80469869 GRCh38: Chr15:80177527	FAH		Tyrosinemia type I	Likely benign (Jan 17, 2021)	criteria provided, single submitter
Select item 167143692.	NM_000137.4(FAH):c.553+7G>A GRCh37: Chr15:80460498 GRCh38: Chr15:80168156	FAH		Tyrosinemia type I	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 166923393.	NM_000137.4(FAH):c.1119A>C (p.Ile373=) GRCh37: Chr15:80473440 GRCh38: Chr15:80181098	FAH		Tyrosinemia type I	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 166423694.	NM_000137.4(FAH):c.253T>C (p.Leu85=) GRCh37: Chr15:80452158 GRCh38: Chr15:80159816	FAH		Tyrosinemia type I	Likely benign (Dec 22, 2020)	criteria provided, single submitter
Select item 166111095.	NM_000137.4(FAH):c.309G>A (p.Arg103=) GRCh37: Chr15:80452214 GRCh38: Chr15:80159872	FAH		Tyrosinemia type I	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 165999496.	NM_000137.4(FAH):c.498C>T (p.Val166=) GRCh37: Chr15:80460436 GRCh38: Chr15:80168094	FAH		Tyrosinemia type I	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 165947497.	NM_000137.4(FAH):c.1122C>T (p.Asp374=) GRCh37: Chr15:80473443 GRCh38: Chr15:80181101	FAH		Tyrosinemia type I	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 165791598.	NM_000137.4(FAH):c.1161G>A (p.Gly387=) GRCh37: Chr15:80473482 GRCh38: Chr15:80181140	FAH		Tyrosinemia type I	Likely benign (Oct 3, 2021)	criteria provided, single submitter
Select item 165332399.	NM_000137.4(FAH):c.192+10T>C GRCh37: Chr15:80450522 GRCh38: Chr15:80158180	FAH		Tyrosinemia type I	Likely benign (Apr 26, 2021)	criteria provided, single submitter
Select item 1651885100.	NM_000137.4(FAH):c.365-4G>A GRCh37: Chr15:80454584 GRCh38: Chr15:80162242	FAH		Tyrosinemia type I	Likely benign (Jun 29, 2022)	criteria provided, single submitter

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