Total 114 pathogenic variants reported for Tyrosinemia type II 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000353.3(TAT):c.169C>T (p.Arg57Ter) SNV
Germline		 Chr16:71576247 Pathogenic/Likely pathogenic Tyrosinemia type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA114240 rs_118203914

5 SubmittersRCV000000429RCV000760433
NM_000353.3(TAT):c.668C>G (p.Ser223Ter) SNV
Germline		 Chr16:71572224 Pathogenic Tyrosinemia type II No Assertion Criteria Provided
 CA114242 rs_118203915

1 SubmittersRCV000000430
NM_000353.3(TAT):c.1249C>T (p.Arg417Ter) SNV
Germline		 Chr16:71568260 Pathogenic Tyrosinemia type II Criteria Provided
Multiple Submitters
No Conflicts
 CA114244 rs_118203916

4 SubmittersRCV000000431
NM_000353.3(TAT):c.236-5A>G SNV
Germline		 Chr16:71576031 Pathogenic Tyrosinemia type II No Assertion Criteria Provided
 CA114247 rs_587776512

1 SubmittersRCV000000433
NM_002150.3(HPD):c.479A>G (p.Tyr160Cys) SNV
Germline		 Chr12:121849726 Conflicting classifications of pathogenicity Tyrosinemia type III
Hawkinsinuria
Tyrosinemia type III
not specified		 Criteria Provided
Conflicting Classifications
 CA115056 rs_137852865

3 SubmittersRCV000001639RCV001297386RCV001731268
NM_002150.3(HPD):c.774T>G (p.Tyr258Ter) SNV
Germline		 Chr12:121846919 Pathogenic Tyrosinemia type III No Assertion Criteria Provided
 CA115059 rs_137852866

1 SubmittersRCV000001640
NM_002150.3(HPD):c.600C>G (p.Tyr200Ter) SNV
Germline		 Chr12:121847211 Pathogenic Tyrosinemia type III No Assertion Criteria Provided
 CA115062 rs_137852867

1 SubmittersRCV000001641
NM_002150.3(HPD):c.1005C>G (p.Ile335Met) SNV
Germline		 Chr12:121839998 Conflicting classifications of pathogenicity Tyrosinemia type III
Hawkinsinuria
Tyrosinemia type III
Hawkinsinuria
Condition: not provided
HPD-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA115065 rs_137852868

8 SubmittersRCV000001642RCV000386406RCV000953322RCV001091863RCV003964786RCV003488319
NM_000137.4(FAH):c.192G>T (p.Gln64His) SNV
Germline		 Chr15:80158170 Pathogenic/Likely pathogenic Tyrosinemia type I
Condition: not provided
T-substance anomaly
Tyrosinemia type II		 Criteria Provided
Multiple Submitters
No Conflicts
 CA233966 rs_80338894

11 SubmittersRCV000020126RCV000153218RCV003445079RCV004576910
NM_002150.3(HPD):c.954+14A>C SNV
Germline		 Chr12:121843696 Conflicting classifications of pathogenicity Hawkinsinuria
Tyrosinemia type III
Hawkinsinuria
Tyrosinemia type III		 Criteria Provided
Conflicting Classifications
 CA6839477 rs_200866898

2 SubmittersRCV000294352RCV000351642RCV002056272
NM_002150.3(HPD):c.895C>T (p.Leu299=) SNV
Germline		 Chr12:121843769 Conflicting classifications of pathogenicity Tyrosinemia type III
Hawkinsinuria
Tyrosinemia type III
Hawkinsinuria
HPD-related disorder		 Criteria Provided
Conflicting Classifications
 CA6839490 rs_144544907

3 SubmittersRCV000336439RCV000400660RCV002056273RCV003957595
NM_002150.3(HPD):c.765T>C (p.Tyr255=) SNV
Germline		 Chr12:121846928 Conflicting classifications of pathogenicity Hawkinsinuria
Tyrosinemia type III
Hawkinsinuria
Tyrosinemia type III		 Criteria Provided
Conflicting Classifications
 CA6839538 rs_767720774

2 SubmittersRCV000266360RCV000305079RCV003765806
NM_002150.3(HPD):c.294C>T (p.Phe98=) SNV
Germline		 Chr12:121856354 Conflicting classifications of pathogenicity Tyrosinemia type III
Hawkinsinuria
Hawkinsinuria
Tyrosinemia type III		 Criteria Provided
Conflicting Classifications
 CA6839727 rs_117079110

2 SubmittersRCV000296056RCV000388016RCV002056274
NM_002150.3(HPD):c.93+9C>T SNV
Germline		 Chr12:121857748 Conflicting classifications of pathogenicity Tyrosinemia type III
Hawkinsinuria
Hawkinsinuria
Tyrosinemia type III		 Criteria Provided
Conflicting Classifications
 CA6839842 rs_542121054

2 SubmittersRCV000290358RCV000395475RCV002520789
NM_000353.3(TAT):c.1042-12C>T SNV
Germline		 Chr16:71569949 Conflicting classifications of pathogenicity Tyrosinemia type II Criteria Provided
Conflicting Classifications
 CA8153818 rs_748571289

2 SubmittersRCV000313627
NM_002150.3(HPD):c.498G>A (p.Met166Ile) SNV
Germline		 Chr12:121849707 Conflicting classifications of pathogenicity Tyrosinemia type III
Hawkinsinuria
Hawkinsinuria
Tyrosinemia type III		 Criteria Provided
Conflicting Classifications
 CA6839638 rs_149081239

2 SubmittersRCV000270114RCV000362382RCV000967705
NM_002150.3(HPD):c.836G>A (p.Arg279His) SNV
Germline		 Chr12:121843828 Conflicting classifications of pathogenicity Tyrosinemia type III
Hawkinsinuria
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6839503 rs_140144597

2 SubmittersRCV000301673RCV000358858RCV002522222
NM_000353.3(TAT):c.558C>T (p.Tyr186=) SNV
Germline		 Chr16:71572539 Conflicting classifications of pathogenicity Tyrosinemia type II Criteria Provided
Conflicting Classifications
 CA10644178 rs_886052274

2 SubmittersRCV000368521
NM_000353.3(TAT):c.452G>A (p.Cys151Tyr) SNV
Germline		 Chr16:71572645 Likely pathogenic Condition: not provided
Tyrosinemia type II		 Criteria Provided
Multiple Submitters
No Conflicts
 CA396653365 rs_1357257156

2 SubmittersRCV000498185RCV003495139
NM_000353.3(TAT):c.340G>A (p.Gly114Ser) SNV
Germline		 Chr16:71575922 Likely pathogenic Condition: not provided
Tyrosinemia type II		 Criteria Provided
Single Submitter
 CA8154016 rs_759311161

2 SubmittersRCV000497415RCV000984227
NM_002150.3(HPD):c.75G>A (p.Trp25Ter) SNV
Germline		 Chr12:121857775 Pathogenic/Likely pathogenic Hawkinsinuria
Tyrosinemia type III
Tyrosinemia type III
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6839849 rs_367674632

3 SubmittersRCV000634916RCV000714861RCV001784207
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg) SNV
Germline		 Chr19:12893627 Conflicting classifications of pathogenicity Glutaric aciduria, type 1
Tyrosinemia type III		 Criteria Provided
Conflicting Classifications
 CA404317639 rs_1176799813

4 SubmittersRCV000634888RCV004544826
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln) SNV
Germline		 Chr16:71568211 Conflicting classifications of pathogenicity Tyrosinemia type II Criteria Provided
Conflicting Classifications
 rs_775488556

4 SubmittersRCV000665071
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp) SNV
Germline		 Chr16:71568212 Pathogenic/Likely pathogenic Tyrosinemia type II Criteria Provided
Multiple Submitters
No Conflicts
 rs_761817519

5 SubmittersRCV000668575
NM_000353.3(TAT):c.355C>T (p.Arg119Trp) SNV
Germline		 Chr16:71573592 Conflicting classifications of pathogenicity Tyrosinemia type II Criteria Provided
Conflicting Classifications
 rs_758306831

3 SubmittersRCV000665945
NM_000353.3(TAT):c.1A>G (p.Met1Val) SNV
Unknown		 Chr16:71576415 Likely pathogenic Tyrosinemia type II Criteria Provided
Single Submitter
 rs_1426882225

1 SubmittersRCV000669173
NM_000353.3(TAT):c.1041+2T>C SNV
Germline		 Chr16:71570267 Likely pathogenic Tyrosinemia type II Criteria Provided
Multiple Submitters
No Conflicts
 rs_113758103

2 SubmittersRCV000668624
NM_000353.3(TAT):c.707-1G>A SNV
Unknown		 Chr16:71571659 Likely pathogenic Tyrosinemia type II Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555537814

2 SubmittersRCV000664650
NM_000353.3(TAT):c.1250G>A (p.Arg417Gln) SNV
Germline		 Chr16:71568259 Conflicting classifications of pathogenicity Tyrosinemia type II Criteria Provided
Conflicting Classifications
 rs_757879229

2 SubmittersRCV000664686
NM_000353.3(TAT):c.1125+1G>T SNV
Unknown		 Chr16:71569853 Likely pathogenic Tyrosinemia type II Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555537662

2 SubmittersRCV000667629
NM_000353.3(TAT):c.568-2A>G SNV
Germline		 Chr16:71572326 Likely pathogenic Tyrosinemia type II Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555537871

2 SubmittersRCV000667793
NM_000353.3(TAT):c.340+2T>C SNV
Unknown		 Chr16:71575920 Likely pathogenic Tyrosinemia type II Criteria Provided
Single Submitter
 rs_1555538138

1 SubmittersRCV000665328
NM_000353.3(TAT):c.235+1G>A SNV
Unknown		 Chr16:71576180 Likely pathogenic Tyrosinemia type II Criteria Provided
Single Submitter
 rs_748924248

1 SubmittersRCV000667709
NM_002150.3(HPD):c.43C>T (p.Arg15Ter) SNV
Germline		 Chr12:121857807 Pathogenic Hawkinsinuria
Tyrosinemia type III		 Criteria Provided
Single Submitter
 rs_775747384

1 SubmittersRCV000690834
NM_000353.3(TAT):c.889C>T (p.Arg297Ter) SNV
Germline		 Chr16:71570702 Pathogenic/Likely pathogenic Condition: not provided
Tyrosinemia type II		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_758491525

4 SubmittersRCV000760323RCV002500981
NM_000353.3(TAT):c.1290G>A (p.Ala430=) SNV
Germline		 Chr16:71568219 Conflicting classifications of pathogenicity Tyrosinemia type II Criteria Provided
Conflicting Classifications
 rs_767563000

2 SubmittersRCV000932959
NM_002150.3(HPD):c.1108G>A (p.Ala370Thr) SNV
Germline		 Chr12:121839802 Conflicting classifications of pathogenicity Tyrosinemia type III
Hawkinsinuria		 Criteria Provided
Conflicting Classifications
 rs_142321451

1 SubmittersRCV001109665RCV001109666
NM_002150.3(HPD):c.915G>A (p.Thr305=) SNV
Germline		 Chr12:121843749 Conflicting classifications of pathogenicity Tyrosinemia type III
Hawkinsinuria
Hawkinsinuria
Tyrosinemia type III		 Criteria Provided
Conflicting Classifications
 rs_751753975

2 SubmittersRCV001111972RCV001111973RCV003769128
NM_002150.3(HPD):c.543C>T (p.Ile181=) SNV
Germline		 Chr12:121849052 Conflicting classifications of pathogenicity Hawkinsinuria
Tyrosinemia type III
Hawkinsinuria
Tyrosinemia type III		 Criteria Provided
Conflicting Classifications
 rs_756242095

2 SubmittersRCV001112427RCV001112426RCV002556196
NM_000353.3(TAT):c.1146T>C (p.His382=) SNV
Germline		 Chr16:71568789 Conflicting classifications of pathogenicity Tyrosinemia type II Criteria Provided
Conflicting Classifications
 rs_141534499

2 SubmittersRCV001118617
NM_000353.3(TAT):c.231C>A (p.Ser77=) SNV
Germline		 Chr16:71576185 Conflicting classifications of pathogenicity Tyrosinemia type II Criteria Provided
Conflicting Classifications
 rs_562235592

2 SubmittersRCV001120457
NM_000353.3(TAT):c.1217C>T (p.Pro406Leu) SNV
Germline		 Chr16:71568718 Pathogenic Tyrosinemia type II No Assertion Criteria Provided
 rs_2044180572

1 SubmittersRCV001255958
NM_000353.3(TAT):c.858C>A (p.Gly286=) SNV
Germline		 Chr16:71570733 Conflicting classifications of pathogenicity Condition: not provided
Tyrosinemia type II		 Criteria Provided
Conflicting Classifications
 rs_970559788

2 SubmittersRCV001761381RCV002074015
NM_000353.3(TAT):c.916C>T (p.Arg306Ter) SNV
Germline		 Chr16:71570394 Pathogenic/Likely pathogenic Tyrosinemia type II Criteria Provided
Multiple Submitters
No Conflicts
 rs_1316166172

2 SubmittersRCV001924420
NM_000353.3(TAT):c.759+1G>A SNV
Germline		 Chr16:71571605 Likely pathogenic Tyrosinemia type II Criteria Provided
Single Submitter
 rs_2145232021

1 SubmittersRCV002015283
NM_000353.3(TAT):c.582G>A (p.Trp194Ter) SNV
Germline		 Chr16:71572310 Pathogenic Tyrosinemia type II Criteria Provided
Single Submitter
 rs_2145232689

1 SubmittersRCV002039621
NM_000353.3(TAT):c.556T>C (p.Tyr186His) SNV
Germline		 Chr16:71572541 Likely pathogenic Tyrosinemia type II Criteria Provided
Single Submitter
 rs_2145232912

1 SubmittersRCV001881123
NM_000353.3(TAT):c.707-2A>G SNV
Germline		 Chr16:71571660 Pathogenic/Likely pathogenic Tyrosinemia type II Criteria Provided
Multiple Submitters
No Conflicts
 rs_1005382525

3 SubmittersRCV001973516
NM_000353.3(TAT):c.339C>T (p.Ile113=) SNV
Germline		 Chr16:71575923 Conflicting classifications of pathogenicity Tyrosinemia type II
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_764951157

2 SubmittersRCV001960812RCV003408021
NM_000353.3(TAT):c.912+1G>A SNV
Germline		 Chr16:71570678 Likely pathogenic Tyrosinemia type II Criteria Provided
Multiple Submitters
No Conflicts
 rs_2044196815

2 SubmittersRCV002238565
NM_000353.3(TAT):c.283C>T (p.Gln95Ter) SNV
Unknown		 Chr16:71575979 Likely pathogenic Tyrosinemia type II Criteria Provided
Single Submitter

1 SubmittersRCV002309397
NM_000353.3(TAT):c.313A>T (p.Lys105Ter) SNV
Unknown		 Chr16:71575949 Likely pathogenic Tyrosinemia type II Criteria Provided
Single Submitter

1 SubmittersRCV002310411
NM_002150.3(HPD):c.613C>T (p.Gln205Ter) SNV
Germline		 Chr12:121847198 Pathogenic Tyrosinemia type III
Hawkinsinuria		 Criteria Provided
Single Submitter

1 SubmittersRCV003077399
NM_002150.3(HPD):c.91C>T (p.Gln31Ter) SNV
Germline		 Chr12:121857759 Pathogenic Tyrosinemia type III
Hawkinsinuria		 Criteria Provided
Single Submitter

1 SubmittersRCV003055865
NM_002150.3(HPD):c.842T>A (p.Leu281Ter) SNV
Germline		 Chr12:121843822 Likely pathogenic Tyrosinemia type III Criteria Provided
Single Submitter

1 SubmittersRCV003155618
NM_000353.3(TAT):c.1224G>T (p.Thr408=) SNV
Germline		 Chr16:71568711 Pathogenic/Likely pathogenic Tyrosinemia type II Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003464661
NM_000353.3(TAT):c.706+2T>C SNV
Unknown		 Chr16:71572184 Likely pathogenic Tyrosinemia type II Criteria Provided
Single Submitter

1 SubmittersRCV003464663
NM_000353.3(TAT):c.440C>T (p.Ala147Val) SNV
Unknown		 Chr16:71572657 Likely pathogenic Tyrosinemia type II Criteria Provided
Single Submitter

1 SubmittersRCV003464664
NM_000353.3(TAT):c.742G>T (p.Glu248Ter) SNV
Germline		 Chr16:71571623 Pathogenic Tyrosinemia type II Criteria Provided
Single Submitter

1 SubmittersRCV003496182
NM_000353.3(TAT):c.825T>A (p.Cys275Ter) SNV
Germline		 Chr16:71570766 Pathogenic Tyrosinemia type II Criteria Provided
Single Submitter

1 SubmittersRCV003494973
NM_000353.3(TAT):c.1041+2T>G SNV
Germline		 Chr16:71570267 Likely pathogenic Tyrosinemia type II Criteria Provided
Single Submitter

1 SubmittersRCV003495726
NM_002150.3(HPD):c.414+1G>C SNV
Germline		 Chr12:121854702 Likely pathogenic Tyrosinemia type III
Hawkinsinuria		 Criteria Provided
Single Submitter

1 SubmittersRCV003791992
NM_002150.3(HPD):c.93+2T>C SNV
Germline		 Chr12:121857755 Likely pathogenic Tyrosinemia type III
Hawkinsinuria		 Criteria Provided
Single Submitter

1 SubmittersRCV003793698
NM_002150.3(HPD):c.4-2A>G SNV
Germline		 Chr12:121858715 Likely pathogenic Tyrosinemia type III
Hawkinsinuria		 Criteria Provided
Single Submitter

1 SubmittersRCV003805774
NM_002150.3(HPD):c.31-1G>A SNV
Germline		 Chr12:121857820 Likely pathogenic Hawkinsinuria
Tyrosinemia type III		 Criteria Provided
Single Submitter

1 SubmittersRCV003794892
NM_002150.3(HPD):c.597-1G>A SNV
Germline		 Chr12:121847215 Likely pathogenic Tyrosinemia type III
Hawkinsinuria		 Criteria Provided
Single Submitter

1 SubmittersRCV003804594
NM_000353.3(TAT):c.341G>C (p.Gly114Ala) SNV
Unknown		 Chr16:71573606 Likely pathogenic Tyrosinemia type II Criteria Provided
Single Submitter

1 SubmittersRCV004573691
NM_000353.3(TAT):c.872G>A (p.Trp291Ter) SNV
Unknown		 Chr16:71570719 Likely pathogenic Tyrosinemia type II Criteria Provided
Single Submitter

1 SubmittersRCV004573692
NM_000353.3(TAT):c.516C>A (p.Tyr172Ter) SNV
Unknown		 Chr16:71572581 Likely pathogenic Tyrosinemia type II Criteria Provided
Single Submitter

1 SubmittersRCV004573693
NM_000353.3(TAT):c.1224+1G>C SNV
Unknown		 Chr16:71568710 Likely pathogenic Tyrosinemia type II Criteria Provided
Single Submitter

1 SubmittersRCV004573695
NM_000353.3(TAT):c.760-1G>T SNV
Unknown		 Chr16:71570832 Likely pathogenic Tyrosinemia type II Criteria Provided
Single Submitter

1 SubmittersRCV004573696