| NM_000277.3(PAH):c.1037G>A (p.Gly346Glu) |
single nucleotide variant |
Phenylketonuria [RCV000553622] |
Chr12:102844364 [GRCh38]
Chr12:103238142 [GRCh37]
Chr12:12q23.2 |
pathogenic|uncertain significance |
| NM_000277.3(PAH):c.1315+1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV000622610]|PAH-related disorder [RCV003407249]|Phenylketonuria [RCV000000606]|Pituitary hormone deficiency, combined, 2 [RCV004799176]|not provided [RCV000078510] |
Chr12:102840399 [GRCh38]
Chr12:102840399..102840400 [GRCh38]
Chr12:103234177 [GRCh37]
Chr12:103234177..103234178 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.442-1G>A |
single nucleotide variant |
Phenylketonuria [RCV000000625]|not provided [RCV000088924] |
Chr12:102866664 [GRCh38]
Chr12:103260442 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1092_1094del (p.Leu365del) |
deletion |
Phenylketonuria [RCV000000628]|not provided [RCV000088752] |
Chr12:102843751..102843753 [GRCh38]
Chr12:103237529..103237531 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.842+1G>A |
single nucleotide variant |
Hyperphenylalaninemia [RCV004798708]|Phenylketonuria [RCV000000630]|not provided [RCV000089129] |
Chr12:102852814 [GRCh38]
Chr12:103246592 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| NM_000277.3(PAH):c.1197A>T (p.Val399=) |
single nucleotide variant |
Phenylketonuria [RCV000000632]|not provided [RCV000088786] |
Chr12:102843648 [GRCh38]
Chr12:103237426 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) |
microsatellite |
Phenylketonuria [RCV000000635]|not provided [RCV000078518] |
Chr12:102894801..102894803 [GRCh38]
Chr12:103288579..103288581 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| PAH, SER349ARG |
variation |
Phenylketonuria [RCV000000637] |
Chr12:12q24.1 |
pathogenic|affects |
| NM_000277.3(PAH):c.1066-11G>A |
single nucleotide variant |
Hyperphenylalaninemia [RCV004798709]|Inborn genetic diseases [RCV002512611]|Phenylketonuria [RCV000000638]|not provided [RCV000078500] |
Chr12:102843790 [GRCh38]
Chr12:103237568 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.165del (p.Phe55fs) |
deletion |
Phenylketonuria [RCV000000642]|not provided [RCV000078513] |
Chr12:102912794 [GRCh38]
Chr12:103306572 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| NM_000277.3(PAH):c.842+2T>A |
single nucleotide variant |
Phenylketonuria [RCV000000645]|not provided [RCV000089131] |
Chr12:102852813 [GRCh38]
Chr12:103246591 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del) |
deletion |
Phenylketonuria [RCV000000651]|not provided [RCV000088753] |
Chr12:102843739..102843753 [GRCh38]
Chr12:103237517..103237531 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1066-3C>T |
single nucleotide variant |
Phenylketonuria [RCV000000654]|not provided [RCV000088742] |
Chr12:102843782 [GRCh38]
Chr12:103237560 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| NM_000277.3(PAH):c.1065+3A>G |
single nucleotide variant |
Hyperphenylalaninemia [RCV000000665]|Phenylketonuria [RCV000758111]|not provided [RCV000088736] |
Chr12:102844333 [GRCh38]
Chr12:103238111 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.1129del (p.Tyr377fs) |
deletion |
Phenylketonuria [RCV000000666]|not provided [RCV000088766] |
Chr12:102843716 [GRCh38]
Chr12:103237494 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs) |
deletion |
Phenylketonuria [RCV000000669] |
Chr12:102843645..102846952 [GRCh38]
Chr12:12q23.2 |
pathogenic |
| NM_001354304.2(PAH):c.-95-4071_-95-313del |
deletion |
Hyperphenylalaninemia [RCV000000670]|Phenylketonuria [RCV001375892] |
Chr12:102917538..102921296 [GRCh38]
Chr12:103311316..103315074 [GRCh37]
Chr12:12q24.1 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.506G>C (p.Arg169Pro) |
single nucleotide variant |
Phenylketonuria [RCV000515792] |
Chr12:102866599 [GRCh38]
Chr12:103260377 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.837C>T (p.Pro279=) |
single nucleotide variant |
Inborn genetic diseases [RCV004024997]|PAH-related disorder [RCV003945536]|Phenylketonuria [RCV000875702]|not provided [RCV004704128]|not specified [RCV000603245] |
Chr12:102852820 [GRCh38]
Chr12:103246598 [GRCh37]
Chr12:12q23.2 |
benign|likely benign |
| NM_000277.3(PAH):c.865G>A (p.Gly289Arg) |
single nucleotide variant |
Phenylketonuria [RCV000548849] |
Chr12:102851734 [GRCh38]
Chr12:103245512 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.934G>T (p.Gly312Cys) |
single nucleotide variant |
Phenylketonuria [RCV000515773] |
Chr12:102846930 [GRCh38]
Chr12:103240708 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.814G>T (p.Gly272Ter) |
single nucleotide variant |
PAH-related disorder [RCV003914791]|Phenylketonuria [RCV000000627]|not provided [RCV000089110] |
Chr12:102852843 [GRCh38]
Chr12:103246621 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.818C>T (p.Ser273Phe) |
single nucleotide variant |
Phenylketonuria [RCV000000629]|not provided [RCV000089111] |
Chr12:102852839 [GRCh38]
Chr12:103246617 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.764T>C (p.Leu255Ser) |
single nucleotide variant |
Phenylketonuria [RCV000000631]|not provided [RCV000089083] |
Chr12:102852893 [GRCh38]
Chr12:103246671 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.776C>T (p.Ala259Val) |
single nucleotide variant |
Phenylketonuria [RCV000000633]|not provided [RCV000089089] |
Chr12:102852881 [GRCh38]
Chr12:103246659 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) |
single nucleotide variant |
PAH-related disorder [RCV004739274]|Phenylketonuria [RCV000000634]|not provided [RCV000078531] |
Chr12:102852828 [GRCh38]
Chr12:103246606 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.117C>G (p.Phe39Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004018527]|PAH-related disorder [RCV003904791]|Phenylketonuria [RCV000000636]|not provided [RCV000078504] |
Chr12:102912842 [GRCh38]
Chr12:103306620 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.143T>C (p.Leu48Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002512612]|PAH-related disorder [RCV003421890]|Phenylketonuria [RCV000000639]|not provided [RCV000078511] |
Chr12:102912816 [GRCh38]
Chr12:103306594 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.662A>G (p.Glu221Gly) |
single nucleotide variant |
Phenylketonuria [RCV000000640]|not provided [RCV000089024] |
Chr12:102855180 [GRCh38]
Chr12:103248958 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.781C>T (p.Arg261Ter) |
single nucleotide variant |
Phenylketonuria [RCV000000641]|Pulmonary hypertension, primary, 1 [RCV003984798]|not provided [RCV000089090] |
Chr12:102852876 [GRCh38]
Chr12:103246654 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) |
single nucleotide variant |
Hyperphenylalaninemia [RCV004798710]|PAH-related disorder [RCV003934788]|Phenylketonuria [RCV000000643]|not provided [RCV000088806] |
Chr12:102840492 [GRCh38]
Chr12:103234270 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.896T>G (p.Phe299Cys) |
single nucleotide variant |
PAH-related disorder [RCV004739275]|Phenylketonuria [RCV000000644]|not provided [RCV000089148] |
Chr12:102851703 [GRCh38]
Chr12:103245481 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) |
single nucleotide variant |
Phenylketonuria [RCV000000646]|not provided [RCV000078499] |
Chr12:102844356 [GRCh38]
Chr12:103238134 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.965C>G (p.Ala322Gly) |
single nucleotide variant |
Mild non-PKU hyperphenylalanemia [RCV000000647]|Phenylketonuria [RCV000675108]|See cases [RCV002251845]|not provided [RCV000089177] |
Chr12:102846899 [GRCh38]
Chr12:103240677 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) |
single nucleotide variant |
Hyperphenylalaninemia [RCV000000648]|PAH-related disorder [RCV003415609]|Phenylketonuria [RCV000401074]|not provided [RCV000088815] |
Chr12:102840472 [GRCh38]
Chr12:103234250 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.916A>G (p.Ile306Val) |
single nucleotide variant |
Hyperphenylalaninemia [RCV000000649]|Phenylketonuria [RCV000169485]|not provided [RCV000089157] |
Chr12:102846948 [GRCh38]
Chr12:103240726 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.1162G>A (p.Val388Met) |
single nucleotide variant |
Phenylketonuria [RCV000000650]|not provided [RCV000088774] |
Chr12:102843683 [GRCh38]
Chr12:103237461 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.731C>T (p.Pro244Leu) |
single nucleotide variant |
Phenylketonuria [RCV000000652]|not provided [RCV000089061] |
Chr12:102852926 [GRCh38]
Chr12:103246704 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Phenylketonuria [RCV000000653]|not provided [RCV000088911] |
Chr12:102917128 [GRCh38]
Chr12:103310906 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.997C>T (p.Leu333Phe) |
single nucleotide variant |
Hyperphenylalaninemia [RCV000000655]|Phenylketonuria [RCV002259565]|not provided [RCV000089195] |
Chr12:102844404 [GRCh38]
Chr12:103238182 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) |
single nucleotide variant |
Hyperphenylalaninemia [RCV000000656]|Mild hyperphenylalaninemia [RCV003993726]|PAH-related disorder [RCV003914792]|Phenylketonuria [RCV000000657]|not provided [RCV000078503] |
Chr12:102843676 [GRCh38]
Chr12:103237454 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.1076C>G (p.Ser359Ter) |
single nucleotide variant |
Phenylketonuria [RCV000000658]|not provided [RCV000088747] |
Chr12:102843769 [GRCh38]
Chr12:103237547 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.293T>C (p.Leu98Ser) |
single nucleotide variant |
Mild non-PKU hyperphenylalanemia [RCV000000659]|PAH-related disorder [RCV003914793]|Phenylketonuria [RCV000675074]|not provided [RCV000088892]|not specified [RCV003323344] |
Chr12:102894794 [GRCh38]
Chr12:103288572 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.1139C>T (p.Thr380Met) |
single nucleotide variant |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency [RCV001280537]|Hyperphenylalaninemia [RCV000000660]|Inborn genetic diseases [RCV003258654]|Marfanoid habitus and intellectual disability [RCV000850463]|PAH-related disorder [RCV003390629]|Phenylketonuria [RCV000150077]|not provided [RCV000078502] |
Chr12:102843706 [GRCh38]
Chr12:103237484 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|no classifications from unflagged records|not provided |
| NM_000277.3(PAH):c.136G>A (p.Gly46Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002512613]|Phenylketonuria [RCV000000661]|not provided [RCV000088836] |
Chr12:102912823 [GRCh38]
Chr12:103306601 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.140C>T (p.Ala47Val) |
single nucleotide variant |
Hyperphenylalaninemia [RCV000000662]|Phenylketonuria [RCV001200011]|not provided [RCV000088839] |
Chr12:102912819 [GRCh38]
Chr12:103306597 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.527G>T (p.Arg176Leu) |
single nucleotide variant |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency [RCV001280536]|Hyperphenylalaninemia [RCV000000663]|Inborn genetic diseases [RCV002512614]|Phenylketonuria [RCV000346024]|See cases [RCV002251846]|not provided [RCV000088974] |
Chr12:102855315 [GRCh38]
Chr12:103249093 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.734T>C (p.Val245Ala) |
single nucleotide variant |
Hyperphenylalaninemia [RCV000000664]|Inborn genetic diseases [RCV002512615]|Phenylketonuria [RCV000346938]|not provided [RCV000089065] |
Chr12:102852923 [GRCh38]
Chr12:103246701 [GRCh37]
Chr12:12q23.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.1220C>T (p.Pro407Leu) |
single nucleotide variant |
Phenylketonuria [RCV000000667]|not provided [RCV000088804] |
Chr12:102840495 [GRCh38]
Chr12:103234273 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.194T>C (p.Ile65Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004018528]|PAH-related disorder [RCV003398402]|Phenylketonuria [RCV000000668]|See cases [RCV002251847]|not provided [RCV000078516] |
Chr12:102894893 [GRCh38]
Chr12:103288671 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.227A>G (p.Glu76Gly) |
single nucleotide variant |
Hyperphenylalaninemia [RCV000000671]|Phenylketonuria [RCV000672628]|not provided [RCV000088878] |
Chr12:102894860 [GRCh38]
Chr12:103288638 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002512607]|PAH-related disorder [RCV003415607]|Phenylketonuria [RCV000000607]|See cases [RCV004584303]|not provided [RCV000078507] |
Chr12:102840493 [GRCh38]
Chr12:103234271 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.932T>C (p.Leu311Pro) |
single nucleotide variant |
Phenylketonuria [RCV000000608]|not provided [RCV000089164] |
Chr12:102846932 [GRCh38]
Chr12:103240710 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| NM_000277.3(PAH):c.977G>A (p.Trp326Ter) |
single nucleotide variant |
Phenylketonuria [RCV000000609]|not provided [RCV000089188] |
Chr12:102844424 [GRCh38]
Chr12:103238202 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.838G>A (p.Glu280Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002512608]|PAH-related disorder [RCV004739272]|Phenylketonuria [RCV000000610]|Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV003162201]|not provided [RCV000078532] |
Chr12:102852819 [GRCh38]
Chr12:103246597 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.331C>T (p.Arg111Ter) |
single nucleotide variant |
Phenylketonuria [RCV000000611]|not provided [RCV000088898] |
Chr12:102894756 [GRCh38]
Chr12:103288534 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.782G>A (p.Arg261Gln) |
single nucleotide variant |
PAH-related disorder [RCV003904790]|Phenylketonuria [RCV000000612]|not provided [RCV000078530] |
Chr12:102852875 [GRCh38]
Chr12:103246653 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.261C>A (p.Ser87Arg) |
single nucleotide variant |
Hyperphenylalaninemia [RCV000000613]|Inborn genetic diseases [RCV002512609]|PAH-related disorder [RCV003934787]|Phenylketonuria [RCV000763293]|not provided [RCV000088884] |
Chr12:102894826 [GRCh38]
Chr12:103288604 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.754C>T (p.Arg252Trp) |
single nucleotide variant |
Phenylketonuria [RCV000000614]|Pulmonary hypertension, primary, 1 [RCV003984797]|See cases [RCV002251844]|not provided [RCV000089079] |
Chr12:102852903 [GRCh38]
Chr12:103246681 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| NM_000277.3(PAH):c.1A>G (p.Met1Val) |
single nucleotide variant |
Hyperphenylalaninemia [RCV000000617]|Phenylketonuria [RCV000000616]|not provided [RCV000088868] |
Chr12:102917130 [GRCh38]
Chr12:103310908 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| NM_000277.3(PAH):c.473G>A (p.Arg158Gln) |
single nucleotide variant |
PAH-related disorder [RCV003415608]|Phenylketonuria [RCV000000618]|not provided [RCV000078522] |
Chr12:102866632 [GRCh38]
Chr12:103260410 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.727C>T (p.Arg243Ter) |
single nucleotide variant |
Hyperphenylalaninemia [RCV004798707]|Inborn genetic diseases [RCV002512610]|PAH-related disorder [RCV003407250]|Phenylketonuria [RCV000000619]|not provided [RCV000078528] |
Chr12:102852930 [GRCh38]
Chr12:103246708 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.842C>T (p.Pro281Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV001265833]|PAH-related disorder [RCV003914790]|Phenylketonuria [RCV000000620]|not provided [RCV000078534] |
Chr12:102852815 [GRCh38]
Chr12:103246593 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) |
single nucleotide variant |
Phenylketonuria [RCV000000621]|not provided [RCV000089007] |
Chr12:102855231 [GRCh38]
Chr12:103249009 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| NM_000277.3(PAH):c.728G>A (p.Arg243Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV000624337]|PAH-related disorder [RCV004739273]|Phenylketonuria [RCV000000622]|not provided [RCV000089059] |
Chr12:102852929 [GRCh38]
Chr12:103246707 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) |
single nucleotide variant |
Phenylketonuria [RCV000000623]|not provided [RCV000088813] |
Chr12:102840477 [GRCh38]
Chr12:103234255 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) |
single nucleotide variant |
Hyperphenylalaninemia [RCV000000624]|PAH-related disorder [RCV003398401]|Phenylketonuria [RCV000150074]|See cases [RCV004584304]|not provided [RCV000078508] |
Chr12:102840474 [GRCh38]
Chr12:103234252 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) |
single nucleotide variant |
Phenylketonuria [RCV000000626]|not provided [RCV000088745] |
Chr12:102843777 [GRCh38]
Chr12:103237555 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| GRCh38/hg38 12q23.1-23.3(chr12:100670616-108583607)x1 |
copy number loss |
See cases [RCV000051320] |
Chr12:100670616..108583607 [GRCh38]
Chr12:101064394..108977383 [GRCh37]
Chr12:99588525..107501512 [NCBI36]
Chr12:12q23.1-23.3 |
pathogenic |
| NM_000277.1(PAH):c.1141G>A (p.Glu381Lys) |
single nucleotide variant |
Malignant melanoma [RCV000069777] |
Chr12:102843704 [GRCh38]
Chr12:103237482 [GRCh37]
Chr12:101761612 [NCBI36]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.926C>A (p.Ala309Asp) |
single nucleotide variant |
Phenylketonuria [RCV000668228]|not provided [RCV000089160] |
Chr12:102846938 [GRCh38]
Chr12:103240716 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.929C>A (p.Ser310Tyr) |
single nucleotide variant |
not provided [RCV000089161] |
Chr12:102846935 [GRCh38]
Chr12:103240713 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.929C>T (p.Ser310Phe) |
single nucleotide variant |
Phenylketonuria [RCV000552302]|not provided [RCV000089162] |
Chr12:102846935 [GRCh38]
Chr12:103240713 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.930_940del (p.Ser310_Leu311insTer) |
deletion |
Phenylketonuria [RCV001240978]|not provided [RCV000089163] |
Chr12:102846924..102846934 [GRCh38]
Chr12:103240702..103240712 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.935G>A (p.Gly312Asp) |
single nucleotide variant |
Phenylketonuria [RCV001269049]|not provided [RCV000089165] |
Chr12:102846929 [GRCh38]
Chr12:103240707 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.937G>A (p.Ala313Thr) |
single nucleotide variant |
Phenylketonuria [RCV000669990]|not provided [RCV000089166] |
Chr12:102846927 [GRCh38]
Chr12:103240705 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.938C>T (p.Ala313Val) |
single nucleotide variant |
Phenylketonuria [RCV001857434]|See cases [RCV002251982]|not provided [RCV000089167] |
Chr12:102846926 [GRCh38]
Chr12:103240704 [GRCh37]
Chr12:12q23.2 |
pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.940C>A (p.Pro314Thr) |
single nucleotide variant |
Phenylketonuria [RCV000672630]|not provided [RCV000089168] |
Chr12:102846924 [GRCh38]
Chr12:103240702 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.940C>T (p.Pro314Ser) |
single nucleotide variant |
Phenylketonuria [RCV000758098]|not provided [RCV000089169] |
Chr12:102846924 [GRCh38]
Chr12:103240702 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.941del (p.Pro314fs) |
deletion |
Phenylketonuria [RCV002259597]|not provided [RCV000089170] |
Chr12:102846923 [GRCh38]
Chr12:103240701 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.941C>A (p.Pro314His) |
single nucleotide variant |
Phenylketonuria [RCV000409567]|not provided [RCV000089171] |
Chr12:102846923 [GRCh38]
Chr12:103240701 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.943G>T (p.Asp315Tyr) |
single nucleotide variant |
not provided [RCV000089172] |
Chr12:102846921 [GRCh38]
Chr12:103240699 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.953T>C (p.Ile318Thr) |
single nucleotide variant |
not provided [RCV000089173] |
Chr12:102846911 [GRCh38]
Chr12:103240689 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.960G>C (p.Lys320Asn) |
single nucleotide variant |
Phenylketonuria [RCV000666332]|not provided [RCV000089174] |
Chr12:102846904 [GRCh38]
Chr12:103240682 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.963C>T (p.Leu321=) |
single nucleotide variant |
Phenylketonuria [RCV000721181]|not provided [RCV000089175]|not specified [RCV000507684] |
Chr12:102846901 [GRCh38]
Chr12:103240679 [GRCh37]
Chr12:12q23.2 |
benign|not provided |
| NM_000277.3(PAH):c.964G>A (p.Ala322Thr) |
single nucleotide variant |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency [RCV004782238]|Inborn genetic diseases [RCV002515784]|Phenylketonuria [RCV000797233]|not provided [RCV000089176] |
Chr12:102846900 [GRCh38]
Chr12:103240678 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.968_970del (p.Thr323del) |
deletion |
Phenylketonuria [RCV000587503]|not provided [RCV000089178] |
Chr12:102846895..102846897 [GRCh38]
Chr12:103240673..103240675 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.969+1G>A |
single nucleotide variant |
Phenylketonuria [RCV000797251]|not provided [RCV000089179] |
Chr12:102846894 [GRCh38]
Chr12:103240672 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.969+5G>A |
single nucleotide variant |
Phenylketonuria [RCV001093511]|not provided [RCV000089181] |
Chr12:102846890 [GRCh38]
Chr12:103240668 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.969+6T>A |
single nucleotide variant |
Phenylketonuria [RCV000664529]|not provided [RCV000089182]|not specified [RCV001778708] |
Chr12:102846889 [GRCh38]
Chr12:103240667 [GRCh37]
Chr12:12q23.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.969A>G (p.Thr323=) |
single nucleotide variant |
Phenylketonuria [RCV000672139]|not provided [RCV000089183] |
Chr12:102846895 [GRCh38]
Chr12:103240673 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.970-2A>C |
single nucleotide variant |
Phenylketonuria [RCV001269320]|not provided [RCV000089184] |
Chr12:102844433 [GRCh38]
Chr12:103238211 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.970-5T>A |
single nucleotide variant |
not provided [RCV000089185] |
Chr12:102844436 [GRCh38]
Chr12:103238214 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.970-6T>G |
single nucleotide variant |
Phenylketonuria [RCV002259598]|not provided [RCV000089186] |
Chr12:102844437 [GRCh38]
Chr12:103238215 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.975C>G (p.Tyr325Ter) |
single nucleotide variant |
Phenylketonuria [RCV000410321]|not provided [RCV000089187] |
Chr12:102844426 [GRCh38]
Chr12:103238204 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.981T>G (p.Phe327Leu) |
single nucleotide variant |
Phenylketonuria [RCV001199991]|not provided [RCV000089189] |
Chr12:102844420 [GRCh38]
Chr12:103238198 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.982A>G (p.Thr328Ala) |
single nucleotide variant |
Phenylketonuria [RCV001854516]|not provided [RCV000089190] |
Chr12:102844419 [GRCh38]
Chr12:103238197 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.990G>C (p.Glu330Asp) |
single nucleotide variant |
Phenylketonuria [RCV002513935]|not provided [RCV000089191] |
Chr12:102844411 [GRCh38]
Chr12:103238189 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.991T>C (p.Phe331Leu) |
single nucleotide variant |
not provided [RCV000089192] |
Chr12:102844410 [GRCh38]
Chr12:103238188 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.992T>G (p.Phe331Cys) |
single nucleotide variant |
Phenylketonuria [RCV002515785]|not provided [RCV000089193] |
Chr12:102844409 [GRCh38]
Chr12:103238187 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.995G>A (p.Gly332Glu) |
single nucleotide variant |
not provided [RCV000089194] |
Chr12:102844406 [GRCh38]
Chr12:103238184 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1004A>C (p.Lys335Thr) |
single nucleotide variant |
Phenylketonuria [RCV000106338] |
Chr12:102844397 [GRCh38]
Chr12:103238175 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.1066-2A>T |
single nucleotide variant |
Phenylketonuria [RCV000106339] |
Chr12:102843781 [GRCh38]
Chr12:103237559 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.1152C>G (p.Pro384=) |
single nucleotide variant |
Phenylketonuria [RCV000106340] |
Chr12:102843693 [GRCh38]
Chr12:103237471 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1163T>C (p.Val388Ala) |
single nucleotide variant |
Phenylketonuria [RCV000106341] |
Chr12:102843682 [GRCh38]
Chr12:103237460 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1171A>G (p.Ser391Gly) |
single nucleotide variant |
Phenylketonuria [RCV000106342] |
Chr12:102843674 [GRCh38]
Chr12:103237452 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.1180G>T (p.Asp394Tyr) |
single nucleotide variant |
Phenylketonuria [RCV000106343] |
Chr12:102843665 [GRCh38]
Chr12:103237443 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1196T>C (p.Val399Ala) |
single nucleotide variant |
Phenylketonuria [RCV000106344]|See cases [RCV004584352] |
Chr12:102843649 [GRCh38]
Chr12:103237427 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1199+70G>A |
single nucleotide variant |
Phenylketonuria [RCV000106345] |
Chr12:102843576 [GRCh38]
Chr12:103237354 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1240T>C (p.Tyr414His) |
single nucleotide variant |
Phenylketonuria [RCV000106346] |
Chr12:102840475 [GRCh38]
Chr12:103234253 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.164T>C (p.Phe55Ser) |
single nucleotide variant |
Phenylketonuria [RCV000106347] |
Chr12:102912795 [GRCh38]
Chr12:103306573 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.169-42T>A |
single nucleotide variant |
Phenylketonuria [RCV000106348] |
Chr12:102894960 [GRCh38]
Chr12:103288738 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.169G>T (p.Glu57Ter) |
single nucleotide variant |
Phenylketonuria [RCV000106349] |
Chr12:102894918 [GRCh38]
Chr12:103288696 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.183C>A (p.Asn61Lys) |
single nucleotide variant |
Phenylketonuria [RCV000106350] |
Chr12:102894904 [GRCh38]
Chr12:103288682 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.196G>T (p.Glu66Ter) |
single nucleotide variant |
Phenylketonuria [RCV000106351] |
Chr12:102894891 [GRCh38]
Chr12:103288669 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) |
duplication |
Phenylketonuria [RCV000106352] |
Chr12:102894875..102894876 [GRCh38]
Chr12:103288653..103288654 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr) |
indel |
PAH-related disorder [RCV003390792]|Phenylketonuria [RCV000106353] |
Chr12:102894802..102894803 [GRCh38]
Chr12:103288580..103288581 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.350C>T (p.Thr117Ile) |
single nucleotide variant |
Phenylketonuria [RCV000106354] |
Chr12:102894737 [GRCh38]
Chr12:103288515 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.350del (p.Thr117fs) |
deletion |
Phenylketonuria [RCV000106355] |
Chr12:102894737 [GRCh38]
Chr12:103288515 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.441+6T>A |
single nucleotide variant |
Phenylketonuria [RCV000106356]|not provided [RCV001563425] |
Chr12:102877456 [GRCh38]
Chr12:103271234 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.442-2A>C |
single nucleotide variant |
Phenylketonuria [RCV000106357] |
Chr12:102866665 [GRCh38]
Chr12:103260443 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.504C>A (p.Tyr168Ter) |
single nucleotide variant |
Phenylketonuria [RCV000106358] |
Chr12:102866601 [GRCh38]
Chr12:103260379 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.547_548delinsTT (p.Glu183Leu) |
indel |
Phenylketonuria [RCV000106359] |
Chr12:102855294..102855295 [GRCh38]
Chr12:103249072..103249073 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.568G>A (p.Val190Met) |
single nucleotide variant |
Phenylketonuria [RCV000106360] |
Chr12:102855274 [GRCh38]
Chr12:103249052 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.591G>C (p.Leu197Phe) |
single nucleotide variant |
Phenylketonuria [RCV000106361] |
Chr12:102855251 [GRCh38]
Chr12:103249029 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.60+5G>A |
single nucleotide variant |
Phenylketonuria [RCV000106362] |
Chr12:102917066 [GRCh38]
Chr12:103310844 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.612T>C (p.Tyr204=) |
single nucleotide variant |
Inborn genetic diseases [RCV003352770]|Phenylketonuria [RCV000106363]|not provided [RCV004707941] |
Chr12:102855230 [GRCh38]
Chr12:103249008 [GRCh37]
Chr12:12q23.2 |
benign|likely benign |
| NM_000277.3(PAH):c.632C>T (p.Pro211Leu) |
single nucleotide variant |
Phenylketonuria [RCV000106364] |
Chr12:102855210 [GRCh38]
Chr12:103248988 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.682G>A (p.Glu228Lys) |
single nucleotide variant |
PAH-related disorder [RCV003398707]|Phenylketonuria [RCV000106365] |
Chr12:102855160 [GRCh38]
Chr12:103248938 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.785T>G (p.Val262Gly) |
single nucleotide variant |
Phenylketonuria [RCV000106366] |
Chr12:102852872 [GRCh38]
Chr12:103246650 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.796A>C (p.Thr266Pro) |
single nucleotide variant |
Phenylketonuria [RCV000106367] |
Chr12:102852861 [GRCh38]
Chr12:103246639 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.812A>T (p.His271Leu) |
single nucleotide variant |
Phenylketonuria [RCV000106368] |
Chr12:102852845 [GRCh38]
Chr12:103246623 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.837del (p.Glu280fs) |
deletion |
Phenylketonuria [RCV000106369] |
Chr12:102852820 [GRCh38]
Chr12:103246598 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.841C>G (p.Pro281Ala) |
single nucleotide variant |
Phenylketonuria [RCV000106370] |
Chr12:102852816 [GRCh38]
Chr12:103246594 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.869A>T (p.His290Leu) |
single nucleotide variant |
Phenylketonuria [RCV000106371] |
Chr12:102851730 [GRCh38]
Chr12:103245508 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.887A>G (p.Asp296Gly) |
single nucleotide variant |
Phenylketonuria [RCV000106372] |
Chr12:102851712 [GRCh38]
Chr12:103245490 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.912+2T>C |
single nucleotide variant |
Phenylketonuria [RCV000106373] |
Chr12:102851685 [GRCh38]
Chr12:103245463 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.912+3A>C |
single nucleotide variant |
Phenylketonuria [RCV000106374] |
Chr12:102851684 [GRCh38]
Chr12:103245462 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.913-3C>G |
single nucleotide variant |
Phenylketonuria [RCV000106375] |
Chr12:102846954 [GRCh38]
Chr12:103240732 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.913-8A>G |
single nucleotide variant |
Phenylketonuria [RCV000106376] |
Chr12:102846959 [GRCh38]
Chr12:103240737 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.916del (p.Ile306fs) |
deletion |
Phenylketonuria [RCV000106377] |
Chr12:102846948 [GRCh38]
Chr12:103240726 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.931_932del (p.Leu311fs) |
microsatellite |
Phenylketonuria [RCV000106378] |
Chr12:102846932..102846933 [GRCh38]
Chr12:103240710..103240711 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.970-1G>A |
single nucleotide variant |
Phenylketonuria [RCV000106379] |
Chr12:102844432 [GRCh38]
Chr12:103238210 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.155del (p.Leu52fs) |
deletion |
Phenylketonuria [RCV000106392] |
Chr12:102912804 [GRCh38]
Chr12:103306582 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.1(PAH):c.169-1353C>A |
single nucleotide variant |
Lung cancer [RCV000110539] |
Chr12:102896271 [GRCh38]
Chr12:103290049 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.505C>T (p.Arg169Cys) |
single nucleotide variant |
Phenylketonuria [RCV000111461]|not provided [RCV004719694] |
Chr12:102866600 [GRCh38]
Chr12:103260378 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.1039C>T (p.Leu347Phe) |
single nucleotide variant |
Phenylketonuria [RCV001543642]|not provided [RCV000088719] |
Chr12:102844362 [GRCh38]
Chr12:103238140 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1043_1053del (p.Leu348fs) |
deletion |
Phenylketonuria [RCV001269310]|not provided [RCV000088720] |
Chr12:102844348..102844358 [GRCh38]
Chr12:103238126..103238136 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1045T>G (p.Ser349Ala) |
single nucleotide variant |
Phenylketonuria [RCV001386151]|not provided [RCV000088721] |
Chr12:102844356 [GRCh38]
Chr12:103238134 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1046C>A (p.Ser349Ter) |
single nucleotide variant |
Phenylketonuria [RCV001200004]|not provided [RCV000088722] |
Chr12:102844355 [GRCh38]
Chr12:103238133 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1046C>T (p.Ser349Leu) |
single nucleotide variant |
Phenylketonuria [RCV001040702]|not provided [RCV000088723] |
Chr12:102844355 [GRCh38]
Chr12:103238133 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1044_1047dup (p.Ser350fs) |
duplication |
Phenylketonuria [RCV001789753]|not provided [RCV000088724] |
Chr12:102844353..102844354 [GRCh38]
Chr12:103238131..103238132 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1048T>A (p.Ser350Thr) |
single nucleotide variant |
Phenylketonuria [RCV001543633]|not provided [RCV000088725] |
Chr12:102844353 [GRCh38]
Chr12:103238131 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr) |
single nucleotide variant |
Phenylketonuria [RCV002498473]|not provided [RCV000088726] |
Chr12:102844352 [GRCh38]
Chr12:103238130 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1054G>C (p.Gly352Arg) |
single nucleotide variant |
Phenylketonuria [RCV001543661]|not provided [RCV000088727] |
Chr12:102844347 [GRCh38]
Chr12:103238125 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1054G>T (p.Gly352Cys) |
single nucleotide variant |
Phenylketonuria [RCV002514541]|not provided [RCV000088728] |
Chr12:102844347 [GRCh38]
Chr12:103238125 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1055del (p.Gly352fs) |
deletion |
Phenylketonuria [RCV000267428]|not provided [RCV000088729] |
Chr12:102844346 [GRCh38]
Chr12:103238124 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1056del (p.Glu353fs) |
deletion |
Intellectual disability [RCV001252101]|Phenylketonuria [RCV002259582]|not provided [RCV000088730] |
Chr12:102844345 [GRCh38]
Chr12:103238123 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely benign|not provided |
| NM_000277.3(PAH):c.1063C>T (p.Gln355Ter) |
single nucleotide variant |
Phenylketonuria [RCV001234044]|not provided [RCV000088731] |
Chr12:102844338 [GRCh38]
Chr12:103238116 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1065+1G>A |
single nucleotide variant |
Phenylketonuria [RCV000411856]|not provided [RCV000088732] |
Chr12:102844335 [GRCh38]
Chr12:103238113 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1065+32T>A |
single nucleotide variant |
not provided [RCV000088733] |
Chr12:102844304 [GRCh38]
Chr12:103238082 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1065+39G>T |
single nucleotide variant |
Phenylketonuria [RCV000665017]|not provided [RCV000088734] |
Chr12:102844297 [GRCh38]
Chr12:103238075 [GRCh37]
Chr12:12q23.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.1065+3A>C |
single nucleotide variant |
Phenylketonuria [RCV001269053]|not provided [RCV000088735] |
Chr12:102844333 [GRCh38]
Chr12:103238111 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.1(PAH):c.1065+3A>G |
single nucleotide variant |
not provided [RCV000088736] |
Chr12:102844333 [GRCh38]
Chr12:103238111 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1065+7C>A |
single nucleotide variant |
Phenylketonuria [RCV001269052]|not provided [RCV000088737] |
Chr12:102844329 [GRCh38]
Chr12:103238107 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1065+97G>A |
single nucleotide variant |
Phenylketonuria [RCV001269047]|not provided [RCV000088738] |
Chr12:102844239 [GRCh38]
Chr12:103238017 [GRCh37]
Chr12:12q23.2 |
benign|not provided |
| NM_000277.3(PAH):c.1066-14C>G |
single nucleotide variant |
Phenylketonuria [RCV001375895]|not provided [RCV000088739] |
Chr12:102843793 [GRCh38]
Chr12:103237571 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1066-1G>A |
single nucleotide variant |
Phenylketonuria [RCV001199985]|not provided [RCV000088740] |
Chr12:102843780 [GRCh38]
Chr12:103237558 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1066-31G>A |
single nucleotide variant |
Phenylketonuria [RCV000666911]|not provided [RCV000088741] |
Chr12:102843810 [GRCh38]
Chr12:103237588 [GRCh37]
Chr12:12q23.2 |
likely benign|not provided |
| NM_000277.1(PAH):c.1066-3C>T |
single nucleotide variant |
not provided [RCV000088742] |
Chr12:102843782 [GRCh38]
Chr12:103237560 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1066T>C (p.Tyr356His) |
single nucleotide variant |
Phenylketonuria [RCV001543652]|not provided [RCV000088743] |
Chr12:102843779 [GRCh38]
Chr12:103237557 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.2(PAH):c.1066_1067ins6 |
insertion |
not provided [RCV000088744] |
Chr12:102843778..102843779 [GRCh38]
Chr12:103237556..103237557 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1069T>G (p.Cys357Gly) |
single nucleotide variant |
Phenylketonuria [RCV001199978]|not provided [RCV000088746] |
Chr12:102843776 [GRCh38]
Chr12:103237554 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1084C>A (p.Pro362Thr) |
single nucleotide variant |
Phenylketonuria [RCV002514542]|not provided [RCV000088748] |
Chr12:102843761 [GRCh38]
Chr12:103237539 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1087_1088del (p.Lys363fs) |
deletion |
not provided [RCV000088749] |
Chr12:102843757..102843758 [GRCh38]
Chr12:103237535..103237536 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1089G>T (p.Lys363Asn) |
single nucleotide variant |
Phenylketonuria [RCV000668925]|not provided [RCV000088750] |
Chr12:102843756 [GRCh38]
Chr12:103237534 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1089del (p.Lys363fs) |
deletion |
Phenylketonuria [RCV000169397]|not provided [RCV000088751] |
Chr12:102843756 [GRCh38]
Chr12:103237534 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.1(PAH):c.1090_1092delCTT (p.Leu365del) |
deletion |
not provided [RCV000088752] |
Chr12:102843753..102843755 [GRCh38]
Chr12:103237531..103237533 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.1(PAH):c.1090_1104delCTTCTCCCCCTGGAG (p.Leu365_Leu369del) |
deletion |
not provided [RCV000088753] |
Chr12:102843741..102843755 [GRCh38]
Chr12:103237519..103237533 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1097C>A (p.Pro366His) |
single nucleotide variant |
Phenylketonuria [RCV000672118]|not provided [RCV000088754] |
Chr12:102843748 [GRCh38]
Chr12:103237526 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1099del (p.Leu367fs) |
deletion |
Phenylketonuria [RCV000781680]|not provided [RCV000088757] |
Chr12:102843746 [GRCh38]
Chr12:103237524 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1100T>C (p.Leu367Pro) |
single nucleotide variant |
Phenylketonuria [RCV000758106]|not provided [RCV000088758] |
Chr12:102843745 [GRCh38]
Chr12:103237523 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1101G>A (p.Leu367=) |
single nucleotide variant |
Phenylketonuria [RCV000758108]|not provided [RCV000088759] |
Chr12:102843744 [GRCh38]
Chr12:103237522 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.1112A>G (p.Lys371Arg) |
single nucleotide variant |
Phenylketonuria [RCV001543653]|not provided [RCV000088760] |
Chr12:102843733 [GRCh38]
Chr12:103237511 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) |
single nucleotide variant |
Phenylketonuria [RCV000306209]|not provided [RCV000088761] |
Chr12:102843731 [GRCh38]
Chr12:103237509 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1117G>A (p.Ala373Thr) |
single nucleotide variant |
Phenylketonuria [RCV002259583]|not provided [RCV000088762] |
Chr12:102843728 [GRCh38]
Chr12:103237506 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1117_1118del (p.Ala373fs) |
deletion |
Phenylketonuria [RCV001269038]|not provided [RCV000088763] |
Chr12:102843727..102843728 [GRCh38]
Chr12:103237505..103237506 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1127del (p.Asn376fs) |
deletion |
Phenylketonuria [RCV001857428]|not provided [RCV000088765] |
Chr12:102843718 [GRCh38]
Chr12:103237496 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.1(PAH):c.1129delT (p.Tyr377Thrfs) |
deletion |
not provided [RCV000088766] |
Chr12:102843716 [GRCh38]
Chr12:103237494 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys) |
single nucleotide variant |
Phenylketonuria [RCV002259584]|not provided [RCV000088767] |
Chr12:102843715 [GRCh38]
Chr12:103237493 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1132A>T (p.Thr378Ser) |
single nucleotide variant |
Phenylketonuria [RCV001200006]|not provided [RCV000088768] |
Chr12:102843713 [GRCh38]
Chr12:103237491 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1155= (p.Leu385=) |
single nucleotide variant |
Phenylketonuria [RCV001084011]|not provided [RCV000088769] |
Chr12:102843690 [GRCh38]
Chr12:103237468 [GRCh37]
Chr12:12q23.2 |
benign|not provided |
| NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp) |
single nucleotide variant |
Phenylketonuria [RCV001239036]|not provided [RCV000088770] |
Chr12:102843689 [GRCh38]
Chr12:103237467 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) |
single nucleotide variant |
PAH-related disorder [RCV004739362]|Phenylketonuria [RCV000169306]|Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV003162523]|not provided [RCV000088771] |
Chr12:102843688 [GRCh38]
Chr12:103237466 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1159T>C (p.Tyr387His) |
single nucleotide variant |
Malignant tumor of breast [RCV004542806]|Phenylketonuria [RCV001789754]|not provided [RCV000088772] |
Chr12:102843686 [GRCh38]
Chr12:103237464 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.1(PAH):c.115_117delTTC (p.Phe39del) |
deletion |
not provided [RCV000088773] |
Chr12:102912842..102912844 [GRCh38]
Chr12:103306620..103306622 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1162G>C (p.Val388Leu) |
single nucleotide variant |
Phenylketonuria [RCV001269277]|not provided [RCV000088775] |
Chr12:102843683 [GRCh38]
Chr12:103237461 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1163_1164del (p.Val388fs) |
deletion |
Phenylketonuria [RCV001269039]|not provided [RCV000088776] |
Chr12:102843681..102843682 [GRCh38]
Chr12:103237459..103237460 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1166del (p.Ala389fs) |
deletion |
Phenylketonuria [RCV000669467]|not provided [RCV000088777] |
Chr12:102843679 [GRCh38]
Chr12:103237457 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1175T>C (p.Phe392Ser) |
single nucleotide variant |
Phenylketonuria [RCV001269040]|not provided [RCV000088778] |
Chr12:102843670 [GRCh38]
Chr12:103237448 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1180G>C (p.Asp394His) |
single nucleotide variant |
Phenylketonuria [RCV000714571]|not provided [RCV000088779] |
Chr12:102843665 [GRCh38]
Chr12:103237443 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1181A>C (p.Asp394Ala) |
single nucleotide variant |
Phenylketonuria [RCV001789755]|not provided [RCV000088780]|not specified [RCV003323399] |
Chr12:102843664 [GRCh38]
Chr12:103237442 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.1183G>C (p.Ala395Pro) |
single nucleotide variant |
Phenylketonuria [RCV000781679]|not provided [RCV000088781] |
Chr12:102843662 [GRCh38]
Chr12:103237440 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1184C>A (p.Ala395Asp) |
single nucleotide variant |
Phenylketonuria [RCV002509213]|not provided [RCV000088782] |
Chr12:102843661 [GRCh38]
Chr12:103237439 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) |
single nucleotide variant |
Phenylketonuria [RCV000410586]|not provided [RCV000088783] |
Chr12:102843661 [GRCh38]
Chr12:103237439 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1194A>G (p.Lys398=) |
single nucleotide variant |
Phenylketonuria [RCV001269042]|not provided [RCV000088784] |
Chr12:102843651 [GRCh38]
Chr12:103237429 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1196_1199del (p.Val399fs) |
deletion |
Phenylketonuria [RCV002509214]|not provided [RCV000088785] |
Chr12:102843646..102843649 [GRCh38]
Chr12:103237424..103237427 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.1(PAH):c.1197A>T (p.Val399=) |
single nucleotide variant |
not provided [RCV000088786] |
Chr12:102843648 [GRCh38]
Chr12:103237426 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1198A>C (p.Arg400=) |
single nucleotide variant |
Phenylketonuria [RCV000671619]|not provided [RCV000088787]|not specified [RCV003479000] |
Chr12:102843647 [GRCh38]
Chr12:103237425 [GRCh37]
Chr12:12q23.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.1198del (p.Arg400fs) |
deletion |
Phenylketonuria [RCV000671992]|not provided [RCV000088788] |
Chr12:102843647 [GRCh38]
Chr12:103237425 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1199+17G>A |
single nucleotide variant |
Phenylketonuria [RCV000316500]|not provided [RCV000088789] |
Chr12:102843629 [GRCh38]
Chr12:103237407 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1199+1G>A |
single nucleotide variant |
Phenylketonuria [RCV000632882]|not provided [RCV000088790] |
Chr12:102843645 [GRCh38]
Chr12:103237423 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1199+1G>C |
single nucleotide variant |
Phenylketonuria [RCV000169248]|not provided [RCV000088791] |
Chr12:102843645 [GRCh38]
Chr12:103237423 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.1199+20G>C |
single nucleotide variant |
Phenylketonuria [RCV002513932]|not provided [RCV000088792] |
Chr12:102843626 [GRCh38]
Chr12:103237404 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1199+2T>C |
single nucleotide variant |
not provided [RCV000088793] |
Chr12:102843644 [GRCh38]
Chr12:103237422 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1199+5G>T |
single nucleotide variant |
Phenylketonuria [RCV001269037]|not provided [RCV000088794] |
Chr12:102843641 [GRCh38]
Chr12:103237419 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1199G>A (p.Arg400Lys) |
single nucleotide variant |
Phenylketonuria [RCV000672156]|not provided [RCV000088795] |
Chr12:102843646 [GRCh38]
Chr12:103237424 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1199G>C (p.Arg400Thr) |
single nucleotide variant |
Phenylketonuria [RCV001543634]|not provided [RCV000088796] |
Chr12:102843646 [GRCh38]
Chr12:103237424 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.119C>T (p.Ser40Leu) |
single nucleotide variant |
not provided [RCV000088797] |
Chr12:102912840 [GRCh38]
Chr12:103306618 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.1(PAH):c.1200-1delG |
deletion |
Phenylketonuria [RCV002509215]|not provided [RCV000088798] |
Chr12:102840515 [GRCh38]
Chr12:103234293 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1200-8G>A |
single nucleotide variant |
Phenylketonuria [RCV000525956]|not provided [RCV000088799] |
Chr12:102840523 [GRCh38]
Chr12:103234301 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.1204T>C (p.Phe402Leu) |
single nucleotide variant |
Phenylketonuria [RCV001269043]|not provided [RCV000088800] |
Chr12:102840511 [GRCh38]
Chr12:103234289 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1217T>C (p.Ile406Thr) |
single nucleotide variant |
Phenylketonuria [RCV000758128]|not provided [RCV000088801] |
Chr12:102840498 [GRCh38]
Chr12:103234276 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1219C>T (p.Pro407Ser) |
single nucleotide variant |
Phenylketonuria [RCV000672236]|not provided [RCV000088802] |
Chr12:102840496 [GRCh38]
Chr12:103234274 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.121C>T (p.Leu41Phe) |
single nucleotide variant |
Phenylketonuria [RCV000697659]|not provided [RCV000088803] |
Chr12:102912838 [GRCh38]
Chr12:103306616 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1220del (p.Pro407fs) |
deletion |
not provided [RCV000088805] |
Chr12:102840495 [GRCh38]
Chr12:103234273 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1229T>C (p.Phe410Ser) |
single nucleotide variant |
Phenylketonuria [RCV000665363]|not provided [RCV000088807] |
Chr12:102840486 [GRCh38]
Chr12:103234264 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1229T>G (p.Phe410Cys) |
single nucleotide variant |
Phenylketonuria [RCV001269318]|not provided [RCV000088808] |
Chr12:102840486 [GRCh38]
Chr12:103234264 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.122T>C (p.Leu41Pro) |
single nucleotide variant |
Phenylketonuria [RCV001093507]|not provided [RCV000088809] |
Chr12:102912837 [GRCh38]
Chr12:103306615 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1232C>A (p.Ser411Ter) |
single nucleotide variant |
Phenylketonuria [RCV002509216]|not provided [RCV000088810] |
Chr12:102840483 [GRCh38]
Chr12:103234261 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1237C>A (p.Arg413Ser) |
single nucleotide variant |
Phenylketonuria [RCV001380994]|not provided [RCV000088811] |
Chr12:102840478 [GRCh38]
Chr12:103234256 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1237C>T (p.Arg413Cys) |
single nucleotide variant |
PAH-related disorder [RCV003415874]|Phenylketonuria [RCV001269321]|not provided [RCV000088812] |
Chr12:102840478 [GRCh38]
Chr12:103234256 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1242C>T (p.Tyr414=) |
single nucleotide variant |
Phenylketonuria [RCV000541061]|not provided [RCV000088814]|not specified [RCV000174235] |
Chr12:102840473 [GRCh38]
Chr12:103234251 [GRCh37]
Chr12:12q23.2 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.1249T>A (p.Tyr417Asn) |
single nucleotide variant |
not provided [RCV000088816] |
Chr12:102840466 [GRCh38]
Chr12:103234244 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1249T>C (p.Tyr417His) |
single nucleotide variant |
not provided [RCV000088817] |
Chr12:102840466 [GRCh38]
Chr12:103234244 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1252A>C (p.Thr418Pro) |
single nucleotide variant |
Phenylketonuria [RCV000672448]|not provided [RCV000088818] |
Chr12:102840463 [GRCh38]
Chr12:103234241 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.125A>T (p.Lys42Ile) |
single nucleotide variant |
Phenylketonuria [RCV000993605]|not provided [RCV000088819] |
Chr12:102912834 [GRCh38]
Chr12:103306612 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1262T>C (p.Ile421Thr) |
single nucleotide variant |
Phenylketonuria [RCV001388783]|not provided [RCV000088820] |
Chr12:102840453 [GRCh38]
Chr12:103234231 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1264G>A (p.Glu422Lys) |
single nucleotide variant |
Phenylketonuria [RCV001199987]|not provided [RCV000088821] |
Chr12:102840451 [GRCh38]
Chr12:103234229 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1271T>C (p.Leu424Ser) |
single nucleotide variant |
Phenylketonuria [RCV000993606]|not provided [RCV000088822] |
Chr12:102840444 [GRCh38]
Chr12:103234222 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1289T>C (p.Leu430Pro) |
single nucleotide variant |
Phenylketonuria [RCV001789756]|not provided [RCV000088824] |
Chr12:102840426 [GRCh38]
Chr12:103234204 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1301C>A (p.Ala434Asp) |
single nucleotide variant |
Phenylketonuria [RCV000169393]|not provided [RCV000088825] |
Chr12:102840414 [GRCh38]
Chr12:103234192 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.1(PAH):c.130_132delGAA (p.Glu44del) |
deletion |
not provided [RCV000088826] |
Chr12:102912827..102912829 [GRCh38]
Chr12:103306605..103306607 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1315+2T>C |
single nucleotide variant |
Phenylketonuria [RCV000169029]|not provided [RCV000088827] |
Chr12:102840398 [GRCh38]
Chr12:103234176 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1315+4A>G |
single nucleotide variant |
Phenylketonuria [RCV000672561]|not provided [RCV000088828] |
Chr12:102840396 [GRCh38]
Chr12:103234174 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1315+6T>A |
single nucleotide variant |
PAH-related disorder [RCV004724807]|Phenylketonuria [RCV000668481]|not provided [RCV000088829] |
Chr12:102840394 [GRCh38]
Chr12:103234172 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1316-15T>C |
single nucleotide variant |
not provided [RCV000088830] |
Chr12:102839233 [GRCh38]
Chr12:103233011 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1316-35C>T |
single nucleotide variant |
Phenylketonuria [RCV001199990]|not provided [RCV000088831]|not specified [RCV000251588] |
Chr12:102839253 [GRCh38]
Chr12:103233031 [GRCh37]
Chr12:12q23.2 |
benign|not provided |
| NM_000277.3(PAH):c.1316-5T>C |
single nucleotide variant |
not provided [RCV000088832]|not specified [RCV000423424] |
Chr12:102839223 [GRCh38]
Chr12:103233001 [GRCh37]
Chr12:12q23.2 |
likely benign|not provided |
| NM_000277.3(PAH):c.125AAG[2] (p.Glu44del) |
microsatellite |
Phenylketonuria [RCV000666206]|not provided [RCV000088833] |
Chr12:102912826..102912828 [GRCh38]
Chr12:103306604..103306606 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.1340C>A (p.Ala447Asp) |
single nucleotide variant |
PAH-related disorder [RCV003407485]|Phenylketonuria [RCV000632880]|not provided [RCV000088834] |
Chr12:102839194 [GRCh38]
Chr12:103232972 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.137del (p.Gly46fs) |
deletion |
Phenylketonuria [RCV000993607]|not provided [RCV000088837] |
Chr12:102912822 [GRCh38]
Chr12:103306600 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.140C>A (p.Ala47Glu) |
single nucleotide variant |
not provided [RCV000088838] |
Chr12:102912819 [GRCh38]
Chr12:103306597 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.155T>C (p.Leu52Ser) |
single nucleotide variant |
Phenylketonuria [RCV001389300]|not provided [RCV000088840] |
Chr12:102912804 [GRCh38]
Chr12:103306582 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.157C>T (p.Arg53Cys) |
single nucleotide variant |
PAH-related disorder [RCV004739363]|Phenylketonuria [RCV000664566]|not provided [RCV000088841]|not specified [RCV002281929] |
Chr12:102912802 [GRCh38]
Chr12:103306580 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.158G>A (p.Arg53His) |
single nucleotide variant |
PAH-related disorder [RCV003398704]|Phenylketonuria [RCV000490373]|not provided [RCV000088842]|not specified [RCV001175359] |
Chr12:102912801 [GRCh38]
Chr12:102912801..102912802 [GRCh38]
Chr12:103306579 [GRCh37]
Chr12:103306579..103306580 [GRCh37]
Chr12:12q23.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.161T>C (p.Leu54Ser) |
single nucleotide variant |
Phenylketonuria [RCV000669099]|not provided [RCV000088843]|not specified [RCV004586550] |
Chr12:102912798 [GRCh38]
Chr12:103306576 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.163_165del (p.Phe55del) |
deletion |
Phenylketonuria [RCV002509217]|not provided [RCV000088844] |
Chr12:102912794..102912796 [GRCh38]
Chr12:103306572..103306574 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.168+1G>A |
single nucleotide variant |
Phenylketonuria [RCV000169163]|not provided [RCV000088846] |
Chr12:102912790 [GRCh38]
Chr12:103306568 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.168+5G>A |
single nucleotide variant |
Phenylketonuria [RCV000666582]|not provided [RCV000088847] |
Chr12:102912786 [GRCh38]
Chr12:103306564 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.168+5G>C |
single nucleotide variant |
Hyperphenylalaninemia [RCV004798775]|Phenylketonuria [RCV000350592]|not provided [RCV000088848] |
Chr12:102912786 [GRCh38]
Chr12:103306564 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.168+5G>T |
single nucleotide variant |
Phenylketonuria [RCV000993608]|not provided [RCV000088849] |
Chr12:102912786 [GRCh38]
Chr12:103306564 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.168+6T>G |
single nucleotide variant |
Phenylketonuria [RCV000993609]|not provided [RCV000088850] |
Chr12:102912785 [GRCh38]
Chr12:103306563 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.168G>A (p.Glu56=) |
single nucleotide variant |
Phenylketonuria [RCV001093508]|not provided [RCV000088851]|not specified [RCV000249357] |
Chr12:102912791 [GRCh38]
Chr12:103306569 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance|not provided |
| NM_000277.3(PAH):c.168G>T (p.Glu56Asp) |
single nucleotide variant |
Phenylketonuria [RCV001543635]|not provided [RCV000088852] |
Chr12:102912791 [GRCh38]
Chr12:103306569 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.169-13T>G |
single nucleotide variant |
Phenylketonuria [RCV000778351]|not provided [RCV000088853] |
Chr12:102894931 [GRCh38]
Chr12:103288709 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.1(PAH):c.169-?_352+?del |
deletion |
not provided [RCV000088854] |
|
not provided |
| NM_000277.3(PAH):c.169_171del |
deletion |
Phenylketonuria [RCV000993610]|not provided [RCV000088855] |
Chr12:102894916..102894918 [GRCh38]
Chr12:103288694..103288696 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.1(PAH):c.169_352del184 (p.Glu57Cysfs) |
deletion |
not provided [RCV000088856] |
Chr12:102894735..102894918 [GRCh38]
Chr12:103288513..103288696 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.175G>T (p.Asp59Tyr) |
single nucleotide variant |
Phenylketonuria [RCV002259585]|not provided [RCV000088857] |
Chr12:102894912 [GRCh38]
Chr12:103288690 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.176A>G (p.Asp59Gly) |
single nucleotide variant |
Phenylketonuria [RCV000758114]|not provided [RCV000088858] |
Chr12:102894911 [GRCh38]
Chr12:103288689 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.181A>G (p.Asn61Asp) |
single nucleotide variant |
Phenylketonuria [RCV001389299]|not provided [RCV000088859]|not specified [RCV004689608] |
Chr12:102894906 [GRCh38]
Chr12:103288684 [GRCh37]
Chr12:12q23.2 |
pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.183C>G (p.Asn61Lys) |
single nucleotide variant |
Phenylketonuria [RCV001199974]|not provided [RCV000088860] |
Chr12:102894904 [GRCh38]
Chr12:103288682 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.187A>C (p.Thr63Pro) |
single nucleotide variant |
Phenylketonuria [RCV000758120]|not provided [RCV000088861] |
Chr12:102894900 [GRCh38]
Chr12:103288678 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.190C>A (p.His64Asn) |
single nucleotide variant |
Phenylketonuria [RCV000758122]|not provided [RCV000088862] |
Chr12:102894897 [GRCh38]
Chr12:103288675 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.190del (p.His64fs) |
deletion |
Phenylketonuria [RCV001269036]|not provided [RCV000088863] |
Chr12:102894897 [GRCh38]
Chr12:103288675 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.193A>G (p.Ile65Val) |
single nucleotide variant |
Phenylketonuria [RCV000803656]|not provided [RCV000088864] |
Chr12:102894894 [GRCh38]
Chr12:103288672 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.194T>A (p.Ile65Asn) |
single nucleotide variant |
Phenylketonuria [RCV000758100]|not provided [RCV000088865] |
Chr12:102894893 [GRCh38]
Chr12:103288671 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.194T>G (p.Ile65Ser) |
single nucleotide variant |
not provided [RCV000088866] |
Chr12:102894893 [GRCh38]
Chr12:103288671 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.199T>C (p.Ser67Pro) |
single nucleotide variant |
Phenylketonuria [RCV001260324]|not provided [RCV000088867] |
Chr12:102894888 [GRCh38]
Chr12:103288666 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Phenylketonuria [RCV000993611]|not provided [RCV000088869] |
Chr12:102917130 [GRCh38]
Chr12:103310908 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.202A>G (p.Arg68Gly) |
single nucleotide variant |
Phenylketonuria [RCV001543636]|not provided [RCV000088870] |
Chr12:102894885 [GRCh38]
Chr12:103288663 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.205C>T (p.Pro69Ser) |
single nucleotide variant |
Phenylketonuria [RCV003315609]|not provided [RCV000088871] |
Chr12:102894882 [GRCh38]
Chr12:103288660 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.1(PAH):c.206_208delCTT (p.Ser70del) |
deletion |
not provided [RCV000088872] |
Chr12:102894879..102894881 [GRCh38]
Chr12:103288657..103288659 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.1(PAH):c.207_209delTTC (p.Ser70del) |
deletion |
not provided [RCV000088873] |
Chr12:102894878..102894880 [GRCh38]
Chr12:103288656..103288658 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.208T>C (p.Ser70Pro) |
single nucleotide variant |
Phenylketonuria [RCV002259586]|not provided [RCV000088874] |
Chr12:102894879 [GRCh38]
Chr12:103288657 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.208_210del (p.Ser70del) |
deletion |
Phenylketonuria [RCV000411181]|not provided [RCV000088875] |
Chr12:102894877..102894879 [GRCh38]
Chr12:103288655..103288657 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.212G>A (p.Arg71His) |
single nucleotide variant |
PAH-related disorder [RCV003407486]|Phenylketonuria [RCV000672919]|not provided [RCV000088876] |
Chr12:102894875 [GRCh38]
Chr12:103288653 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.227A>C (p.Glu76Ala) |
single nucleotide variant |
Phenylketonuria [RCV001389298]|not provided [RCV000088877] |
Chr12:102894860 [GRCh38]
Chr12:103288638 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.231T>G (p.Tyr77Ter) |
single nucleotide variant |
Phenylketonuria [RCV003479001]|not provided [RCV000088879] |
Chr12:102894856 [GRCh38]
Chr12:103288634 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.232G>A (p.Glu78Lys) |
single nucleotide variant |
Phenylketonuria [RCV001857429]|not provided [RCV000088880] |
Chr12:102894855 [GRCh38]
Chr12:103288633 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.241A>C (p.Thr81Pro) |
single nucleotide variant |
Phenylketonuria [RCV001192889]|not provided [RCV000088881] |
Chr12:102894846 [GRCh38]
Chr12:103288624 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.241_256del (p.Thr81fs) |
deletion |
Phenylketonuria [RCV001269056]|not provided [RCV000088882] |
Chr12:102894831..102894846 [GRCh38]
Chr12:103288609..103288624 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.250G>T (p.Asp84Tyr) |
single nucleotide variant |
Hyperphenylalaninemia [RCV004798776]|Phenylketonuria [RCV000761308]|not provided [RCV000088883] |
Chr12:102894837 [GRCh38]
Chr12:103288615 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.265C>T (p.Pro89Ser) |
single nucleotide variant |
Phenylketonuria [RCV001857430]|not provided [RCV000088886] |
Chr12:102894822 [GRCh38]
Chr12:103288600 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.275C>T (p.Thr92Ile) |
single nucleotide variant |
Phenylketonuria [RCV001854512]|not provided [RCV000088888] |
Chr12:102894812 [GRCh38]
Chr12:103288590 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.281T>G (p.Ile94Ser) |
single nucleotide variant |
Phenylketonuria [RCV000673537]|not provided [RCV000088889] |
Chr12:102894806 [GRCh38]
Chr12:103288584 [GRCh37]
Chr12:12q23.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.283A>T (p.Ile95Phe) |
single nucleotide variant |
Phenylketonuria [RCV000763292]|not provided [RCV000088890] |
Chr12:102894804 [GRCh38]
Chr12:103288582 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.1(PAH):c.283_285delATC (p.Ile95del) |
deletion |
not provided [RCV000088891] |
Chr12:102894802..102894804 [GRCh38]
Chr12:103288580..103288582 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.2T>G (p.Met1Arg) |
single nucleotide variant |
Phenylketonuria [RCV000993612]|not provided [RCV000088893] |
Chr12:102917129 [GRCh38]
Chr12:103310907 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.305T>C (p.Ile102Thr) |
single nucleotide variant |
Phenylketonuria [RCV001580454]|not provided [RCV000088894] |
Chr12:102894782 [GRCh38]
Chr12:103288560 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.30C>G (p.Gly10=) |
single nucleotide variant |
Inborn genetic diseases [RCV002321585]|Phenylketonuria [RCV000779088]|not provided [RCV000088895]|not specified [RCV001844038] |
Chr12:102917101 [GRCh38]
Chr12:103310879 [GRCh37]
Chr12:12q23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.311C>A (p.Ala104Asp) |
single nucleotide variant |
PAH-related disorder [RCV003915115]|Phenylketonuria [RCV000349567]|not provided [RCV000088896] |
Chr12:102894776 [GRCh38]
Chr12:103288554 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.329C>T (p.Ser110Leu) |
single nucleotide variant |
Phenylketonuria [RCV002259587]|not provided [RCV000088897]|not specified [RCV004689609] |
Chr12:102894758 [GRCh38]
Chr12:103288536 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.344_347del (p.Lys115fs) |
microsatellite |
Phenylketonuria [RCV001175457]|not provided [RCV000088899] |
Chr12:102894740..102894743 [GRCh38]
Chr12:103288518..103288521 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.352+1G>A |
single nucleotide variant |
Phenylketonuria [RCV002509218]|not provided [RCV000088900] |
Chr12:102894734 [GRCh38]
Chr12:103288512 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.353-22C>T |
single nucleotide variant |
Phenylketonuria [RCV001199988]|not provided [RCV000088901]|not specified [RCV000254369] |
Chr12:102877572 [GRCh38]
Chr12:103271350 [GRCh37]
Chr12:12q23.2 |
benign|not provided |
| NM_000277.3(PAH):c.353-6T>A |
single nucleotide variant |
Phenylketonuria [RCV001269055]|not provided [RCV000088902] |
Chr12:102877556 [GRCh38]
Chr12:103271334 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.359G>A (p.Trp120Ter) |
single nucleotide variant |
Phenylketonuria [RCV001199994]|not provided [RCV000088903] |
Chr12:102877544 [GRCh38]
Chr12:103271322 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.365C>A (p.Pro122Gln) |
single nucleotide variant |
Phenylketonuria [RCV001384288]|not provided [RCV000088904] |
Chr12:102877538 [GRCh38]
Chr12:103271316 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.368G>T (p.Arg123Ile) |
single nucleotide variant |
Phenylketonuria [RCV000666513]|not provided [RCV000088905] |
Chr12:102877535 [GRCh38]
Chr12:103271313 [GRCh37]
Chr12:12q23.2 |
pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.371C>T (p.Thr124Ile) |
single nucleotide variant |
not provided [RCV000088906] |
Chr12:102877532 [GRCh38]
Chr12:103271310 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.385G>T (p.Asp129Tyr) |
single nucleotide variant |
Phenylketonuria [RCV000811501]|not provided [RCV000088907] |
Chr12:102877518 [GRCh38]
Chr12:103271296 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.386A>G (p.Asp129Gly) |
single nucleotide variant |
Phenylketonuria [RCV000672629]|not provided [RCV000088908] |
Chr12:102877517 [GRCh38]
Chr12:103271295 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.386A>T (p.Asp129Val) |
single nucleotide variant |
Phenylketonuria [RCV001093517]|not provided [RCV000088909] |
Chr12:102877517 [GRCh38]
Chr12:103271295 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.398_401del (p.Asn133fs) |
deletion |
Phenylketonuria [RCV000531628]|not provided [RCV000088910] |
Chr12:102877502..102877505 [GRCh38]
Chr12:103271280..103271283 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.400C>T (p.Gln134Ter) |
single nucleotide variant |
Phenylketonuria [RCV000169559]|not provided [RCV000088912] |
Chr12:102877503 [GRCh38]
Chr12:103271281 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.411C>T (p.Ser137=) |
single nucleotide variant |
Phenylketonuria [RCV001114784]|not provided [RCV000088913] |
Chr12:102877492 [GRCh38]
Chr12:103271270 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.428A>G (p.Asp143Gly) |
single nucleotide variant |
Phenylketonuria [RCV001209954]|not provided [RCV000088914] |
Chr12:102877475 [GRCh38]
Chr12:103271253 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.434A>T (p.Asp145Val) |
single nucleotide variant |
PAH-related disorder [RCV003925098]|Phenylketonuria [RCV000546355]|See cases [RCV002251980]|not provided [RCV000088915] |
Chr12:102877469 [GRCh38]
Chr12:103271247 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.436C>T (p.His146Tyr) |
single nucleotide variant |
not provided [RCV000088916] |
Chr12:102877467 [GRCh38]
Chr12:103271245 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.439C>T (p.Pro147Ser) |
single nucleotide variant |
Phenylketonuria [RCV000674963]|not provided [RCV000088917] |
Chr12:102877464 [GRCh38]
Chr12:103271242 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.440C>T (p.Pro147Leu) |
single nucleotide variant |
Phenylketonuria [RCV000595460]|not provided [RCV000088918] |
Chr12:102877463 [GRCh38]
Chr12:103271241 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.441+1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002515782]|Phenylketonuria [RCV000169579]|not provided [RCV000088919] |
Chr12:102877461 [GRCh38]
Chr12:103271239 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.441+3G>C |
single nucleotide variant |
Phenylketonuria [RCV000665892]|not provided [RCV000088920] |
Chr12:102877459 [GRCh38]
Chr12:103271237 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.441+47C>T |
single nucleotide variant |
Phenylketonuria [RCV001533426]|not provided [RCV000088921]|not specified [RCV000244724] |
Chr12:102877415 [GRCh38]
Chr12:103271193 [GRCh37]
Chr12:12q23.2 |
benign|likely benign|not provided |
| NM_000277.3(PAH):c.441+4A>G |
single nucleotide variant |
Phenylketonuria [RCV000669322]|not provided [RCV000088922] |
Chr12:102877458 [GRCh38]
Chr12:103271236 [GRCh37]
Chr12:12q23.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.441+6T>C |
single nucleotide variant |
Phenylketonuria [RCV001789757]|not provided [RCV000088923] |
Chr12:102877456 [GRCh38]
Chr12:103271234 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.1(PAH):c.442-1G>A |
single nucleotide variant |
not provided [RCV000088924] |
Chr12:102866664 [GRCh38]
Chr12:103260442 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.442-5C>G |
single nucleotide variant |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency [RCV002222393]|Phenylketonuria [RCV000801016]|not provided [RCV000088925] |
Chr12:102866668 [GRCh38]
Chr12:103260446 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.1(PAH):c.442-?_509+?del |
deletion |
not provided [RCV000088926] |
|
not provided |
| NM_000277.3(PAH):c.442G>A (p.Gly148Ser) |
single nucleotide variant |
PAH-related disorder [RCV003894944]|Phenylketonuria [RCV001053534]|not provided [RCV000088928] |
Chr12:102866663 [GRCh38]
Chr12:103260441 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.443_509+1del |
deletion |
Phenylketonuria [RCV001375901]|not provided [RCV000088929] |
Chr12:102866595..102866662 [GRCh38]
Chr12:103260373..103260440 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.451G>C (p.Asp151His) |
single nucleotide variant |
not provided [RCV000088930] |
Chr12:102866654 [GRCh38]
Chr12:103260432 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.452A>G (p.Asp151Gly) |
single nucleotide variant |
not provided [RCV000088931] |
Chr12:102866653 [GRCh38]
Chr12:103260431 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.460T>A (p.Tyr154Asn) |
single nucleotide variant |
Phenylketonuria [RCV001093515]|not provided [RCV000088932] |
Chr12:102866645 [GRCh38]
Chr12:103260423 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.460T>C (p.Tyr154His) |
single nucleotide variant |
Phenylketonuria [RCV001093509]|not provided [RCV000088933] |
Chr12:102866645 [GRCh38]
Chr12:103260423 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.464G>A (p.Arg155His) |
single nucleotide variant |
Phenylketonuria [RCV000632881]|not provided [RCV000088934] |
Chr12:102866641 [GRCh38]
Chr12:103260419 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.464G>C (p.Arg155Pro) |
single nucleotide variant |
Phenylketonuria [RCV000675156]|not provided [RCV000088935] |
Chr12:102866641 [GRCh38]
Chr12:103260419 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.466G>C (p.Ala156Pro) |
single nucleotide variant |
Phenylketonuria [RCV003479002]|not provided [RCV000088936] |
Chr12:102866639 [GRCh38]
Chr12:103260417 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.46T>C (p.Ser16Pro) |
single nucleotide variant |
Phenylketonuria [RCV000993613]|not provided [RCV000088937] |
Chr12:102917085 [GRCh38]
Chr12:103310863 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.470G>A (p.Arg157Lys) |
single nucleotide variant |
not provided [RCV000088938] |
Chr12:102866635 [GRCh38]
Chr12:103260413 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.470G>T (p.Arg157Ile) |
single nucleotide variant |
Phenylketonuria [RCV002513933]|not provided [RCV000088939] |
Chr12:102866635 [GRCh38]
Chr12:103260413 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.471A>C (p.Arg157Ser) |
single nucleotide variant |
not provided [RCV000088940] |
Chr12:102866634 [GRCh38]
Chr12:103260412 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.472C>T (p.Arg158Trp) |
single nucleotide variant |
Phenylketonuria [RCV000409986]|not provided [RCV000088941] |
Chr12:102866633 [GRCh38]
Chr12:103260411 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.473G>C (p.Arg158Pro) |
single nucleotide variant |
Phenylketonuria [RCV000758092]|not provided [RCV000088942] |
Chr12:102866632 [GRCh38]
Chr12:103260410 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.479A>C (p.Gln160Pro) |
single nucleotide variant |
not provided [RCV000088943] |
Chr12:102866626 [GRCh38]
Chr12:103260404 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) |
microsatellite |
Phenylketonuria [RCV000153638]|not provided [RCV000088944] |
Chr12:102917083..102917084 [GRCh38]
Chr12:103310861..103310862 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| NM_000277.3(PAH):c.482T>C (p.Phe161Ser) |
single nucleotide variant |
Phenylketonuria [RCV000674841]|not provided [RCV000088945] |
Chr12:102866623 [GRCh38]
Chr12:103260401 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.490A>G (p.Ile164Val) |
single nucleotide variant |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency [RCV003114254]|Phenylketonuria [RCV000535090]|See cases [RCV002251981]|not provided [RCV000088946] |
Chr12:102866615 [GRCh38]
Chr12:103260393 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.491T>C (p.Ile164Thr) |
single nucleotide variant |
Phenylketonuria [RCV002514543]|not provided [RCV000088947] |
Chr12:102866614 [GRCh38]
Chr12:103260392 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.493G>A (p.Ala165Thr) |
single nucleotide variant |
Phenylketonuria [RCV000993614]|not provided [RCV000088948] |
Chr12:102866612 [GRCh38]
Chr12:103260390 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.493G>C (p.Ala165Pro) |
single nucleotide variant |
Phenylketonuria [RCV000672775]|not provided [RCV000088949] |
Chr12:102866612 [GRCh38]
Chr12:103260390 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.498C>A (p.Tyr166Ter) |
single nucleotide variant |
Phenylketonuria [RCV000993615]|not provided [RCV000088950] |
Chr12:102866607 [GRCh38]
Chr12:103260385 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.500A>G (p.Asn167Ser) |
single nucleotide variant |
Phenylketonuria [RCV000148722]|not provided [RCV000088951] |
Chr12:102866605 [GRCh38]
Chr12:103260383 [GRCh37]
Chr12:12q23.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.502T>C (p.Tyr168His) |
single nucleotide variant |
not provided [RCV000088952] |
Chr12:102866603 [GRCh38]
Chr12:103260381 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.503del (p.Tyr168fs) |
deletion |
Phenylketonuria [RCV000375882]|not provided [RCV000088953] |
Chr12:102866602 [GRCh38]
Chr12:103260380 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.506G>A (p.Arg169His) |
single nucleotide variant |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency [RCV001530926]|Inborn genetic diseases [RCV002515783]|Phenylketonuria [RCV000311018]|Pulmonary hypertension, primary, 1 [RCV003987362]|not provided [RCV000088954] |
Chr12:102866599 [GRCh38]
Chr12:103260377 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.509+1G>A |
single nucleotide variant |
Phenylketonuria [RCV001057888]|not provided [RCV000088955] |
Chr12:102866595 [GRCh38]
Chr12:103260373 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.509+1del |
deletion |
not provided [RCV000088956] |
Chr12:102866595 [GRCh38]
Chr12:103260373 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.509+54C>G |
single nucleotide variant |
not provided [RCV000088957] |
Chr12:102866542 [GRCh38]
Chr12:103260320 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.509+5del |
deletion |
not provided [RCV000088958] |
Chr12:102866591 [GRCh38]
Chr12:103260369 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.509A>G (p.His170Arg) |
single nucleotide variant |
not provided [RCV000088959] |
Chr12:102866596 [GRCh38]
Chr12:103260374 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.510-54G>A |
single nucleotide variant |
Phenylketonuria [RCV001199989]|not provided [RCV000088960] |
Chr12:102855386 [GRCh38]
Chr12:103249164 [GRCh37]
Chr12:12q23.2 |
benign|not provided |
| NM_000277.3(PAH):c.510-6T>A |
single nucleotide variant |
not provided [RCV000088961] |
Chr12:102855338 [GRCh38]
Chr12:103249116 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.510-6T>G |
single nucleotide variant |
Phenylketonuria [RCV001269312]|not provided [RCV000088962] |
Chr12:102855338 [GRCh38]
Chr12:103249116 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.510T>A (p.His170Gln) |
single nucleotide variant |
Phenylketonuria [RCV001048510]|not provided [RCV000088963] |
Chr12:102855332 [GRCh38]
Chr12:103249110 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.511G>A (p.Gly171Arg) |
single nucleotide variant |
Phenylketonuria [RCV000560269]|not provided [RCV000088964] |
Chr12:102855331 [GRCh38]
Chr12:103249109 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.512G>C (p.Gly171Ala) |
single nucleotide variant |
Phenylketonuria [RCV003474692]|not provided [RCV000088965] |
Chr12:102855330 [GRCh38]
Chr12:103249108 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.514C>T (p.Gln172Ter) |
single nucleotide variant |
Phenylketonuria [RCV001238801]|not provided [RCV000088966] |
Chr12:102855328 [GRCh38]
Chr12:103249106 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.517C>A (p.Pro173Thr) |
single nucleotide variant |
not provided [RCV000088967] |
Chr12:102855325 [GRCh38]
Chr12:103249103 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.520A>G (p.Ile174Val) |
single nucleotide variant |
Phenylketonuria [RCV000675155]|not provided [RCV000088968] |
Chr12:102855322 [GRCh38]
Chr12:103249100 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.521T>C (p.Ile174Thr) |
single nucleotide variant |
Phenylketonuria [RCV000993616]|not provided [RCV000088969] |
Chr12:102855321 [GRCh38]
Chr12:103249099 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.523C>G (p.Pro175Ala) |
single nucleotide variant |
Phenylketonuria [RCV001093516]|not provided [RCV000088970] |
Chr12:102855319 [GRCh38]
Chr12:103249097 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.526C>T (p.Arg176Ter) |
single nucleotide variant |
Phenylketonuria [RCV000179282]|not provided [RCV000088971] |
Chr12:102855316 [GRCh38]
Chr12:103249094 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.527G>A (p.Arg176Gln) |
single nucleotide variant |
Phenylketonuria [RCV000810165]|not provided [RCV000088972] |
Chr12:102855315 [GRCh38]
Chr12:103249093 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.527G>C (p.Arg176Pro) |
single nucleotide variant |
Phenylketonuria [RCV001854513]|not provided [RCV000088973] |
Chr12:102855315 [GRCh38]
Chr12:103249093 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.529G>A (p.Val177Met) |
single nucleotide variant |
Hyperphenylalaninemia [RCV000589313]|PAH-related disorder [RCV003905086]|Phenylketonuria [RCV000534379]|not provided [RCV000088975] |
Chr12:102855313 [GRCh38]
Chr12:103249091 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.529G>C (p.Val177Leu) |
single nucleotide variant |
PAH-related disorder [RCV003390790]|Phenylketonuria [RCV000669836]|not provided [RCV000088976] |
Chr12:102855313 [GRCh38]
Chr12:103249091 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.533A>T (p.Glu178Val) |
single nucleotide variant |
not provided [RCV000088977] |
Chr12:102855309 [GRCh38]
Chr12:103249087 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.535T>A (p.Tyr179Asn) |
single nucleotide variant |
Phenylketonuria [RCV000721182]|not provided [RCV000088978] |
Chr12:102855307 [GRCh38]
Chr12:103249085 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.535T>C (p.Tyr179His) |
single nucleotide variant |
Phenylketonuria [RCV001778707]|not provided [RCV000088979] |
Chr12:102855307 [GRCh38]
Chr12:103249085 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.545A>G (p.Glu182Gly) |
single nucleotide variant |
Phenylketonuria [RCV001248714]|not provided [RCV000088980] |
Chr12:102855297 [GRCh38]
Chr12:103249075 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.547G>C (p.Glu183Gln) |
single nucleotide variant |
not provided [RCV000088981] |
Chr12:102855295 [GRCh38]
Chr12:103249073 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.556del (p.Thr186fs) |
deletion |
Phenylketonuria [RCV000586383]|not provided [RCV000088982] |
Chr12:102855286 [GRCh38]
Chr12:103249064 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.558_559del (p.Trp187fs) |
deletion |
Phenylketonuria [RCV000412455]|not provided [RCV000088983] |
Chr12:102855283..102855284 [GRCh38]
Chr12:103249061..103249062 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.559T>C (p.Trp187Arg) |
single nucleotide variant |
Phenylketonuria [RCV000671079]|not provided [RCV000088984] |
Chr12:102855283 [GRCh38]
Chr12:103249061 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.561G>A (p.Trp187Ter) |
single nucleotide variant |
PAH-related disorder [RCV004739364]|Phenylketonuria [RCV000169529]|not provided [RCV000088985] |
Chr12:102855281 [GRCh38]
Chr12:103249059 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.561G>C (p.Trp187Cys) |
single nucleotide variant |
Phenylketonuria [RCV000668474]|not provided [RCV000088986] |
Chr12:102855281 [GRCh38]
Chr12:103249059 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.563G>A (p.Gly188Asp) |
single nucleotide variant |
Phenylketonuria [RCV000674846]|not provided [RCV000088987] |
Chr12:102855279 [GRCh38]
Chr12:103249057 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.563del (p.Gly188fs) |
deletion |
Phenylketonuria [RCV001389168]|not provided [RCV000088988] |
Chr12:102855279 [GRCh38]
Chr12:103249057 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.569T>C (p.Val190Ala) |
single nucleotide variant |
Phenylketonuria [RCV000632878]|not provided [RCV000088989] |
Chr12:102855273 [GRCh38]
Chr12:103249051 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.580_581del (p.Leu194fs) |
microsatellite |
Phenylketonuria [RCV000169180]|not provided [RCV000088990] |
Chr12:102855261..102855262 [GRCh38]
Chr12:103249039..103249040 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.581T>C (p.Leu194Pro) |
single nucleotide variant |
Phenylketonuria [RCV000411842]|not provided [RCV000088991] |
Chr12:102855261 [GRCh38]
Chr12:103249039 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.586_608del (p.Ser196fs) |
deletion |
Phenylketonuria [RCV001269063]|not provided [RCV000088992] |
Chr12:102855234..102855256 [GRCh38]
Chr12:103249012..103249034 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.58C>T (p.Gln20Ter) |
single nucleotide variant |
Phenylketonuria [RCV000169450]|not provided [RCV000088993] |
Chr12:102917073 [GRCh38]
Chr12:103310851 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.590_612del (p.Ser196_Leu197insTer) |
deletion |
not provided [RCV000088994] |
Chr12:102855230..102855252 [GRCh38]
Chr12:103249008..103249030 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.592_613del (p.Tyr198fs) |
deletion |
Inborn genetic diseases [RCV002514544]|Phenylketonuria [RCV000587795]|not provided [RCV000088995] |
Chr12:102855229..102855250 [GRCh38]
Chr12:103249007..103249028 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.593_614del (p.Tyr198fs) |
deletion |
Phenylketonuria [RCV001269062]|not provided [RCV000088996] |
Chr12:102855228..102855249 [GRCh38]
Chr12:103249006..103249027 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.59A>T (p.Gln20Leu) |
single nucleotide variant |
Phenylketonuria [RCV000993617]|not provided [RCV000088998] |
Chr12:102917072 [GRCh38]
Chr12:103310850 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.60+40T>G |
single nucleotide variant |
not provided [RCV000088999] |
Chr12:102917031 [GRCh38]
Chr12:103310809 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.60+5G>T |
single nucleotide variant |
Inborn genetic diseases [RCV000624585]|PAH-related disorder [RCV003415875]|Phenylketonuria [RCV000173096]|not provided [RCV000089000] |
Chr12:102917066 [GRCh38]
Chr12:103310844 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.601C>T (p.His201Tyr) |
single nucleotide variant |
Hyperphenylalaninemia [RCV000588479]|Phenylketonuria [RCV000509208]|not provided [RCV000089001] |
Chr12:102855241 [GRCh38]
Chr12:103249019 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.602A>G (p.His201Arg) |
single nucleotide variant |
PAH-related disorder [RCV004739365]|Phenylketonuria [RCV000806196]|not provided [RCV000089002] |
Chr12:102855240 [GRCh38]
Chr12:103249018 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.608G>A (p.Cys203Tyr) |
single nucleotide variant |
Phenylketonuria [RCV001543657]|not provided [RCV000089003] |
Chr12:102855234 [GRCh38]
Chr12:103249012 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.609C>G (p.Cys203Trp) |
single nucleotide variant |
Phenylketonuria [RCV001543658]|not provided [RCV000089004] |
Chr12:102855233 [GRCh38]
Chr12:103249011 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.609C>T (p.Cys203=) |
single nucleotide variant |
Inborn genetic diseases [RCV002513934]|Phenylketonuria [RCV001082797]|not provided [RCV000089005]|not specified [RCV001194127] |
Chr12:102855233 [GRCh38]
Chr12:103249011 [GRCh37]
Chr12:12q23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.60G>C (p.Gln20His) |
single nucleotide variant |
Phenylketonuria [RCV000993618]|not provided [RCV000089006] |
Chr12:102917071 [GRCh38]
Chr12:103310849 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.612T>G (p.Tyr204Ter) |
single nucleotide variant |
Phenylketonuria [RCV000686246]|not provided [RCV000089008] |
Chr12:102855230 [GRCh38]
Chr12:103249008 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.613G>A (p.Glu205Lys) |
single nucleotide variant |
Phenylketonuria [RCV001071178]|not provided [RCV000089009] |
Chr12:102855229 [GRCh38]
Chr12:103249007 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.614A>C (p.Glu205Ala) |
single nucleotide variant |
not provided [RCV000089010] |
Chr12:102855228 [GRCh38]
Chr12:103249006 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.616T>G (p.Tyr206Asp) |
single nucleotide variant |
not provided [RCV000089011] |
Chr12:102855226 [GRCh38]
Chr12:103249004 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.617A>G (p.Tyr206Cys) |
single nucleotide variant |
Phenylketonuria [RCV000666489]|not provided [RCV000089012] |
Chr12:102855225 [GRCh38]
Chr12:103249003 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.1099dup (p.Leu367fs) |
duplication |
Phenylketonuria [RCV002509212]|not provided [RCV000088755] |
Chr12:102843745..102843746 [GRCh38]
Chr12:103237523..103237524 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| PAH:c.1099_1100insC (p.Leu367Profs) |
duplication |
not provided [RCV000088756] |
Chr12:102843745..102843746 [GRCh38]
Chr12:103237523..103237524 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.111dup (p.Ile38fs) |
duplication |
Phenylketonuria [RCV000993603]|not provided [RCV000088764] |
Chr12:102912847..102912848 [GRCh38]
Chr12:103306625..103306626 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?) |
duplication |
Phenylketonuria [RCV000169511]|not provided [RCV000088835] |
Chr12:102839178..102839179 [GRCh38]
Chr12:103232956..103232957 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.1(PAH):c.265dupC (p.Ala90Cysfs) |
duplication |
not provided [RCV000088885] |
Chr12:102894822 [GRCh38]
Chr12:103288600 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.266dup (p.Ala90fs) |
duplication |
Phenylketonuria [RCV000667411]|not provided [RCV000088887] |
Chr12:102894820..102894821 [GRCh38]
Chr12:103288598..103288599 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.598dup (p.Thr200fs) |
duplication |
Phenylketonuria [RCV001789758]|not provided [RCV000088997] |
Chr12:102855243..102855244 [GRCh38]
Chr12:103249021..103249022 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.618C>G (p.Tyr206Ter) |
single nucleotide variant |
Phenylketonuria [RCV000578371]|not provided [RCV000089013] |
Chr12:102855224 [GRCh38]
Chr12:103249002 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.619A>G (p.Asn207Asp) |
single nucleotide variant |
not provided [RCV000089014] |
Chr12:102855223 [GRCh38]
Chr12:103249001 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.620A>G (p.Asn207Ser) |
single nucleotide variant |
Phenylketonuria [RCV000668775]|not provided [RCV000089015] |
Chr12:102855222 [GRCh38]
Chr12:103249000 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.631C>A (p.Pro211Thr) |
single nucleotide variant |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency [RCV001192748]|Phenylketonuria [RCV000411219]|not provided [RCV000089016] |
Chr12:102855211 [GRCh38]
Chr12:103248989 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.632del (p.Pro211fs) |
deletion |
Phenylketonuria [RCV000411734]|not provided [RCV000089017] |
Chr12:102855210 [GRCh38]
Chr12:103248988 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.635T>C (p.Leu212Pro) |
single nucleotide variant |
Phenylketonuria [RCV000671113]|not provided [RCV000089018] |
Chr12:102855207 [GRCh38]
Chr12:103248985 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.648C>G (p.Tyr216Ter) |
single nucleotide variant |
Phenylketonuria [RCV000179283]|not provided [RCV000089019] |
Chr12:102855194 [GRCh38]
Chr12:103248972 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.649T>C (p.Cys217Arg) |
single nucleotide variant |
Phenylketonuria [RCV000664975]|not provided [RCV000089020] |
Chr12:102855193 [GRCh38]
Chr12:103248971 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.649T>G (p.Cys217Gly) |
single nucleotide variant |
Phenylketonuria [RCV001789759]|not provided [RCV000089021] |
Chr12:102855193 [GRCh38]
Chr12:103248971 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.650G>A (p.Cys217Tyr) |
single nucleotide variant |
Phenylketonuria [RCV000758101]|not provided [RCV000089022] |
Chr12:102855192 [GRCh38]
Chr12:103248970 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.653G>T (p.Gly218Val) |
single nucleotide variant |
PAH-related disorder [RCV003390791]|Phenylketonuria [RCV000705590]|not provided [RCV000089023] |
Chr12:102855189 [GRCh38]
Chr12:103248967 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.1(PAH):c.663_664delAG (p.Asp222Terfs) |
deletion |
not provided [RCV000089025] |
Chr12:102855178..102855179 [GRCh38]
Chr12:103248956..103248957 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.665A>G (p.Asp222Gly) |
single nucleotide variant |
Phenylketonuria [RCV001381395]|not provided [RCV000089026] |
Chr12:102855177 [GRCh38]
Chr12:103248955 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.665A>T (p.Asp222Val) |
single nucleotide variant |
Phenylketonuria [RCV001789760]|not provided [RCV000089027] |
Chr12:102855177 [GRCh38]
Chr12:103248955 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.671T>C (p.Ile224Thr) |
single nucleotide variant |
Phenylketonuria [RCV001261644]|not provided [RCV000089028] |
Chr12:102855171 [GRCh38]
Chr12:103248949 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.672T>G (p.Ile224Met) |
single nucleotide variant |
not provided [RCV000089029] |
Chr12:102855170 [GRCh38]
Chr12:103248948 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.673C>A (p.Pro225Thr) |
single nucleotide variant |
Phenylketonuria [RCV000673267]|not provided [RCV000089030] |
Chr12:102855169 [GRCh38]
Chr12:103248947 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.673C>G (p.Pro225Ala) |
single nucleotide variant |
Phenylketonuria [RCV001543660]|not provided [RCV000089031] |
Chr12:102855169 [GRCh38]
Chr12:103248947 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.674C>G (p.Pro225Arg) |
single nucleotide variant |
not provided [RCV000089032] |
Chr12:102855168 [GRCh38]
Chr12:103248946 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.676C>T (p.Gln226Ter) |
single nucleotide variant |
Phenylketonuria [RCV001200001]|not provided [RCV000089033] |
Chr12:102855166 [GRCh38]
Chr12:103248944 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.678G>C (p.Gln226His) |
single nucleotide variant |
Phenylketonuria [RCV001854514]|not provided [RCV000089034] |
Chr12:102855164 [GRCh38]
Chr12:103248942 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.688G>A (p.Val230Ile) |
single nucleotide variant |
PAH-related disorder [RCV003398705]|Phenylketonuria [RCV000411829]|not provided [RCV000089035] |
Chr12:102855154 [GRCh38]
Chr12:103248932 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.689T>G (p.Val230Gly) |
single nucleotide variant |
Phenylketonuria [RCV001789761]|not provided [RCV000089036] |
Chr12:102855153 [GRCh38]
Chr12:103248931 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.691T>C (p.Ser231Pro) |
single nucleotide variant |
Phenylketonuria [RCV000190611]|not provided [RCV000089037] |
Chr12:102855151 [GRCh38]
Chr12:103248929 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.692C>T (p.Ser231Phe) |
single nucleotide variant |
Phenylketonuria [RCV001857431]|not provided [RCV000089038] |
Chr12:102855150 [GRCh38]
Chr12:103248928 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.694C>T (p.Gln232Ter) |
single nucleotide variant |
Phenylketonuria [RCV000169464]|not provided [RCV000089039] |
Chr12:102855148 [GRCh38]
Chr12:103248926 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.696= (p.Gln232=) |
single nucleotide variant |
Phenylketonuria [RCV001079304]|not provided [RCV000089040] |
Chr12:102855146 [GRCh38]
Chr12:103248924 [GRCh37]
Chr12:12q23.2 |
benign|not provided |
| NM_000277.3(PAH):c.699C>A (p.Phe233Leu) |
single nucleotide variant |
Phenylketonuria [RCV002259588]|not provided [RCV000089041] |
Chr12:102855143 [GRCh38]
Chr12:103248921 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.704A>C (p.Gln235Pro) |
single nucleotide variant |
Phenylketonuria [RCV002259589]|not provided [RCV000089042] |
Chr12:102855138 [GRCh38]
Chr12:103248916 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.706+17G>T |
single nucleotide variant |
Phenylketonuria [RCV000758115]|not provided [RCV000089043] |
Chr12:102855119 [GRCh38]
Chr12:103248897 [GRCh37]
Chr12:12q23.2 |
likely benign|not provided |
| NM_000277.3(PAH):c.707-1G>A |
single nucleotide variant |
Phenylketonuria [RCV000797518]|not provided [RCV000089044] |
Chr12:102852951 [GRCh38]
Chr12:103246729 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.707-2A>G |
single nucleotide variant |
Phenylketonuria [RCV001375889]|not provided [RCV000089045] |
Chr12:102852952 [GRCh38]
Chr12:103246730 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.707-7A>T |
single nucleotide variant |
Phenylketonuria [RCV000274526]|not provided [RCV000089046]|not specified [RCV000153636] |
Chr12:102852957 [GRCh38]
Chr12:103246735 [GRCh37]
Chr12:12q23.2 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.712A>C (p.Thr238Pro) |
single nucleotide variant |
Phenylketonuria [RCV000672442]|not provided [RCV000089047] |
Chr12:102852945 [GRCh38]
Chr12:103246723 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.715G>A (p.Gly239Ser) |
single nucleotide variant |
not provided [RCV000089048] |
Chr12:102852942 [GRCh38]
Chr12:103246720 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.716G>A (p.Gly239Asp) |
single nucleotide variant |
Phenylketonuria [RCV001857432]|not provided [RCV000089049] |
Chr12:102852941 [GRCh38]
Chr12:103246719 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.716G>C (p.Gly239Ala) |
single nucleotide variant |
Phenylketonuria [RCV002514545]|not provided [RCV000089050] |
Chr12:102852941 [GRCh38]
Chr12:103246719 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.716G>T (p.Gly239Val) |
single nucleotide variant |
Phenylketonuria [RCV001215843]|not provided [RCV000089051] |
Chr12:102852941 [GRCh38]
Chr12:103246719 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.718T>G (p.Phe240Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002514546]|Phenylketonuria [RCV000667600]|not provided [RCV000089052]|not specified [RCV004525872] |
Chr12:102852939 [GRCh38]
Chr12:103246717 [GRCh37]
Chr12:12q23.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.719T>C (p.Phe240Ser) |
single nucleotide variant |
Phenylketonuria [RCV002259590]|not provided [RCV000089053] |
Chr12:102852938 [GRCh38]
Chr12:103246716 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.721C>T (p.Arg241Cys) |
single nucleotide variant |
PAH-related disorder [RCV004739366]|Phenylketonuria [RCV000153635]|not provided [RCV000089054] |
Chr12:102852936 [GRCh38]
Chr12:103246714 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.722G>A (p.Arg241His) |
single nucleotide variant |
Inborn genetic diseases [RCV003343638]|Phenylketonuria [RCV000576386]|not provided [RCV000089055] |
Chr12:102852935 [GRCh38]
Chr12:103246713 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.722G>T (p.Arg241Leu) |
single nucleotide variant |
Phenylketonuria [RCV000688713]|not provided [RCV000089056] |
Chr12:102852935 [GRCh38]
Chr12:103246713 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.722del (p.Arg241fs) |
deletion |
Phenylketonuria [RCV000169560]|not provided [RCV000089057] |
Chr12:102852935 [GRCh38]
Chr12:103246713 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.724C>T (p.Leu242Phe) |
single nucleotide variant |
Phenylketonuria [RCV000411222]|not provided [RCV000089058] |
Chr12:102852933 [GRCh38]
Chr12:103246711 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.728G>T (p.Arg243Leu) |
single nucleotide variant |
Phenylketonuria [RCV001543659]|not provided [RCV000089060] |
Chr12:102852929 [GRCh38]
Chr12:103246707 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.733G>A (p.Val245Met) |
single nucleotide variant |
Phenylketonuria [RCV002259591]|not provided [RCV000089062] |
Chr12:102852924 [GRCh38]
Chr12:103246702 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.733G>C (p.Val245Leu) |
single nucleotide variant |
Phenylketonuria [RCV000340479]|not provided [RCV000089063] |
Chr12:102852924 [GRCh38]
Chr12:103246702 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.734T>A (p.Val245Glu) |
single nucleotide variant |
Phenylketonuria [RCV000632879]|not provided [RCV000089064] |
Chr12:102852923 [GRCh38]
Chr12:103246701 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.737C>A (p.Ala246Asp) |
single nucleotide variant |
Phenylketonuria [RCV002259592]|not provided [RCV000089067] |
Chr12:102852920 [GRCh38]
Chr12:103246698 [GRCh37]
Chr12:12q23.2 |
pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.737C>T (p.Ala246Val) |
single nucleotide variant |
Phenylketonuria [RCV000673258]|not provided [RCV000089068] |
Chr12:102852920 [GRCh38]
Chr12:103246698 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.737del (p.Ala246fs) |
deletion |
Phenylketonuria [RCV000543254]|not provided [RCV000089069] |
Chr12:102852920 [GRCh38]
Chr12:103246698 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.739G>A (p.Gly247Ser) |
single nucleotide variant |
Phenylketonuria [RCV000758094]|not provided [RCV000089070] |
Chr12:102852918 [GRCh38]
Chr12:103246696 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.739G>C (p.Gly247Arg) |
single nucleotide variant |
Phenylketonuria [RCV000668140]|not provided [RCV000089071] |
Chr12:102852918 [GRCh38]
Chr12:103246696 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.740G>A (p.Gly247Asp) |
single nucleotide variant |
Phenylketonuria [RCV000758103]|not provided [RCV000089072] |
Chr12:102852917 [GRCh38]
Chr12:103246695 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.740G>T (p.Gly247Val) |
single nucleotide variant |
Phenylketonuria [RCV000169396]|not provided [RCV000089073] |
Chr12:102852917 [GRCh38]
Chr12:103246695 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.743T>C (p.Leu248Pro) |
single nucleotide variant |
Phenylketonuria [RCV002259593]|not provided [RCV000089074] |
Chr12:102852914 [GRCh38]
Chr12:103246692 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.743T>G (p.Leu248Arg) |
single nucleotide variant |
Phenylketonuria [RCV002259594]|not provided [RCV000089075] |
Chr12:102852914 [GRCh38]
Chr12:103246692 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.745C>T (p.Leu249Phe) |
single nucleotide variant |
Phenylketonuria [RCV000153634]|not provided [RCV000089076] |
Chr12:102852912 [GRCh38]
Chr12:103246690 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.746T>A (p.Leu249His) |
single nucleotide variant |
Phenylketonuria [RCV002259595]|not provided [RCV000089077] |
Chr12:102852911 [GRCh38]
Chr12:103246689 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.754C>G (p.Arg252Gly) |
single nucleotide variant |
Phenylketonuria [RCV000674327]|not provided [RCV000089078] |
Chr12:102852903 [GRCh38]
Chr12:103246681 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.755G>A (p.Arg252Gln) |
single nucleotide variant |
Phenylketonuria [RCV000179742]|not provided [RCV000089080] |
Chr12:102852902 [GRCh38]
Chr12:103246680 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.760T>A (p.Phe254Ile) |
single nucleotide variant |
not provided [RCV000089081] |
Chr12:102852897 [GRCh38]
Chr12:103246675 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.763T>G (p.Leu255Val) |
single nucleotide variant |
not provided [RCV000089082] |
Chr12:102852894 [GRCh38]
Chr12:103246672 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.769G>A (p.Gly257Ser) |
single nucleotide variant |
not provided [RCV000089084] |
Chr12:102852888 [GRCh38]
Chr12:103246666 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.769G>T (p.Gly257Cys) |
single nucleotide variant |
not provided [RCV000089085] |
Chr12:102852888 [GRCh38]
Chr12:103246666 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.770G>A (p.Gly257Asp) |
single nucleotide variant |
not provided [RCV000089086] |
Chr12:102852887 [GRCh38]
Chr12:103246665 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.770G>T (p.Gly257Val) |
single nucleotide variant |
Phenylketonuria [RCV000668413]|not provided [RCV000089087] |
Chr12:102852887 [GRCh38]
Chr12:103246665 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.775G>A (p.Ala259Thr) |
single nucleotide variant |
Phenylketonuria [RCV000411173]|not provided [RCV000089088] |
Chr12:102852882 [GRCh38]
Chr12:103246660 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.782G>C (p.Arg261Pro) |
single nucleotide variant |
Phenylketonuria [RCV000410877]|not provided [RCV000089091] |
Chr12:102852875 [GRCh38]
Chr12:103246653 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.789C>G (p.Phe263Leu) |
single nucleotide variant |
Phenylketonuria [RCV000758091]|not provided [RCV000089092] |
Chr12:102852868 [GRCh38]
Chr12:103246646 [GRCh37]
Chr12:12q23.2 |
pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.791A>T (p.His264Leu) |
single nucleotide variant |
Phenylketonuria [RCV000758099]|not provided [RCV000089093] |
Chr12:102852866 [GRCh38]
Chr12:103246644 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.793T>G (p.Cys265Gly) |
single nucleotide variant |
Phenylketonuria [RCV002259596]|not provided [RCV000089094] |
Chr12:102852864 [GRCh38]
Chr12:103246642 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.794G>A (p.Cys265Tyr) |
single nucleotide variant |
Phenylketonuria [RCV000810805]|not provided [RCV000089095] |
Chr12:102852863 [GRCh38]
Chr12:103246641 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.796A>G (p.Thr266Ala) |
single nucleotide variant |
Phenylketonuria [RCV001854515]|not provided [RCV000089096] |
Chr12:102852861 [GRCh38]
Chr12:103246639 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.797C>A (p.Thr266Lys) |
single nucleotide variant |
not provided [RCV000089097] |
Chr12:102852860 [GRCh38]
Chr12:103246638 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.799C>G (p.Gln267Glu) |
single nucleotide variant |
Phenylketonuria [RCV000758126]|not provided [RCV000089098] |
Chr12:102852858 [GRCh38]
Chr12:103246636 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.801G>C (p.Gln267His) |
single nucleotide variant |
Phenylketonuria [RCV000758096]|not provided [RCV000089099] |
Chr12:102852856 [GRCh38]
Chr12:103246634 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.802T>C (p.Tyr268His) |
single nucleotide variant |
Phenylketonuria [RCV000758117]|not provided [RCV000089100] |
Chr12:102852855 [GRCh38]
Chr12:103246633 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.805A>C (p.Ile269Leu) |
single nucleotide variant |
Phenylketonuria [RCV000281383]|not provided [RCV000089101] |
Chr12:102852852 [GRCh38]
Chr12:103246630 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.806T>A (p.Ile269Asn) |
single nucleotide variant |
Phenylketonuria [RCV000763291]|not provided [RCV000089102] |
Chr12:102852851 [GRCh38]
Chr12:103246629 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.806del (p.Ile269fs) |
deletion |
Phenylketonuria [RCV000153633]|not provided [RCV000089103] |
Chr12:102852851 [GRCh38]
Chr12:103246629 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.808A>G (p.Arg270Gly) |
single nucleotide variant |
Phenylketonuria [RCV004786371]|not provided [RCV000089104] |
Chr12:102852849 [GRCh38]
Chr12:103246627 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.809G>A (p.Arg270Lys) |
single nucleotide variant |
Phenylketonuria [RCV000153632]|not provided [RCV000089105] |
Chr12:102852848 [GRCh38]
Chr12:103246626 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.810A>T (p.Arg270Ser) |
single nucleotide variant |
Phenylketonuria [RCV003323400]|not provided [RCV000089106] |
Chr12:102852847 [GRCh38]
Chr12:103246625 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.810_814del (p.His271fs) |
deletion |
Phenylketonuria [RCV003479003]|not provided [RCV000089107] |
Chr12:102852843..102852847 [GRCh38]
Chr12:103246621..103246625 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.811C>T (p.His271Tyr) |
single nucleotide variant |
Phenylketonuria [RCV000758116]|See cases [RCV004584351]|not provided [RCV000089108] |
Chr12:102852846 [GRCh38]
Chr12:103246624 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.812A>G (p.His271Arg) |
single nucleotide variant |
Phenylketonuria [RCV000758132]|not provided [RCV000089109] |
Chr12:102852845 [GRCh38]
Chr12:103246623 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.820A>G (p.Lys274Glu) |
single nucleotide variant |
Phenylketonuria [RCV000148723]|not provided [RCV000089112] |
Chr12:102852837 [GRCh38]
Chr12:103246615 [GRCh37]
Chr12:12q23.2 |
pathogenic|benign|likely benign|not provided |
| NM_000277.3(PAH):c.822_832del (p.Lys274fs) |
deletion |
Phenylketonuria [RCV001200000]|not provided [RCV000089113] |
Chr12:102852825..102852835 [GRCh38]
Chr12:103246603..103246613 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.823C>T (p.Pro275Ser) |
single nucleotide variant |
Phenylketonuria [RCV000672603]|not provided [RCV000089114] |
Chr12:102852834 [GRCh38]
Chr12:103246612 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.824C>G (p.Pro275Arg) |
single nucleotide variant |
Phenylketonuria [RCV000672381]|not provided [RCV000089115] |
Chr12:102852833 [GRCh38]
Chr12:103246611 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.824C>T (p.Pro275Leu) |
single nucleotide variant |
Phenylketonuria [RCV000670910]|not provided [RCV000089116] |
Chr12:102852833 [GRCh38]
Chr12:103246611 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.826A>G (p.Met276Val) |
single nucleotide variant |
Phenylketonuria [RCV000664652]|not provided [RCV000089117] |
Chr12:102852831 [GRCh38]
Chr12:103246609 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.827T>A (p.Met276Lys) |
single nucleotide variant |
Phenylketonuria [RCV000758121]|not provided [RCV000089118] |
Chr12:102852830 [GRCh38]
Chr12:103246608 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.827T>G (p.Met276Arg) |
single nucleotide variant |
Phenylketonuria [RCV001375900]|not provided [RCV000089119] |
Chr12:102852830 [GRCh38]
Chr12:103246608 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.828G>T (p.Met276Ile) |
single nucleotide variant |
Phenylketonuria [RCV001543637]|not provided [RCV000089120] |
Chr12:102852829 [GRCh38]
Chr12:103246607 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.830A>G (p.Tyr277Cys) |
single nucleotide variant |
Phenylketonuria [RCV000411640]|not provided [RCV000089121] |
Chr12:102852827 [GRCh38]
Chr12:103246605 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.832A>G (p.Thr278Ala) |
single nucleotide variant |
Phenylketonuria [RCV001789762]|not provided [RCV000089122] |
Chr12:102852825 [GRCh38]
Chr12:103246603 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.833C>A (p.Thr278Asn) |
single nucleotide variant |
Phenylketonuria [RCV000665406]|not provided [RCV000089123] |
Chr12:102852824 [GRCh38]
Chr12:103246602 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.833C>T (p.Thr278Ile) |
single nucleotide variant |
Phenylketonuria [RCV000672785]|not provided [RCV000089124] |
Chr12:102852824 [GRCh38]
Chr12:103246602 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.838G>C (p.Glu280Gln) |
single nucleotide variant |
Phenylketonuria [RCV001857433]|not provided [RCV000089125] |
Chr12:102852819 [GRCh38]
Chr12:103246597 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.838_842+3del |
deletion |
not provided [RCV000089126] |
Chr12:102852812..102852819 [GRCh38]
Chr12:103246590..103246597 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.839A>G (p.Glu280Gly) |
single nucleotide variant |
Phenylketonuria [RCV000632877]|not provided [RCV000089127] |
Chr12:102852818 [GRCh38]
Chr12:103246596 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.839_840insT (p.Glu280fs) |
insertion |
Phenylketonuria [RCV003479004]|not provided [RCV000089128] |
Chr12:102852817..102852818 [GRCh38]
Chr12:103246595..103246596 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.1(PAH):c.842+1G>A |
single nucleotide variant |
not provided [RCV000089129] |
Chr12:102852814 [GRCh38]
Chr12:103246592 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.842+1G>T |
single nucleotide variant |
Phenylketonuria [RCV000993619]|not provided [RCV000089130] |
Chr12:102852814 [GRCh38]
Chr12:103246592 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.1(PAH):c.842+2T>A |
single nucleotide variant |
not provided [RCV000089131] |
Chr12:102852813 [GRCh38]
Chr12:103246591 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.842+3G>C |
single nucleotide variant |
Phenylketonuria [RCV000409987]|not provided [RCV000089132] |
Chr12:102852812 [GRCh38]
Chr12:103246590 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.842+5G>A |
single nucleotide variant |
Phenylketonuria [RCV000169348]|not provided [RCV000089133] |
Chr12:102852810 [GRCh38]
Chr12:103246588 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.843-2A>T |
single nucleotide variant |
Phenylketonuria [RCV000993620]|not provided [RCV000089134] |
Chr12:102851758 [GRCh38]
Chr12:103245536 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.844G>A (p.Asp282Asn) |
single nucleotide variant |
Phenylketonuria [RCV000411380]|not provided [RCV000089135] |
Chr12:102851755 [GRCh38]
Chr12:103245533 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.845A>G (p.Asp282Gly) |
single nucleotide variant |
Phenylketonuria [RCV002514547]|not provided [RCV000089136] |
Chr12:102851754 [GRCh38]
Chr12:103245532 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.847A>T (p.Ile283Phe) |
single nucleotide variant |
Phenylketonuria [RCV000169005]|not provided [RCV000089137] |
Chr12:102851752 [GRCh38]
Chr12:103245530 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.848T>A (p.Ile283Asn) |
single nucleotide variant |
Phenylketonuria [RCV000758133]|not provided [RCV000089138] |
Chr12:102851751 [GRCh38]
Chr12:103245529 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.850T>C (p.Cys284Arg) |
single nucleotide variant |
Phenylketonuria [RCV001543638]|not provided [RCV000089139] |
Chr12:102851749 [GRCh38]
Chr12:103245527 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.853C>T (p.His285Tyr) |
single nucleotide variant |
Phenylketonuria [RCV001199999]|not provided [RCV000089140] |
Chr12:102851746 [GRCh38]
Chr12:103245524 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.856G>A (p.Glu286Lys) |
single nucleotide variant |
Phenylketonuria [RCV000758134]|not provided [RCV000089141] |
Chr12:102851743 [GRCh38]
Chr12:103245521 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.864G>C (p.Leu288Phe) |
single nucleotide variant |
Phenylketonuria [RCV000758112]|not provided [RCV000089142] |
Chr12:102851735 [GRCh38]
Chr12:103245513 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.865G>C (p.Gly289Arg) |
single nucleotide variant |
Phenylketonuria [RCV000758136]|not provided [RCV000089143] |
Chr12:102851734 [GRCh38]
Chr12:103245512 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.869A>G (p.His290Arg) |
single nucleotide variant |
Phenylketonuria [RCV001375907]|not provided [RCV000089144] |
Chr12:102851730 [GRCh38]
Chr12:103245508 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.884C>G (p.Ser295Ter) |
single nucleotide variant |
Phenylketonuria [RCV000993621]|not provided [RCV000089145] |
Chr12:102851715 [GRCh38]
Chr12:103245493 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.889C>T (p.Arg297Cys) |
single nucleotide variant |
Phenylketonuria [RCV000993622]|not provided [RCV000089146] |
Chr12:102851710 [GRCh38]
Chr12:103245488 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.895_897del (p.Phe299del) |
deletion |
Phenylketonuria [RCV000993623]|not provided [RCV000089147] |
Chr12:102851702..102851704 [GRCh38]
Chr12:103245480..103245482 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.899C>T (p.Ala300Val) |
single nucleotide variant |
Phenylketonuria [RCV000669088]|not provided [RCV000089149] |
Chr12:102851700 [GRCh38]
Chr12:103245478 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.907del (p.Ser303fs) |
deletion |
Phenylketonuria [RCV000993624]|not provided [RCV000089150] |
Chr12:102851692 [GRCh38]
Chr12:103245470 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.907T>C (p.Ser303Pro) |
single nucleotide variant |
Phenylketonuria [RCV000993625]|not provided [RCV000089151] |
Chr12:102851692 [GRCh38]
Chr12:103245470 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.907T>G (p.Ser303Ala) |
single nucleotide variant |
Phenylketonuria [RCV001543639]|not provided [RCV000089152] |
Chr12:102851692 [GRCh38]
Chr12:103245470 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.911A>G (p.Gln304Arg) |
single nucleotide variant |
Phenylketonuria [RCV001543640]|not provided [RCV000089153] |
Chr12:102851688 [GRCh38]
Chr12:103245466 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.912G>A (p.Gln304=) |
single nucleotide variant |
Phenylketonuria [RCV000672215]|not provided [RCV000089154] |
Chr12:102851687 [GRCh38]
Chr12:103245465 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.913-5T>G |
single nucleotide variant |
not provided [RCV000089155] |
Chr12:102846956 [GRCh38]
Chr12:103240734 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.913-7A>G |
single nucleotide variant |
Phenylketonuria [RCV000589029]|not provided [RCV000089156] |
Chr12:102846958 [GRCh38]
Chr12:103240736 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.922C>G (p.Leu308Val) |
single nucleotide variant |
not provided [RCV000089158] |
Chr12:102846942 [GRCh38]
Chr12:103240720 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.922C>T (p.Leu308Phe) |
single nucleotide variant |
PAH-related disorder [RCV004739367]|Phenylketonuria [RCV003474693]|not provided [RCV000089159] |
Chr12:102846942 [GRCh38]
Chr12:103240720 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.2(PAH):c.-147C>T |
single nucleotide variant |
Phenylketonuria [RCV000329273]|not provided [RCV000088690] |
Chr12:102917277 [GRCh38]
Chr12:103311055 [GRCh37]
Chr12:12q23.2 |
benign|likely benign|not provided |
| NM_000277.3(PAH):c.-1C>T |
single nucleotide variant |
not provided [RCV000088691] |
Chr12:102917131 [GRCh38]
Chr12:103310909 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.2(PAH):c.-225G>A |
single nucleotide variant |
not provided [RCV000088692] |
Chr12:102917355 [GRCh38]
Chr12:103311133 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.-4172_-406del3767 |
deletion |
not provided [RCV000088693] |
Chr12:102917536..102921302 [GRCh38]
Chr12:103311316..103315082 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.-71A>C |
single nucleotide variant |
Phenylketonuria [RCV000326257]|not provided [RCV000088694] |
Chr12:102917201 [GRCh38]
Chr12:103310979 [GRCh37]
Chr12:12q23.2 |
benign|likely benign|not provided |
| NM_000277.3(PAH):c.1001G>C (p.Cys334Ser) |
single nucleotide variant |
Phenylketonuria [RCV001543646]|not provided [RCV000088695] |
Chr12:102844400 [GRCh38]
Chr12:103238178 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1006C>T (p.Gln336Ter) |
single nucleotide variant |
Phenylketonuria [RCV002259580]|not provided [RCV000088696] |
Chr12:102844395 [GRCh38]
Chr12:103238173 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1007A>G (p.Gln336Arg) |
single nucleotide variant |
Phenylketonuria [RCV001543647]|not provided [RCV000088697] |
Chr12:102844394 [GRCh38]
Chr12:103238172 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1010G>T (p.Gly337Val) |
single nucleotide variant |
Phenylketonuria [RCV001543648]|not provided [RCV000088698] |
Chr12:102844391 [GRCh38]
Chr12:103238169 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr) |
single nucleotide variant |
Phenylketonuria [RCV000794431]|not provided [RCV000088699] |
Chr12:102844389 [GRCh38]
Chr12:103238167 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1019T>C (p.Ile340Thr) |
single nucleotide variant |
Phenylketonuria [RCV001543649]|not provided [RCV000088700] |
Chr12:102844382 [GRCh38]
Chr12:103238160 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1021A>T (p.Lys341Ter) |
single nucleotide variant |
Phenylketonuria [RCV002259581]|not provided [RCV000088701] |
Chr12:102844380 [GRCh38]
Chr12:103238158 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1022A>C (p.Lys341Thr) |
single nucleotide variant |
Phenylketonuria [RCV001543650]|not provided [RCV000088702] |
Chr12:102844379 [GRCh38]
Chr12:103238157 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1022A>G (p.Lys341Arg) |
single nucleotide variant |
Phenylketonuria [RCV001543651]|not provided [RCV000088703] |
Chr12:102844379 [GRCh38]
Chr12:103238157 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1024G>A (p.Ala342Thr) |
single nucleotide variant |
Phenylketonuria [RCV001386152]|not provided [RCV000088704] |
Chr12:102844377 [GRCh38]
Chr12:103238155 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1024G>C (p.Ala342Pro) |
single nucleotide variant |
Phenylketonuria [RCV003330433]|not provided [RCV000088705] |
Chr12:102844377 [GRCh38]
Chr12:103238155 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1024del (p.Ala342fs) |
deletion |
Phenylketonuria [RCV000412182]|not provided [RCV000088706] |
Chr12:102844377 [GRCh38]
Chr12:103238155 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1027T>G (p.Tyr343Asp) |
single nucleotide variant |
Phenylketonuria [RCV001200017]|not provided [RCV000088707] |
Chr12:102844374 [GRCh38]
Chr12:103238152 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys) |
single nucleotide variant |
Phenylketonuria [RCV001194126]|not provided [RCV000088708] |
Chr12:102844373 [GRCh38]
Chr12:103238151 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1028A>T (p.Tyr343Phe) |
single nucleotide variant |
not provided [RCV000088709] |
Chr12:102844373 [GRCh38]
Chr12:103238151 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1030G>A (p.Gly344Ser) |
single nucleotide variant |
Phenylketonuria [RCV001379649]|not provided [RCV000088710] |
Chr12:102844371 [GRCh38]
Chr12:103238149 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1030G>C (p.Gly344Arg) |
single nucleotide variant |
Phenylketonuria [RCV001543645]|not provided [RCV000088711] |
Chr12:102844371 [GRCh38]
Chr12:103238149 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1031G>A (p.Gly344Asp) |
single nucleotide variant |
Phenylketonuria [RCV001543654]|not provided [RCV000088712] |
Chr12:102844370 [GRCh38]
Chr12:103238148 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|not provided |
| NM_000277.3(PAH):c.1031G>T (p.Gly344Val) |
single nucleotide variant |
Phenylketonuria [RCV000674226]|not provided [RCV000088713] |
Chr12:102844370 [GRCh38]
Chr12:103238148 [GRCh37]
Chr12:12q23.2 |
uncertain significance|not provided |
| NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) |
single nucleotide variant |
Phenylketonuria [RCV000490440]|not provided [RCV000088714] |
Chr12:102844368 [GRCh38]
Chr12:103238146 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) |
single nucleotide variant |
PAH-related disorder [RCV004739361]|Phenylketonuria [RCV000586982]|not provided [RCV000088715] |
Chr12:102844368 [GRCh38]
Chr12:103238146 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1036G>A (p.Gly346Arg) |
single nucleotide variant |
not provided [RCV000088716] |
Chr12:102844365 [GRCh38]
Chr12:103238143 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1036G>C (p.Gly346Arg) |
single nucleotide variant |
not provided [RCV000088717] |
Chr12:102844365 [GRCh38]
Chr12:103238143 [GRCh37]
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.1038del (p.Leu347fs) |
deletion |
Phenylketonuria [RCV000780556]|not provided [RCV000088718] |
Chr12:102844363 [GRCh38]
Chr12:103238141 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1042C>G (p.Leu348Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002514381]|PAH-related disorder [RCV003944994]|Phenylketonuria [RCV000150080]|See cases [RCV002251963]|not provided [RCV000078498] |
Chr12:102844359 [GRCh38]
Chr12:103238137 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.1(PAH):c.1066-11G>A |
single nucleotide variant |
Phenylketonuria [RCV000150079]|not provided [RCV000078500] |
Chr12:102843790 [GRCh38]
Chr12:103237568 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) |
single nucleotide variant |
Phenylketonuria [RCV000150078]|not provided [RCV000078501] |
Chr12:102843777 [GRCh38]
Chr12:103237555 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1200-1G>A |
single nucleotide variant |
Phenylketonuria [RCV001201306]|not provided [RCV000078505] |
Chr12:102840516 [GRCh38]
Chr12:103234294 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.1208C>T (p.Ala403Val) |
single nucleotide variant |
Inborn genetic diseases [RCV000622360]|PAH-related disorder [RCV003915048]|Phenylketonuria [RCV000150075]|not provided [RCV000078506] |
Chr12:102840507 [GRCh38]
Chr12:103234285 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.1278T>C (p.Asn426=) |
single nucleotide variant |
Phenylketonuria [RCV000400696]|not provided [RCV000088823]|not specified [RCV000078509] |
Chr12:102840437 [GRCh38]
Chr12:103234215 [GRCh37]
Chr12:12q23.2 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_000277.1(PAH):c.1315+1G>A |
single nucleotide variant |
Phenylketonuria [RCV000150073]|not provided [RCV000078510] |
Chr12:102840399 [GRCh38]
Chr12:103234177 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.165T>G (p.Phe55Leu) |
single nucleotide variant |
Hyperphenylalaninemia [RCV000588067]|PAH-related disorder [RCV004739340]|Phenylketonuria [RCV000150092]|See cases [RCV002251964]|not provided [RCV000078512] |
Chr12:102912794 [GRCh38]
Chr12:103306572 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| NM_000277.1(PAH):c.165delT (p.Phe55Leufs) |
deletion |
Phenylketonuria [RCV000150093]|not provided [RCV000078513] |
Chr12:102912794 [GRCh38]
Chr12:103306572 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.168+19T>C |
single nucleotide variant |
Phenylketonuria [RCV000604437]|not provided [RCV000088845]|not specified [RCV000078514] |
Chr12:102912772 [GRCh38]
Chr12:103306550 [GRCh37]
Chr12:12q23.2 |
benign|not provided |
| NM_000277.3(PAH):c.169G>A (p.Glu57Lys) |
single nucleotide variant |
Phenylketonuria [RCV000721179]|not provided [RCV000078515] |
Chr12:102894918 [GRCh38]
Chr12:103288696 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.204A>T (p.Arg68Ser) |
single nucleotide variant |
PAH-related disorder [RCV003398669]|Phenylketonuria [RCV000150091]|not provided [RCV000078517] |
Chr12:102894883 [GRCh38]
Chr12:103288661 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| NM_000277.1(PAH):c.284_286delTCA (p.Ile95del) |
deletion |
Phenylketonuria [RCV000150090]|not provided [RCV000078518] |
Chr12:102894801..102894803 [GRCh38]
Chr12:103288579..103288581 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del) |
deletion |
Phenylketonuria [RCV000721174]|not provided [RCV000078519] |
Chr12:102894769..102894777 [GRCh38]
Chr12:103288547..103288555 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.355C>T (p.Pro119Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004019527]|Phenylketonuria [RCV000178066]|not provided [RCV000790751] |
Chr12:102877548 [GRCh38]
Chr12:103271326 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.441+5G>T |
single nucleotide variant |
PAH-related disorder [RCV004739341]|Phenylketonuria [RCV000150089]|not provided [RCV000078521] |
Chr12:102877457 [GRCh38]
Chr12:103271235 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.500A>T (p.Asn167Ile) |
single nucleotide variant |
Phenylketonuria [RCV000412232]|not provided [RCV000078523] |
Chr12:102866605 [GRCh38]
Chr12:103260383 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000277.3(PAH):c.508C>G (p.His170Asp) |
single nucleotide variant |
Phenylketonuria [RCV000150088]|not provided [RCV000078524] |
Chr12:102866597 [GRCh38]
Chr12:103260375 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.510-20_510-18dup |
duplication |
Phenylketonuria [RCV001514715]|not provided [RCV001797055]|not specified [RCV000078525] |
Chr12:102855349..102855350 [GRCh38]
Chr12:103249127..103249128 [GRCh37]
Chr12:12q23.2 |
benign|likely benign |
| NM_000277.3(PAH):c.533A>G (p.Glu178Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004019528]|PAH-related disorder [RCV004739342]|Phenylketonuria [RCV000150087]|not provided [RCV000078526] |
Chr12:102855309 [GRCh38]
Chr12:103249087 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.638T>C (p.Leu213Pro) |
single nucleotide variant |
Phenylketonuria [RCV000150086]|not provided [RCV000078527] |
Chr12:102855204 [GRCh38]
Chr12:103248982 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| NM_000277.3(PAH):c.735G>A (p.Val245=) |
single nucleotide variant |
Phenylketonuria [RCV000297921]|not provided [RCV000089066]|not specified [RCV000078529] |
Chr12:102852922 [GRCh38]
Chr12:103246700 [GRCh37]
Chr12:12q23.2 |
benign|not provided |
| NM_000277.3(PAH):c.841C>T (p.Pro281Ser) |
single nucleotide variant |
Phenylketonuria [RCV000721177]|not provided [RCV000078533] |
Chr12:102852816 [GRCh38]
Chr12:103246594 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance|not provided |
| NM_000277.3(PAH):c.890G>A (p.Arg297His) |
single nucleotide variant |
Hyperphenylalaninemia [RCV000588535]|Phenylketonuria [RCV000150085]|not provided [RCV000078535] |
Chr12:102851709 [GRCh38]
Chr12:103245487 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.898G>T (p.Ala300Ser) |
single nucleotide variant |
Hyperphenylalaninemia [RCV000590551]|Inborn genetic diseases [RCV001267463]|Phenylketonuria [RCV000150084]|not provided [RCV000078536] |
Chr12:102851701 [GRCh38]
Chr12:103245479 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.912+1G>A |
single nucleotide variant |
Phenylketonuria [RCV000150083]|not provided [RCV000078537] |
Chr12:102851686 [GRCh38]
Chr12:103245464 [GRCh37]
Chr12:12q23.2 |
pathogenic|not provided |
| NM_000277.3(PAH):c.926C>T (p.Ala309Val) |
single nucleotide variant |
PAH-related disorder [RCV004739343]|Phenylketonuria [RCV000150082]|not provided [RCV000078538] |
Chr12:102846938 [GRCh38]
Chr12:103240716 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000277.3(PAH):c.955G>T (p.Glu319Ter) |
single nucleotide variant |
not provided [RCV000078539] |
Chr12:102846909 [GRCh38]
Chr12:103240687 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.969+43G>T |
single nucleotide variant |
Phenylketonuria [RCV000721183]|not provided [RCV000089180]|not specified [RCV000078540] |
Chr12:102846852 [GRCh38]
Chr12:103240630 [GRCh37]
Chr12:12q23.2 |
benign|not provided |
| NM_000277.3(PAH):c.974A>G (p.Tyr325Cys) |
single nucleotide variant |
Phenylketonuria [RCV000150081]|not provided [RCV000078541] |
Chr12:102844427 [GRCh38]
Chr12:103238205 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.1:c.1-?_168+?del |
deletion |
not provided [RCV000119777] |
Chr12:12q23.2 |
not provided |
| NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) |
deletion |
Phenylketonuria [RCV000169088]|not provided [RCV000119778] |
Chr12:102855177..102855178 [GRCh38]
Chr12:103248955..103248956 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.781C>G (p.Arg261Gly) |
single nucleotide variant |
Phenylketonuria [RCV000119826] |
Chr12:102852876 [GRCh38]
Chr12:103246654 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.489C>T (p.Asp163=) |
single nucleotide variant |
Phenylketonuria [RCV001494505] |
Chr12:102866616 [GRCh38]
Chr12:103260394 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?) |
microsatellite |
Phenylketonuria [RCV000174462]|not provided [RCV000724595] |
Chr12:102839173..102839177 [GRCh38]
Chr12:103232951..103232955 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.357del (p.Trp120fs) |
deletion |
Phenylketonuria [RCV000178065]|not provided [RCV000724124] |
Chr12:102877546 [GRCh38]
Chr12:103271324 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.1097C>T (p.Pro366Leu) |
single nucleotide variant |
Phenylketonuria [RCV002537932]|not provided [RCV001284319] |
Chr12:102843748 [GRCh38]
Chr12:103237526 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.1156T>C (p.Tyr386His) |
single nucleotide variant |
not provided [RCV000173991]|not specified [RCV004700531] |
Chr12:102843689 [GRCh38]
Chr12:103237467 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1286A>C (p.Gln429Pro) |
single nucleotide variant |
not provided [RCV000174234] |
Chr12:102840429 [GRCh38]
Chr12:103234207 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 |
copy number gain |
See cases [RCV000142447] |
Chr12:91044318..109133210 [GRCh38]
Chr12:91438095..109571015 [GRCh37]
Chr12:89962226..108055398 [NCBI36]
Chr12:12q21.33-24.11 |
pathogenic |
| NM_000277.3(PAH):c.1155C>G (p.Leu385=) |
single nucleotide variant |
Phenylketonuria [RCV001514088]|not provided [RCV004706602]|not specified [RCV000153631] |
Chr12:102843690 [GRCh38]
Chr12:103237468 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.696G>A (p.Gln232=) |
single nucleotide variant |
Phenylketonuria [RCV001514637]|not provided [RCV004706603]|not specified [RCV000153637] |
Chr12:102855146 [GRCh38]
Chr12:103248924 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.1(PAH):c.664_665delGA (p.Asp222Terfs) |
deletion |
Phenylketonuria [RCV000169088]|not provided [RCV000089025] |
Chr12:102855177..102855178 [GRCh38]
Chr12:103248955..103248956 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_000277.3(PAH):c.168_168+1delinsAA |
indel |
Phenylketonuria [RCV000169094] |
Chr12:102912790..102912791 [GRCh38]
Chr12:103306568..103306569 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) |
microsatellite |
Phenylketonuria [RCV000169302]|not provided [RCV000186077] |
Chr12:102912841..102912843 [GRCh38]
Chr12:103306619..103306621 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000277.1(PAH):c.442-?_706+?del |
deletion |
not provided [RCV000088927] |
|
not provided |
| NM_000277.3(PAH):c.1025C>A (p.Ala342Glu) |
single nucleotide variant |
Phenylketonuria [RCV000190375] |
Chr12:102844376 [GRCh38]
Chr12:103238154 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.242C>A (p.Thr81Asn) |
single nucleotide variant |
Phenylketonuria [RCV000190376] |
Chr12:102894845 [GRCh38]
Chr12:103288623 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.836C>T (p.Pro279Leu) |
single nucleotide variant |
Phenylketonuria [RCV000190377] |
Chr12:102852821 [GRCh38]
Chr12:103246599 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.895T>C (p.Phe299Leu) |
single nucleotide variant |
Phenylketonuria [RCV000190378] |
Chr12:102851704 [GRCh38]
Chr12:103245482 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.615G>C (p.Glu205Asp) |
single nucleotide variant |
Phenylketonuria [RCV002000227] |
Chr12:102855227 [GRCh38]
Chr12:103249005 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.1065+1G>T |
single nucleotide variant |
Phenylketonuria [RCV001269057]|not provided [RCV001092606] |
Chr12:102844335 [GRCh38]
Chr12:103238113 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Phenylketonuria [RCV000984289]|not provided [RCV000186076] |
Chr12:102917129 [GRCh38]
Chr12:103310907 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.734_735inv (p.Val245Ala) |
inversion |
not provided [RCV000186078] |
Chr12:102852922..102852923 [GRCh38]
Chr12:103246700..103246701 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.800A>T (p.Gln267Leu) |
single nucleotide variant |
Phenylketonuria [RCV000210763] |
Chr12:102852857 [GRCh38]
Chr12:103246635 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.320A>G (p.His107Arg) |
single nucleotide variant |
Phenylketonuria [RCV000210807] |
Chr12:102894767 [GRCh38]
Chr12:103288545 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.1172G>C (p.Ser391Thr) |
single nucleotide variant |
Phenylketonuria [RCV000210788] |
Chr12:102843673 [GRCh38]
Chr12:103237451 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.110T>C (p.Leu37Pro) |
single nucleotide variant |
Phenylketonuria [RCV000210792] |
Chr12:102912849 [GRCh38]
Chr12:103306627 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.875C>T (p.Pro292Leu) |
single nucleotide variant |
Phenylketonuria [RCV000768445] |
Chr12:102851724 [GRCh38]
Chr12:103245502 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.60+1G>C |
single nucleotide variant |
Phenylketonuria [RCV000669188] |
Chr12:102917070 [GRCh38]
Chr12:103310848 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.301G>A (p.Asp101Asn) |
single nucleotide variant |
Phenylketonuria [RCV000669377] |
Chr12:102894786 [GRCh38]
Chr12:103288564 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.*19G>T |
single nucleotide variant |
Phenylketonuria [RCV000538868]|not specified [RCV000252084] |
Chr12:102839156 [GRCh38]
Chr12:103232934 [GRCh37]
Chr12:12q23.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.299A>G (p.His100Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002520783]|Phenylketonuria [RCV000370322]|not provided [RCV002272209]|not specified [RCV001290651] |
Chr12:102894788 [GRCh38]
Chr12:103288566 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.*187G>A |
single nucleotide variant |
Phenylketonuria [RCV000289289]|not provided [RCV001618535] |
Chr12:102838988 [GRCh38]
Chr12:103232766 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.-81C>T |
single nucleotide variant |
Phenylketonuria [RCV000271902]|not provided [RCV001540313] |
Chr12:102917211 [GRCh38]
Chr12:103310989 [GRCh37]
Chr12:12q23.2 |
benign|likely benign |
| NM_000277.3(PAH):c.*772_*775del |
deletion |
Phenylketonuria [RCV000333803] |
Chr12:102838400..102838403 [GRCh38]
Chr12:103232178..103232181 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.*79G>A |
single nucleotide variant |
Phenylketonuria [RCV000344260] |
Chr12:102839096 [GRCh38]
Chr12:103232874 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| Single allele |
single nucleotide variant |
not specified [RCV000385479] |
Chr12:103234328 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.983C>T (p.Thr328Ile) |
single nucleotide variant |
Phenylketonuria [RCV000721175]|not provided [RCV000350174]|not specified [RCV004800371] |
Chr12:102844418 [GRCh38]
Chr12:103238196 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.356C>T (p.Pro119Leu) |
single nucleotide variant |
Phenylketonuria [RCV002519074]|not provided [RCV000385558] |
Chr12:102877547 [GRCh38]
Chr12:103271325 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.1002C>T (p.Cys334=) |
single nucleotide variant |
Phenylketonuria [RCV001093518]|not provided [RCV000317688] |
Chr12:102844399 [GRCh38]
Chr12:103238177 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1003A>G (p.Lys335Glu) |
single nucleotide variant |
Phenylketonuria [RCV002259759]|not provided [RCV000295704] |
Chr12:102844398 [GRCh38]
Chr12:103238176 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.*735T>C |
single nucleotide variant |
Phenylketonuria [RCV000388310] |
Chr12:102838440 [GRCh38]
Chr12:103232218 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.590T>G (p.Leu197Trp) |
single nucleotide variant |
not provided [RCV000300336] |
Chr12:102855252 [GRCh38]
Chr12:103249030 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1210G>C (p.Ala404Pro) |
single nucleotide variant |
not provided [RCV000301874] |
Chr12:102840505 [GRCh38]
Chr12:103234283 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.441T>C (p.Pro147=) |
single nucleotide variant |
Phenylketonuria [RCV001269065] |
Chr12:102877462 [GRCh38]
Chr12:103271240 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.706+5G>A |
single nucleotide variant |
Phenylketonuria [RCV001269069] |
Chr12:102855131 [GRCh38]
Chr12:103248909 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.324_328del (p.Glu108fs) |
deletion |
Phenylketonuria [RCV001269078] |
Chr12:102894759..102894763 [GRCh38]
Chr12:103288537..103288541 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.509+101A>C |
single nucleotide variant |
Phenylketonuria [RCV001269314]|not provided [RCV001673041] |
Chr12:102866495 [GRCh38]
Chr12:103260273 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.352+305del |
deletion |
not provided [RCV001566020] |
Chr12:102894430 [GRCh38]
Chr12:103288208 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1065+9T>G |
single nucleotide variant |
Phenylketonuria [RCV001279861] |
Chr12:102844327 [GRCh38]
Chr12:103238105 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.538A>G (p.Met180Val) |
single nucleotide variant |
Phenylketonuria [RCV001279864] |
Chr12:102855304 [GRCh38]
Chr12:103249082 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.690_691insG (p.Ser231fs) |
insertion |
Phenylketonuria [RCV001269079] |
Chr12:102855151..102855152 [GRCh38]
Chr12:103248929..103248930 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.441+2T>A |
single nucleotide variant |
Phenylketonuria [RCV001269054] |
Chr12:102877460 [GRCh38]
Chr12:103271238 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.223G>C (p.Asp75His) |
single nucleotide variant |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency [RCV004526825]|Phenylketonuria [RCV001269068]|Propionic acidemia [RCV004545164] |
Chr12:102894864 [GRCh38]
Chr12:103288642 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.-73C>G |
single nucleotide variant |
Phenylketonuria [RCV000380921] |
Chr12:102917203 [GRCh38]
Chr12:103310981 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.553_706+647del |
deletion |
Phenylketonuria [RCV000550204] |
Chr12:102854489..102855289 [GRCh38]
Chr12:103248267..103249067 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.2(PAH):c.-232C>G |
single nucleotide variant |
Phenylketonuria [RCV000284663] |
Chr12:102917362 [GRCh38]
Chr12:103311140 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.835C>G (p.Pro279Ala) |
single nucleotide variant |
Phenylketonuria [RCV000551613] |
Chr12:102852822 [GRCh38]
Chr12:103246600 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_004316.4(ASCL1):c.52C>A (p.Pro18Thr) |
single nucleotide variant |
Congenital central hypoventilation [RCV000019998] |
Chr12:102958296 [GRCh38]
Chr12:103352074 [GRCh37]
Chr12:12q23.2 |
pathogenic|uncertain significance |
| NM_001354304.2(PAH):c.-95-385_-95-382del |
deletion |
Phenylketonuria [RCV000371617]|not provided [RCV001618678] |
Chr12:102917607..102917610 [GRCh38]
Chr12:103311385..103311388 [GRCh37]
Chr12:12q23.2 |
benign|likely benign |
| NM_000277.3(PAH):c.71A>G (p.Tyr24Cys) |
single nucleotide variant |
Phenylketonuria [RCV000529284] |
Chr12:102912888 [GRCh38]
Chr12:103306666 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.566C>G (p.Thr189Arg) |
single nucleotide variant |
not specified [RCV000522171] |
Chr12:102855276 [GRCh38]
Chr12:103249054 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.897T>C (p.Phe299=) |
single nucleotide variant |
Phenylketonuria [RCV000341170] |
Chr12:102851702 [GRCh38]
Chr12:103245480 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.2(PAH):c.-460delG |
deletion |
Phenylketonuria [RCV000342028]|not provided [RCV001618536] |
Chr12:102917585 [GRCh38]
Chr12:103311363 [GRCh37]
Chr12:12q23.2 |
benign|likely benign |
| NM_000277.2(PAH):c.-224G>A |
single nucleotide variant |
Phenylketonuria [RCV000376864] |
Chr12:102917354 [GRCh38]
Chr12:103311132 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NC_000012.11:g.(?_103248894)_(103249130_?)del |
deletion |
Phenylketonuria [RCV000531856] |
Chr12:103248894..103249130 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_004316.4(ASCL1):c.138A>T (p.Ala46=) |
single nucleotide variant |
not provided [RCV003390959]|not specified [RCV000220230] |
Chr12:102958382 [GRCh38]
Chr12:103352160 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.607T>A (p.Cys203Ser) |
single nucleotide variant |
not provided [RCV000592101] |
Chr12:102855235 [GRCh38]
Chr12:103249013 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.817T>C (p.Ser273Pro) |
single nucleotide variant |
Phenylketonuria [RCV000758093] |
Chr12:102852840 [GRCh38]
Chr12:103246618 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.859C>G (p.Leu287Val) |
single nucleotide variant |
Phenylketonuria [RCV000758129] |
Chr12:102851740 [GRCh38]
Chr12:103245518 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.352+2dup |
duplication |
Phenylketonuria [RCV000409653] |
Chr12:102894732..102894733 [GRCh38]
Chr12:103288510..103288511 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.790del (p.His264fs) |
deletion |
Phenylketonuria [RCV000409667] |
Chr12:102852867 [GRCh38]
Chr12:103246645 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1147C>T (p.Gln383Ter) |
single nucleotide variant |
Phenylketonuria [RCV000409716] |
Chr12:102843698 [GRCh38]
Chr12:103237476 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.970-1G>C |
single nucleotide variant |
Phenylketonuria [RCV003316802]|not provided [RCV000731213] |
Chr12:102844432 [GRCh38]
Chr12:103238210 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.992T>C (p.Phe331Ser) |
single nucleotide variant |
Phenylketonuria [RCV000410352] |
Chr12:102844409 [GRCh38]
Chr12:103238187 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.1282C>T (p.Gln428Ter) |
single nucleotide variant |
Phenylketonuria [RCV000410471]|not provided [RCV000759177] |
Chr12:102840433 [GRCh38]
Chr12:103234211 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.745del (p.Leu249fs) |
deletion |
Phenylketonuria [RCV000410522] |
Chr12:102852912 [GRCh38]
Chr12:103246690 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.329del (p.Ser110fs) |
deletion |
Phenylketonuria [RCV000410526] |
Chr12:102894758 [GRCh38]
Chr12:103288536 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.1298dup (p.Leu433fs) |
duplication |
Phenylketonuria [RCV000410563] |
Chr12:102840416..102840417 [GRCh38]
Chr12:103234194..103234195 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1315+1G>T |
single nucleotide variant |
Phenylketonuria [RCV000410802] |
Chr12:102840399 [GRCh38]
Chr12:103234177 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.498C>G (p.Tyr166Ter) |
single nucleotide variant |
Phenylketonuria [RCV000410899] |
Chr12:102866607 [GRCh38]
Chr12:103260385 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_004316.4(ASCL1):c.123A>G (p.Ala41=) |
single nucleotide variant |
ASCL1-related disorder [RCV003917598]|not provided [RCV003390893]|not specified [RCV000173336] |
Chr12:102958367 [GRCh38]
Chr12:103352145 [GRCh37]
Chr12:12q23.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004316.4(ASCL1):c.151CAG[4] (p.Gln55_Gln62del) |
microsatellite |
ASCL1-related disorder [RCV004758049]|not specified [RCV000733534] |
Chr12:102958394..102958417 [GRCh38]
Chr12:103352172..103352195 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.289A>C (p.Ile97Leu) |
single nucleotide variant |
Phenylketonuria [RCV000664524]|not provided [RCV000430873]|not specified [RCV002265754] |
Chr12:102894798 [GRCh38]
Chr12:103288576 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.901C>A (p.Gln301Lys) |
single nucleotide variant |
not provided [RCV000436688] |
Chr12:102851698 [GRCh38]
Chr12:103245476 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)x3 |
copy number gain |
See cases [RCV000445929] |
Chr12:100580198..105804075 [GRCh37]
Chr12:12q23.1-23.3 |
uncertain significance |
| GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)x1 |
copy number loss |
See cases [RCV000445832] |
Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11 |
likely pathogenic |
| NM_000277.3(PAH):c.757G>A (p.Asp253Asn) |
single nucleotide variant |
Phenylketonuria [RCV000984203]|not provided [RCV000484615] |
Chr12:102852900 [GRCh38]
Chr12:103246678 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_000277.3(PAH):c.637C>T (p.Leu213Phe) |
single nucleotide variant |
Phenylketonuria [RCV000672958]|not provided [RCV000493939] |
Chr12:102855205 [GRCh38]
Chr12:103248983 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.978G>A (p.Trp326Ter) |
single nucleotide variant |
not provided [RCV000506068] |
Chr12:102844423 [GRCh38]
Chr12:103238201 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1316-2A>G |
single nucleotide variant |
Phenylketonuria [RCV003479144]|not specified [RCV000506381] |
Chr12:102839220 [GRCh38]
Chr12:103232998 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.442-18G>A |
single nucleotide variant |
Phenylketonuria [RCV000665023]|not specified [RCV000506444] |
Chr12:102866681 [GRCh38]
Chr12:103260459 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.842+4A>G |
single nucleotide variant |
Phenylketonuria [RCV000721176]|not provided [RCV004719845]|not specified [RCV000506590] |
Chr12:102852811 [GRCh38]
Chr12:103246589 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.1089G>C (p.Lys363Asn) |
single nucleotide variant |
Phenylketonuria [RCV000669869]|not specified [RCV001526923] |
Chr12:102843756 [GRCh38]
Chr12:103237534 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.226G>T (p.Glu76Ter) |
single nucleotide variant |
Phenylketonuria [RCV000590560] |
Chr12:102894861 [GRCh38]
Chr12:103288639 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.800A>G (p.Gln267Arg) |
single nucleotide variant |
Phenylketonuria [RCV000672289] |
Chr12:102852857 [GRCh38]
Chr12:103246635 [GRCh37]
Chr12:12q23.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.707-12_711del |
deletion |
Phenylketonuria [RCV000632883] |
Chr12:102852946..102852962 [GRCh38]
Chr12:103246724..103246740 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NC_000012.12:g.(?_102854491)_(102855289_?)del |
deletion |
Phenylketonuria [RCV000632884] |
Chr12:102854491..102855289 [GRCh38]
Chr12:103248269..103249067 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NC_000012.12:g.(?_102866576)_(102866683_?)del |
deletion |
Phenylketonuria [RCV000632885] |
Chr12:102866576..102866683 [GRCh38]
Chr12:103260354..103260461 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.586T>A (p.Ser196Thr) |
single nucleotide variant |
Phenylketonuria [RCV003316900] |
Chr12:102855256 [GRCh38]
Chr12:103249034 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.127G>T (p.Glu43Ter) |
single nucleotide variant |
Phenylketonuria [RCV000673220] |
Chr12:102912832 [GRCh38]
Chr12:103306610 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.880T>A (p.Phe294Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003352994]|Phenylketonuria [RCV000700907] |
Chr12:102851719 [GRCh38]
Chr12:103245497 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.668A>T (p.Asn223Ile) |
single nucleotide variant |
PAH-related disorder [RCV003420168]|Phenylketonuria [RCV000664486]|not specified [RCV004800513] |
Chr12:102855174 [GRCh38]
Chr12:103248952 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.379G>A (p.Glu127Lys) |
single nucleotide variant |
Phenylketonuria [RCV000664540] |
Chr12:102877524 [GRCh38]
Chr12:103271302 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.-66_-65del |
deletion |
Phenylketonuria [RCV000664757] |
Chr12:102917195..102917196 [GRCh38]
Chr12:103310973..103310974 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.307G>T (p.Gly103Cys) |
single nucleotide variant |
Phenylketonuria [RCV000669128]|not specified [RCV004689843] |
Chr12:102894780 [GRCh38]
Chr12:103288558 [GRCh37]
Chr12:12q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.169-2A>G |
single nucleotide variant |
Phenylketonuria [RCV000670987] |
Chr12:102894920 [GRCh38]
Chr12:103288698 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1314_1315+4del |
deletion |
Phenylketonuria [RCV000671688] |
Chr12:102840396..102840401 [GRCh38]
Chr12:103234174..103234179 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.307G>A (p.Gly103Ser) |
single nucleotide variant |
Phenylketonuria [RCV000667147] |
Chr12:102894780 [GRCh38]
Chr12:103288558 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.339GAA[1] (p.Lys115del) |
microsatellite |
Phenylketonuria [RCV000668153] |
Chr12:102894743..102894745 [GRCh38]
Chr12:103288521..103288523 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.913-2A>C |
single nucleotide variant |
Phenylketonuria [RCV000668382] |
Chr12:102846953 [GRCh38]
Chr12:103240731 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.910C>T (p.Gln304Ter) |
single nucleotide variant |
Phenylketonuria [RCV000674358] |
Chr12:102851689 [GRCh38]
Chr12:103245467 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.352+11G>C |
single nucleotide variant |
Phenylketonuria [RCV000666863] |
Chr12:102894724 [GRCh38]
Chr12:103288502 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.505C>G (p.Arg169Gly) |
single nucleotide variant |
Phenylketonuria [RCV000666071] |
Chr12:102866600 [GRCh38]
Chr12:103260378 [GRCh37]
Chr12:12q23.2 |
pathogenic|uncertain significance |
| NM_000277.3(PAH):c.1149del (p.Gln383fs) |
deletion |
Phenylketonuria [RCV001246796] |
Chr12:102843696 [GRCh38]
Chr12:103237474 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1199+2T>G |
single nucleotide variant |
Phenylketonuria [RCV000673497] |
Chr12:102843644 [GRCh38]
Chr12:103237422 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.689T>C (p.Val230Ala) |
single nucleotide variant |
Phenylketonuria [RCV000673567] |
Chr12:102855153 [GRCh38]
Chr12:103248931 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.463C>T (p.Arg155Cys) |
single nucleotide variant |
Phenylketonuria [RCV000669560] |
Chr12:102866642 [GRCh38]
Chr12:103260420 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.124_126del (p.Lys42del) |
deletion |
Phenylketonuria [RCV000667507] |
Chr12:102912833..102912835 [GRCh38]
Chr12:103306611..103306613 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.470_471delinsAC (p.Arg157Asn) |
indel |
PAH-related disorder [RCV004723137]|Phenylketonuria [RCV000721919] |
Chr12:102866634..102866635 [GRCh38]
Chr12:103260412..103260413 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.1247C>A (p.Pro416Gln) |
single nucleotide variant |
Phenylketonuria [RCV000674315] |
Chr12:102840468 [GRCh38]
Chr12:103234246 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.523C>T (p.Pro175Ser) |
single nucleotide variant |
Phenylketonuria [RCV000671178] |
Chr12:102855319 [GRCh38]
Chr12:103249097 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.443G>T (p.Gly148Val) |
single nucleotide variant |
Phenylketonuria [RCV000667958] |
Chr12:102866662 [GRCh38]
Chr12:103260440 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) |
single nucleotide variant |
Phenylketonuria [RCV000672872] |
Chr12:102843771 [GRCh38]
Chr12:103237549 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.1144T>C (p.Phe382Leu) |
single nucleotide variant |
Phenylketonuria [RCV000672945] |
Chr12:102843701 [GRCh38]
Chr12:103237479 [GRCh37]
Chr12:12q23.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.353-7_353-5dup |
duplication |
Phenylketonuria [RCV000668138] |
Chr12:102877554..102877555 [GRCh38]
Chr12:103271332..103271333 [GRCh37]
Chr12:12q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.1218A>G (p.Ile406Met) |
single nucleotide variant |
Phenylketonuria [RCV000668256]|not provided [RCV000985880] |
Chr12:102840497 [GRCh38]
Chr12:103234275 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.1150C>T (p.Pro384Ser) |
single nucleotide variant |
Phenylketonuria [RCV000666283]|not specified [RCV001779045] |
Chr12:102843695 [GRCh38]
Chr12:103237473 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1330C>T (p.Leu444Phe) |
single nucleotide variant |
Phenylketonuria [RCV000666307] |
Chr12:102839204 [GRCh38]
Chr12:103232982 [GRCh37]
Chr12:12q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.1293_1294del (p.Lys431fs) |
deletion |
Phenylketonuria [RCV000666334] |
Chr12:102840421..102840422 [GRCh38]
Chr12:103234199..103234200 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.870T>G (p.His290Gln) |
single nucleotide variant |
Phenylketonuria [RCV000674910] |
Chr12:102851729 [GRCh38]
Chr12:103245507 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.1209del (p.Ala404fs) |
deletion |
Phenylketonuria [RCV000674210] |
Chr12:102840506 [GRCh38]
Chr12:103234284 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.618C>A (p.Tyr206Ter) |
single nucleotide variant |
Phenylketonuria [RCV000672692] |
Chr12:102855224 [GRCh38]
Chr12:103249002 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1171_1172del (p.Ser391fs) |
microsatellite |
Phenylketonuria [RCV000669075] |
Chr12:102843673..102843674 [GRCh38]
Chr12:103237451..103237452 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.610dup (p.Tyr204fs) |
duplication |
Phenylketonuria [RCV000666269] |
Chr12:102855231..102855232 [GRCh38]
Chr12:103249009..103249010 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.587C>A (p.Ser196Tyr) |
single nucleotide variant |
Phenylketonuria [RCV000672941] |
Chr12:102855255 [GRCh38]
Chr12:103249033 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.441+1G>C |
single nucleotide variant |
Phenylketonuria [RCV000672959] |
Chr12:102877461 [GRCh38]
Chr12:103271239 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.828G>A (p.Met276Ile) |
single nucleotide variant |
Phenylketonuria [RCV000666601] |
Chr12:102852829 [GRCh38]
Chr12:103246607 [GRCh37]
Chr12:12q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.510-2A>G |
single nucleotide variant |
Phenylketonuria [RCV000666780] |
Chr12:102855334 [GRCh38]
Chr12:103249112 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.1180del (p.Asp394fs) |
deletion |
Phenylketonuria [RCV000666841] |
Chr12:102843665 [GRCh38]
Chr12:103237443 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.65C>A (p.Thr22Lys) |
single nucleotide variant |
Phenylketonuria [RCV000664768]|not specified [RCV002265840] |
Chr12:102912894 [GRCh38]
Chr12:103306672 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.969+7C>T |
single nucleotide variant |
Phenylketonuria [RCV000664935] |
Chr12:102846888 [GRCh38]
Chr12:103240666 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) |
single nucleotide variant |
Phenylketonuria [RCV000666644] |
Chr12:102840430 [GRCh38]
Chr12:103234208 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.1069T>C (p.Cys357Arg) |
single nucleotide variant |
Phenylketonuria [RCV000667720] |
Chr12:102843776 [GRCh38]
Chr12:103237554 [GRCh37]
Chr12:12q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.1256A>G (p.Gln419Arg) |
single nucleotide variant |
Phenylketonuria [RCV000667759] |
Chr12:102840459 [GRCh38]
Chr12:103234237 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.1153del (p.Leu385fs) |
deletion |
Phenylketonuria [RCV000704392] |
Chr12:102843692 [GRCh38]
Chr12:103237470 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.3G>C (p.Met1Ile) |
single nucleotide variant |
Phenylketonuria [RCV000709702] |
Chr12:102917128 [GRCh38]
Chr12:103310906 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.60+62C>T |
single nucleotide variant |
PAH-related disorder [RCV003980322]|Phenylketonuria [RCV000709703]|not provided [RCV001598678]|not specified [RCV001703234] |
Chr12:102917009 [GRCh38]
Chr12:103310787 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|benign|conflicting interpretations of pathogenicity |
| NM_000277.3(PAH):c.782G>T (p.Arg261Leu) |
single nucleotide variant |
Phenylketonuria [RCV000709704] |
Chr12:102852875 [GRCh38]
Chr12:103246653 [GRCh37]
Chr12:12q23.2 |
pathogenic|uncertain significance |
| NM_000277.3(PAH):c.686dup (p.Asp229fs) |
duplication |
Phenylketonuria [RCV000699420] |
Chr12:102855155..102855156 [GRCh38]
Chr12:103248933..103248934 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NC_000012.12:g.(?_102894715)_(102894938_?)del |
deletion |
Phenylketonuria [RCV004578359] |
Chr12:102894715..102894938 [GRCh38]
Chr12:103288493..103288716 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.772C>T (p.Leu258=) |
single nucleotide variant |
Inborn genetic diseases [RCV002397498]|PAH-related disorder [RCV003965498]|Phenylketonuria [RCV000721180]|not provided [RCV003478450] |
Chr12:102852885 [GRCh38]
Chr12:103246663 [GRCh37]
Chr12:12q23.2 |
benign|likely benign |
| NM_000277.3(PAH):c.1099C>G (p.Leu367Val) |
single nucleotide variant |
Phenylketonuria [RCV000758105] |
Chr12:102843746 [GRCh38]
Chr12:103237524 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.773T>C (p.Leu258Pro) |
single nucleotide variant |
Phenylketonuria [RCV000758119] |
Chr12:102852884 [GRCh38]
Chr12:103246662 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.694C>G (p.Gln232Glu) |
single nucleotide variant |
Phenylketonuria [RCV000758123] |
Chr12:102855148 [GRCh38]
Chr12:103248926 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.803A>G (p.Tyr268Cys) |
single nucleotide variant |
Phenylketonuria [RCV000758130] |
Chr12:102852854 [GRCh38]
Chr12:103246632 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.362T>C (p.Phe121Ser) |
single nucleotide variant |
Phenylketonuria [RCV000758109] |
Chr12:102877541 [GRCh38]
Chr12:103271319 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.788T>C (p.Phe263Ser) |
single nucleotide variant |
Phenylketonuria [RCV000758097] |
Chr12:102852869 [GRCh38]
Chr12:103246647 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.224A>G (p.Asp75Gly) |
single nucleotide variant |
Phenylketonuria [RCV000758118] |
Chr12:102894863 [GRCh38]
Chr12:103288641 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.470G>C (p.Arg157Thr) |
single nucleotide variant |
Phenylketonuria [RCV000758125] |
Chr12:102866635 [GRCh38]
Chr12:103260413 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12q22-23.2(chr12:94881995-103635998)x3 |
copy number gain |
not provided [RCV000750524] |
Chr12:94881995..103635998 [GRCh37]
Chr12:12q22-23.2 |
pathogenic |
| NM_000277.3(PAH):c.1282del (p.Gln428fs) |
deletion |
Phenylketonuria [RCV001543643] |
Chr12:102840433 [GRCh38]
Chr12:103234211 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.198A>G (p.Glu66=) |
single nucleotide variant |
Phenylketonuria [RCV001272956] |
Chr12:102894889 [GRCh38]
Chr12:103288667 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.352+164T>A |
single nucleotide variant |
not provided [RCV001681482] |
Chr12:102894571 [GRCh38]
Chr12:103288349 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.813T>G (p.His271Gln) |
single nucleotide variant |
Phenylketonuria [RCV000758104] |
Chr12:102852844 [GRCh38]
Chr12:103246622 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.136G>C (p.Gly46Arg) |
single nucleotide variant |
Phenylketonuria [RCV000758110] |
Chr12:102912823 [GRCh38]
Chr12:103306601 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1100T>G (p.Leu367Arg) |
single nucleotide variant |
Phenylketonuria [RCV000758124] |
Chr12:102843745 [GRCh38]
Chr12:103237523 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_004316.4(ASCL1):c.-197T>C |
single nucleotide variant |
not provided [RCV001611929] |
Chr12:102958048 [GRCh38]
Chr12:103351826 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.60+299C>G |
single nucleotide variant |
not provided [RCV001566718] |
Chr12:102916772 [GRCh38]
Chr12:103310550 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.(?_169)_352+?del |
deletion |
Phenylketonuria [RCV000760970] |
Chr12:102894735..102894918 [GRCh38]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.934G>C (p.Gly312Arg) |
single nucleotide variant |
Phenylketonuria [RCV000758102]|not specified [RCV003387922] |
Chr12:102846930 [GRCh38]
Chr12:103240708 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.176A>T (p.Asp59Val) |
single nucleotide variant |
Phenylketonuria [RCV000758107]|not specified [RCV003235382] |
Chr12:102894911 [GRCh38]
Chr12:103288689 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.224A>T (p.Asp75Val) |
single nucleotide variant |
Phenylketonuria [RCV000758113] |
Chr12:102894863 [GRCh38]
Chr12:103288641 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.712A>G (p.Thr238Ala) |
single nucleotide variant |
Phenylketonuria [RCV000758131] |
Chr12:102852945 [GRCh38]
Chr12:103246723 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.60+28del |
deletion |
not provided [RCV000759179] |
Chr12:102917043 [GRCh38]
Chr12:103310821 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.461A>T (p.Tyr154Phe) |
single nucleotide variant |
Phenylketonuria [RCV001093514]|not provided [RCV000759178] |
Chr12:102866644 [GRCh38]
Chr12:103260422 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.184C>G (p.Leu62Val) |
single nucleotide variant |
Phenylketonuria [RCV000758095] |
Chr12:102894903 [GRCh38]
Chr12:103288681 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.697T>A (p.Phe233Ile) |
single nucleotide variant |
Phenylketonuria [RCV000758127] |
Chr12:102855145 [GRCh38]
Chr12:103248923 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1216A>G (p.Ile406Val) |
single nucleotide variant |
Phenylketonuria [RCV000758135] |
Chr12:102840499 [GRCh38]
Chr12:103234277 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.189_190dup (p.His64fs) |
duplication |
Phenylketonuria [RCV000993630] |
Chr12:102894896..102894897 [GRCh38]
Chr12:103288674..103288675 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.707-2del |
deletion |
Phenylketonuria [RCV000993636] |
Chr12:102852952 [GRCh38]
Chr12:103246730 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.890G>T (p.Arg297Leu) |
single nucleotide variant |
Phenylketonuria [RCV000993640] |
Chr12:102851709 [GRCh38]
Chr12:103245487 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.901C>T (p.Gln301Ter) |
single nucleotide variant |
Phenylketonuria [RCV000993641] |
Chr12:102851698 [GRCh38]
Chr12:103245476 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.903G>T (p.Gln301His) |
single nucleotide variant |
Phenylketonuria [RCV000993643] |
Chr12:102851696 [GRCh38]
Chr12:103245474 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.168+1G>T |
single nucleotide variant |
Phenylketonuria [RCV000993644] |
Chr12:102912790 [GRCh38]
Chr12:103306568 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.75T>C (p.Ile25=) |
single nucleotide variant |
Phenylketonuria [RCV001427047] |
Chr12:102912884 [GRCh38]
Chr12:103306662 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.681G>A (p.Leu227=) |
single nucleotide variant |
Phenylketonuria [RCV000884592] |
Chr12:102855161 [GRCh38]
Chr12:103248939 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.424C>T (p.Leu142=) |
single nucleotide variant |
Phenylketonuria [RCV000925596] |
Chr12:102877479 [GRCh38]
Chr12:103271257 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NC_000012.12:g.(?_102866586)_(102866673_?)del |
deletion |
Phenylketonuria [RCV001033316] |
Chr12:103260364..103260451 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1200-2A>G |
single nucleotide variant |
Phenylketonuria [RCV001069317] |
Chr12:102840517 [GRCh38]
Chr12:103234295 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NC_000012.12:g.(?_102894725)_(102894931_?)del |
deletion |
Phenylketonuria [RCV001032254] |
Chr12:103288503..103288709 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.969+9C>G |
single nucleotide variant |
PAH-related disorder [RCV003950673]|Phenylketonuria [RCV003495199] |
Chr12:102846886 [GRCh38]
Chr12:103240664 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.894C>T (p.Ser298=) |
single nucleotide variant |
Phenylketonuria [RCV000980603] |
Chr12:102851705 [GRCh38]
Chr12:103245483 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.693T>C (p.Ser231=) |
single nucleotide variant |
Phenylketonuria [RCV001489781] |
Chr12:102855149 [GRCh38]
Chr12:103248927 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.42A>G (p.Lys14=) |
single nucleotide variant |
Phenylketonuria [RCV002065659] |
Chr12:102917089 [GRCh38]
Chr12:103310867 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.381G>A (p.Glu127=) |
single nucleotide variant |
Phenylketonuria [RCV001402021] |
Chr12:102877522 [GRCh38]
Chr12:103271300 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.456T>C (p.Pro152=) |
single nucleotide variant |
Phenylketonuria [RCV000899868] |
Chr12:102866649 [GRCh38]
Chr12:103260427 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.399T>C (p.Asn133=) |
single nucleotide variant |
Inborn genetic diseases [RCV003307675]|Phenylketonuria [RCV000904703] |
Chr12:102877504 [GRCh38]
Chr12:103271282 [GRCh37]
Chr12:12q23.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000277.3(PAH):c.1161C>T (p.Tyr387=) |
single nucleotide variant |
Phenylketonuria [RCV000872521]|not provided [RCV001800901]|not specified [RCV001194093] |
Chr12:102843684 [GRCh38]
Chr12:103237462 [GRCh37]
Chr12:12q23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.799C>T (p.Gln267Ter) |
single nucleotide variant |
Phenylketonuria [RCV000823427] |
Chr12:102852858 [GRCh38]
Chr12:103246636 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1123C>G (p.Gln375Glu) |
single nucleotide variant |
Phenylketonuria [RCV000817803] |
Chr12:102843722 [GRCh38]
Chr12:103237500 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1304A>T (p.Asp435Val) |
single nucleotide variant |
Phenylketonuria [RCV000796569] |
Chr12:102840411 [GRCh38]
Chr12:103234189 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_004316.4(ASCL1):c.151CAG[17] (p.Gln62_Ala63insGlnGlnGlnGlnGln) |
microsatellite |
ASCL1-related disorder [RCV003905284]|not provided [RCV004691771]|not specified [RCV000150164] |
Chr12:102958393..102958394 [GRCh38]
Chr12:103352171..103352172 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.30dup (p.Arg13fs) |
duplication |
Phenylketonuria [RCV000993595] |
Chr12:102917100..102917101 [GRCh38]
Chr12:103310878..103310879 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.134T>C (p.Val45Ala) |
single nucleotide variant |
Phenylketonuria [RCV000993626] |
Chr12:102912825 [GRCh38]
Chr12:103306603 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_004316.4(ASCL1):c.151CAG[15] (p.Gln62_Ala63insGlnGlnGln) |
microsatellite |
not provided [RCV001610457]|not specified [RCV000150165] |
Chr12:102958393..102958394 [GRCh38]
Chr12:103352171..103352172 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.1085C>G (p.Pro362Arg) |
single nucleotide variant |
Phenylketonuria [RCV000988898] |
Chr12:102843760 [GRCh38]
Chr12:103237538 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1066-10_1070del |
deletion |
Phenylketonuria [RCV000816461] |
Chr12:102843775..102843789 [GRCh38]
Chr12:103237553..103237567 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1316-1G>A |
single nucleotide variant |
Phenylketonuria [RCV000851536] |
Chr12:102839219 [GRCh38]
Chr12:103232997 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_004316.4(ASCL1):c.151CAG[11] (p.Gln62del) |
microsatellite |
not specified [RCV000213980] |
Chr12:102958394..102958396 [GRCh38]
Chr12:103352172..103352174 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln) |
microsatellite |
ASCL1-related disorder [RCV003977619]|not specified [RCV000222706] |
Chr12:102958393..102958394 [GRCh38]
Chr12:103352171..103352172 [GRCh37]
Chr12:12q23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004316.4(ASCL1):c.151CAG[13] (p.Gln62_Ala63insGln) |
microsatellite |
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease [RCV003993838]|not provided [RCV001707542]|not specified [RCV000156155] |
Chr12:102958393..102958394 [GRCh38]
Chr12:103352171..103352172 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.223G>A (p.Asp75Asn) |
single nucleotide variant |
Phenylketonuria [RCV000805522] |
Chr12:102894864 [GRCh38]
Chr12:103288642 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.47_48insCT (p.Asp17fs) |
insertion |
Phenylketonuria [RCV000993597] |
Chr12:102917083..102917084 [GRCh38]
Chr12:103310861..103310862 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.47C>A (p.Ser16Tyr) |
single nucleotide variant |
Phenylketonuria [RCV000993598] |
Chr12:102917084 [GRCh38]
Chr12:103310862 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.266_267insG (p.Ala90fs) |
insertion |
Phenylketonuria [RCV000993633] |
Chr12:102894820..102894821 [GRCh38]
Chr12:103288598..103288599 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.292T>G (p.Leu98Val) |
single nucleotide variant |
Phenylketonuria [RCV000993634] |
Chr12:102894795 [GRCh38]
Chr12:103288573 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.494C>A (p.Ala165Asp) |
single nucleotide variant |
Phenylketonuria [RCV000993635] |
Chr12:102866611 [GRCh38]
Chr12:103260389 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.168+2T>C |
single nucleotide variant |
Phenylketonuria [RCV000993645] |
Chr12:102912789 [GRCh38]
Chr12:103306567 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.60+5_60+6del |
deletion |
Phenylketonuria [RCV000993646] |
Chr12:102917065..102917066 [GRCh38]
Chr12:103310843..103310844 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_004316.4(ASCL1):c.151CAG[8] (p.Gln59_Gln62del) |
microsatellite |
ASCL1-related disorder [RCV004757982]|Phenylketonuria [RCV002503940] |
Chr12:102958394..102958405 [GRCh38]
Chr12:103352172..103352183 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_004316.4(ASCL1):c.151CAG[9] (p.Gln60_Gln62del) |
microsatellite |
not provided [RCV001529375]|not specified [RCV000248002] |
Chr12:102958394..102958402 [GRCh38]
Chr12:103352172..103352180 [GRCh37]
Chr12:12q23.2 |
benign|likely benign |
| NM_004316.4(ASCL1):c.151CAG[7] (p.Gln58_Gln62del) |
microsatellite |
ASCL1-related disorder [RCV003891703]|not provided [RCV001356106]|not specified [RCV000173334] |
Chr12:102958394..102958408 [GRCh38]
Chr12:103352172..103352186 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.239dup (p.Thr81fs) |
duplication |
Phenylketonuria [RCV000988899] |
Chr12:102894847..102894848 [GRCh38]
Chr12:103288625..103288626 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.280A>G (p.Ile94Val) |
single nucleotide variant |
PAH-related disorder [RCV004740571]|Phenylketonuria [RCV001114785]|not specified [RCV003226435] |
Chr12:102894807 [GRCh38]
Chr12:103288585 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1262T>G (p.Ile421Ser) |
single nucleotide variant |
Phenylketonuria [RCV000792932]|not specified [RCV004702423] |
Chr12:102840453 [GRCh38]
Chr12:103234231 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NC_000012.12:g.(?_102855126)_(102855342_?)del |
deletion |
Phenylketonuria [RCV000796128] |
Chr12:102855126..102855342 [GRCh38]
Chr12:103248904..103249120 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.516G>T (p.Gln172His) |
single nucleotide variant |
Inborn genetic diseases [RCV003243346]|PAH-related disorder [RCV004740460]|Phenylketonuria [RCV000822749]|not provided [RCV001574524] |
Chr12:102855326 [GRCh38]
Chr12:103249104 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NC_000012.12:g.(?_102917061)_(102917140_?)del |
deletion |
Phenylketonuria [RCV000801361] |
Chr12:102917061..102917140 [GRCh38]
Chr12:103310839..103310918 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_004316.4(ASCL1):c.151CAG[14] (p.Gln62_Ala63insGlnGln) |
microsatellite |
not specified [RCV000156373] |
Chr12:102958393..102958394 [GRCh38]
Chr12:103352171..103352172 [GRCh37]
Chr12:12q23.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000277.3(PAH):c.*144A>G |
single nucleotide variant |
PAH-related disorder [RCV003948002]|Phenylketonuria [RCV000814338] |
Chr12:102839031 [GRCh38]
Chr12:103232809 [GRCh37]
Chr12:12q23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.353-1G>A |
single nucleotide variant |
Phenylketonuria [RCV001061595] |
Chr12:102877551 [GRCh38]
Chr12:103271329 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.43_44insAG (p.Leu15fs) |
insertion |
Phenylketonuria [RCV000993596] |
Chr12:102917087..102917088 [GRCh38]
Chr12:103310865..103310866 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.48dup (p.Asp17Ter) |
duplication |
Phenylketonuria [RCV000993599] |
Chr12:102917082..102917083 [GRCh38]
Chr12:103310860..103310861 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.868C>T (p.His290Tyr) |
single nucleotide variant |
Phenylketonuria [RCV000993602] |
Chr12:102851731 [GRCh38]
Chr12:103245509 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.171_172del (p.Glu57_Asn58insTer) |
microsatellite |
Phenylketonuria [RCV000993627] |
Chr12:102894915..102894916 [GRCh38]
Chr12:103288693..103288694 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.184_185insCTGA (p.Leu62fs) |
insertion |
Phenylketonuria [RCV000993628] |
Chr12:102894902..102894903 [GRCh38]
Chr12:103288680..103288681 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.190_194del (p.Thr63_His64insTer) |
deletion |
Phenylketonuria [RCV000993631] |
Chr12:102894893..102894897 [GRCh38]
Chr12:103288671..103288675 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.886G>C (p.Asp296His) |
single nucleotide variant |
Phenylketonuria [RCV000993639] |
Chr12:102851713 [GRCh38]
Chr12:103245491 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1200-2A>C |
single nucleotide variant |
Phenylketonuria [RCV000850221] |
Chr12:102840517 [GRCh38]
Chr12:103234295 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.32T>A (p.Leu11Ter) |
single nucleotide variant |
Phenylketonuria [RCV000850222] |
Chr12:102917099 [GRCh38]
Chr12:103310877 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.590T>A (p.Leu197Ter) |
single nucleotide variant |
Phenylketonuria [RCV000850223] |
Chr12:102855252 [GRCh38]
Chr12:103249030 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1102G>A (p.Glu368Lys) |
single nucleotide variant |
Phenylketonuria [RCV000850224] |
Chr12:102843743 [GRCh38]
Chr12:103237521 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.1109A>G (p.Glu370Gly) |
single nucleotide variant |
Phenylketonuria [RCV000850225] |
Chr12:102843736 [GRCh38]
Chr12:103237514 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs) |
insertion |
Phenylketonuria [RCV000988897] |
Chr12:102843746..102843747 [GRCh38]
Chr12:103237524..103237525 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_004316.4(ASCL1):c.121G>T (p.Ala41Ser) |
single nucleotide variant |
Hereditary cancer [RCV003492194]|not provided [RCV002225775] |
Chr12:102958365 [GRCh38]
Chr12:103352143 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.346_347del (p.Asp116fs) |
deletion |
Phenylketonuria [RCV000851537] |
Chr12:102894740..102894741 [GRCh38]
Chr12:103288518..103288519 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.60+4A>T |
single nucleotide variant |
Phenylketonuria [RCV000993601] |
Chr12:102917067 [GRCh38]
Chr12:103310845 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.184del (p.Asn61_Leu62insTer) |
deletion |
Phenylketonuria [RCV000993629] |
Chr12:102894903 [GRCh38]
Chr12:103288681 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1066-9G>A |
single nucleotide variant |
Phenylketonuria [RCV001113391] |
Chr12:102843788 [GRCh38]
Chr12:103237566 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.656T>C (p.Phe219Ser) |
single nucleotide variant |
Phenylketonuria [RCV001200012] |
Chr12:102855186 [GRCh38]
Chr12:103248964 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.253A>T (p.Lys85Ter) |
single nucleotide variant |
Phenylketonuria [RCV001199993] |
Chr12:102894834 [GRCh38]
Chr12:103288612 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1235T>G (p.Val412Gly) |
single nucleotide variant |
Phenylketonuria [RCV001199997] |
Chr12:102840480 [GRCh38]
Chr12:103234258 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.659A>C (p.His220Pro) |
single nucleotide variant |
Phenylketonuria [RCV001200013] |
Chr12:102855183 [GRCh38]
Chr12:103248961 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.791A>G (p.His264Arg) |
single nucleotide variant |
Phenylketonuria [RCV001224584] |
Chr12:102852866 [GRCh38]
Chr12:103246644 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.968C>T (p.Thr323Ile) |
single nucleotide variant |
Phenylketonuria [RCV001199983] |
Chr12:102846896 [GRCh38]
Chr12:103240674 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1043T>C (p.Leu348Pro) |
single nucleotide variant |
Phenylketonuria [RCV001199977] |
Chr12:102844358 [GRCh38]
Chr12:103238136 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.510T>G (p.His170Gln) |
single nucleotide variant |
Phenylketonuria [RCV001215065] |
Chr12:102855332 [GRCh38]
Chr12:103249110 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.801del (p.Gln267fs) |
deletion |
Phenylketonuria [RCV001221995] |
Chr12:102852856 [GRCh38]
Chr12:103246634 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.969+2T>G |
single nucleotide variant |
Phenylketonuria [RCV001204516] |
Chr12:102846893 [GRCh38]
Chr12:103240671 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| GRCh37/hg19 12q23.2-23.3(chr12:102414522-105845768)x1 |
copy number loss |
not provided [RCV000846678] |
Chr12:102414522..105845768 [GRCh37]
Chr12:12q23.2-23.3 |
uncertain significance |
| NM_000277.3(PAH):c.994G>A (p.Gly332Arg) |
single nucleotide variant |
Phenylketonuria [RCV003316901] |
Chr12:102844407 [GRCh38]
Chr12:103238185 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.842+6T>A |
single nucleotide variant |
Phenylketonuria [RCV000993638] |
Chr12:102852809 [GRCh38]
Chr12:103246587 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.902A>C (p.Gln301Pro) |
single nucleotide variant |
Phenylketonuria [RCV000993642] |
Chr12:102851697 [GRCh38]
Chr12:103245475 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.280_283del (p.Ile94fs) |
deletion |
Phenylketonuria [RCV003316904] |
Chr12:102894804..102894807 [GRCh38]
Chr12:103288582..103288585 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.302A>G (p.Asp101Gly) |
single nucleotide variant |
not specified [RCV001175456] |
Chr12:102894785 [GRCh38]
Chr12:103288563 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.*42A>G |
single nucleotide variant |
Phenylketonuria [RCV001111389] |
Chr12:102839133 [GRCh38]
Chr12:103232911 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.677_686del (p.Gln226fs) |
deletion |
not provided [RCV001092607] |
Chr12:102855156..102855165 [GRCh38]
Chr12:103248934..103248943 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1215_1219del (p.Ile406fs) |
deletion |
Phenylketonuria [RCV001199995] |
Chr12:102840496..102840500 [GRCh38]
Chr12:103234274..103234278 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.976del (p.Trp326fs) |
deletion |
Phenylketonuria [RCV001200003] |
Chr12:102844425 [GRCh38]
Chr12:103238203 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.970-1G>T |
single nucleotide variant |
Phenylketonuria [RCV001200007] |
Chr12:102844432 [GRCh38]
Chr12:103238210 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1318G>T (p.Glu440Ter) |
single nucleotide variant |
Phenylketonuria [RCV001200010] |
Chr12:102839216 [GRCh38]
Chr12:103232994 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1118C>A (p.Ala373Asp) |
single nucleotide variant |
Phenylketonuria [RCV001199986] |
Chr12:102843727 [GRCh38]
Chr12:103237505 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.795C>A (p.Cys265Ter) |
single nucleotide variant |
Phenylketonuria [RCV001199984] |
Chr12:102852862 [GRCh38]
Chr12:103246640 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1124A>G (p.Gln375Arg) |
single nucleotide variant |
Phenylketonuria [RCV001199982] |
Chr12:102843721 [GRCh38]
Chr12:103237499 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.871G>T (p.Val291Leu) |
single nucleotide variant |
Phenylketonuria [RCV001199980] |
Chr12:102851728 [GRCh38]
Chr12:103245506 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.*650A>G |
single nucleotide variant |
Phenylketonuria [RCV001109045] |
Chr12:102838525 [GRCh38]
Chr12:103232303 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.755G>C (p.Arg252Pro) |
single nucleotide variant |
Phenylketonuria [RCV001199976] |
Chr12:102852902 [GRCh38]
Chr12:103246680 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.232G>C (p.Glu78Gln) |
single nucleotide variant |
Phenylketonuria [RCV001093502] |
Chr12:102894855 [GRCh38]
Chr12:103288633 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.442G>C (p.Gly148Arg) |
single nucleotide variant |
Phenylketonuria [RCV001093506] |
Chr12:102866663 [GRCh38]
Chr12:103260441 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.674C>T (p.Pro225Leu) |
single nucleotide variant |
Phenylketonuria [RCV001200014] |
Chr12:102855168 [GRCh38]
Chr12:103248946 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1200-1G>C |
single nucleotide variant |
Phenylketonuria [RCV001093524] |
Chr12:102840516 [GRCh38]
Chr12:103234294 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1029T>A (p.Tyr343Ter) |
single nucleotide variant |
Phenylketonuria [RCV001093520] |
Chr12:102844372 [GRCh38]
Chr12:103238150 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.187_190delinsCCCA (p.Thr63_His64delinsProAsn) |
indel |
Phenylketonuria [RCV001247911]|not provided [RCV001559695] |
Chr12:102894897..102894900 [GRCh38]
Chr12:103288675..103288678 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.604G>A (p.Ala202Thr) |
single nucleotide variant |
Phenylketonuria [RCV003316902] |
Chr12:102855238 [GRCh38]
Chr12:103249016 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.229T>C (p.Tyr77His) |
single nucleotide variant |
Phenylketonuria [RCV003316903] |
Chr12:102894858 [GRCh38]
Chr12:103288636 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.510-217C>T |
single nucleotide variant |
not provided [RCV001635752] |
Chr12:102855549 [GRCh38]
Chr12:103249327 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.353-138G>A |
single nucleotide variant |
not provided [RCV001635881] |
Chr12:102877688 [GRCh38]
Chr12:103271466 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.461A>G (p.Tyr154Cys) |
single nucleotide variant |
Phenylketonuria [RCV001543644] |
Chr12:102866644 [GRCh38]
Chr12:103260422 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1066-236C>T |
single nucleotide variant |
not provided [RCV001671575] |
Chr12:102844015 [GRCh38]
Chr12:103237793 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_001354304.2(PAH):c.-95-532G>A |
single nucleotide variant |
not provided [RCV001562251] |
Chr12:102917757 [GRCh38]
Chr12:103311535 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.352+294dup |
duplication |
not provided [RCV001649863] |
Chr12:102894429..102894430 [GRCh38]
Chr12:103288207..103288208 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.1065+156T>G |
single nucleotide variant |
not provided [RCV001676808] |
Chr12:102844180 [GRCh38]
Chr12:103237958 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.1200-251C>T |
single nucleotide variant |
not provided [RCV001541460] |
Chr12:102840766 [GRCh38]
Chr12:103234544 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_004316.4(ASCL1):c.188C>A (p.Ala63Glu) |
single nucleotide variant |
not specified [RCV004315641] |
Chr12:102958432 [GRCh38]
Chr12:103352210 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.438C>T (p.His146=) |
single nucleotide variant |
Phenylketonuria [RCV001272955] |
Chr12:102877465 [GRCh38]
Chr12:103271243 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.442-4C>G |
single nucleotide variant |
Phenylketonuria [RCV000952330] |
Chr12:102866667 [GRCh38]
Chr12:103260445 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1140G>A (p.Thr380=) |
single nucleotide variant |
Phenylketonuria [RCV000908525] |
Chr12:102843705 [GRCh38]
Chr12:103237483 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.1010G>A (p.Gly337Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004029712]|Phenylketonuria [RCV000941282] |
Chr12:102844391 [GRCh38]
Chr12:103238169 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.588C>T (p.Ser196=) |
single nucleotide variant |
Phenylketonuria [RCV000959730] |
Chr12:102855254 [GRCh38]
Chr12:103249032 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.414T>C (p.Tyr138=) |
single nucleotide variant |
not provided [RCV000933420] |
Chr12:102877489 [GRCh38]
Chr12:103271267 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.510-303C>T |
single nucleotide variant |
not provided [RCV001643913] |
Chr12:102855635 [GRCh38]
Chr12:103249413 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.833C>G (p.Thr278Ser) |
single nucleotide variant |
Phenylketonuria [RCV001199979] |
Chr12:102852824 [GRCh38]
Chr12:103246602 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.676C>A (p.Gln226Lys) |
single nucleotide variant |
Phenylketonuria [RCV001199975] |
Chr12:102855166 [GRCh38]
Chr12:103248944 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1187A>G (p.Lys396Arg) |
single nucleotide variant |
Phenylketonuria [RCV001236942] |
Chr12:102843658 [GRCh38]
Chr12:103237436 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.547G>T (p.Glu183Ter) |
single nucleotide variant |
Phenylketonuria [RCV001223829] |
Chr12:102855295 [GRCh38]
Chr12:103249073 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.532G>A (p.Glu178Lys) |
single nucleotide variant |
PAH-related disorder [RCV004740612]|Phenylketonuria [RCV001375893]|not specified [RCV001193452] |
Chr12:102855310 [GRCh38]
Chr12:103249088 [GRCh37]
Chr12:12q23.2 |
pathogenic|uncertain significance |
| NM_000277.3(PAH):c.1174T>A (p.Phe392Ile) |
single nucleotide variant |
PAH-related disorder [RCV004740552]|Phenylketonuria [RCV001058418]|not provided [RCV004773274] |
Chr12:102843671 [GRCh38]
Chr12:103237449 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1238G>A (p.Arg413His) |
single nucleotide variant |
Phenylketonuria [RCV001210291] |
Chr12:102840477 [GRCh38]
Chr12:103234255 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.13del (p.Val5fs) |
deletion |
Phenylketonuria [RCV000993594] |
Chr12:102917118 [GRCh38]
Chr12:103310896 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.59A>C (p.Gln20Pro) |
single nucleotide variant |
Phenylketonuria [RCV000993600] |
Chr12:102917072 [GRCh38]
Chr12:103310850 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.206dup (p.Ser70fs) |
duplication |
Phenylketonuria [RCV000993632] |
Chr12:102894880..102894881 [GRCh38]
Chr12:103288658..103288659 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.842+4A>T |
single nucleotide variant |
Phenylketonuria [RCV000993637] |
Chr12:102852811 [GRCh38]
Chr12:103246589 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.733_735delinsCTA (p.Val245Leu) |
indel |
Phenylketonuria [RCV003230902] |
Chr12:102852922..102852924 [GRCh38]
Chr12:103246700..103246702 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.956A>G (p.Glu319Gly) |
single nucleotide variant |
not provided [RCV000994964] |
Chr12:102846908 [GRCh38]
Chr12:103240686 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.196G>A (p.Glu66Lys) |
single nucleotide variant |
Phenylketonuria [RCV002260502] |
Chr12:102894891 [GRCh38]
Chr12:103288669 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.353-2059_353-1160del |
deletion |
Phenylketonuria [RCV002260491] |
Chr12:102878710..102879609 [GRCh38]
Chr12:103272488..103273387 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.667A>T (p.Asn223Tyr) |
single nucleotide variant |
Phenylketonuria [RCV002260492] |
Chr12:102855175 [GRCh38]
Chr12:103248953 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.935del (p.Gly312fs) |
deletion |
Phenylketonuria [RCV002260493] |
Chr12:102846929 [GRCh38]
Chr12:103240707 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.920G>A (p.Gly307Asp) |
single nucleotide variant |
Phenylketonuria [RCV002260494] |
Chr12:102846944 [GRCh38]
Chr12:103240722 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.197_204del (p.Glu66fs) |
deletion |
Phenylketonuria [RCV002260503] |
Chr12:102894883..102894890 [GRCh38]
Chr12:103288661..103288668 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.594T>G (p.Tyr198Ter) |
single nucleotide variant |
Phenylketonuria [RCV003479532] |
Chr12:102855248 [GRCh38]
Chr12:103249026 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1232C>G (p.Ser411Ter) |
single nucleotide variant |
Phenylketonuria [RCV003479536] |
Chr12:102840483 [GRCh38]
Chr12:103234261 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.47_48dup (p.Asp17fs) |
microsatellite |
Phenylketonuria [RCV003479538] |
Chr12:102917082..102917083 [GRCh38]
Chr12:103310860..103310861 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.478C>T (p.Gln160Ter) |
single nucleotide variant |
Phenylketonuria [RCV003479539] |
Chr12:102866627 [GRCh38]
Chr12:103260405 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.800dup (p.Tyr268fs) |
duplication |
Phenylketonuria [RCV004818894] |
Chr12:102852856..102852857 [GRCh38]
Chr12:103246634..103246635 [GRCh37] |
likely pathogenic |
| NM_000277.3(PAH):c.910C>A (p.Gln304Lys) |
single nucleotide variant |
Phenylketonuria [RCV001543641] |
Chr12:102851689 [GRCh38]
Chr12:103245467 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1199+50G>A |
single nucleotide variant |
Phenylketonuria [RCV001543656] |
Chr12:102843596 [GRCh38]
Chr12:103237374 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1315+163del |
deletion |
not provided [RCV001649928] |
Chr12:102840237 [GRCh38]
Chr12:103234015 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.1315+69G>A |
single nucleotide variant |
not provided [RCV001654636] |
Chr12:102840331 [GRCh38]
Chr12:103234109 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.61-345T>C |
single nucleotide variant |
not provided [RCV001655416] |
Chr12:102913243 [GRCh38]
Chr12:103307021 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.1200-186T>C |
single nucleotide variant |
not provided [RCV001608608] |
Chr12:102840701 [GRCh38]
Chr12:103234479 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.60+62C>G |
single nucleotide variant |
not provided [RCV001660905] |
Chr12:102917009 [GRCh38]
Chr12:103310787 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.970-195G>A |
single nucleotide variant |
not provided [RCV001687896] |
Chr12:102844626 [GRCh38]
Chr12:103238404 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.842+201G>T |
single nucleotide variant |
not provided [RCV001639363] |
Chr12:102852614 [GRCh38]
Chr12:103246392 [GRCh37]
Chr12:12q23.2 |
benign |
| NC_000012.12:g.102957497del |
deletion |
not provided [RCV001715198] |
Chr12:102957491 [GRCh38]
Chr12:103351269 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.353-172G>A |
single nucleotide variant |
not provided [RCV001620050] |
Chr12:102877722 [GRCh38]
Chr12:103271500 [GRCh37]
Chr12:12q23.2 |
benign |
| GRCh37/hg19 12q23.2(chr12:102929882-103248872)x3 |
copy number gain |
not provided [RCV001006528] |
Chr12:102929882..103248872 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.*699C>T |
single nucleotide variant |
Phenylketonuria [RCV001109044] |
Chr12:102838476 [GRCh38]
Chr12:103232254 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.23A>C (p.Asn8Thr) |
single nucleotide variant |
Phenylketonuria [RCV001109152] |
Chr12:102917108 [GRCh38]
Chr12:103310886 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.233A>T (p.Glu78Val) |
single nucleotide variant |
Phenylketonuria [RCV001093503] |
Chr12:102894854 [GRCh38]
Chr12:103288632 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1146C>G (p.Phe382Leu) |
single nucleotide variant |
Phenylketonuria [RCV001093510] |
Chr12:102843699 [GRCh38]
Chr12:103237477 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1315+5G>C |
single nucleotide variant |
Phenylketonuria [RCV001093512] |
Chr12:102840395 [GRCh38]
Chr12:103234173 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.185T>C (p.Leu62Pro) |
single nucleotide variant |
Phenylketonuria [RCV001093519] |
Chr12:102894902 [GRCh38]
Chr12:103288680 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1066-1G>T |
single nucleotide variant |
Phenylketonuria [RCV001093523] |
Chr12:102843780 [GRCh38]
Chr12:103237558 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1066-12del |
deletion |
Phenylketonuria [RCV001093526] |
Chr12:102843791 [GRCh38]
Chr12:103237569 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.786C>T (p.Val262=) |
single nucleotide variant |
Phenylketonuria [RCV001113392] |
Chr12:102852871 [GRCh38]
Chr12:103246649 [GRCh37]
Chr12:12q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000277.3(PAH):c.*272C>T |
single nucleotide variant |
Phenylketonuria [RCV001109046] |
Chr12:102838903 [GRCh38]
Chr12:103232681 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.44T>A (p.Leu15His) |
single nucleotide variant |
Phenylketonuria [RCV001109151] |
Chr12:102917087 [GRCh38]
Chr12:103310865 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.-104C>T |
single nucleotide variant |
Phenylketonuria [RCV001109153] |
Chr12:102917234 [GRCh38]
Chr12:103311012 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.361T>G (p.Phe121Val) |
single nucleotide variant |
Phenylketonuria [RCV001093504] |
Chr12:102877542 [GRCh38]
Chr12:103271320 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.380A>G (p.Glu127Gly) |
single nucleotide variant |
Phenylketonuria [RCV001093505] |
Chr12:102877523 [GRCh38]
Chr12:103271301 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1066-1G>C |
single nucleotide variant |
Phenylketonuria [RCV001093522] |
Chr12:102843780 [GRCh38]
Chr12:103237558 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.146C>A (p.Ala49Asp) |
single nucleotide variant |
not provided [RCV001093427] |
Chr12:102912813 [GRCh38]
Chr12:103306591 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.442-167A>G |
single nucleotide variant |
not provided [RCV001684135] |
Chr12:102866830 [GRCh38]
Chr12:103260608 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.1065+205A>T |
single nucleotide variant |
not provided [RCV001710248] |
Chr12:102844131 [GRCh38]
Chr12:103237909 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.912+229C>G |
single nucleotide variant |
not provided [RCV001691055] |
Chr12:102851458 [GRCh38]
Chr12:103245236 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.843-268T>C |
single nucleotide variant |
not provided [RCV001680775] |
Chr12:102852024 [GRCh38]
Chr12:103245802 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.60+134A>G |
single nucleotide variant |
Phenylketonuria [RCV001533427]|not provided [RCV001647372] |
Chr12:102916937 [GRCh38]
Chr12:103310715 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.442-193A>G |
single nucleotide variant |
not provided [RCV001644458] |
Chr12:102866856 [GRCh38]
Chr12:103260634 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.1065+155T>C |
single nucleotide variant |
not provided [RCV001641569] |
Chr12:102844181 [GRCh38]
Chr12:103237959 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.969+221T>G |
single nucleotide variant |
not provided [RCV001709938] |
Chr12:102846674 [GRCh38]
Chr12:103240452 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.2(PAH):c.-316T>C |
single nucleotide variant |
not provided [RCV001615647] |
Chr12:102917446 [GRCh38]
Chr12:103311224 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_001354304.2(PAH):c.-95-669G>C |
single nucleotide variant |
not provided [RCV001649584] |
Chr12:102917894 [GRCh38]
Chr12:103311672 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.1103A>G (p.Glu368Gly) |
single nucleotide variant |
Phenylketonuria [RCV001543655] |
Chr12:102843742 [GRCh38]
Chr12:103237520 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.516G>C (p.Gln172His) |
single nucleotide variant |
Phenylketonuria [RCV001048823]|RASopathy [RCV004545029] |
Chr12:102855326 [GRCh38]
Chr12:103249104 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1316-2A>C |
single nucleotide variant |
Phenylketonuria [RCV001199996] |
Chr12:102839220 [GRCh38]
Chr12:103232998 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.896T>C (p.Phe299Ser) |
single nucleotide variant |
Phenylketonuria [RCV001199998] |
Chr12:102851703 [GRCh38]
Chr12:103245481 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1259G>T (p.Arg420Met) |
single nucleotide variant |
Phenylketonuria [RCV001200002]|not provided [RCV004720084] |
Chr12:102840456 [GRCh38]
Chr12:103234234 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.970-2A>G |
single nucleotide variant |
Phenylketonuria [RCV001200008] |
Chr12:102844433 [GRCh38]
Chr12:103238211 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1306del (p.Ser436fs) |
deletion |
Phenylketonuria [RCV001200009] |
Chr12:102840409 [GRCh38]
Chr12:103234187 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1129T>G (p.Tyr377Asp) |
single nucleotide variant |
Phenylketonuria [RCV001200015] |
Chr12:102843716 [GRCh38]
Chr12:103237494 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1228T>A (p.Phe410Ile) |
single nucleotide variant |
Phenylketonuria [RCV001200016] |
Chr12:102840487 [GRCh38]
Chr12:103234265 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.60+5G>C |
single nucleotide variant |
Phenylketonuria [RCV001200018] |
Chr12:102917066 [GRCh38]
Chr12:103310844 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1027T>A (p.Tyr343Asn) |
single nucleotide variant |
Phenylketonuria [RCV001199981] |
Chr12:102844374 [GRCh38]
Chr12:103238152 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.913-2A>G |
single nucleotide variant |
Phenylketonuria [RCV001044810] |
Chr12:102846953 [GRCh38]
Chr12:103240731 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1161C>G (p.Tyr387Ter) |
single nucleotide variant |
Phenylketonuria [RCV001215227] |
Chr12:102843684 [GRCh38]
Chr12:103237462 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1253C>T (p.Thr418Ile) |
single nucleotide variant |
Phenylketonuria [RCV001207037] |
Chr12:102840462 [GRCh38]
Chr12:103234240 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.1312A>G (p.Asn438Asp) |
single nucleotide variant |
Phenylketonuria [RCV001200005] |
Chr12:102840403 [GRCh38]
Chr12:103234181 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.505C>A (p.Arg169Ser) |
single nucleotide variant |
Phenylketonuria [RCV001199992] |
Chr12:102866600 [GRCh38]
Chr12:103260378 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.133G>T (p.Val45Phe) |
single nucleotide variant |
Phenylketonuria [RCV001247948] |
Chr12:102912826 [GRCh38]
Chr12:103306604 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1161C>A (p.Tyr387Ter) |
single nucleotide variant |
Phenylketonuria [RCV001194128] |
Chr12:102843684 [GRCh38]
Chr12:103237462 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.365del (p.Pro122fs) |
deletion |
Phenylketonuria [RCV001245954] |
Chr12:102877538 [GRCh38]
Chr12:103271316 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1339G>A (p.Ala447Thr) |
single nucleotide variant |
Phenylketonuria [RCV001062679] |
Chr12:102839195 [GRCh38]
Chr12:103232973 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.443G>A (p.Gly148Asp) |
single nucleotide variant |
Phenylketonuria [RCV001093513] |
Chr12:102866662 [GRCh38]
Chr12:103260440 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.353-2A>G |
single nucleotide variant |
Phenylketonuria [RCV001093521] |
Chr12:102877552 [GRCh38]
Chr12:103271330 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.61-3T>C |
single nucleotide variant |
Phenylketonuria [RCV001093525] |
Chr12:102912901 [GRCh38]
Chr12:103306679 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1066T>G (p.Tyr356Asp) |
single nucleotide variant |
Phenylketonuria [RCV001093527] |
Chr12:102843779 [GRCh38]
Chr12:103237557 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.821A>G (p.Lys274Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003382491]|Intellectual disability [RCV001252100] |
Chr12:102852836 [GRCh38]
Chr12:103246614 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.166del (p.Glu56fs) |
deletion |
Intellectual disability [RCV001252102] |
Chr12:102912793 [GRCh38]
Chr12:103306571 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_004316.4(ASCL1):c.51G>T (p.Gln17His) |
single nucleotide variant |
not specified [RCV004667207] |
Chr12:102958295 [GRCh38]
Chr12:103352073 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.843-5T>C |
single nucleotide variant |
Phenylketonuria [RCV001264614] |
Chr12:102851761 [GRCh38]
Chr12:103245539 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1205T>G (p.Phe402Cys) |
single nucleotide variant |
Phenylketonuria [RCV001269045] |
Chr12:102840510 [GRCh38]
Chr12:103234288 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.551del (p.Lys184fs) |
deletion |
Phenylketonuria [RCV001269051] |
Chr12:102855291 [GRCh38]
Chr12:103249069 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.912+1G>C |
single nucleotide variant |
Phenylketonuria [RCV001269061] |
Chr12:102851686 [GRCh38]
Chr12:103245464 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.209C>T (p.Ser70Phe) |
single nucleotide variant |
Phenylketonuria [RCV001269066] |
Chr12:102894878 [GRCh38]
Chr12:103288656 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1200-3T>G |
single nucleotide variant |
Phenylketonuria [RCV001269067] |
Chr12:102840518 [GRCh38]
Chr12:103234296 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.804C>A (p.Tyr268Ter) |
single nucleotide variant |
Phenylketonuria [RCV001269081] |
Chr12:102852853 [GRCh38]
Chr12:103246631 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.462C>A (p.Tyr154Ter) |
single nucleotide variant |
Phenylketonuria [RCV001269276] |
Chr12:102866643 [GRCh38]
Chr12:103260421 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1200G>T (p.Arg400Ser) |
single nucleotide variant |
Phenylketonuria [RCV001269313] |
Chr12:102840515 [GRCh38]
Chr12:103234293 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1237C>G (p.Arg413Gly) |
single nucleotide variant |
Phenylketonuria [RCV001269319] |
Chr12:102840478 [GRCh38]
Chr12:103234256 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1120A>G (p.Ile374Val) |
single nucleotide variant |
Phenylketonuria [RCV001279859] |
Chr12:102843725 [GRCh38]
Chr12:103237503 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.420G>A (p.Ala140=) |
single nucleotide variant |
Inborn genetic diseases [RCV003294179]|Phenylketonuria [RCV001279866] |
Chr12:102877483 [GRCh38]
Chr12:103271261 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.54T>C (p.Phe18=) |
single nucleotide variant |
Phenylketonuria [RCV001279870] |
Chr12:102917077 [GRCh38]
Chr12:103310855 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.947A>T (p.Glu316Val) |
single nucleotide variant |
Phenylketonuria [RCV001348880] |
Chr12:102846917 [GRCh38]
Chr12:103240695 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1065+241C>A |
single nucleotide variant |
Phenylketonuria [RCV001449884] |
Chr12:102844095 [GRCh38]
Chr12:103237873 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.706+8C>T |
single nucleotide variant |
Phenylketonuria [RCV001396916] |
Chr12:102855128 [GRCh38]
Chr12:103248906 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1332T>G (p.Leu444=) |
single nucleotide variant |
Phenylketonuria [RCV001433364] |
Chr12:102839202 [GRCh38]
Chr12:103232980 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.495C>T (p.Ala165=) |
single nucleotide variant |
Phenylketonuria [RCV001392825] |
Chr12:102866610 [GRCh38]
Chr12:103260388 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.353-8T>C |
single nucleotide variant |
Phenylketonuria [RCV001422238] |
Chr12:102877558 [GRCh38]
Chr12:103271336 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1199+502A>T |
single nucleotide variant |
Phenylketonuria [RCV001449883] |
Chr12:102843144 [GRCh38]
Chr12:103236922 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.563G>T (p.Gly188Val) |
single nucleotide variant |
Phenylketonuria [RCV001375884] |
Chr12:102855279 [GRCh38]
Chr12:103249057 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.753del (p.Arg252fs) |
deletion |
Phenylketonuria [RCV001375906] |
Chr12:102852904 [GRCh38]
Chr12:103246682 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.706+368T>C |
single nucleotide variant |
Phenylketonuria [RCV001449885] |
Chr12:102854768 [GRCh38]
Chr12:103248546 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.510-1G>A |
single nucleotide variant |
Phenylketonuria [RCV001269058] |
Chr12:102855333 [GRCh38]
Chr12:103249111 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.912+16T>A |
single nucleotide variant |
Phenylketonuria [RCV001269071] |
Chr12:102851671 [GRCh38]
Chr12:103245449 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.169-1G>A |
single nucleotide variant |
Phenylketonuria [RCV001269074] |
Chr12:102894919 [GRCh38]
Chr12:103288697 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.970A>G (p.Ile324Val) |
single nucleotide variant |
Phenylketonuria [RCV001269315]|not specified [RCV004690041] |
Chr12:102844431 [GRCh38]
Chr12:103238209 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.441+5G>A |
single nucleotide variant |
Phenylketonuria [RCV001269316] |
Chr12:102877457 [GRCh38]
Chr12:103271235 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.949T>C (p.Tyr317His) |
single nucleotide variant |
Phenylketonuria [RCV001269317] |
Chr12:102846915 [GRCh38]
Chr12:103240693 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.200C>G (p.Ser67Cys) |
single nucleotide variant |
Phenylketonuria [RCV001365715] |
Chr12:102894887 [GRCh38]
Chr12:103288665 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.499A>T (p.Asn167Tyr) |
single nucleotide variant |
Phenylketonuria [RCV001375887] |
Chr12:102866606 [GRCh38]
Chr12:103260384 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1071C>A (p.Cys357Ter) |
single nucleotide variant |
Phenylketonuria [RCV001375888] |
Chr12:102843774 [GRCh38]
Chr12:103237552 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1334G>T (p.Cys445Phe) |
single nucleotide variant |
Phenylketonuria [RCV001279858] |
Chr12:102839200 [GRCh38]
Chr12:103232978 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.222A>G (p.Lys74=) |
single nucleotide variant |
Phenylketonuria [RCV001279867] |
Chr12:102894865 [GRCh38]
Chr12:103288643 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.1200-8G>C |
single nucleotide variant |
Phenylketonuria [RCV001395799] |
Chr12:102840523 [GRCh38]
Chr12:103234301 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.825C>T (p.Pro275=) |
single nucleotide variant |
Phenylketonuria [RCV001396847] |
Chr12:102852832 [GRCh38]
Chr12:103246610 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1066-5T>C |
single nucleotide variant |
Phenylketonuria [RCV001433955] |
Chr12:102843784 [GRCh38]
Chr12:103237562 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.165T>C (p.Phe55=) |
single nucleotide variant |
Phenylketonuria [RCV001392473] |
Chr12:102912794 [GRCh38]
Chr12:103306572 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.921C>T (p.Gly307=) |
single nucleotide variant |
Phenylketonuria [RCV001415115] |
Chr12:102846943 [GRCh38]
Chr12:103240721 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.442-1G>C |
single nucleotide variant |
Phenylketonuria [RCV001375890] |
Chr12:102866664 [GRCh38]
Chr12:103260442 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.843-1G>A |
single nucleotide variant |
Phenylketonuria [RCV001375891] |
Chr12:102851757 [GRCh38]
Chr12:103245535 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.843-6T>C |
single nucleotide variant |
Phenylketonuria [RCV001375894] |
Chr12:102851762 [GRCh38]
Chr12:103245540 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.684A>C (p.Glu228Asp) |
single nucleotide variant |
Phenylketonuria [RCV001375898] |
Chr12:102855158 [GRCh38]
Chr12:103248936 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.510-5T>A |
single nucleotide variant |
Phenylketonuria [RCV001318515] |
Chr12:102855337 [GRCh38]
Chr12:103249115 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.607dup (p.Cys203fs) |
duplication |
Phenylketonuria [RCV001269076] |
Chr12:102855234..102855235 [GRCh38]
Chr12:103249012..103249013 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1246C>A (p.Pro416Thr) |
single nucleotide variant |
Phenylketonuria [RCV001269322] |
Chr12:102840469 [GRCh38]
Chr12:103234247 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3:c.967_969delACA |
deletion |
Phenylketonuria [RCV001276650] |
|
pathogenic |
| NM_000277.3(PAH):c.912+1G>T |
single nucleotide variant |
Phenylketonuria [RCV001269059] |
Chr12:102851686 [GRCh38]
Chr12:103245464 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.540GGA[1] (p.Glu183del) |
microsatellite |
Phenylketonuria [RCV001269060] |
Chr12:102855297..102855299 [GRCh38]
Chr12:103249075..103249077 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1199+4A>G |
single nucleotide variant |
Phenylketonuria [RCV001269070] |
Chr12:102843642 [GRCh38]
Chr12:103237420 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.442-14C>T |
single nucleotide variant |
Phenylketonuria [RCV001269072] |
Chr12:102866677 [GRCh38]
Chr12:103260455 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.463del (p.Arg155fs) |
deletion |
Phenylketonuria [RCV001269080] |
Chr12:102866642 [GRCh38]
Chr12:103260420 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.364C>T (p.Pro122Ser) |
single nucleotide variant |
Phenylketonuria [RCV001269311] |
Chr12:102877539 [GRCh38]
Chr12:103271317 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.584dup (p.Ser196fs) |
duplication |
Phenylketonuria [RCV001269337] |
Chr12:102855257..102855258 [GRCh38]
Chr12:103249035..103249036 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.970-10T>C |
single nucleotide variant |
Phenylketonuria [RCV001279862] |
Chr12:102844441 [GRCh38]
Chr12:103238219 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.60+9C>T |
single nucleotide variant |
Phenylketonuria [RCV001279869] |
Chr12:102917062 [GRCh38]
Chr12:103310840 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.1066-7C>T |
single nucleotide variant |
Phenylketonuria [RCV001279860] |
Chr12:102843786 [GRCh38]
Chr12:103237564 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.509+21G>T |
single nucleotide variant |
Phenylketonuria [RCV001279865] |
Chr12:102866575 [GRCh38]
Chr12:103260353 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.105A>G (p.Ile35Met) |
single nucleotide variant |
Phenylketonuria [RCV001279868] |
Chr12:102912854 [GRCh38]
Chr12:103306632 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.843-16G>A |
single nucleotide variant |
not provided [RCV001311005] |
Chr12:102851772 [GRCh38]
Chr12:103245550 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.169-4949_352+1467delinsGGCACCTG |
indel |
Phenylketonuria [RCV000000615]|not provided [RCV000088856] |
Chr12:102893268..102899867 [GRCh38]
Chr12:103287046..103293645 [GRCh37]
Chr12:12q23.2 |
pathogenic|affects|not provided |
| NM_000277.3(PAH):c.1166C>G (p.Ala389Gly) |
single nucleotide variant |
Phenylketonuria [RCV001269041] |
Chr12:102843679 [GRCh38]
Chr12:103237457 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.441+2T>G |
single nucleotide variant |
Phenylketonuria [RCV001269075] |
Chr12:102877460 [GRCh38]
Chr12:103271238 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.682G>T (p.Glu228Ter) |
single nucleotide variant |
Phenylketonuria [RCV001269044] |
Chr12:102855160 [GRCh38]
Chr12:103248938 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1204T>G (p.Phe402Val) |
single nucleotide variant |
Phenylketonuria [RCV001269046] |
Chr12:102840511 [GRCh38]
Chr12:103234289 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1271T>A (p.Leu424Ter) |
single nucleotide variant |
Phenylketonuria [RCV001269048] |
Chr12:102840444 [GRCh38]
Chr12:103234222 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1066-13T>G |
single nucleotide variant |
Phenylketonuria [RCV001269050] |
Chr12:102843792 [GRCh38]
Chr12:103237570 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.285C>T (p.Ile95=) |
single nucleotide variant |
Phenylketonuria [RCV001269064] |
Chr12:102894802 [GRCh38]
Chr12:103288580 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.707-1G>C |
single nucleotide variant |
Phenylketonuria [RCV001269073] |
Chr12:102852951 [GRCh38]
Chr12:103246729 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.870T>C (p.His290=) |
single nucleotide variant |
Phenylketonuria [RCV001279863] |
Chr12:102851729 [GRCh38]
Chr12:103245507 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.667_674dup (p.Gln226fs) |
duplication |
Phenylketonuria [RCV001375885] |
Chr12:102855167..102855168 [GRCh38]
Chr12:103248945..103248946 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.847A>G (p.Ile283Val) |
single nucleotide variant |
Phenylketonuria [RCV001375899] |
Chr12:102851752 [GRCh38]
Chr12:103245530 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1200-4T>A |
single nucleotide variant |
Phenylketonuria [RCV001396463] |
Chr12:102840519 [GRCh38]
Chr12:103234297 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.740del (p.Gly247fs) |
deletion |
Phenylketonuria [RCV001375886] |
Chr12:102852917 [GRCh38]
Chr12:103246695 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.969+4A>T |
single nucleotide variant |
Phenylketonuria [RCV001375896] |
Chr12:102846891 [GRCh38]
Chr12:103240669 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.442-1377_509+226del |
deletion |
Phenylketonuria [RCV001375902] |
Chr12:102866370..102868040 [GRCh38]
Chr12:103260148..103261818 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.442-4403_509+883del |
deletion |
Phenylketonuria [RCV001375903] |
Chr12:102865713..102871066 [GRCh38]
Chr12:103259491..103264844 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.920del (p.Gly307fs) |
deletion |
Phenylketonuria [RCV001375905] |
Chr12:102846944 [GRCh38]
Chr12:103240722 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1098C>A (p.Pro366=) |
single nucleotide variant |
Phenylketonuria [RCV001494466] |
Chr12:102843747 [GRCh38]
Chr12:103237525 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1200-9T>C |
single nucleotide variant |
Phenylketonuria [RCV001412888] |
Chr12:102840524 [GRCh38]
Chr12:103234302 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.679C>G (p.Leu227Val) |
single nucleotide variant |
Phenylketonuria [RCV001375897] |
Chr12:102855163 [GRCh38]
Chr12:103248941 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.510-735_912+434del |
deletion |
Phenylketonuria [RCV001375904] |
Chr12:102851253..102856067 [GRCh38]
Chr12:103245031..103249845 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.153A>T (p.Val51=) |
single nucleotide variant |
Phenylketonuria [RCV001412865] |
Chr12:102912806 [GRCh38]
Chr12:103306584 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1188G>A (p.Lys396=) |
single nucleotide variant |
Phenylketonuria [RCV001421300] |
Chr12:102843657 [GRCh38]
Chr12:103237435 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1095C>T (p.Leu365=) |
single nucleotide variant |
Phenylketonuria [RCV001414103] |
Chr12:102843750 [GRCh38]
Chr12:103237528 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.147C>G (p.Ala49=) |
single nucleotide variant |
Phenylketonuria [RCV001482139] |
Chr12:102912812 [GRCh38]
Chr12:103306590 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.771C>T (p.Gly257=) |
single nucleotide variant |
Phenylketonuria [RCV001450848] |
Chr12:102852886 [GRCh38]
Chr12:103246664 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.169-9C>G |
single nucleotide variant |
Phenylketonuria [RCV001404727] |
Chr12:102894927 [GRCh38]
Chr12:103288705 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1089G>A (p.Lys363=) |
single nucleotide variant |
Phenylketonuria [RCV001458535] |
Chr12:102843756 [GRCh38]
Chr12:103237534 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1026A>G (p.Ala342=) |
single nucleotide variant |
Phenylketonuria [RCV001473520] |
Chr12:102844375 [GRCh38]
Chr12:103238153 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.999C>T (p.Leu333=) |
single nucleotide variant |
Phenylketonuria [RCV001482971] |
Chr12:102844402 [GRCh38]
Chr12:103238180 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1096C>T (p.Pro366Ser) |
single nucleotide variant |
Phenylketonuria [RCV001378239] |
Chr12:102843749 [GRCh38]
Chr12:103237527 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.72T>C (p.Tyr24=) |
single nucleotide variant |
Phenylketonuria [RCV001482130] |
Chr12:102912887 [GRCh38]
Chr12:103306665 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.60+10G>A |
single nucleotide variant |
Phenylketonuria [RCV001470781] |
Chr12:102917061 [GRCh38]
Chr12:103310839 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NC_000012.11:g.(?_103248268)_103249067del |
deletion |
Phenylketonuria [RCV001385450] |
|
pathogenic |
| NM_000277.3(PAH):c.353-7G>T |
single nucleotide variant |
Phenylketonuria [RCV001418002] |
Chr12:102877557 [GRCh38]
Chr12:103271335 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.375T>C (p.Ile125=) |
single nucleotide variant |
Phenylketonuria [RCV001475541] |
Chr12:102877528 [GRCh38]
Chr12:103271306 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.651T>C (p.Cys217=) |
single nucleotide variant |
Phenylketonuria [RCV001439270] |
Chr12:102855191 [GRCh38]
Chr12:103248969 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.159C>T (p.Arg53=) |
single nucleotide variant |
Phenylketonuria [RCV001471692] |
Chr12:102912800 [GRCh38]
Chr12:103306578 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1134T>G (p.Thr378=) |
single nucleotide variant |
Phenylketonuria [RCV001475668] |
Chr12:102843711 [GRCh38]
Chr12:103237489 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1254C>T (p.Thr418=) |
single nucleotide variant |
Phenylketonuria [RCV001469449] |
Chr12:102840461 [GRCh38]
Chr12:103234239 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1092T>G (p.Leu364=) |
single nucleotide variant |
Phenylketonuria [RCV001436958] |
Chr12:102843753 [GRCh38]
Chr12:103237531 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.774G>T (p.Leu258=) |
single nucleotide variant |
Phenylketonuria [RCV001418243] |
Chr12:102852883 [GRCh38]
Chr12:103246661 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.774G>A (p.Leu258=) |
single nucleotide variant |
Phenylketonuria [RCV001429000] |
Chr12:102852883 [GRCh38]
Chr12:103246661 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1254C>A (p.Thr418=) |
single nucleotide variant |
Phenylketonuria [RCV001500882] |
Chr12:102840461 [GRCh38]
Chr12:103234239 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1341C>A (p.Ala447=) |
single nucleotide variant |
Phenylketonuria [RCV001493219] |
Chr12:102839193 [GRCh38]
Chr12:103232971 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1200-8G>T |
single nucleotide variant |
Phenylketonuria [RCV001415975] |
Chr12:102840523 [GRCh38]
Chr12:103234301 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.574_580del (p.Phe191_Lys192insTer) |
deletion |
Phenylketonuria [RCV001388660] |
Chr12:102855262..102855268 [GRCh38]
Chr12:103249040..103249046 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.261C>T (p.Ser87=) |
single nucleotide variant |
Phenylketonuria [RCV001442858] |
Chr12:102894826 [GRCh38]
Chr12:103288604 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1065+20C>G |
single nucleotide variant |
Phenylketonuria [RCV001484755] |
Chr12:102844316 [GRCh38]
Chr12:103238094 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1065+8C>T |
single nucleotide variant |
Phenylketonuria [RCV001488162] |
Chr12:102844328 [GRCh38]
Chr12:103238106 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1143G>A (p.Glu381=) |
single nucleotide variant |
Phenylketonuria [RCV001393743] |
Chr12:102843702 [GRCh38]
Chr12:103237480 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.474G>A (p.Arg158=) |
single nucleotide variant |
Phenylketonuria [RCV001474901] |
Chr12:102866631 [GRCh38]
Chr12:103260409 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.135T>C (p.Val45=) |
single nucleotide variant |
Phenylketonuria [RCV001471665] |
Chr12:102912824 [GRCh38]
Chr12:103306602 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1134T>C (p.Thr378=) |
single nucleotide variant |
Phenylketonuria [RCV001416500] |
Chr12:102843711 [GRCh38]
Chr12:103237489 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1071C>T (p.Cys357=) |
single nucleotide variant |
Phenylketonuria [RCV001429891] |
Chr12:102843774 [GRCh38]
Chr12:103237552 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.669C>T (p.Asn223=) |
single nucleotide variant |
Phenylketonuria [RCV001438376] |
Chr12:102855173 [GRCh38]
Chr12:103248951 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.861G>A (p.Leu287=) |
single nucleotide variant |
Phenylketonuria [RCV001448459] |
Chr12:102851738 [GRCh38]
Chr12:103245516 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.169-10T>C |
single nucleotide variant |
Phenylketonuria [RCV001440954] |
Chr12:102894928 [GRCh38]
Chr12:103288706 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.795C>T (p.Cys265=) |
single nucleotide variant |
Phenylketonuria [RCV001412050] |
Chr12:102852862 [GRCh38]
Chr12:103246640 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1041C>T (p.Leu347=) |
single nucleotide variant |
Phenylketonuria [RCV001444166] |
Chr12:102844360 [GRCh38]
Chr12:103238138 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1029T>G (p.Tyr343Ter) |
single nucleotide variant |
Phenylketonuria [RCV001387432] |
Chr12:102844372 [GRCh38]
Chr12:103238150 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1315+9T>C |
single nucleotide variant |
Phenylketonuria [RCV001430769] |
Chr12:102840391 [GRCh38]
Chr12:103234169 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.231T>C (p.Tyr77=) |
single nucleotide variant |
Phenylketonuria [RCV001446725] |
Chr12:102894856 [GRCh38]
Chr12:103288634 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1248A>C (p.Pro416=) |
single nucleotide variant |
Phenylketonuria [RCV001405229] |
Chr12:102840467 [GRCh38]
Chr12:103234245 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.447T>C (p.Phe149=) |
single nucleotide variant |
Phenylketonuria [RCV001405750] |
Chr12:102866658 [GRCh38]
Chr12:103260436 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.353-9G>T |
single nucleotide variant |
Phenylketonuria [RCV001444643] |
Chr12:102877559 [GRCh38]
Chr12:103271337 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.842+8C>T |
single nucleotide variant |
Phenylketonuria [RCV001425355] |
Chr12:102852807 [GRCh38]
Chr12:103246585 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.169-10T>G |
single nucleotide variant |
Phenylketonuria [RCV001427053] |
Chr12:102894928 [GRCh38]
Chr12:103288706 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.654C>T (p.Gly218=) |
single nucleotide variant |
Phenylketonuria [RCV001405758] |
Chr12:102855188 [GRCh38]
Chr12:103248966 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NC_000012.11:g.(?_103248268)_(103249067_?)del |
deletion |
Phenylketonuria [RCV001387701] |
Chr12:103248268..103249067 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.936T>C (p.Gly312=) |
single nucleotide variant |
Phenylketonuria [RCV001440540] |
Chr12:102846928 [GRCh38]
Chr12:103240706 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.509+9G>A |
single nucleotide variant |
Phenylketonuria [RCV001419480] |
Chr12:102866587 [GRCh38]
Chr12:103260365 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.633A>C (p.Pro211=) |
single nucleotide variant |
Phenylketonuria [RCV001431869] |
Chr12:102855209 [GRCh38]
Chr12:103248987 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1066-4A>G |
single nucleotide variant |
Phenylketonuria [RCV001427461] |
Chr12:102843783 [GRCh38]
Chr12:103237561 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.544G>A (p.Glu182Lys) |
single nucleotide variant |
Phenylketonuria [RCV001389170] |
Chr12:102855298 [GRCh38]
Chr12:103249076 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.169-5T>A |
single nucleotide variant |
Phenylketonuria [RCV001411578] |
Chr12:102894923 [GRCh38]
Chr12:103288701 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1287G>A (p.Gln429=) |
single nucleotide variant |
Phenylketonuria [RCV001394247] |
Chr12:102840428 [GRCh38]
Chr12:103234206 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.61-7C>T |
single nucleotide variant |
Phenylketonuria [RCV001419992] |
Chr12:102912905 [GRCh38]
Chr12:103306683 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.951C>T (p.Tyr317=) |
single nucleotide variant |
Phenylketonuria [RCV001467699] |
Chr12:102846913 [GRCh38]
Chr12:103240691 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.999C>G (p.Leu333=) |
single nucleotide variant |
Phenylketonuria [RCV001468290] |
Chr12:102844402 [GRCh38]
Chr12:103238180 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1329C>A (p.Ile443=) |
single nucleotide variant |
Phenylketonuria [RCV001485730] |
Chr12:102839205 [GRCh38]
Chr12:103232983 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.654C>G (p.Gly218=) |
single nucleotide variant |
Phenylketonuria [RCV001454500] |
Chr12:102855188 [GRCh38]
Chr12:103248966 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.2(PAH):c.-223G>A |
single nucleotide variant |
not provided [RCV001690721] |
Chr12:102917353 [GRCh38]
Chr12:103311131 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.450A>G (p.Lys150=) |
single nucleotide variant |
Phenylketonuria [RCV001458032] |
Chr12:102866655 [GRCh38]
Chr12:103260433 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.804C>T (p.Tyr268=) |
single nucleotide variant |
Inborn genetic diseases [RCV002414134]|Phenylketonuria [RCV001473267] |
Chr12:102852853 [GRCh38]
Chr12:103246631 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.707-8C>T |
single nucleotide variant |
Phenylketonuria [RCV001458454] |
Chr12:102852958 [GRCh38]
Chr12:103246736 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.830_831insC (p.Thr278fs) |
insertion |
Phenylketonuria [RCV001506975] |
Chr12:102852826..102852827 [GRCh38]
Chr12:103246604..103246605 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.510-254C>T |
single nucleotide variant |
not provided [RCV001693826] |
Chr12:102855586 [GRCh38]
Chr12:103249364 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.861G>T (p.Leu287=) |
single nucleotide variant |
Phenylketonuria [RCV001503477] |
Chr12:102851738 [GRCh38]
Chr12:103245516 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.168+267A>T |
single nucleotide variant |
not provided [RCV001591442] |
Chr12:102912524 [GRCh38]
Chr12:103306302 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.706+56G>A |
single nucleotide variant |
not provided [RCV001710015] |
Chr12:102855080 [GRCh38]
Chr12:103248858 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.1251C>T (p.Tyr417=) |
single nucleotide variant |
Phenylketonuria [RCV001504858] |
Chr12:102840464 [GRCh38]
Chr12:103234242 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1066-193G>C |
single nucleotide variant |
not provided [RCV001675126] |
Chr12:102843972 [GRCh38]
Chr12:103237750 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.513G>T (p.Gly171=) |
single nucleotide variant |
Phenylketonuria [RCV001472221] |
Chr12:102855329 [GRCh38]
Chr12:103249107 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1270T>C (p.Leu424=) |
single nucleotide variant |
Phenylketonuria [RCV001464086] |
Chr12:102840445 [GRCh38]
Chr12:103234223 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.342G>A (p.Lys114=) |
single nucleotide variant |
Phenylketonuria [RCV001472618] |
Chr12:102894745 [GRCh38]
Chr12:103288523 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.789C>A (p.Phe263Leu) |
single nucleotide variant |
Phenylketonuria [RCV001377752] |
Chr12:102852868 [GRCh38]
Chr12:103246646 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.135T>G (p.Val45=) |
single nucleotide variant |
Phenylketonuria [RCV001419044] |
Chr12:102912824 [GRCh38]
Chr12:103306602 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.783A>G (p.Arg261=) |
single nucleotide variant |
Phenylketonuria [RCV001439645] |
Chr12:102852874 [GRCh38]
Chr12:103246652 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1185C>A (p.Ala395=) |
single nucleotide variant |
Phenylketonuria [RCV001458293] |
Chr12:102843660 [GRCh38]
Chr12:103237438 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.642A>G (p.Glu214=) |
single nucleotide variant |
Phenylketonuria [RCV001500105] |
Chr12:102855200 [GRCh38]
Chr12:103248978 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.441+9A>G |
single nucleotide variant |
Phenylketonuria [RCV001453497] |
Chr12:102877453 [GRCh38]
Chr12:103271231 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1059A>G (p.Glu353=) |
single nucleotide variant |
Phenylketonuria [RCV001502130] |
Chr12:102844342 [GRCh38]
Chr12:103238120 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.61-9A>T |
single nucleotide variant |
Phenylketonuria [RCV001477903] |
Chr12:102912907 [GRCh38]
Chr12:103306685 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.462C>T (p.Tyr154=) |
single nucleotide variant |
Phenylketonuria [RCV001440427] |
Chr12:102866643 [GRCh38]
Chr12:103260421 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1353A>C (p.Ile451=) |
single nucleotide variant |
Inborn genetic diseases [RCV002384713]|Phenylketonuria [RCV001455842] |
Chr12:102839181 [GRCh38]
Chr12:103232959 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.12G>A (p.Ala4=) |
single nucleotide variant |
Phenylketonuria [RCV001423489] |
Chr12:102917119 [GRCh38]
Chr12:103310897 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.353-4T>G |
single nucleotide variant |
Phenylketonuria [RCV001419926] |
Chr12:102877554 [GRCh38]
Chr12:103271332 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.970-7A>T |
single nucleotide variant |
Phenylketonuria [RCV001478814] |
Chr12:102844438 [GRCh38]
Chr12:103238216 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1155C>A (p.Leu385=) |
single nucleotide variant |
Phenylketonuria [RCV001416277] |
Chr12:102843690 [GRCh38]
Chr12:103237468 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1344C>T (p.Leu448=) |
single nucleotide variant |
Phenylketonuria [RCV001485409] |
Chr12:102839190 [GRCh38]
Chr12:103232968 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.859C>A (p.Leu287Met) |
single nucleotide variant |
Phenylketonuria [RCV001379708] |
Chr12:102851740 [GRCh38]
Chr12:103245518 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1199+264G>A |
single nucleotide variant |
not provided [RCV001536979] |
Chr12:102843382 [GRCh38]
Chr12:103237160 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.687C>T (p.Asp229=) |
single nucleotide variant |
Phenylketonuria [RCV001435956] |
Chr12:102855155 [GRCh38]
Chr12:103248933 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.509+140G>A |
single nucleotide variant |
not provided [RCV001732473] |
Chr12:102866456 [GRCh38]
Chr12:103260234 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1199+9G>C |
single nucleotide variant |
Phenylketonuria [RCV003108590] |
Chr12:102843637 [GRCh38]
Chr12:103237415 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.753_754del (p.Arg252fs) |
microsatellite |
Phenylketonuria [RCV002260489] |
Chr12:102852903..102852904 [GRCh38]
Chr12:103246681..103246682 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1057del (p.Glu353fs) |
deletion |
Phenylketonuria [RCV002260496] |
Chr12:102844344 [GRCh38]
Chr12:103238122 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1244A>T (p.Asp415Val) |
single nucleotide variant |
Phenylketonuria [RCV002260504] |
Chr12:102840471 [GRCh38]
Chr12:103234249 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.696G>C (p.Gln232His) |
single nucleotide variant |
not specified [RCV004800767] |
Chr12:102855146 [GRCh38]
Chr12:103248924 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.169-3T>G |
single nucleotide variant |
not provided [RCV001752474] |
Chr12:102894921 [GRCh38]
Chr12:103288699 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.835_836delinsTG (p.Pro279Cys) |
indel |
Phenylketonuria [RCV002260486] |
Chr12:102852821..102852822 [GRCh38]
Chr12:103246599..103246600 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1194A>C (p.Lys398Asn) |
single nucleotide variant |
Phenylketonuria [RCV002260487] |
Chr12:102843651 [GRCh38]
Chr12:103237429 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.599C>A (p.Thr200Asn) |
single nucleotide variant |
Phenylketonuria [RCV002260488] |
Chr12:102855243 [GRCh38]
Chr12:103249021 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1166C>A (p.Ala389Glu) |
single nucleotide variant |
Phenylketonuria [RCV001789828] |
Chr12:102843679 [GRCh38]
Chr12:103237457 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1301C>T (p.Ala434Val) |
single nucleotide variant |
Phenylketonuria [RCV001789812] |
Chr12:102840414 [GRCh38]
Chr12:103234192 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.983C>A (p.Thr328Asn) |
single nucleotide variant |
Phenylketonuria [RCV001789818] |
Chr12:102844418 [GRCh38]
Chr12:103238196 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.730C>T (p.Pro244Ser) |
single nucleotide variant |
Phenylketonuria [RCV001789819] |
Chr12:102852927 [GRCh38]
Chr12:103246705 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.977G>C (p.Trp326Ser) |
single nucleotide variant |
Phenylketonuria [RCV001789822] |
Chr12:102844424 [GRCh38]
Chr12:103238202 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.914_1199+1del |
deletion |
Phenylketonuria [RCV001789825] |
Chr12:102843645..102846950 [GRCh38]
Chr12:103237423..103240728 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1081A>C (p.Lys361Gln) |
single nucleotide variant |
Phenylketonuria [RCV001789827] |
Chr12:102843764 [GRCh38]
Chr12:103237542 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.925G>A (p.Ala309Thr) |
single nucleotide variant |
Phenylketonuria [RCV001789829] |
Chr12:102846939 [GRCh38]
Chr12:103240717 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.842C>A (p.Pro281His) |
single nucleotide variant |
Phenylketonuria [RCV001814820] |
Chr12:102852815 [GRCh38]
Chr12:103246593 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.1250A>G (p.Tyr417Cys) |
single nucleotide variant |
Phenylketonuria [RCV001789813] |
Chr12:102840465 [GRCh38]
Chr12:103234243 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1249T>G (p.Tyr417Asp) |
single nucleotide variant |
Phenylketonuria [RCV001789814] |
Chr12:102840466 [GRCh38]
Chr12:103234244 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1115C>G (p.Thr372Arg) |
single nucleotide variant |
Phenylketonuria [RCV001789816] |
Chr12:102843730 [GRCh38]
Chr12:103237508 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1066-7C>A |
single nucleotide variant |
Phenylketonuria [RCV001789817] |
Chr12:102843786 [GRCh38]
Chr12:103237564 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.699C>G (p.Phe233Leu) |
single nucleotide variant |
Phenylketonuria [RCV001789820] |
Chr12:102855143 [GRCh38]
Chr12:103248921 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.680T>A (p.Leu227Gln) |
single nucleotide variant |
Phenylketonuria [RCV001789821] |
Chr12:102855162 [GRCh38]
Chr12:103248940 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1076C>T (p.Ser359Leu) |
single nucleotide variant |
Phenylketonuria [RCV001789823] |
Chr12:102843769 [GRCh38]
Chr12:103237547 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1204T>A (p.Phe402Ile) |
single nucleotide variant |
Phenylketonuria [RCV001789824] |
Chr12:102840511 [GRCh38]
Chr12:103234289 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.605C>T (p.Ala202Val) |
single nucleotide variant |
Phenylketonuria [RCV001789810] |
Chr12:102855237 [GRCh38]
Chr12:103249015 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.970-7A>G |
single nucleotide variant |
Phenylketonuria [RCV001789811] |
Chr12:102844438 [GRCh38]
Chr12:103238216 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1159T>G (p.Tyr387Asp) |
single nucleotide variant |
Phenylketonuria [RCV001789815] |
Chr12:102843686 [GRCh38]
Chr12:103237464 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1243G>T (p.Asp415Tyr) |
single nucleotide variant |
Phenylketonuria [RCV001789809] |
Chr12:102840472 [GRCh38]
Chr12:103234250 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1105C>G (p.Leu369Val) |
single nucleotide variant |
Phenylketonuria [RCV001789826] |
Chr12:102843740 [GRCh38]
Chr12:103237518 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.210del (p.Arg71fs) |
deletion |
Phenylketonuria [RCV001806349] |
Chr12:102894877 [GRCh38]
Chr12:103288655 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.925G>T (p.Ala309Ser) |
single nucleotide variant |
Phenylketonuria [RCV001970548] |
Chr12:102846939 [GRCh38]
Chr12:103240717 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.913-9C>T |
single nucleotide variant |
Phenylketonuria [RCV001983238] |
Chr12:102846960 [GRCh38]
Chr12:103240738 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.509A>C (p.His170Pro) |
single nucleotide variant |
Phenylketonuria [RCV001986924]|not specified [RCV003402026] |
Chr12:102866596 [GRCh38]
Chr12:103260374 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.127del (p.Glu43fs) |
deletion |
Phenylketonuria [RCV001895010] |
Chr12:102912832 [GRCh38]
Chr12:103306610 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.435C>A (p.Asp145Glu) |
single nucleotide variant |
Phenylketonuria [RCV002045342] |
Chr12:102877468 [GRCh38]
Chr12:103271246 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1155_1156delinsGC (p.Tyr386His) |
indel |
Phenylketonuria [RCV001964349] |
Chr12:102843689..102843690 [GRCh38]
Chr12:103237467..103237468 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NC_000012.11:g.(?_103246573)_(103271348_?)del |
deletion |
Phenylketonuria [RCV001949223] |
Chr12:103246573..103271348 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.945T>A (p.Asp315Glu) |
single nucleotide variant |
Phenylketonuria [RCV001970975] |
Chr12:102846919 [GRCh38]
Chr12:103240697 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.614A>G (p.Glu205Gly) |
single nucleotide variant |
Phenylketonuria [RCV001986456] |
Chr12:102855228 [GRCh38]
Chr12:103249006 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.467C>G (p.Ala156Gly) |
single nucleotide variant |
Phenylketonuria [RCV002008996] |
Chr12:102866638 [GRCh38]
Chr12:103260416 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1013A>C (p.Asp338Ala) |
single nucleotide variant |
Phenylketonuria [RCV001988402]|not specified [RCV003317565] |
Chr12:102844388 [GRCh38]
Chr12:103238166 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.392T>C (p.Phe131Ser) |
single nucleotide variant |
Phenylketonuria [RCV001964825] |
Chr12:102877511 [GRCh38]
Chr12:103271289 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.510-21_687delinsCCA |
indel |
Phenylketonuria [RCV001912407] |
Chr12:102855155..102855353 [GRCh38]
Chr12:103248933..103249131 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075) |
copy number gain |
not specified [RCV002053014] |
Chr12:100580198..105804075 [GRCh37]
Chr12:12q23.1-23.3 |
uncertain significance |
| GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805) |
copy number loss |
not specified [RCV002053016] |
Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11 |
likely pathogenic |
| NM_000277.3(PAH):c.843-8T>C |
single nucleotide variant |
Phenylketonuria [RCV002042082] |
Chr12:102851764 [GRCh38]
Chr12:103245542 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.886G>A (p.Asp296Asn) |
single nucleotide variant |
Phenylketonuria [RCV001984332] |
Chr12:102851713 [GRCh38]
Chr12:103245491 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.721C>A (p.Arg241Ser) |
single nucleotide variant |
Phenylketonuria [RCV002005780] |
Chr12:102852936 [GRCh38]
Chr12:103246714 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1259G>C (p.Arg420Thr) |
single nucleotide variant |
Phenylketonuria [RCV002024160]|not specified [RCV004801134] |
Chr12:102840456 [GRCh38]
Chr12:103234234 [GRCh37]
Chr12:12q23.2 |
likely pathogenic|uncertain significance |
| NM_000277.3(PAH):c.632C>A (p.Pro211Gln) |
single nucleotide variant |
Phenylketonuria [RCV002022060] |
Chr12:102855210 [GRCh38]
Chr12:103248988 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.320A>C (p.His107Pro) |
single nucleotide variant |
Phenylketonuria [RCV002038848] |
Chr12:102894767 [GRCh38]
Chr12:103288545 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1192A>T (p.Lys398Ter) |
single nucleotide variant |
Phenylketonuria [RCV001888179] |
Chr12:102843653 [GRCh38]
Chr12:103237431 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.308G>A (p.Gly103Asp) |
single nucleotide variant |
Phenylketonuria [RCV001941587] |
Chr12:102894779 [GRCh38]
Chr12:103288557 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.703C>A (p.Gln235Lys) |
single nucleotide variant |
Phenylketonuria [RCV001897774] |
Chr12:102855139 [GRCh38]
Chr12:103248917 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.428A>T (p.Asp143Val) |
single nucleotide variant |
Phenylketonuria [RCV002014138] |
Chr12:102877475 [GRCh38]
Chr12:103271253 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.182A>G (p.Asn61Ser) |
single nucleotide variant |
Phenylketonuria [RCV002029638] |
Chr12:102894905 [GRCh38]
Chr12:103288683 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.511G>C (p.Gly171Arg) |
single nucleotide variant |
Phenylketonuria [RCV001897836] |
Chr12:102855331 [GRCh38]
Chr12:103249109 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.295A>G (p.Arg99Gly) |
single nucleotide variant |
Phenylketonuria [RCV001975307] |
Chr12:102894792 [GRCh38]
Chr12:103288570 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.935G>T (p.Gly312Val) |
single nucleotide variant |
Phenylketonuria [RCV001972839] |
Chr12:102846929 [GRCh38]
Chr12:103240707 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.938C>A (p.Ala313Glu) |
single nucleotide variant |
Phenylketonuria [RCV002014335] |
Chr12:102846926 [GRCh38]
Chr12:103240704 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.212G>C (p.Arg71Pro) |
single nucleotide variant |
Phenylketonuria [RCV001994069] |
Chr12:102894875 [GRCh38]
Chr12:103288653 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.63A>C (p.Glu21Asp) |
single nucleotide variant |
Phenylketonuria [RCV001896984] |
Chr12:102912896 [GRCh38]
Chr12:103306674 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.950A>G (p.Tyr317Cys) |
single nucleotide variant |
Phenylketonuria [RCV001974670] |
Chr12:102846914 [GRCh38]
Chr12:103240692 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.36del (p.Arg13fs) |
deletion |
Phenylketonuria [RCV001920097] |
Chr12:102917095 [GRCh38]
Chr12:103310873 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.169-7C>G |
single nucleotide variant |
Phenylketonuria [RCV001976310] |
Chr12:102894925 [GRCh38]
Chr12:103288703 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.661G>A (p.Glu221Lys) |
single nucleotide variant |
Phenylketonuria [RCV001974909] |
Chr12:102855181 [GRCh38]
Chr12:103248959 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.603T>G (p.His201Gln) |
single nucleotide variant |
Phenylketonuria [RCV001951415] |
Chr12:102855239 [GRCh38]
Chr12:103249017 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.666T>G (p.Asp222Glu) |
single nucleotide variant |
Phenylketonuria [RCV001992017] |
Chr12:102855176 [GRCh38]
Chr12:103248954 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.842C>G (p.Pro281Arg) |
single nucleotide variant |
Phenylketonuria [RCV001972840] |
Chr12:102852815 [GRCh38]
Chr12:103246593 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.234A>T (p.Glu78Asp) |
single nucleotide variant |
Phenylketonuria [RCV001981528] |
Chr12:102894853 [GRCh38]
Chr12:103288631 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1093C>T (p.Leu365Phe) |
single nucleotide variant |
Phenylketonuria [RCV001923642] |
Chr12:102843752 [GRCh38]
Chr12:103237530 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.157C>A (p.Arg53Ser) |
single nucleotide variant |
Phenylketonuria [RCV001990771] |
Chr12:102912802 [GRCh38]
Chr12:103306580 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.557C>T (p.Thr186Ile) |
single nucleotide variant |
Phenylketonuria [RCV002047826] |
Chr12:102855285 [GRCh38]
Chr12:103249063 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.467C>T (p.Ala156Val) |
single nucleotide variant |
Phenylketonuria [RCV001979309] |
Chr12:102866638 [GRCh38]
Chr12:103260416 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.74T>C (p.Ile25Thr) |
single nucleotide variant |
Phenylketonuria [RCV001980503] |
Chr12:102912885 [GRCh38]
Chr12:103306663 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.168+2T>A |
single nucleotide variant |
Phenylketonuria [RCV001939690] |
Chr12:102912789 [GRCh38]
Chr12:103306567 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.562G>A (p.Gly188Ser) |
single nucleotide variant |
Phenylketonuria [RCV002018434] |
Chr12:102855280 [GRCh38]
Chr12:103249058 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.125A>G (p.Lys42Arg) |
single nucleotide variant |
Phenylketonuria [RCV002019669] |
Chr12:102912834 [GRCh38]
Chr12:103306612 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.805A>G (p.Ile269Val) |
single nucleotide variant |
Phenylketonuria [RCV002031543] |
Chr12:102852852 [GRCh38]
Chr12:103246630 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.146C>T (p.Ala49Val) |
single nucleotide variant |
Phenylketonuria [RCV001995430] |
Chr12:102912813 [GRCh38]
Chr12:103306591 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.567A>G (p.Thr189=) |
single nucleotide variant |
Phenylketonuria [RCV002126409] |
Chr12:102855275 [GRCh38]
Chr12:103249053 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.750C>A (p.Ser250=) |
single nucleotide variant |
Phenylketonuria [RCV002165147] |
Chr12:102852907 [GRCh38]
Chr12:103246685 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.510-10T>C |
single nucleotide variant |
Phenylketonuria [RCV002130134] |
Chr12:102855342 [GRCh38]
Chr12:103249120 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.509+18G>T |
single nucleotide variant |
Phenylketonuria [RCV002128474] |
Chr12:102866578 [GRCh38]
Chr12:103260356 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.441+20G>A |
single nucleotide variant |
Phenylketonuria [RCV002124547]|not provided [RCV004707784]|not specified [RCV002282695] |
Chr12:102877442 [GRCh38]
Chr12:103271220 [GRCh37]
Chr12:12q23.2 |
benign|likely benign |
| NM_000277.3(PAH):c.1158T>C (p.Tyr386=) |
single nucleotide variant |
Phenylketonuria [RCV002166768] |
Chr12:102843687 [GRCh38]
Chr12:103237465 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.843-9G>C |
single nucleotide variant |
Phenylketonuria [RCV002086427] |
Chr12:102851765 [GRCh38]
Chr12:103245543 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.352+7A>T |
single nucleotide variant |
Phenylketonuria [RCV002076209] |
Chr12:102894728 [GRCh38]
Chr12:103288506 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.969+12C>T |
single nucleotide variant |
Phenylketonuria [RCV002105784] |
Chr12:102846883 [GRCh38]
Chr12:103240661 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.60+10G>C |
single nucleotide variant |
Phenylketonuria [RCV002127186] |
Chr12:102917061 [GRCh38]
Chr12:103310839 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.771C>A (p.Gly257=) |
single nucleotide variant |
Phenylketonuria [RCV002168961] |
Chr12:102852886 [GRCh38]
Chr12:103246664 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.61-6C>T |
single nucleotide variant |
Phenylketonuria [RCV002167304] |
Chr12:102912904 [GRCh38]
Chr12:103306682 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.21A>G (p.Glu7=) |
single nucleotide variant |
Phenylketonuria [RCV002191610] |
Chr12:102917110 [GRCh38]
Chr12:103310888 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.420G>T (p.Ala140=) |
single nucleotide variant |
Phenylketonuria [RCV002127741] |
Chr12:102877483 [GRCh38]
Chr12:103271261 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1065+20C>T |
single nucleotide variant |
Phenylketonuria [RCV002193102] |
Chr12:102844316 [GRCh38]
Chr12:103238094 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.441+12G>A |
single nucleotide variant |
Phenylketonuria [RCV002117251] |
Chr12:102877450 [GRCh38]
Chr12:103271228 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.510-16T>G |
single nucleotide variant |
Phenylketonuria [RCV002077412] |
Chr12:102855348 [GRCh38]
Chr12:103249126 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.707-18T>C |
single nucleotide variant |
Phenylketonuria [RCV002194565] |
Chr12:102852968 [GRCh38]
Chr12:103246746 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.441+8C>T |
single nucleotide variant |
Phenylketonuria [RCV002116207] |
Chr12:102877454 [GRCh38]
Chr12:103271232 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1316-8C>A |
single nucleotide variant |
Phenylketonuria [RCV002110266] |
Chr12:102839226 [GRCh38]
Chr12:103233004 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1083G>A (p.Lys361=) |
single nucleotide variant |
Phenylketonuria [RCV002085489] |
Chr12:102843762 [GRCh38]
Chr12:103237540 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.954T>C (p.Ile318=) |
single nucleotide variant |
Phenylketonuria [RCV002078733] |
Chr12:102846910 [GRCh38]
Chr12:103240688 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.353-7G>A |
single nucleotide variant |
Phenylketonuria [RCV002113897] |
Chr12:102877557 [GRCh38]
Chr12:103271335 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.357C>T (p.Pro119=) |
single nucleotide variant |
Phenylketonuria [RCV002194654] |
Chr12:102877546 [GRCh38]
Chr12:103271324 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.792C>T (p.His264=) |
single nucleotide variant |
Inborn genetic diseases [RCV003161608]|Phenylketonuria [RCV002133160] |
Chr12:102852865 [GRCh38]
Chr12:103246643 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.675C>T (p.Pro225=) |
single nucleotide variant |
Phenylketonuria [RCV002205213] |
Chr12:102855167 [GRCh38]
Chr12:103248945 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1299G>A (p.Leu433=) |
single nucleotide variant |
Phenylketonuria [RCV002115249] |
Chr12:102840416 [GRCh38]
Chr12:103234194 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.756G>A (p.Arg252=) |
single nucleotide variant |
Phenylketonuria [RCV002086536] |
Chr12:102852901 [GRCh38]
Chr12:103246679 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1167A>G (p.Ala389=) |
single nucleotide variant |
Phenylketonuria [RCV002094291] |
Chr12:102843678 [GRCh38]
Chr12:103237456 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.81C>T (p.Asp27=) |
single nucleotide variant |
Phenylketonuria [RCV002212946] |
Chr12:102912878 [GRCh38]
Chr12:103306656 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.706+8C>A |
single nucleotide variant |
Phenylketonuria [RCV002152078] |
Chr12:102855128 [GRCh38]
Chr12:103248906 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.936T>A (p.Gly312=) |
single nucleotide variant |
Phenylketonuria [RCV002172783] |
Chr12:102846928 [GRCh38]
Chr12:103240706 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.291C>T (p.Ile97=) |
single nucleotide variant |
Phenylketonuria [RCV002137330] |
Chr12:102894796 [GRCh38]
Chr12:103288574 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.750C>T (p.Ser250=) |
single nucleotide variant |
Phenylketonuria [RCV002098334] |
Chr12:102852907 [GRCh38]
Chr12:103246685 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.247T>C (p.Leu83=) |
single nucleotide variant |
Phenylketonuria [RCV002179329] |
Chr12:102894840 [GRCh38]
Chr12:103288618 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.441+7C>A |
single nucleotide variant |
Phenylketonuria [RCV002100666] |
Chr12:102877455 [GRCh38]
Chr12:103271233 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.702G>A (p.Leu234=) |
single nucleotide variant |
Phenylketonuria [RCV002219138] |
Chr12:102855140 [GRCh38]
Chr12:103248918 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.927C>T (p.Ala309=) |
single nucleotide variant |
Phenylketonuria [RCV002083211] |
Chr12:102846937 [GRCh38]
Chr12:103240715 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.352+10A>G |
single nucleotide variant |
Phenylketonuria [RCV002143098] |
Chr12:102894725 [GRCh38]
Chr12:103288503 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_004316.4(ASCL1):c.151CAG[10] (p.Gln61_Gln62del) |
microsatellite |
not specified [RCV002247032] |
Chr12:102958394..102958399 [GRCh38]
Chr12:103352172..103352177 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.1078G>T (p.Glu360Ter) |
single nucleotide variant |
Phenylketonuria [RCV002260495] |
Chr12:102843767 [GRCh38]
Chr12:103237545 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.793T>C (p.Cys265Arg) |
single nucleotide variant |
Phenylketonuria [RCV002260497] |
Chr12:102852864 [GRCh38]
Chr12:103246642 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1050C>G (p.Ser350=) |
single nucleotide variant |
Phenylketonuria [RCV002099795] |
Chr12:102844351 [GRCh38]
Chr12:103238129 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.309T>G (p.Gly103=) |
single nucleotide variant |
Phenylketonuria [RCV002097826] |
Chr12:102894778 [GRCh38]
Chr12:103288556 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.801G>A (p.Gln267=) |
single nucleotide variant |
Phenylketonuria [RCV002163131] |
Chr12:102852856 [GRCh38]
Chr12:103246634 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.570G>A (p.Val190=) |
single nucleotide variant |
Phenylketonuria [RCV002102067] |
Chr12:102855272 [GRCh38]
Chr12:103249050 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.714T>A (p.Thr238=) |
single nucleotide variant |
Phenylketonuria [RCV002159503] |
Chr12:102852943 [GRCh38]
Chr12:103246721 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.201T>G (p.Ser67=) |
single nucleotide variant |
Phenylketonuria [RCV002103648] |
Chr12:102894886 [GRCh38]
Chr12:103288664 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.327T>C (p.Leu109=) |
single nucleotide variant |
Phenylketonuria [RCV002203335] |
Chr12:102894760 [GRCh38]
Chr12:103288538 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1170G>A (p.Glu390=) |
single nucleotide variant |
Phenylketonuria [RCV002178545] |
Chr12:102843675 [GRCh38]
Chr12:103237453 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.66A>C (p.Thr22=) |
single nucleotide variant |
Phenylketonuria [RCV002180060] |
Chr12:102912893 [GRCh38]
Chr12:103306671 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.969+20G>A |
single nucleotide variant |
Phenylketonuria [RCV002157698] |
Chr12:102846875 [GRCh38]
Chr12:103240653 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.1062A>G (p.Leu354=) |
single nucleotide variant |
Phenylketonuria [RCV002139339] |
Chr12:102844339 [GRCh38]
Chr12:103238117 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1315+20C>T |
single nucleotide variant |
Phenylketonuria [RCV002117799]|not provided [RCV004707764]|not specified [RCV002282691] |
Chr12:102840380 [GRCh38]
Chr12:103234158 [GRCh37]
Chr12:12q23.2 |
benign|likely benign |
| NM_000277.3(PAH):c.858G>A (p.Glu286=) |
single nucleotide variant |
Phenylketonuria [RCV002139637] |
Chr12:102851741 [GRCh38]
Chr12:103245519 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1257A>G (p.Gln419=) |
single nucleotide variant |
Phenylketonuria [RCV002154424] |
Chr12:102840458 [GRCh38]
Chr12:103234236 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.352+10A>C |
single nucleotide variant |
Phenylketonuria [RCV002082427] |
Chr12:102894725 [GRCh38]
Chr12:103288503 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1095C>G (p.Leu365=) |
single nucleotide variant |
Phenylketonuria [RCV002204659] |
Chr12:102843750 [GRCh38]
Chr12:103237528 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.441+15C>T |
single nucleotide variant |
Phenylketonuria [RCV002119097] |
Chr12:102877447 [GRCh38]
Chr12:103271225 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NC_000012.11:g.(?_103232953)_(103310908_?)dup |
duplication |
Phenylketonuria [RCV003110921] |
Chr12:103232953..103310908 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NC_000012.11:g.(?_103260354)_(103260461_?)dup |
duplication |
Phenylketonuria [RCV003110922] |
Chr12:103260354..103260461 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NC_000012.11:g.(?_103288493)_(103352733_?)dup |
duplication |
Phenylketonuria [RCV003110923] |
Chr12:103288493..103352733 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NC_000012.11:g.(?_103248776)_(103260427_?)del |
deletion |
Phenylketonuria [RCV003110924] |
Chr12:103248776..103260427 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1210G>T (p.Ala404Ser) |
single nucleotide variant |
Phenylketonuria [RCV003117014] |
Chr12:102840505 [GRCh38]
Chr12:103234283 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1258A>G (p.Arg420Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004654176]|Phenylketonuria [RCV003116040] |
Chr12:102840457 [GRCh38]
Chr12:103234235 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.471A>G (p.Arg157=) |
single nucleotide variant |
Phenylketonuria [RCV003117197] |
Chr12:102866634 [GRCh38]
Chr12:103260412 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.780C>G (p.Phe260Leu) |
single nucleotide variant |
Phenylketonuria [RCV003112260] |
Chr12:102852877 [GRCh38]
Chr12:103246655 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.350_351del (p.Thr117fs) |
microsatellite |
Phenylketonuria [RCV003131118] |
Chr12:102894736..102894737 [GRCh38]
Chr12:103288514..103288515 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.843-13_843-10del |
deletion |
Phenylketonuria [RCV002260499] |
Chr12:102851766..102851769 [GRCh38]
Chr12:103245544..103245547 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1136T>C (p.Val379Ala) |
single nucleotide variant |
Phenylketonuria [RCV002260485]|not provided [RCV003478955] |
Chr12:102843709 [GRCh38]
Chr12:103237487 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.703C>T (p.Gln235Ter) |
single nucleotide variant |
Phenylketonuria [RCV002260490] |
Chr12:102855139 [GRCh38]
Chr12:103248917 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.456_463dup (p.Arg155fs) |
duplication |
Phenylketonuria [RCV002260501] |
Chr12:102866641..102866642 [GRCh38]
Chr12:103260419..103260420 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.998T>C (p.Leu333Pro) |
single nucleotide variant |
Phenylketonuria [RCV002260498] |
Chr12:102844403 [GRCh38]
Chr12:103238181 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.969+6T>C |
single nucleotide variant |
Phenylketonuria [RCV002260500] |
Chr12:102846889 [GRCh38]
Chr12:103240667 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.215_223del (p.Leu72_Asp75delinsTyr) |
deletion |
Phenylketonuria [RCV002254727] |
Chr12:102894864..102894872 [GRCh38]
Chr12:103288642..103288650 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.722_735delinsCCTCCGACCTGTA (p.Arg241fs) |
indel |
Phenylketonuria [RCV002271852] |
Chr12:102852922..102852935 [GRCh38]
Chr12:103246700..103246713 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.332G>A (p.Arg111Gln) |
single nucleotide variant |
not specified [RCV003236404] |
Chr12:102894755 [GRCh38]
Chr12:103288533 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.1:c.169_171del |
deletion |
not provided [RCV002288037] |
|
likely pathogenic |
| NM_004316.4(ASCL1):c.111_134del (p.Ala40_Ala47del) |
deletion |
Haddad syndrome [RCV000020000] |
Chr12:102958347..102958370 [GRCh38]
Chr12:103352125..103352148 [GRCh37]
Chr12:12q23.2 |
pathogenic|uncertain significance |
| NM_000277.3(PAH):c.1127A>G (p.Asn376Ser) |
single nucleotide variant |
Phenylketonuria [RCV002297173] |
Chr12:102843718 [GRCh38]
Chr12:103237496 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_004316.4(ASCL1):c.114_128del (p.Ala43_Ala47del) |
deletion |
Congenital central hypoventilation [RCV000019999] |
Chr12:102958345..102958359 [GRCh38]
Chr12:103352123..103352137 [GRCh37]
Chr12:12q23.2 |
pathogenic|uncertain significance |
| NM_000277.3(PAH):c.1023G>C (p.Lys341Asn) |
single nucleotide variant |
Phenylketonuria [RCV002509875] |
Chr12:102844378 [GRCh38]
Chr12:103238156 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.60+2del |
deletion |
Phenylketonuria [RCV002466902] |
Chr12:102917069 [GRCh38]
Chr12:103310847 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.257G>A (p.Arg86His) |
single nucleotide variant |
Phenylketonuria [RCV002771129] |
Chr12:102894830 [GRCh38]
Chr12:103288608 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.148A>G (p.Lys50Glu) |
single nucleotide variant |
Phenylketonuria [RCV002303977] |
Chr12:102912811 [GRCh38]
Chr12:103306589 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.338_341del (p.Lys113fs) |
deletion |
Phenylketonuria [RCV003479534] |
Chr12:102894746..102894749 [GRCh38]
Chr12:103288524..103288527 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.75del (p.Ile25fs) |
deletion |
Phenylketonuria [RCV003479537] |
Chr12:102912884 [GRCh38]
Chr12:103306662 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.120_121del (p.Leu41fs) |
deletion |
Phenylketonuria [RCV002310281] |
Chr12:102912838..102912839 [GRCh38]
Chr12:103306616..103306617 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.337A>T (p.Lys113Ter) |
single nucleotide variant |
Phenylketonuria [RCV002307944] |
Chr12:102894750 [GRCh38]
Chr12:103288528 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.148A>T (p.Lys50Ter) |
single nucleotide variant |
Phenylketonuria [RCV002306556] |
Chr12:102912811 [GRCh38]
Chr12:103306589 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.467del (p.Ala156fs) |
deletion |
Phenylketonuria [RCV002306609] |
Chr12:102866638 [GRCh38]
Chr12:103260416 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.656T>A (p.Phe219Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002364449]|Phenylketonuria [RCV003098292] |
Chr12:102855186 [GRCh38]
Chr12:103248964 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.952A>G (p.Ile318Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002374231]|Phenylketonuria [RCV003094826] |
Chr12:102846912 [GRCh38]
Chr12:103240690 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.535_536del (p.Tyr179fs) |
deletion |
Phenylketonuria [RCV002308173] |
Chr12:102855306..102855307 [GRCh38]
Chr12:103249084..103249085 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.676del (p.Gln226fs) |
deletion |
Phenylketonuria [RCV002307020] |
Chr12:102855166 [GRCh38]
Chr12:103248944 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.878del (p.Leu293fs) |
deletion |
Phenylketonuria [RCV002307176] |
Chr12:102851721 [GRCh38]
Chr12:103245499 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.693_694del (p.Gln232fs) |
microsatellite |
Phenylketonuria [RCV002309032] |
Chr12:102855148..102855149 [GRCh38]
Chr12:103248926..103248927 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1111A>T (p.Lys371Ter) |
single nucleotide variant |
Phenylketonuria [RCV002309972] |
Chr12:102843734 [GRCh38]
Chr12:103237512 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1081A>T (p.Lys361Ter) |
single nucleotide variant |
Phenylketonuria [RCV002310216] |
Chr12:102843764 [GRCh38]
Chr12:103237542 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.365_366delinsT (p.Pro122fs) |
indel |
Phenylketonuria [RCV002308410] |
Chr12:102877537..102877538 [GRCh38]
Chr12:103271315..103271316 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.440del (p.Pro147fs) |
deletion |
Phenylketonuria [RCV002310268] |
Chr12:102877463 [GRCh38]
Chr12:103271241 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.640G>T (p.Glu214Ter) |
single nucleotide variant |
Phenylketonuria [RCV002306918] |
Chr12:102855202 [GRCh38]
Chr12:103248980 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1087A>T (p.Lys363Ter) |
single nucleotide variant |
Phenylketonuria [RCV002306590] |
Chr12:102843758 [GRCh38]
Chr12:103237536 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.311C>T (p.Ala104Val) |
single nucleotide variant |
Phenylketonuria [RCV002509871] |
Chr12:102894776 [GRCh38]
Chr12:103288554 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.510-1G>C |
single nucleotide variant |
Phenylketonuria [RCV002509878] |
Chr12:102855333 [GRCh38]
Chr12:103249111 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1199+1G>T |
single nucleotide variant |
Phenylketonuria [RCV002509880] |
Chr12:102843645 [GRCh38]
Chr12:103237423 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.706+531T>C |
single nucleotide variant |
Phenylketonuria [RCV002462822] |
Chr12:102854605 [GRCh38]
Chr12:103248383 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.706+608A>C |
single nucleotide variant |
Phenylketonuria [RCV002462823] |
Chr12:102854528 [GRCh38]
Chr12:103248306 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.303C>T (p.Asp101=) |
single nucleotide variant |
Phenylketonuria [RCV002994885] |
Chr12:102894784 [GRCh38]
Chr12:103288562 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1084C>T (p.Pro362Ser) |
single nucleotide variant |
Phenylketonuria [RCV002509868] |
Chr12:102843761 [GRCh38]
Chr12:103237539 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1242C>A (p.Tyr414Ter) |
single nucleotide variant |
Phenylketonuria [RCV002509877] |
Chr12:102840473 [GRCh38]
Chr12:103234251 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1245C>T (p.Asp415=) |
single nucleotide variant |
Phenylketonuria [RCV002837471] |
Chr12:102840470 [GRCh38]
Chr12:103234248 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.200C>A (p.Ser67Tyr) |
single nucleotide variant |
Phenylketonuria [RCV003034020] |
Chr12:102894887 [GRCh38]
Chr12:103288665 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.23del (p.Asn8fs) |
deletion |
Phenylketonuria [RCV003014025] |
Chr12:102917108 [GRCh38]
Chr12:103310886 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.826A>T (p.Met276Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002727585] |
Chr12:102852831 [GRCh38]
Chr12:103246609 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.615G>A (p.Glu205=) |
single nucleotide variant |
Phenylketonuria [RCV003035025] |
Chr12:102855227 [GRCh38]
Chr12:103249005 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.442-2A>G |
single nucleotide variant |
Phenylketonuria [RCV002509872] |
Chr12:102866665 [GRCh38]
Chr12:103260443 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1066-3C>G |
single nucleotide variant |
Phenylketonuria [RCV002509873] |
Chr12:102843782 [GRCh38]
Chr12:103237560 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1096C>G (p.Pro366Ala) |
single nucleotide variant |
Phenylketonuria [RCV002509876] |
Chr12:102843749 [GRCh38]
Chr12:103237527 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.843T>A (p.Pro281=) |
single nucleotide variant |
Phenylketonuria [RCV002509881] |
Chr12:102851756 [GRCh38]
Chr12:103245534 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_004316.4(ASCL1):c.127G>A (p.Ala43Thr) |
single nucleotide variant |
not specified [RCV004229001] |
Chr12:102958371 [GRCh38]
Chr12:103352149 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1305T>C (p.Asp435=) |
single nucleotide variant |
Phenylketonuria [RCV002858420] |
Chr12:102840410 [GRCh38]
Chr12:103234188 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1177_1178insT (p.Asn393fs) |
insertion |
Phenylketonuria [RCV002509870] |
Chr12:102843667..102843668 [GRCh38]
Chr12:103237445..103237446 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1316-1G>C |
single nucleotide variant |
Phenylketonuria [RCV002509879] |
Chr12:102839219 [GRCh38]
Chr12:103232997 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1176dup (p.Asn393Ter) |
duplication |
Phenylketonuria [RCV002509869] |
Chr12:102843668..102843669 [GRCh38]
Chr12:103237446..103237447 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1016C>T (p.Ser339Phe) |
single nucleotide variant |
Phenylketonuria [RCV002509874] |
Chr12:102844385 [GRCh38]
Chr12:103238163 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1032T>C (p.Gly344=) |
single nucleotide variant |
Phenylketonuria [RCV002681351] |
Chr12:102844369 [GRCh38]
Chr12:103238147 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1266G>A (p.Glu422=) |
single nucleotide variant |
Phenylketonuria [RCV003033904] |
Chr12:102840449 [GRCh38]
Chr12:103234227 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.899C>G (p.Ala300Gly) |
single nucleotide variant |
Phenylketonuria [RCV002971501] |
Chr12:102851700 [GRCh38]
Chr12:103245478 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.22A>G (p.Asn8Asp) |
single nucleotide variant |
Phenylketonuria [RCV003099019] |
Chr12:102917109 [GRCh38]
Chr12:103310887 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1066-19T>G |
single nucleotide variant |
Phenylketonuria [RCV002843314] |
Chr12:102843798 [GRCh38]
Chr12:103237576 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.61-9A>C |
single nucleotide variant |
Phenylketonuria [RCV002663090] |
Chr12:102912907 [GRCh38]
Chr12:103306685 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.98G>T (p.Gly33Val) |
single nucleotide variant |
Phenylketonuria [RCV002976127] |
Chr12:102912861 [GRCh38]
Chr12:103306639 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.509+9del |
deletion |
Phenylketonuria [RCV003055574] |
Chr12:102866587 [GRCh38]
Chr12:103260365 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1026A>C (p.Ala342=) |
single nucleotide variant |
Phenylketonuria [RCV002913955] |
Chr12:102844375 [GRCh38]
Chr12:103238153 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.353-18G>A |
single nucleotide variant |
Phenylketonuria [RCV002571948] |
Chr12:102877568 [GRCh38]
Chr12:103271346 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_004316.4(ASCL1):c.47C>A (p.Pro16His) |
single nucleotide variant |
not specified [RCV004142207] |
Chr12:102958291 [GRCh38]
Chr12:103352069 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.352+7A>C |
single nucleotide variant |
Phenylketonuria [RCV003038602] |
Chr12:102894728 [GRCh38]
Chr12:103288506 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.837dup (p.Glu280fs) |
duplication |
Phenylketonuria [RCV003002885] |
Chr12:102852819..102852820 [GRCh38]
Chr12:103246597..103246598 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.556A>G (p.Thr186Ala) |
single nucleotide variant |
Phenylketonuria [RCV003038667] |
Chr12:102855286 [GRCh38]
Chr12:103249064 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.330A>G (p.Ser110=) |
single nucleotide variant |
Phenylketonuria [RCV002740397] |
Chr12:102894757 [GRCh38]
Chr12:103288535 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.827T>C (p.Met276Thr) |
single nucleotide variant |
Phenylketonuria [RCV003079148]|not provided [RCV004721109] |
Chr12:102852830 [GRCh38]
Chr12:103246608 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.670A>G (p.Ile224Val) |
single nucleotide variant |
Phenylketonuria [RCV003077826] |
Chr12:102855172 [GRCh38]
Chr12:103248950 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1050C>A (p.Ser350=) |
single nucleotide variant |
Phenylketonuria [RCV003037885] |
Chr12:102844351 [GRCh38]
Chr12:103238129 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.707-59C>G |
single nucleotide variant |
Phenylketonuria [RCV002620279] |
Chr12:102853009 [GRCh38]
Chr12:103246787 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.510-7A>G |
single nucleotide variant |
Phenylketonuria [RCV003053489] |
Chr12:102855339 [GRCh38]
Chr12:103249117 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.515A>G (p.Gln172Arg) |
single nucleotide variant |
Phenylketonuria [RCV002795207] |
Chr12:102855327 [GRCh38]
Chr12:103249105 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.993T>C (p.Phe331=) |
single nucleotide variant |
Phenylketonuria [RCV003077422] |
Chr12:102844408 [GRCh38]
Chr12:103238186 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1282C>G (p.Gln428Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002695260]|Phenylketonuria [RCV002676879] |
Chr12:102840433 [GRCh38]
Chr12:103234211 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.441+16G>A |
single nucleotide variant |
Phenylketonuria [RCV002909482] |
Chr12:102877446 [GRCh38]
Chr12:103271224 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1164G>C (p.Val388=) |
single nucleotide variant |
Phenylketonuria [RCV002889148] |
Chr12:102843681 [GRCh38]
Chr12:103237459 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.543G>A (p.Glu181=) |
single nucleotide variant |
Phenylketonuria [RCV003037958] |
Chr12:102855299 [GRCh38]
Chr12:103249077 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.706+12T>G |
single nucleotide variant |
Phenylketonuria [RCV002705703] |
Chr12:102855124 [GRCh38]
Chr12:103248902 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.214T>G (p.Leu72Val) |
single nucleotide variant |
Phenylketonuria [RCV002627181] |
Chr12:102894873 [GRCh38]
Chr12:103288651 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.706+9A>G |
single nucleotide variant |
Phenylketonuria [RCV002572748] |
Chr12:102855127 [GRCh38]
Chr12:103248905 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.442-4C>T |
single nucleotide variant |
Phenylketonuria [RCV002596610] |
Chr12:102866667 [GRCh38]
Chr12:103260445 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.339G>A (p.Lys113=) |
single nucleotide variant |
Phenylketonuria [RCV002829826] |
Chr12:102894748 [GRCh38]
Chr12:103288526 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.442-7C>A |
single nucleotide variant |
Phenylketonuria [RCV002790760] |
Chr12:102866670 [GRCh38]
Chr12:103260448 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.789C>T (p.Phe263=) |
single nucleotide variant |
Phenylketonuria [RCV002642745] |
Chr12:102852868 [GRCh38]
Chr12:103246646 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.435C>T (p.Asp145=) |
single nucleotide variant |
Phenylketonuria [RCV002572986] |
Chr12:102877468 [GRCh38]
Chr12:103271246 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1049C>G (p.Ser350Cys) |
single nucleotide variant |
Phenylketonuria [RCV003041524] |
Chr12:102844352 [GRCh38]
Chr12:103238130 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.493_496del (p.Ala165fs) |
deletion |
Phenylketonuria [RCV002890100] |
Chr12:102866609..102866612 [GRCh38]
Chr12:103260387..103260390 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.264G>A (p.Leu88=) |
single nucleotide variant |
Phenylketonuria [RCV003007550] |
Chr12:102894823 [GRCh38]
Chr12:103288601 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.870T>A (p.His290Gln) |
single nucleotide variant |
Phenylketonuria [RCV002894650] |
Chr12:102851729 [GRCh38]
Chr12:103245507 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.61-19A>G |
single nucleotide variant |
Phenylketonuria [RCV003084585] |
Chr12:102912917 [GRCh38]
Chr12:103306695 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1065+7C>T |
single nucleotide variant |
Phenylketonuria [RCV002766721] |
Chr12:102844329 [GRCh38]
Chr12:103238107 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.419C>T (p.Ala140Val) |
single nucleotide variant |
Phenylketonuria [RCV002574572] |
Chr12:102877484 [GRCh38]
Chr12:103271262 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.211C>T (p.Arg71Cys) |
single nucleotide variant |
Phenylketonuria [RCV003058394] |
Chr12:102894876 [GRCh38]
Chr12:103288654 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.45C>G (p.Leu15=) |
single nucleotide variant |
Phenylketonuria [RCV002894425] |
Chr12:102917086 [GRCh38]
Chr12:103310864 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1066-8G>C |
single nucleotide variant |
Phenylketonuria [RCV003007790] |
Chr12:102843787 [GRCh38]
Chr12:103237565 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.521T>A (p.Ile174Asn) |
single nucleotide variant |
Phenylketonuria [RCV003041168] |
Chr12:102855321 [GRCh38]
Chr12:103249099 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.839A>C (p.Glu280Ala) |
single nucleotide variant |
Phenylketonuria [RCV003041167]|not provided [RCV003229102] |
Chr12:102852818 [GRCh38]
Chr12:103246596 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.714T>C (p.Thr238=) |
single nucleotide variant |
Phenylketonuria [RCV002835223] |
Chr12:102852943 [GRCh38]
Chr12:103246721 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.650G>T (p.Cys217Phe) |
single nucleotide variant |
Phenylketonuria [RCV002601709] |
Chr12:102855192 [GRCh38]
Chr12:103248970 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.297G>A (p.Arg99=) |
single nucleotide variant |
Phenylketonuria [RCV002720744] |
Chr12:102894790 [GRCh38]
Chr12:103288568 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1172G>T (p.Ser391Ile) |
single nucleotide variant |
Phenylketonuria [RCV003062533] |
Chr12:102843673 [GRCh38]
Chr12:103237451 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.192C>T (p.His64=) |
single nucleotide variant |
Phenylketonuria [RCV003010318] |
Chr12:102894895 [GRCh38]
Chr12:103288673 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.44T>G (p.Leu15Arg) |
single nucleotide variant |
Phenylketonuria [RCV002834999] |
Chr12:102917087 [GRCh38]
Chr12:103310865 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.169-8T>C |
single nucleotide variant |
Phenylketonuria [RCV003009979] |
Chr12:102894926 [GRCh38]
Chr12:103288704 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.867A>T (p.Gly289=) |
single nucleotide variant |
Phenylketonuria [RCV002856397] |
Chr12:102851732 [GRCh38]
Chr12:103245510 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.876C>A (p.Pro292=) |
single nucleotide variant |
Phenylketonuria [RCV002899068] |
Chr12:102851723 [GRCh38]
Chr12:103245501 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.574A>G (p.Lys192Glu) |
single nucleotide variant |
Phenylketonuria [RCV003010189]|not provided [RCV003443103] |
Chr12:102855268 [GRCh38]
Chr12:103249046 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1342C>T (p.Leu448Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004065583]|Phenylketonuria [RCV002600870] |
Chr12:102839192 [GRCh38]
Chr12:103232970 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.920G>T (p.Gly307Val) |
single nucleotide variant |
Phenylketonuria [RCV002857028] |
Chr12:102846944 [GRCh38]
Chr12:103240722 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.371C>A (p.Thr124Asn) |
single nucleotide variant |
Phenylketonuria [RCV002670756] |
Chr12:102877532 [GRCh38]
Chr12:103271310 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.450dup (p.Asp151fs) |
duplication |
Phenylketonuria [RCV003031124] |
Chr12:102866654..102866655 [GRCh38]
Chr12:103260432..103260433 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.553_706+646delinsTACTTACCTAT |
indel |
Phenylketonuria [RCV002857118] |
Chr12:102854490..102855289 [GRCh38]
Chr12:103248268..103249067 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.641A>G (p.Glu214Gly) |
single nucleotide variant |
Phenylketonuria [RCV003061591] |
Chr12:102855201 [GRCh38]
Chr12:103248979 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.912+9T>C |
single nucleotide variant |
Phenylketonuria [RCV002580922] |
Chr12:102851678 [GRCh38]
Chr12:103245456 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.668A>G (p.Asn223Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002714262] |
Chr12:102855174 [GRCh38]
Chr12:103248952 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.361T>C (p.Phe121Leu) |
single nucleotide variant |
Phenylketonuria [RCV003062537] |
Chr12:102877542 [GRCh38]
Chr12:103271320 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.228G>A (p.Glu76=) |
single nucleotide variant |
Phenylketonuria [RCV002720595] |
Chr12:102894859 [GRCh38]
Chr12:103288637 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1111_1117del (p.Lys371fs) |
deletion |
Phenylketonuria [RCV003088174] |
Chr12:102843728..102843734 [GRCh38]
Chr12:103237506..103237512 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.873_880del (p.Pro292fs) |
deletion |
Phenylketonuria [RCV003031372] |
Chr12:102851719..102851726 [GRCh38]
Chr12:103245497..103245504 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.626T>C (p.Ile209Thr) |
single nucleotide variant |
Phenylketonuria [RCV002632740] |
Chr12:102855216 [GRCh38]
Chr12:103248994 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.632dup (p.Leu212fs) |
duplication |
Phenylketonuria [RCV002630531] |
Chr12:102855209..102855210 [GRCh38]
Chr12:103248987..103248988 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.312C>T (p.Ala104=) |
single nucleotide variant |
Phenylketonuria [RCV002654174] |
Chr12:102894775 [GRCh38]
Chr12:103288553 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.670A>C (p.Ile224Leu) |
single nucleotide variant |
Phenylketonuria [RCV003052722]|not provided [RCV004721104] |
Chr12:102855172 [GRCh38]
Chr12:103248950 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.946G>T (p.Glu316Ter) |
single nucleotide variant |
Phenylketonuria [RCV003131110] |
Chr12:102846918 [GRCh38]
Chr12:103240696 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.752C>T (p.Ser251Phe) |
single nucleotide variant |
Phenylketonuria [RCV002654752] |
Chr12:102852905 [GRCh38]
Chr12:103246683 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.816A>G (p.Gly272=) |
single nucleotide variant |
Phenylketonuria [RCV002607514] |
Chr12:102852841 [GRCh38]
Chr12:103246619 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.458T>C (p.Val153Ala) |
single nucleotide variant |
Phenylketonuria [RCV002587324] |
Chr12:102866647 [GRCh38]
Chr12:103260425 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1080G>A (p.Glu360=) |
single nucleotide variant |
Inborn genetic diseases [RCV004651985]|Phenylketonuria [RCV002583553] |
Chr12:102843765 [GRCh38]
Chr12:103237543 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.913-5T>C |
single nucleotide variant |
PAH-related disorder [RCV003953829]|Phenylketonuria [RCV003070966] |
Chr12:102846956 [GRCh38]
Chr12:103240734 [GRCh37]
Chr12:12q23.2 |
likely benign|uncertain significance |
| NM_000277.3(PAH):c.1315A>G (p.Ser439Gly) |
single nucleotide variant |
not specified [RCV003155771] |
Chr12:102840400 [GRCh38]
Chr12:103234178 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.735_737delinsAG (p.Ala246fs) |
indel |
not provided [RCV004792250] |
Chr12:102852920..102852922 [GRCh38]
Chr12:103246698..103246700 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.257G>C (p.Arg86Pro) |
single nucleotide variant |
Phenylketonuria [RCV004795747] |
Chr12:102894830 [GRCh38]
Chr12:103288608 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.467C>A (p.Ala156Glu) |
single nucleotide variant |
not specified [RCV003324335] |
Chr12:102866638 [GRCh38]
Chr12:103260416 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1238_1241delinsCCTG (p.Arg413_Tyr414delinsProCys) |
indel |
Phenylketonuria [RCV003324336] |
Chr12:102840474..102840477 [GRCh38]
Chr12:103234252..103234255 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.199T>G (p.Ser67Ala) |
single nucleotide variant |
Phenylketonuria [RCV003328729] |
Chr12:102894888 [GRCh38]
Chr12:103288666 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_004316.4(ASCL1):c.134C>T (p.Ala45Val) |
single nucleotide variant |
not specified [RCV004345947] |
Chr12:102958378 [GRCh38]
Chr12:103352156 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.679C>A (p.Leu227Met) |
single nucleotide variant |
not specified [RCV003332002] |
Chr12:102855163 [GRCh38]
Chr12:103248941 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.385G>C (p.Asp129His) |
single nucleotide variant |
not specified [RCV003331922] |
Chr12:102877518 [GRCh38]
Chr12:103271296 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1334del (p.Cys445fs) |
deletion |
Phenylketonuria [RCV003476586] |
Chr12:102839200 [GRCh38]
Chr12:103232978 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.578C>T (p.Thr193Ile) |
single nucleotide variant |
Phenylketonuria [RCV003476588] |
Chr12:102855264 [GRCh38]
Chr12:103249042 [GRCh37]
Chr12:12q23.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000277.3(PAH):c.1065+8C>A |
single nucleotide variant |
Phenylketonuria [RCV003880223] |
Chr12:102844328 [GRCh38]
Chr12:103238106 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.929C>G (p.Ser310Cys) |
single nucleotide variant |
Phenylketonuria [RCV003476589] |
Chr12:102846935 [GRCh38]
Chr12:103240713 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1273G>A (p.Asp425Asn) |
single nucleotide variant |
not provided [RCV003477324] |
Chr12:102840442 [GRCh38]
Chr12:103234220 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.374T>C (p.Ile125Thr) |
single nucleotide variant |
not provided [RCV003477325] |
Chr12:102877529 [GRCh38]
Chr12:103271307 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_004316.4(ASCL1):c.102_114delinsC (p.Ala44_Ala47del) |
indel |
not provided [RCV003490482] |
Chr12:102958346..102958358 [GRCh38]
Chr12:103352124..103352136 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.353-2A>T |
single nucleotide variant |
Phenylketonuria [RCV003479541] |
Chr12:102877552 [GRCh38]
Chr12:103271330 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.720C>T (p.Phe240=) |
single nucleotide variant |
Phenylketonuria [RCV003486184] |
Chr12:102852937 [GRCh38]
Chr12:103246715 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.72T>A (p.Tyr24Ter) |
single nucleotide variant |
Phenylketonuria [RCV003476585] |
Chr12:102912887 [GRCh38]
Chr12:103306665 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.618_625del (p.Asn207fs) |
deletion |
Phenylketonuria [RCV003476587] |
Chr12:102855217..102855224 [GRCh38]
Chr12:103248995..103249002 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.510-19_667del |
deletion |
Phenylketonuria [RCV003479542] |
Chr12:102855175..102855351 [GRCh38]
Chr12:103248953..103249129 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.277_280del (p.Asn93fs) |
deletion |
Phenylketonuria [RCV003479533] |
Chr12:102894807..102894810 [GRCh38]
Chr12:103288585..103288588 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1154T>C (p.Leu385Pro) |
single nucleotide variant |
Phenylketonuria [RCV003479540] |
Chr12:102843691 [GRCh38]
Chr12:103237469 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.971T>A (p.Ile324Asn) |
single nucleotide variant |
Phenylketonuria [RCV003479543] |
Chr12:102844430 [GRCh38]
Chr12:103238208 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.792del (p.Cys265fs) |
deletion |
Phenylketonuria [RCV003471651] |
Chr12:102852865 [GRCh38]
Chr12:103246643 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.797C>T (p.Thr266Ile) |
single nucleotide variant |
Phenylketonuria [RCV003471652] |
Chr12:102852860 [GRCh38]
Chr12:103246638 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_004316.4(ASCL1):c.101C>G (p.Thr34Arg) |
single nucleotide variant |
not provided [RCV003390287] |
Chr12:102958345 [GRCh38]
Chr12:103352123 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.669del (p.Asn223fs) |
deletion |
Phenylketonuria [RCV003479535] |
Chr12:102855173 [GRCh38]
Chr12:103248951 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1108del (p.Glu370fs) |
deletion |
Phenylketonuria [RCV003388798] |
Chr12:102843737 [GRCh38]
Chr12:103237515 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1002C>A (p.Cys334Ter) |
single nucleotide variant |
Phenylketonuria [RCV003476584] |
Chr12:102844399 [GRCh38]
Chr12:103238177 [GRCh37]
Chr12:12q23.2 |
pathogenic|likely pathogenic |
| NM_000277.3(PAH):c.509+41C>T |
single nucleotide variant |
not provided [RCV003391963] |
Chr12:102866555 [GRCh38]
Chr12:103260333 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.419C>A (p.Ala140Glu) |
single nucleotide variant |
not provided [RCV003391964] |
Chr12:102877484 [GRCh38]
Chr12:103271262 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.961C>A (p.Leu321Ile) |
single nucleotide variant |
not specified [RCV003404748] |
Chr12:102846903 [GRCh38]
Chr12:103240681 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1199+5G>A |
single nucleotide variant |
not specified [RCV003404876] |
Chr12:102843641 [GRCh38]
Chr12:103237419 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.693del (p.Gln232fs) |
deletion |
Phenylketonuria [RCV003471650] |
Chr12:102855149 [GRCh38]
Chr12:103248927 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.506G>T (p.Arg169Leu) |
single nucleotide variant |
Phenylketonuria [RCV003471653] |
Chr12:102866599 [GRCh38]
Chr12:103260377 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.256del (p.Arg86fs) |
deletion |
Phenylketonuria [RCV003471654] |
Chr12:102894831 [GRCh38]
Chr12:103288609 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.973_976del (p.Tyr325fs) |
deletion |
Phenylketonuria [RCV003471655] |
Chr12:102844425..102844428 [GRCh38]
Chr12:103238203..103238206 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.352+16A>G |
single nucleotide variant |
Phenylketonuria [RCV003881123] |
Chr12:102894719 [GRCh38]
Chr12:103288497 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.61-10T>C |
single nucleotide variant |
Phenylketonuria [RCV003598962] |
Chr12:102912908 [GRCh38]
Chr12:103306686 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.204A>G (p.Arg68=) |
single nucleotide variant |
Phenylketonuria [RCV003598991] |
Chr12:102894883 [GRCh38]
Chr12:103288661 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1115_1116dup (p.Ala373fs) |
duplication |
Phenylketonuria [RCV003495980] |
Chr12:102843728..102843729 [GRCh38]
Chr12:103237506..103237507 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.990G>A (p.Glu330=) |
single nucleotide variant |
Phenylketonuria [RCV003599085] |
Chr12:102844411 [GRCh38]
Chr12:103238189 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.509+15C>T |
single nucleotide variant |
Phenylketonuria [RCV003597729] |
Chr12:102866581 [GRCh38]
Chr12:103260359 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1199+88C>T |
single nucleotide variant |
Phenylketonuria [RCV003597758] |
Chr12:102843558 [GRCh38]
Chr12:103237336 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1098C>G (p.Pro366=) |
single nucleotide variant |
Phenylketonuria [RCV003597710] |
Chr12:102843747 [GRCh38]
Chr12:103237525 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.61-17T>C |
single nucleotide variant |
Phenylketonuria [RCV003597871] |
Chr12:102912915 [GRCh38]
Chr12:103306693 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1248A>G (p.Pro416=) |
single nucleotide variant |
Phenylketonuria [RCV003597885] |
Chr12:102840467 [GRCh38]
Chr12:103234245 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.835C>A (p.Pro279Thr) |
single nucleotide variant |
Phenylketonuria [RCV003597939] |
Chr12:102852822 [GRCh38]
Chr12:103246600 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1315+16C>A |
single nucleotide variant |
Phenylketonuria [RCV003597951] |
Chr12:102840384 [GRCh38]
Chr12:103234162 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1199+19T>C |
single nucleotide variant |
Phenylketonuria [RCV003494880] |
Chr12:102843627 [GRCh38]
Chr12:103237405 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.168+14T>C |
single nucleotide variant |
Phenylketonuria [RCV003494907] |
Chr12:102912777 [GRCh38]
Chr12:103306555 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.441+20G>T |
single nucleotide variant |
Phenylketonuria [RCV003598232] |
Chr12:102877442 [GRCh38]
Chr12:103271220 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.526C>A (p.Arg176=) |
single nucleotide variant |
Phenylketonuria [RCV003599573] |
Chr12:102855316 [GRCh38]
Chr12:103249094 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.465T>C (p.Arg155=) |
single nucleotide variant |
Phenylketonuria [RCV003831870] |
Chr12:102866640 [GRCh38]
Chr12:103260418 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.742C>T (p.Leu248=) |
single nucleotide variant |
Phenylketonuria [RCV003598373] |
Chr12:102852915 [GRCh38]
Chr12:103246693 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.168+17T>C |
single nucleotide variant |
Phenylketonuria [RCV003598426] |
Chr12:102912774 [GRCh38]
Chr12:103306552 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.707-4C>A |
single nucleotide variant |
Phenylketonuria [RCV003598407] |
Chr12:102852954 [GRCh38]
Chr12:103246732 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1315+14del |
deletion |
Phenylketonuria [RCV003599819] |
Chr12:102840386 [GRCh38]
Chr12:103234164 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1199+18G>A |
single nucleotide variant |
Phenylketonuria [RCV003598648] |
Chr12:102843628 [GRCh38]
Chr12:103237406 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1200-19C>A |
single nucleotide variant |
Phenylketonuria [RCV003598819] |
Chr12:102840534 [GRCh38]
Chr12:103234312 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.706+11A>T |
single nucleotide variant |
Phenylketonuria [RCV003598835] |
Chr12:102855125 [GRCh38]
Chr12:103248903 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.754C>A (p.Arg252=) |
single nucleotide variant |
Phenylketonuria [RCV003597834] |
Chr12:102852903 [GRCh38]
Chr12:103246681 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.39G>A (p.Arg13=) |
single nucleotide variant |
Phenylketonuria [RCV003598825] |
Chr12:102917092 [GRCh38]
Chr12:103310870 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.809_820del (p.Arg270_Ser273del) |
deletion |
Phenylketonuria [RCV003496251] |
Chr12:102852837..102852848 [GRCh38]
Chr12:103246615..103246626 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.78del (p.Asp27fs) |
deletion |
Phenylketonuria [RCV003496258] |
Chr12:102912881 [GRCh38]
Chr12:103306659 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.510-14T>C |
single nucleotide variant |
Phenylketonuria [RCV003598755] |
Chr12:102855346 [GRCh38]
Chr12:103249124 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.707-2A>T |
single nucleotide variant |
Phenylketonuria [RCV003494812] |
Chr12:102852952 [GRCh38]
Chr12:103246730 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.679C>T (p.Leu227=) |
single nucleotide variant |
Phenylketonuria [RCV003599683] |
Chr12:102855163 [GRCh38]
Chr12:103248941 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.441+18del |
deletion |
Phenylketonuria [RCV003495757] |
Chr12:102877444 [GRCh38]
Chr12:103271222 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1017C>T (p.Ser339=) |
single nucleotide variant |
Phenylketonuria [RCV003598218] |
Chr12:102844384 [GRCh38]
Chr12:103238162 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.472C>G (p.Arg158Gly) |
single nucleotide variant |
Phenylketonuria [RCV003598234] |
Chr12:102866633 [GRCh38]
Chr12:103260411 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1221T>G (p.Pro407=) |
single nucleotide variant |
Phenylketonuria [RCV003598257] |
Chr12:102840494 [GRCh38]
Chr12:103234272 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.442-14C>G |
single nucleotide variant |
Phenylketonuria [RCV003598902] |
Chr12:102866677 [GRCh38]
Chr12:103260455 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1200-17T>G |
single nucleotide variant |
Phenylketonuria [RCV003494983] |
Chr12:102840532 [GRCh38]
Chr12:103234310 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.60+17T>A |
single nucleotide variant |
Phenylketonuria [RCV003495857] |
Chr12:102917054 [GRCh38]
Chr12:103310832 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.969+14C>G |
single nucleotide variant |
Phenylketonuria [RCV003598350] |
Chr12:102846881 [GRCh38]
Chr12:103240659 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1066-5T>G |
single nucleotide variant |
Phenylketonuria [RCV003597528] |
Chr12:102843784 [GRCh38]
Chr12:103237562 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.168+18G>T |
single nucleotide variant |
Phenylketonuria [RCV003598384] |
Chr12:102912773 [GRCh38]
Chr12:103306551 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.706+19C>A |
single nucleotide variant |
Phenylketonuria [RCV003599709] |
Chr12:102855117 [GRCh38]
Chr12:103248895 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.510-8T>C |
single nucleotide variant |
Phenylketonuria [RCV003598474] |
Chr12:102855340 [GRCh38]
Chr12:103249118 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.441+16G>T |
single nucleotide variant |
Phenylketonuria [RCV003495351] |
Chr12:102877446 [GRCh38]
Chr12:103271224 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.353-14T>C |
single nucleotide variant |
Phenylketonuria [RCV003496026] |
Chr12:102877564 [GRCh38]
Chr12:103271342 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.184C>T (p.Leu62=) |
single nucleotide variant |
Phenylketonuria [RCV003597643] |
Chr12:102894903 [GRCh38]
Chr12:103288681 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1315+10T>G |
single nucleotide variant |
Phenylketonuria [RCV003495374] |
Chr12:102840390 [GRCh38]
Chr12:103234168 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.657C>T (p.Phe219=) |
single nucleotide variant |
Phenylketonuria [RCV003496616] |
Chr12:102855185 [GRCh38]
Chr12:103248963 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.442-17T>C |
single nucleotide variant |
Phenylketonuria [RCV003598647] |
Chr12:102866680 [GRCh38]
Chr12:103260458 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1113G>A (p.Lys371=) |
single nucleotide variant |
Phenylketonuria [RCV003599296] |
Chr12:102843732 [GRCh38]
Chr12:103237510 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1253C>A (p.Thr418Asn) |
single nucleotide variant |
Phenylketonuria [RCV003494676] |
Chr12:102840462 [GRCh38]
Chr12:103234240 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.60+7_60+12del |
deletion |
Phenylketonuria [RCV003495527] |
Chr12:102917059..102917064 [GRCh38]
Chr12:103310837..103310842 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.27A>C (p.Pro9=) |
single nucleotide variant |
Phenylketonuria [RCV003599324] |
Chr12:102917104 [GRCh38]
Chr12:103310882 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.732T>G (p.Pro244=) |
single nucleotide variant |
Phenylketonuria [RCV003496040] |
Chr12:102852925 [GRCh38]
Chr12:103246703 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.553A>G (p.Lys185Glu) |
single nucleotide variant |
Phenylketonuria [RCV003496597] |
Chr12:102855289 [GRCh38]
Chr12:103249067 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.842+11T>C |
single nucleotide variant |
Phenylketonuria [RCV003599814] |
Chr12:102852804 [GRCh38]
Chr12:103246582 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.353-16C>T |
single nucleotide variant |
Phenylketonuria [RCV003496743] |
Chr12:102877566 [GRCh38]
Chr12:103271344 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.432T>C (p.Ala144=) |
single nucleotide variant |
Phenylketonuria [RCV003495598] |
Chr12:102877471 [GRCh38]
Chr12:103271249 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1013A>T (p.Asp338Val) |
single nucleotide variant |
Phenylketonuria [RCV003598381] |
Chr12:102844388 [GRCh38]
Chr12:103238166 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.206C>T (p.Pro69Leu) |
single nucleotide variant |
Phenylketonuria [RCV003496249] |
Chr12:102894881 [GRCh38]
Chr12:103288659 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.552_554del (p.Lys185del) |
deletion |
Phenylketonuria [RCV003495702] |
Chr12:102855288..102855290 [GRCh38]
Chr12:103249066..103249068 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.60+12C>T |
single nucleotide variant |
Phenylketonuria [RCV003599402] |
Chr12:102917059 [GRCh38]
Chr12:103310837 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.912+18dup |
duplication |
Phenylketonuria [RCV003598679] |
Chr12:102851668..102851669 [GRCh38]
Chr12:103245446..103245447 [GRCh37]
Chr12:12q23.2 |
benign |
| NM_000277.3(PAH):c.384G>A (p.Leu128=) |
single nucleotide variant |
Phenylketonuria [RCV003495790] |
Chr12:102877519 [GRCh38]
Chr12:103271297 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.169-18C>A |
single nucleotide variant |
Phenylketonuria [RCV003598878] |
Chr12:102894936 [GRCh38]
Chr12:103288714 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.706+11A>C |
single nucleotide variant |
Phenylketonuria [RCV003598929] |
Chr12:102855125 [GRCh38]
Chr12:103248903 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.60+19A>G |
single nucleotide variant |
Phenylketonuria [RCV003598942] |
Chr12:102917052 [GRCh38]
Chr12:103310830 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.713C>T (p.Thr238Ile) |
single nucleotide variant |
Phenylketonuria [RCV003599024] |
Chr12:102852944 [GRCh38]
Chr12:103246722 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1065+15G>A |
single nucleotide variant |
Phenylketonuria [RCV003599676] |
Chr12:102844321 [GRCh38]
Chr12:103238099 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.707-18T>G |
single nucleotide variant |
Phenylketonuria [RCV003599707] |
Chr12:102852968 [GRCh38]
Chr12:103246746 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1315+17T>C |
single nucleotide variant |
Phenylketonuria [RCV003598784] |
Chr12:102840383 [GRCh38]
Chr12:103234161 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.930T>C (p.Ser310=) |
single nucleotide variant |
Phenylketonuria [RCV003599231] |
Chr12:102846934 [GRCh38]
Chr12:103240712 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.61-4del |
deletion |
Phenylketonuria [RCV003599252] |
Chr12:102912902 [GRCh38]
Chr12:103306680 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.169-16_169-15del |
deletion |
Phenylketonuria [RCV003598322] |
Chr12:102894933..102894934 [GRCh38]
Chr12:103288711..103288712 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.61-15C>A |
single nucleotide variant |
Phenylketonuria [RCV003825722] |
Chr12:102912913 [GRCh38]
Chr12:103306691 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.969+14C>T |
single nucleotide variant |
Phenylketonuria [RCV003598843] |
Chr12:102846881 [GRCh38]
Chr12:103240659 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1200-16G>A |
single nucleotide variant |
Phenylketonuria [RCV003598756] |
Chr12:102840531 [GRCh38]
Chr12:103234309 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1315+13C>T |
single nucleotide variant |
Phenylketonuria [RCV003598749] |
Chr12:102840387 [GRCh38]
Chr12:103234165 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1215A>G (p.Thr405=) |
single nucleotide variant |
Phenylketonuria [RCV003598748] |
Chr12:102840500 [GRCh38]
Chr12:103234278 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.477G>A (p.Lys159=) |
single nucleotide variant |
Phenylketonuria [RCV003599524] |
Chr12:102866628 [GRCh38]
Chr12:103260406 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.707-12T>C |
single nucleotide variant |
Phenylketonuria [RCV003496171] |
Chr12:102852962 [GRCh38]
Chr12:103246740 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1065+16G>A |
single nucleotide variant |
Phenylketonuria [RCV003597889] |
Chr12:102844320 [GRCh38]
Chr12:103238098 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.912+15T>G |
single nucleotide variant |
Phenylketonuria [RCV003599542] |
Chr12:102851672 [GRCh38]
Chr12:103245450 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.807C>A (p.Ile269=) |
single nucleotide variant |
Phenylketonuria [RCV003597479] |
Chr12:102852850 [GRCh38]
Chr12:103246628 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1011_1024dup (p.Ala342delinsGluThrProTer) |
duplication |
Phenylketonuria [RCV003598981] |
Chr12:102844376..102844377 [GRCh38]
Chr12:103238154..103238155 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1029T>C (p.Tyr343=) |
single nucleotide variant |
Phenylketonuria [RCV003598909] |
Chr12:102844372 [GRCh38]
Chr12:103238150 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.510-9G>A |
single nucleotide variant |
Phenylketonuria [RCV003494933] |
Chr12:102855341 [GRCh38]
Chr12:103249119 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.969+18C>T |
single nucleotide variant |
Phenylketonuria [RCV003598492] |
Chr12:102846877 [GRCh38]
Chr12:103240655 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1316-9T>C |
single nucleotide variant |
Phenylketonuria [RCV003599026] |
Chr12:102839227 [GRCh38]
Chr12:103233005 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.707-17_707-14del |
microsatellite |
Phenylketonuria [RCV003495401] |
Chr12:102852964..102852967 [GRCh38]
Chr12:103246742..103246745 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.888T>C (p.Asp296=) |
single nucleotide variant |
Phenylketonuria [RCV003496049] |
Chr12:102851711 [GRCh38]
Chr12:103245489 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.913-18A>G |
single nucleotide variant |
Phenylketonuria [RCV003598525] |
Chr12:102846969 [GRCh38]
Chr12:103240747 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.842+20T>G |
single nucleotide variant |
Phenylketonuria [RCV003880462] |
Chr12:102852795 [GRCh38]
Chr12:103246573 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.811C>A (p.His271Asn) |
single nucleotide variant |
Phenylketonuria [RCV003599095] |
Chr12:102852846 [GRCh38]
Chr12:103246624 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1066-14C>T |
single nucleotide variant |
Phenylketonuria [RCV003495465] |
Chr12:102843793 [GRCh38]
Chr12:103237571 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.901del (p.Gln301fs) |
deletion |
Phenylketonuria [RCV003495484] |
Chr12:102851698 [GRCh38]
Chr12:103245476 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.442-7C>T |
single nucleotide variant |
Phenylketonuria [RCV003598192] |
Chr12:102866670 [GRCh38]
Chr12:103260448 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.913-8A>C |
single nucleotide variant |
Phenylketonuria [RCV003599123] |
Chr12:102846959 [GRCh38]
Chr12:103240737 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1085C>T (p.Pro362Leu) |
single nucleotide variant |
Phenylketonuria [RCV003494677] |
Chr12:102843760 [GRCh38]
Chr12:103237538 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1152C>A (p.Pro384=) |
single nucleotide variant |
Phenylketonuria [RCV003496340] |
Chr12:102843693 [GRCh38]
Chr12:103237471 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1316-11T>C |
single nucleotide variant |
Phenylketonuria [RCV003598214] |
Chr12:102839229 [GRCh38]
Chr12:103233007 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1023G>A (p.Lys341=) |
single nucleotide variant |
Phenylketonuria [RCV003598586] |
Chr12:102844378 [GRCh38]
Chr12:103238156 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.61-15C>T |
single nucleotide variant |
Phenylketonuria [RCV003599344] |
Chr12:102912913 [GRCh38]
Chr12:103306691 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.250G>A (p.Asp84Asn) |
single nucleotide variant |
Phenylketonuria [RCV003599346] |
Chr12:102894837 [GRCh38]
Chr12:103288615 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.61-13T>C |
single nucleotide variant |
Phenylketonuria [RCV003496784] |
Chr12:102912911 [GRCh38]
Chr12:103306689 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.442-10T>C |
single nucleotide variant |
Phenylketonuria [RCV003597673] |
Chr12:102866673 [GRCh38]
Chr12:103260451 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.265C>A (p.Pro89Thr) |
single nucleotide variant |
Phenylketonuria [RCV003598634] |
Chr12:102894822 [GRCh38]
Chr12:103288600 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.776C>G (p.Ala259Gly) |
single nucleotide variant |
Phenylketonuria [RCV003494061] |
Chr12:102852881 [GRCh38]
Chr12:103246659 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.842+20T>C |
single nucleotide variant |
Phenylketonuria [RCV003496795] |
Chr12:102852795 [GRCh38]
Chr12:103246573 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.61-4G>A |
single nucleotide variant |
Phenylketonuria [RCV003599215] |
Chr12:102912902 [GRCh38]
Chr12:103306680 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.969+16C>T |
single nucleotide variant |
Phenylketonuria [RCV003497329] |
Chr12:102846879 [GRCh38]
Chr12:103240657 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.957_958insTT (p.Lys320fs) |
insertion |
Phenylketonuria [RCV003496691] |
Chr12:102846906..102846907 [GRCh38]
Chr12:103240684..103240685 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1065+20C>A |
single nucleotide variant |
Phenylketonuria [RCV003496838] |
Chr12:102844316 [GRCh38]
Chr12:103238094 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1095C>A (p.Leu365=) |
single nucleotide variant |
Phenylketonuria [RCV003497318] |
Chr12:102843750 [GRCh38]
Chr12:103237528 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1316-17G>A |
single nucleotide variant |
Phenylketonuria [RCV003496859] |
Chr12:102839235 [GRCh38]
Chr12:103233013 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1315+7A>C |
single nucleotide variant |
Phenylketonuria [RCV003497260] |
Chr12:102840393 [GRCh38]
Chr12:103234171 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.168+19T>G |
single nucleotide variant |
Phenylketonuria [RCV003837359] |
Chr12:102912772 [GRCh38]
Chr12:103306550 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1066-16C>T |
single nucleotide variant |
Phenylketonuria [RCV003496970] |
Chr12:102843795 [GRCh38]
Chr12:103237573 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.843-11C>G |
single nucleotide variant |
Phenylketonuria [RCV003497332] |
Chr12:102851767 [GRCh38]
Chr12:103245545 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.969+19T>C |
single nucleotide variant |
Phenylketonuria [RCV003497177] |
Chr12:102846876 [GRCh38]
Chr12:103240654 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.504C>T (p.Tyr168=) |
single nucleotide variant |
Phenylketonuria [RCV003861604] |
Chr12:102866601 [GRCh38]
Chr12:103260379 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.509+19T>C |
single nucleotide variant |
Phenylketonuria [RCV003845777] |
Chr12:102866577 [GRCh38]
Chr12:103260355 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.366A>G (p.Pro122=) |
single nucleotide variant |
Phenylketonuria [RCV003862737] |
Chr12:102877537 [GRCh38]
Chr12:103271315 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.510-20A>G |
single nucleotide variant |
Phenylketonuria [RCV003857525] |
Chr12:102855352 [GRCh38]
Chr12:103249130 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.168+13A>G |
single nucleotide variant |
Phenylketonuria [RCV003869302] |
Chr12:102912778 [GRCh38]
Chr12:103306556 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.912+20G>T |
single nucleotide variant |
Phenylketonuria [RCV003865895] |
Chr12:102851667 [GRCh38]
Chr12:103245445 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.509+17T>C |
single nucleotide variant |
Phenylketonuria [RCV003845690] |
Chr12:102866579 [GRCh38]
Chr12:103260357 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.441+10T>C |
single nucleotide variant |
Phenylketonuria [RCV003845284] |
Chr12:102877452 [GRCh38]
Chr12:103271230 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_004316.4(ASCL1):c.151CAG[21] (p.Gln62_Ala63insGlnGlnGlnGlnGlnGlnGlnGlnGln) |
microsatellite |
ASCL1-related disorder [RCV003934395] |
Chr12:102958393..102958394 [GRCh38]
Chr12:103352171..103352172 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1189G>T (p.Glu397Ter) |
single nucleotide variant |
Phenylketonuria [RCV003988462] |
Chr12:102843656 [GRCh38]
Chr12:103237434 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1347G>T (p.Gln449His) |
single nucleotide variant |
Inborn genetic diseases [RCV004499935] |
Chr12:102839187 [GRCh38]
Chr12:103232965 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1068C>T (p.Tyr356=) |
single nucleotide variant |
not specified [RCV004527212] |
Chr12:102843777 [GRCh38]
Chr12:103237555 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1199+4A>C |
single nucleotide variant |
not specified [RCV004527213] |
Chr12:102843642 [GRCh38]
Chr12:103237420 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.157C>G (p.Arg53Gly) |
single nucleotide variant |
not specified [RCV004586231] |
Chr12:102912802 [GRCh38]
Chr12:103306580 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.130G>T (p.Glu44Ter) |
single nucleotide variant |
Phenylketonuria [RCV004574421] |
Chr12:102912829 [GRCh38]
Chr12:103306607 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.964G>T (p.Ala322Ser) |
single nucleotide variant |
not specified [RCV004587854] |
Chr12:102846900 [GRCh38]
Chr12:103240678 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NC_000012.11:g.(?_103248894)_(103249131_?)del |
deletion |
Phenylketonuria [RCV004578361] |
Chr12:103248894..103249131 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NC_000012.11:g.(?_103288493)_(103310908_?)del |
deletion |
Phenylketonuria [RCV004578362] |
Chr12:103288493..103310908 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NC_000012.11:g.(?_103232953)_(103240749_?)del |
deletion |
Phenylketonuria [RCV004578363] |
Chr12:103232953..103240749 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.965C>T (p.Ala322Val) |
single nucleotide variant |
not specified [RCV004689520] |
Chr12:102846899 [GRCh38]
Chr12:103240677 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.500_504delinsGCTAT (p.Asn167Ser) |
indel |
not specified [RCV004586150] |
Chr12:102866601..102866605 [GRCh38]
Chr12:103260379..103260383 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1192A>G (p.Lys398Glu) |
single nucleotide variant |
not specified [RCV004586232] |
Chr12:102843653 [GRCh38]
Chr12:103237431 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.695A>T (p.Gln232Leu) |
single nucleotide variant |
not specified [RCV004586352] |
Chr12:102855147 [GRCh38]
Chr12:103248925 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NC_000012.11:g.(?_103306549)_(103306696_?)del |
deletion |
Phenylketonuria [RCV004578358] |
Chr12:103306549..103306696 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.922C>A (p.Leu308Ile) |
single nucleotide variant |
not specified [RCV004586300] |
Chr12:102846942 [GRCh38]
Chr12:103240720 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.745_755del (p.Leu249fs) |
deletion |
Phenylketonuria [RCV004574419] |
Chr12:102852902..102852912 [GRCh38]
Chr12:103246680..103246690 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NM_000277.3(PAH):c.1179_1180del (p.Asn393fs) |
deletion |
Phenylketonuria [RCV004574422] |
Chr12:102843665..102843666 [GRCh38]
Chr12:103237443..103237444 [GRCh37]
Chr12:12q23.2 |
likely pathogenic |
| NC_000012.11:g.(?_103232953)_(103352733_?)del |
deletion |
Phenylketonuria [RCV004578357] |
Chr12:103232953..103352733 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.790C>T (p.His264Tyr) |
single nucleotide variant |
not specified [RCV004702887] |
Chr12:102852867 [GRCh38]
Chr12:103246645 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.908C>T (p.Ser303Phe) |
single nucleotide variant |
not provided [RCV004760006] |
|
likely pathogenic |
| NM_000277.3(PAH):c.1303G>A (p.Asp435Asn) |
single nucleotide variant |
not specified [RCV004800771] |
Chr12:102840412 [GRCh38]
Chr12:103234190 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.1247del (p.Pro416fs) |
deletion |
Phenylketonuria [RCV004795748] |
Chr12:102840468 [GRCh38]
Chr12:103234246 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_004316.4(ASCL1):c.151CAG[19] (p.Gln62_Ala63insGlnGlnGlnGlnGlnGlnGln) |
microsatellite |
ASCL1-related disorder [RCV004758436] |
Chr12:102958393..102958394 [GRCh38]
Chr12:103352171..103352172 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_004316.4(ASCL1):c.108_128del (p.Ala41_Ala47del) |
deletion |
ASCL1-related disorder [RCV004758446] |
Chr12:102958347..102958367 [GRCh38]
Chr12:103352125..103352145 [GRCh37]
Chr12:12q23.2 |
likely benign |
| NM_000277.3(PAH):c.1108G>C (p.Glu370Gln) |
single nucleotide variant |
not specified [RCV004800070] |
Chr12:102843737 [GRCh38]
Chr12:103237515 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.126A>C (p.Lys42Asn) |
single nucleotide variant |
not specified [RCV004766932] |
Chr12:102912833 [GRCh38]
Chr12:103306611 [GRCh37]
Chr12:12q23.2 |
uncertain significance |
| NM_000277.3(PAH):c.694_696delinsTAA (p.Gln232Ter) |
indel |
Phenylketonuria [RCV004797182] |
Chr12:102855146..102855148 [GRCh38]
Chr12:103248924..103248926 [GRCh37]
Chr12:12q23.2 |
pathogenic |
| NM_000277.3(PAH):c.1153dup (p.Leu385fs) |
duplication |
Phenylketonuria [RCV004789832] |
Chr12:102843691..102843692 [GRCh38]
Chr12:103237469..103237470 [GRCh37]
Chr12:12q23.2 |
pathogenic |
