Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000277.3(PAH):c.1315+1G>A	SNV Germline	Chr12:102840399	Pathogenic	Phenylketonuria Condition: not provided Inborn genetic diseases PAH-related disorder	Reviewed By Expert Panel	CA251522	rs_5030861	31 SubmittersRCV000000606 RCV000078510 RCV000622610 RCV003407249
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	SNV Germline	Chr12:102840493	Pathogenic	Phenylketonuria Condition: not provided Inborn genetic diseases See cases PAH-related disorder	Reviewed By Expert Panel	CA251523	rs_5030858	37 SubmittersRCV000000607 RCV000078507 RCV002512607 RCV004584303 RCV003415607
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)	SNV Germline	Chr12:102846932	Pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA251524	rs_62642936	9 SubmittersRCV000000608 RCV000089164
NM_000277.3(PAH):c.977G>A (p.Trp326Ter)	SNV Germline	Chr12:102844424	Pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA229887	rs_62514959	6 SubmittersRCV000000609 RCV000089188
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)	SNV Germline	Chr12:102852819	Pathogenic	Phenylketonuria Condition: not provided Inborn genetic diseases Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	Criteria Provided Multiple Submitters No Conflicts	CA251525	rs_62508698	18 SubmittersRCV000000610 RCV000078532 RCV002512608 RCV003162201
NM_000277.3(PAH):c.331C>T (p.Arg111Ter)	SNV Germline	Chr12:102894756	Pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA251526	rs_76296470	13 SubmittersRCV000000611 RCV000088898
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	SNV Germline	Chr12:102852875	Pathogenic	Phenylketonuria Condition: not provided PAH-related disorder	Reviewed By Expert Panel	CA251528	rs_5030849	30 SubmittersRCV000000612 RCV000078530 RCV003904790
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)	SNV Germline	Chr12:102894826	Pathogenic/Likely pathogenic	Hyperphenylalaninemia Condition: not provided Phenylketonuria Inborn genetic diseases PAH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114359	rs_62516151	12 SubmittersRCV000000613 RCV000088884 RCV000763293 RCV002512609 RCV003934787
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)	SNV Germline	Chr12:102852903	Pathogenic	Phenylketonuria Condition: not provided Pulmonary hypertension, primary, 1 See cases	Reviewed By Expert Panel	CA251529	rs_5030847	17 SubmittersRCV000000614 RCV000089079 RCV003984797 RCV002251844
NM_000277.3(PAH):c.1A>G (p.Met1Val)	SNV Germline	Chr12:102917130	Pathogenic	Phenylketonuria Hyperphenylalaninemia Condition: not provided	Reviewed By Expert Panel	CA114360	rs_62514891	9 SubmittersRCV000000616 RCV000000617 RCV000088868
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)	SNV Germline	Chr12:102866632	Pathogenic	Phenylketonuria Condition: not provided PAH-related disorder	Reviewed By Expert Panel	CA251530	rs_5030843	22 SubmittersRCV000000618 RCV000078522 RCV003415608
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)	SNV Germline	Chr12:102852930	Pathogenic	Phenylketonuria Condition: not provided Inborn genetic diseases PAH-related disorder	Reviewed By Expert Panel	CA220585	rs_5030846	18 SubmittersRCV000000619 RCV000078528 RCV002512610 RCV003407250
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	SNV Germline	Chr12:102852815	Likely pathogenic	Phenylketonuria Condition: not provided Inborn genetic diseases PAH-related disorder	Reviewed By Expert Panel	CA220589	rs_5030851	26 SubmittersRCV000000620 RCV000078534 RCV001265833 RCV003914790
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)	SNV Germline	Chr12:102855231	Pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA229653	rs_62514927	10 SubmittersRCV000000621 RCV000089007
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	SNV Germline	Chr12:102852929	Pathogenic/Likely pathogenic	Phenylketonuria Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA251531	rs_62508588	18 SubmittersRCV000000622 RCV000089059 RCV000624337
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)	SNV Germline	Chr12:102840477	Pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA229414	rs_79931499	10 SubmittersRCV000000623 RCV000088813
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)	SNV Germline	Chr12:102840474	Pathogenic	Hyperphenylalaninemia Condition: not provided Phenylketonuria See cases PAH-related disorder	Reviewed By Expert Panel	CA114362	rs_5030860	29 SubmittersRCV000000624 RCV000078508 RCV000150074 RCV004584304 RCV003398401
NM_000277.3(PAH):c.442-1G>A	SNV Germline	Chr12:102866664	Pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA229550	rs_62514907	9 SubmittersRCV000000625 RCV000088924
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)	SNV Germline	Chr12:102843777	Pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA229327	rs_62516095	9 SubmittersRCV000000626 RCV000088745
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)	SNV Germline	Chr12:102852843	Pathogenic	Phenylketonuria Condition: not provided PAH-related disorder	Reviewed By Expert Panel	CA251532	rs_62514952	18 SubmittersRCV000000627 RCV000089110 RCV003914791
NM_000277.3(PAH):c.818C>T (p.Ser273Phe)	SNV Germline	Chr12:102852839	Likely pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA229785	rs_62514953	6 SubmittersRCV000000629 RCV000089111
NM_000277.3(PAH):c.842+1G>A	SNV Germline	Chr12:102852814	Pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA229811	rs_5030852	16 SubmittersRCV000000630 RCV000089129
NM_000277.3(PAH):c.764T>C (p.Leu255Ser)	SNV Germline	Chr12:102852893	Pathogenic/Likely pathogenic	Phenylketonuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA229747	rs_62642930	4 SubmittersRCV000000631 RCV000089083
NM_000277.3(PAH):c.1197A>T (p.Val399=)	SNV Germline	Chr12:102843648	Pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA229379	rs_199475584	11 SubmittersRCV000000632 RCV000088786
NM_000277.3(PAH):c.776C>T (p.Ala259Val)	SNV Germline	Chr12:102852881	Pathogenic/Likely pathogenic	Phenylketonuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA229756	rs_118203921	6 SubmittersRCV000000633 RCV000089089
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)	SNV Germline	Chr12:102852828	Pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA251534	rs_78655458	13 SubmittersRCV000000634 RCV000078531
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)	SNV Germline	Chr12:102912842	Pathogenic	Phenylketonuria Condition: not provided PAH-related disorder Inborn genetic diseases	Reviewed By Expert Panel	CA251537	rs_62642926	20 SubmittersRCV000000636 RCV000078504 RCV003904791 RCV004018527
NM_000277.3(PAH):c.1066-11G>A	SNV Germline	Chr12:102843790	Pathogenic	Phenylketonuria Condition: not provided Inborn genetic diseases	Reviewed By Expert Panel	CA251538	rs_5030855	29 SubmittersRCV000000638 RCV000078500 RCV002512611
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)	SNV Germline	Chr12:102912816	Pathogenic	Phenylketonuria Condition: not provided Inborn genetic diseases PAH-related disorder	Reviewed By Expert Panel	CA251539	rs_5030841	21 SubmittersRCV000000639 RCV000078511 RCV002512612 RCV003421890
NM_000277.3(PAH):c.662A>G (p.Glu221Gly)	SNV Germline	Chr12:102855180	Likely pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA229677	rs_62514934	4 SubmittersRCV000000640 RCV000089024
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)	SNV Germline	Chr12:102852876	Pathogenic	Phenylketonuria Condition: not provided Pulmonary hypertension, primary, 1	Reviewed By Expert Panel	CA229757	rs_5030850	18 SubmittersRCV000000641 RCV000089090 RCV003984798
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)	SNV Germline	Chr12:102840492	Pathogenic	Phenylketonuria Condition: not provided PAH-related disorder	Reviewed By Expert Panel	CA229404	rs_5030859	16 SubmittersRCV000000643 RCV000088806 RCV003934788
NM_000277.3(PAH):c.896T>G (p.Phe299Cys)	SNV Germline	Chr12:102851703	Pathogenic	Phenylketonuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251541	rs_62642933	14 SubmittersRCV000000644 RCV000089148
NM_000277.3(PAH):c.842+2T>A	SNV Germline	Chr12:102852813	Pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA229813	rs_62514955	5 SubmittersRCV000000645 RCV000089131
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)	SNV Germline	Chr12:102844356	Pathogenic/Likely pathogenic	Phenylketonuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251542	rs_62508646	12 SubmittersRCV000000646 RCV000078499
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)	SNV Germline	Chr12:102846899	Likely pathogenic	Mild non-PKU hyperphenylalanemia Condition: not provided Phenylketonuria See cases	Reviewed By Expert Panel	CA114363	rs_62514958	8 SubmittersRCV000000647 RCV000089177 RCV000675108 RCV002251845
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)	SNV Germline	Chr12:102840472	Pathogenic	Hyperphenylalaninemia Phenylketonuria Condition: not provided PAH-related disorder	Reviewed By Expert Panel	CA114364	rs_62644499	17 SubmittersRCV000000648 RCV000401074 RCV000088815 RCV003415609
NM_000277.3(PAH):c.916A>G (p.Ile306Val)	SNV Germline	Chr12:102846948	Pathogenic	Hyperphenylalaninemia Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA114365	rs_62642934	10 SubmittersRCV000000649 RCV000089157 RCV000169485
NM_000277.3(PAH):c.1162G>A (p.Val388Met)	SNV Germline	Chr12:102843683	Pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA251543	rs_62516101	13 SubmittersRCV000000650 RCV000088774
NM_000277.3(PAH):c.731C>T (p.Pro244Leu)	SNV Germline	Chr12:102852926	Likely pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA229721	rs_118203923	3 SubmittersRCV000000652 RCV000089061
NM_000277.3(PAH):c.3G>A (p.Met1Ile)	SNV Germline	Chr12:102917128	Pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA229532	rs_62514893	4 SubmittersRCV000000653 RCV000088911
NM_000277.3(PAH):c.1066-3C>T	SNV Germline	Chr12:102843782	Pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA229324	rs_62507344	12 SubmittersRCV000000654 RCV000088742
NM_000277.3(PAH):c.997C>T (p.Leu333Phe)	SNV Germline	Chr12:102844404	Pathogenic	Hyperphenylalaninemia Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA114366	rs_62516060	6 SubmittersRCV000000655 RCV000089195 RCV002259565
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)	SNV Germline	Chr12:102843676	Pathogenic	Phenylketonuria Hyperphenylalaninemia Condition: not provided PAH-related disorder Mild hyperphenylalaninemia	Reviewed By Expert Panel	CA114367	rs_5030856	20 SubmittersRCV000000657 RCV000000656 RCV000078503 RCV003914792 RCV003993726
NM_000277.3(PAH):c.1076C>G (p.Ser359Ter)	SNV Germline	Chr12:102843769	Pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA229330	rs_5030854	4 SubmittersRCV000000658 RCV000088747
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)	SNV Germline	Chr12:102894794	Likely pathogenic	Mild non-PKU hyperphenylalanemia Condition: not provided Phenylketonuria not specified PAH-related disorder	Reviewed By Expert Panel	CA114368	rs_62517167	10 SubmittersRCV000000659 RCV000088892 RCV000675074 RCV003323344 RCV003914793
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	SNV Germline	Chr12:102843706	Pathogenic	Hyperphenylalaninemia Condition: not provided Phenylketonuria Marfanoid habitus and intellectual disability 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Inborn genetic diseases PAH-related disorder	Reviewed By Expert Panel	CA114369	rs_62642937	32 SubmittersRCV000000660 RCV000078502 RCV000150077 RCV000850463 RCV001280537 RCV003258654 RCV003390629
NM_000277.3(PAH):c.136G>A (p.Gly46Ser)	SNV Germline	Chr12:102912823	Pathogenic	Phenylketonuria Condition: not provided Inborn genetic diseases	Reviewed By Expert Panel	CA229439	rs_74603784	9 SubmittersRCV000000661 RCV000088836 RCV002512613
NM_000277.3(PAH):c.140C>T (p.Ala47Val)	SNV Germline	Chr12:102912819	Likely pathogenic	Hyperphenylalaninemia Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA114370	rs_118203925	6 SubmittersRCV000000662 RCV000088839 RCV001200011
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)	SNV Germline	Chr12:102855315	Pathogenic	Hyperphenylalaninemia Condition: not provided Phenylketonuria 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Inborn genetic diseases See cases	Reviewed By Expert Panel	CA114371	rs_74486803	15 SubmittersRCV000000663 RCV000088974 RCV000346024 RCV001280536 RCV002512614 RCV002251846
NM_000277.3(PAH):c.734T>C (p.Val245Ala)	SNV Germline	Chr12:102852923	Pathogenic	Hyperphenylalaninemia Condition: not provided Phenylketonuria Inborn genetic diseases	Reviewed By Expert Panel	CA114372	rs_76212747	21 SubmittersRCV000000664 RCV000089065 RCV000346938 RCV002512615
NM_000277.3(PAH):c.1065+3A>G	SNV Germline	Chr12:102844333	Likely pathogenic	Hyperphenylalaninemia Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA212751	rs_62508689	5 SubmittersRCV000000665 RCV000088736 RCV000758111
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu)	SNV Germline	Chr12:102840495	Likely pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA229402	rs_62644473	4 SubmittersRCV000000667 RCV000088804
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	SNV Germline	Chr12:102894893	Pathogenic	Phenylketonuria Condition: not provided See cases PAH-related disorder Inborn genetic diseases	Reviewed By Expert Panel	CA251544	rs_75193786	27 SubmittersRCV000000668 RCV000078516 RCV002251847 RCV003398402 RCV004018528
NM_000277.3(PAH):c.227A>G (p.Glu76Gly)	SNV Germline	Chr12:102894860	Pathogenic/Likely pathogenic	Hyperphenylalaninemia Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA114373	rs_62507347	5 SubmittersRCV000000671 RCV000088878 RCV000672628
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)	SNV Germline	Chr12:102844359	Pathogenic	Condition: not provided Phenylketonuria See cases Inborn genetic diseases PAH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220576	rs_62516092	18 SubmittersRCV000078498 RCV000150080 RCV002251963 RCV002514381 RCV003944994
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)	SNV Germline	Chr12:102843777	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA273107	rs_62516095	10 SubmittersRCV000078501 RCV000150078
NM_000277.3(PAH):c.1200-1G>A	SNV Germline	Chr12:102840516	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA220577	rs_62507322	6 SubmittersRCV000078505 RCV001201306
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	SNV Germline	Chr12:102840507	Pathogenic	Condition: not provided Phenylketonuria Inborn genetic diseases PAH-related disorder	Reviewed By Expert Panel	CA273106	rs_5030857	38 SubmittersRCV000078506 RCV000150075 RCV000622360 RCV003915048
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	SNV Germline	Chr12:102912794	Pathogenic/Likely pathogenic	Phenylketonuria Condition: not provided See cases Hyperphenylalaninemia	Criteria Provided Multiple Submitters No Conflicts	CA273114	rs_199475598	15 SubmittersRCV000150092 RCV000078512 RCV002251964 RCV000588067
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)	SNV Germline	Chr12:102894883	Pathogenic	Condition: not provided Phenylketonuria PAH-related disorder	Reviewed By Expert Panel	CA273113	rs_76394784	12 SubmittersRCV000078517 RCV000150091 RCV003398669
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)	SNV Germline	Chr12:102877548	Likely pathogenic	Phenylketonuria Condition: not provided Inborn genetic diseases	Reviewed By Expert Panel	CA220582	rs_398123292	12 SubmittersRCV000178066 RCV000790751 RCV004019527
NM_000277.3(PAH):c.441+5G>T	SNV Germline	Chr12:102877457	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA273112	rs_62507321	15 SubmittersRCV000078521 RCV000150089
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)	SNV Germline	Chr12:102866605	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA220584	rs_77554925	9 SubmittersRCV000078523 RCV000412232
NM_000277.3(PAH):c.508C>G (p.His170Asp)	SNV Germline	Chr12:102866597	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA273111	rs_199475655	7 SubmittersRCV000078524 RCV000150088
NM_000277.3(PAH):c.533A>G (p.Glu178Gly)	SNV Germline	Chr12:102855309	Pathogenic	Condition: not provided Phenylketonuria Inborn genetic diseases	Reviewed By Expert Panel	CA273110	rs_77958223	15 SubmittersRCV000078526 RCV000150087 RCV004019528
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)	SNV Germline	Chr12:102855204	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA273109	rs_62516109	11 SubmittersRCV000078527 RCV000150086
NM_000277.3(PAH):c.841C>T (p.Pro281Ser)	SNV Germline	Chr12:102852816	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA220587	rs_199475654	3 SubmittersRCV000078533 RCV000721177
NM_000277.3(PAH):c.890G>A (p.Arg297His)	SNV Germline	Chr12:102851709	Pathogenic	Condition: not provided Phenylketonuria Hyperphenylalaninemia	Reviewed By Expert Panel	CA220590	rs_62642939	11 SubmittersRCV000078535 RCV000150085 RCV000588535
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)	SNV Germline	Chr12:102851701	Pathogenic	Condition: not provided Phenylketonuria Hyperphenylalaninemia Inborn genetic diseases	Reviewed By Expert Panel	CA273108	rs_5030853	31 SubmittersRCV000078536 RCV000150084 RCV000590551 RCV001267463
NM_000277.3(PAH):c.912+1G>A	SNV Germline	Chr12:102851686	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA220591	rs_62514956	9 SubmittersRCV000078537 RCV000150083
NM_000277.3(PAH):c.926C>T (p.Ala309Val)	SNV Germline	Chr12:102846938	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA220592	rs_62642935	9 SubmittersRCV000078538 RCV000150082
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)	SNV Germline	Chr12:102844427	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA220593	rs_62508578	6 SubmittersRCV000078541 RCV000150081
NM_000277.3(PAH):c.1006C>T (p.Gln336Ter)	SNV Germline	Chr12:102844395	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229264	rs_62516061	2 SubmittersRCV000088696 RCV002259580
NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr)	SNV Germline	Chr12:102844389	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229269	rs_62516150	6 SubmittersRCV000088699 RCV000794431
NM_000277.3(PAH):c.1021A>T (p.Lys341Ter)	SNV Germline	Chr12:102844380	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229272	rs_62517200	2 SubmittersRCV000088701 RCV002259581
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr)	SNV Germline	Chr12:102844377	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229276	rs_62507282	3 SubmittersRCV000088704 RCV001386152
NM_000277.3(PAH):c.1024G>C (p.Ala342Pro)	SNV Germline	Chr12:102844377	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229277	rs_62507282	3 SubmittersRCV000088705 RCV003330433
NM_000277.3(PAH):c.1027T>G (p.Tyr343Asp)	SNV Germline	Chr12:102844374	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229280	rs_62508651	2 SubmittersRCV000088707 RCV001200017
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys)	SNV Germline	Chr12:102844373	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229282	rs_62507265	5 SubmittersRCV000088708 RCV001194126
NM_000277.3(PAH):c.1030G>A (p.Gly344Ser)	SNV Germline	Chr12:102844371	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229285	rs_62508679	3 SubmittersRCV000088710 RCV001379649
NM_000277.3(PAH):c.1031G>A (p.Gly344Asp)	SNV Germline	Chr12:102844370	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229288	rs_62508582	3 SubmittersRCV000088712 RCV001543654
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)	SNV Germline	Chr12:102844368	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229291	rs_62516062	5 SubmittersRCV000088714 RCV000490440
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)	SNV Germline	Chr12:102844368	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA286497	rs_62516062	11 SubmittersRCV000088715 RCV000586982
NM_000277.3(PAH):c.1045T>G (p.Ser349Ala)	SNV Germline	Chr12:102844356	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229298	rs_62508646	3 SubmittersRCV000088721 RCV001386151
NM_000277.3(PAH):c.1046C>A (p.Ser349Ter)	SNV Germline	Chr12:102844355	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229300	rs_62507279	2 SubmittersRCV000088722 RCV001200004
NM_000277.3(PAH):c.1046C>T (p.Ser349Leu)	SNV Germline	Chr12:102844355	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229302	rs_62507279	2 SubmittersRCV000088723 RCV001040702
NM_000277.3(PAH):c.1048T>A (p.Ser350Thr)	SNV Germline	Chr12:102844353	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229304	rs_62517183	2 SubmittersRCV000088725 RCV001543633
NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr)	SNV Germline	Chr12:102844352	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229305	rs_62508628	3 SubmittersRCV000088726 RCV002498473
NM_000277.3(PAH):c.1054G>C (p.Gly352Arg)	SNV Germline	Chr12:102844347	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229307	rs_62508686	2 SubmittersRCV000088727 RCV001543661
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys)	SNV Germline	Chr12:102844347	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229309	rs_62508686	4 SubmittersRCV000088728 RCV002514541
NM_000277.3(PAH):c.1063C>T (p.Gln355Ter)	SNV Germline	Chr12:102844338	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229313	rs_199475633	3 SubmittersRCV000088731 RCV001234044
NM_000277.3(PAH):c.1065+1G>A	SNV Germline	Chr12:102844335	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229315	rs_62516147	4 SubmittersRCV000088732 RCV000411856
NM_000277.3(PAH):c.1066-14C>G	SNV Germline	Chr12:102843793	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229321	rs_62507334	5 SubmittersRCV000088739 RCV001375895
NM_000277.3(PAH):c.1066-1G>A	SNV Germline	Chr12:102843780	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229322	rs_62508684	3 SubmittersRCV000088740 RCV001199985
NM_000277.3(PAH):c.1069T>G (p.Cys357Gly)	SNV Germline	Chr12:102843776	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229329	rs_62508595	2 SubmittersRCV000088746 RCV001199978
NM_000277.3(PAH):c.1084C>A (p.Pro362Thr)	SNV Germline	Chr12:102843761	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229332	rs_62507329	3 SubmittersRCV000088748 RCV002514542
NM_000277.3(PAH):c.1097C>A (p.Pro366His)	SNV Germline	Chr12:102843748	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229341	rs_62516098	6 SubmittersRCV000088754 RCV000672118
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)	SNV Germline	Chr12:102843731	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229350	rs_62517163	6 SubmittersRCV000088761 RCV000306209
NM_000277.3(PAH):c.1117G>A (p.Ala373Thr)	SNV Germline	Chr12:102843728	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229351	rs_62508717	3 SubmittersRCV000088762 RCV002259583
NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys)	SNV Germline	Chr12:102843715	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229357	rs_62642942	3 SubmittersRCV000088767 RCV002259584
NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp)	SNV Germline	Chr12:102843689	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229361	rs_199475691	3 SubmittersRCV000088770 RCV001239036
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)	SNV Germline	Chr12:102843688	Pathogenic	Condition: not provided Phenylketonuria Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	Reviewed By Expert Panel	CA274152	rs_62516141	9 SubmittersRCV000088771 RCV000169306 RCV003162523
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)	SNV Germline	Chr12:102843686	Likely pathogenic	Condition: not provided Phenylketonuria Malignant tumor of breast	Reviewed By Expert Panel	CA229363	rs_62517194	5 SubmittersRCV000088772 RCV001789754 RCV004542806
NM_000277.3(PAH):c.1162G>C (p.Val388Leu)	SNV Germline	Chr12:102843683	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229366	rs_62516101	3 SubmittersRCV000088775 RCV001269277
NM_000277.3(PAH):c.1180G>C (p.Asp394His)	SNV Germline	Chr12:102843665	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229371	rs_62516142	6 SubmittersRCV000088779 RCV000714571
NM_000277.3(PAH):c.1181A>C (p.Asp394Ala)	SNV Germline	Chr12:102843664	Likely pathogenic	Condition: not provided Phenylketonuria not specified	Reviewed By Expert Panel	CA229372	rs_62516102	4 SubmittersRCV000088780 RCV001789755 RCV003323399
NM_000277.3(PAH):c.1183G>C (p.Ala395Pro)	SNV Germline	Chr12:102843662	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229373	rs_62516103	5 SubmittersRCV000088781 RCV000781679
NM_000277.3(PAH):c.1184C>A (p.Ala395Asp)	SNV Germline	Chr12:102843661	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229374	rs_62508736	2 SubmittersRCV000088782 RCV002509213
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)	SNV Germline	Chr12:102843661	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA286498	rs_62508736	9 SubmittersRCV000088783 RCV000410586
NM_000277.3(PAH):c.1194A>G (p.Lys398=)	SNV Germline	Chr12:102843651	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229376	rs_199475638	4 SubmittersRCV000088784 RCV001269042
NM_000277.3(PAH):c.1198A>C (p.Arg400=)	SNV Germline	Chr12:102843647	Conflicting classifications of pathogenicity	Condition: not provided Phenylketonuria not specified	Criteria Provided Conflicting Classifications	CA229381	rs_199475593	5 SubmittersRCV000088787 RCV000671619 RCV003479000
NM_000277.3(PAH):c.1199+17G>A	SNV Germline	Chr12:102843629	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229384	rs_62508613	8 SubmittersRCV000088789 RCV000316500
NM_000277.3(PAH):c.1199+1G>A	SNV Germline	Chr12:102843645	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229385	rs_62509015	6 SubmittersRCV000088790 RCV000632882
NM_000277.3(PAH):c.1199+1G>C	SNV Germline	Chr12:102843645	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA274088	rs_62509015	11 SubmittersRCV000088791 RCV000169248
NM_000277.3(PAH):c.1199+20G>C	SNV Germline	Chr12:102843626	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229386	rs_62509018	2 SubmittersRCV000088792 RCV002513932
NM_000277.3(PAH):c.1199+5G>T	SNV Germline	Chr12:102843641	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229388	rs_62508674	2 SubmittersRCV000088794 RCV001269037
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys)	SNV Germline	Chr12:102843646	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229389	rs_199475658	3 SubmittersRCV000088795 RCV000672156
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr)	SNV Germline	Chr12:102843646	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229391	rs_199475658	4 SubmittersRCV000088796 RCV001543634
NM_000277.3(PAH):c.1200-8G>A	SNV Germline	Chr12:102840523	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229395	rs_62507261	5 SubmittersRCV000088799 RCV000525956
NM_000277.3(PAH):c.1217T>C (p.Ile406Thr)	SNV Germline	Chr12:102840498	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229398	rs_62644469	2 SubmittersRCV000088801 RCV000758128
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser)	SNV Germline	Chr12:102840496	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229400	rs_62644465	3 SubmittersRCV000088802 RCV000672236
NM_000277.3(PAH):c.121C>T (p.Leu41Phe)	SNV Germline	Chr12:102912838	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229401	rs_62642928	3 SubmittersRCV000088803 RCV000697659
NM_000277.3(PAH):c.1229T>G (p.Phe410Cys)	SNV Germline	Chr12:102840486	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229406	rs_62644475	3 SubmittersRCV000088808 RCV001269318
NM_000277.3(PAH):c.1232C>A (p.Ser411Ter)	SNV Germline	Chr12:102840483	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229409	rs_62644477	2 SubmittersRCV000088810 RCV002509216
NM_000277.3(PAH):c.1237C>A (p.Arg413Ser)	SNV Germline	Chr12:102840478	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229411	rs_62644467	3 SubmittersRCV000088811 RCV001380994
NM_000277.3(PAH):c.1252A>C (p.Thr418Pro)	SNV Germline	Chr12:102840463	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229418	rs_62644501	5 SubmittersRCV000088818 RCV000672448
NM_000277.3(PAH):c.125A>T (p.Lys42Ile)	SNV Germline	Chr12:102912834	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229419	rs_62635346	2 SubmittersRCV000088819 RCV000993605
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr)	SNV Germline	Chr12:102840453	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229420	rs_199475696	4 SubmittersRCV000088820 RCV001388783
NM_000277.3(PAH):c.1289T>C (p.Leu430Pro)	SNV Germline	Chr12:102840426	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229426	rs_199475607	2 SubmittersRCV000088824 RCV001789756
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)	SNV Germline	Chr12:102840414	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229427	rs_199475659	6 SubmittersRCV000088825 RCV000169393
NM_000277.3(PAH):c.1315+2T>C	SNV Germline	Chr12:102840398	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229429	rs_1799970	7 SubmittersRCV000088827 RCV000169029
NM_000277.3(PAH):c.1315+4A>G	SNV Germline	Chr12:102840396	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229430	rs_62508649	5 SubmittersRCV000088828 RCV000672561
NM_000277.3(PAH):c.1315+6T>A	SNV Germline	Chr12:102840394	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229431	rs_62508650	6 SubmittersRCV000088829 RCV000668481
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp)	SNV Germline	Chr12:102839194	Pathogenic	Condition: not provided Phenylketonuria PAH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA229437	rs_76542238	8 SubmittersRCV000088834 RCV000632880 RCV003407485
NM_000277.3(PAH):c.155T>C (p.Leu52Ser)	SNV Germline	Chr12:102912804	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229443	rs_199475630	4 SubmittersRCV000088840 RCV001389300
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)	SNV Germline	Chr12:102912802	Likely pathogenic	Condition: not provided Phenylketonuria not specified	Reviewed By Expert Panel	CA229445	rs_199475619	6 SubmittersRCV000088841 RCV000664566 RCV002281929
NM_000277.3(PAH):c.161T>C (p.Leu54Ser)	SNV Germline	Chr12:102912798	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229448	rs_199475677	3 SubmittersRCV000088843 RCV000669099
NM_000277.3(PAH):c.168+1G>A	SNV Germline	Chr12:102912790	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229452	rs_62514898	6 SubmittersRCV000088846 RCV000169163
NM_000277.3(PAH):c.168+5G>A	SNV Germline	Chr12:102912786	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229453	rs_62507288	5 SubmittersRCV000088847 RCV000666582
NM_000277.3(PAH):c.168+5G>C	SNV Germline	Chr12:102912786	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229454	rs_62507288	12 SubmittersRCV000088848 RCV000350592
NM_000277.3(PAH):c.168G>T (p.Glu56Asp)	SNV Germline	Chr12:102912791	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229459	rs_199475567	3 SubmittersRCV000088852 RCV001543635
NM_000277.3(PAH):c.169-13T>G	SNV Germline	Chr12:102894931	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229460	rs_62507341	6 SubmittersRCV000088853 RCV000778351
NM_000277.3(PAH):c.181A>G (p.Asn61Asp)	SNV Germline	Chr12:102894906	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229470	rs_199475651	2 SubmittersRCV000088859 RCV001389299
NM_000277.3(PAH):c.183C>G (p.Asn61Lys)	SNV Germline	Chr12:102894904	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229471	rs_199475634	3 SubmittersRCV000088860 RCV001199974
NM_000277.3(PAH):c.193A>G (p.Ile65Val)	SNV Germline	Chr12:102894894	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229478	rs_199475643	5 SubmittersRCV000088864 RCV000803656
NM_000277.3(PAH):c.194T>A (p.Ile65Asn)	SNV Germline	Chr12:102894893	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229479	rs_75193786	2 SubmittersRCV000088865 RCV000758100
NM_000277.3(PAH):c.199T>C (p.Ser67Pro)	SNV Germline	Chr12:102894888	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229481	rs_5030842	5 SubmittersRCV000088867 RCV001260324
NM_000277.3(PAH):c.1A>T (p.Met1Leu)	SNV Germline	Chr12:102917130	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229482	rs_62514891	3 SubmittersRCV000088869 RCV000993611
NM_000277.3(PAH):c.202A>G (p.Arg68Gly)	SNV Germline	Chr12:102894885	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229484	rs_199475639	2 SubmittersRCV000088870 RCV001543636
NM_000277.3(PAH):c.205C>T (p.Pro69Ser)	SNV Germline	Chr12:102894882	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229486	rs_199475678	3 SubmittersRCV000088871 RCV003315609
NM_000277.3(PAH):c.208T>C (p.Ser70Pro)	SNV Germline	Chr12:102894879	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229488	rs_63048261	2 SubmittersRCV000088874 RCV002259586
NM_000277.3(PAH):c.212G>A (p.Arg71His)	SNV Germline	Chr12:102894875	Likely pathogenic	Condition: not provided Phenylketonuria Familial multiple polyposis syndrome PAH-related disorder	Reviewed By Expert Panel	CA286499	rs_62508695	10 SubmittersRCV000088876 RCV000672919 RCV004525871 RCV003407486
NM_000277.3(PAH):c.227A>C (p.Glu76Ala)	SNV Germline	Chr12:102894860	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229492	rs_62507347	2 SubmittersRCV000088877 RCV001389298
NM_000277.3(PAH):c.231T>G (p.Tyr77Ter)	SNV Germline	Chr12:102894856	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229493	rs_62507332	2 SubmittersRCV000088879 RCV003479001
NM_000277.3(PAH):c.232G>A (p.Glu78Lys)	SNV Germline	Chr12:102894855	Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229495	rs_62507326	2 SubmittersRCV000088880 RCV001857429
NM_000277.3(PAH):c.241A>C (p.Thr81Pro)	SNV Germline	Chr12:102894846	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229497	rs_62509017	5 SubmittersRCV000088881 RCV001192889
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr)	SNV Germline	Chr12:102894837	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229500	rs_62514902	7 SubmittersRCV000088883 RCV000761308
NM_000277.3(PAH):c.265C>T (p.Pro89Ser)	SNV Germline	Chr12:102894822	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229501	rs_62507270	2 SubmittersRCV000088886 RCV001857430
NM_000277.3(PAH):c.275C>T (p.Thr92Ile)	SNV Germline	Chr12:102894812	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229504	rs_62514903	3 SubmittersRCV000088888 RCV001854512
NM_000277.3(PAH):c.281T>G (p.Ile94Ser)	SNV Germline	Chr12:102894806	Conflicting classifications of pathogenicity	Condition: not provided Phenylketonuria	Criteria Provided Conflicting Classifications	CA229505	rs_62508677	3 SubmittersRCV000088889 RCV000673537
NM_000277.3(PAH):c.283A>T (p.Ile95Phe)	SNV Germline	Chr12:102894804	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229507	rs_62508682	6 SubmittersRCV000088890 RCV000763292
NM_000277.3(PAH):c.2T>G (p.Met1Arg)	SNV Germline	Chr12:102917129	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229509	rs_62508575	2 SubmittersRCV000088893 RCV000993612
NM_000277.3(PAH):c.305T>C (p.Ile102Thr)	SNV Germline	Chr12:102894782	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229511	rs_62508591	3 SubmittersRCV000088894 RCV001580454
NM_000277.3(PAH):c.30C>G (p.Gly10=)	SNV Germline	Chr12:102917101	Conflicting classifications of pathogenicity	Condition: not provided Phenylketonuria not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA229513	rs_1801145	11 SubmittersRCV000088895 RCV000779088 RCV001844038 RCV002321585
NM_000277.3(PAH):c.311C>A (p.Ala104Asp)	SNV Germline	Chr12:102894776	Pathogenic	Condition: not provided Phenylketonuria PAH-related disorder	Reviewed By Expert Panel	CA229515	rs_62642929	15 SubmittersRCV000088896 RCV000349567 RCV003915115
NM_000277.3(PAH):c.329C>T (p.Ser110Leu)	SNV Germline	Chr12:102894758	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229516	rs_199475627	2 SubmittersRCV000088897 RCV002259587
NM_000277.3(PAH):c.352+1G>A	SNV Germline	Chr12:102894734	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229519	rs_199475684	4 SubmittersRCV000088900 RCV002509218
NM_000277.3(PAH):c.353-6T>A	SNV Germline	Chr12:102877556	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229521	rs_62517195	2 SubmittersRCV000088902 RCV001269055
NM_000277.3(PAH):c.359G>A (p.Trp120Ter)	SNV Germline	Chr12:102877544	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229522	rs_199475586	2 SubmittersRCV000088903 RCV001199994
NM_000277.3(PAH):c.365C>A (p.Pro122Gln)	SNV Germline	Chr12:102877538	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229524	rs_199475622	3 SubmittersRCV000088904 RCV001384288
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr)	SNV Germline	Chr12:102877518	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA286503	rs_199475606	5 SubmittersRCV000088907 RCV000811501
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)	SNV Germline	Chr12:102877517	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229527	rs_199475623	6 SubmittersRCV000088908 RCV000672629
NM_000277.3(PAH):c.400C>T (p.Gln134Ter)	SNV Germline	Chr12:102877503	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229534	rs_199475680	4 SubmittersRCV000088912 RCV000169559
NM_000277.3(PAH):c.428A>G (p.Asp143Gly)	SNV Germline	Chr12:102877475	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229538	rs_199475572	4 SubmittersRCV000088914 RCV001209954
NM_000277.3(PAH):c.434A>T (p.Asp145Val)	SNV Germline	Chr12:102877469	Likely pathogenic	Condition: not provided Phenylketonuria See cases PAH-related disorder	Reviewed By Expert Panel	CA229539	rs_140175796	12 SubmittersRCV000088915 RCV000546355 RCV002251980 RCV003925098
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)	SNV Germline	Chr12:102877464	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229541	rs_199475624	8 SubmittersRCV000088917 RCV000674963
NM_000277.3(PAH):c.440C>T (p.Pro147Leu)	SNV Germline	Chr12:102877463	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229543	rs_199475694	5 SubmittersRCV000088918 RCV000595460
NM_000277.3(PAH):c.441+1G>A	SNV Germline	Chr12:102877461	Pathogenic	Condition: not provided Phenylketonuria Inborn genetic diseases	Reviewed By Expert Panel	CA229545	rs_62517166	12 SubmittersRCV000088919 RCV000169579 RCV002515782
NM_000277.3(PAH):c.441+3G>C	SNV Germline	Chr12:102877459	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229546	rs_62508642	4 SubmittersRCV000088920 RCV000665892
NM_000277.3(PAH):c.442-5C>G	SNV Germline	Chr12:102866668	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA286504	rs_62514909	8 SubmittersRCV000088925 RCV000801016 RCV002222393
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)	SNV Germline	Chr12:102866663	Likely pathogenic	Condition: not provided Phenylketonuria PAH-related disorder	Reviewed By Expert Panel	CA229551	rs_80297647	8 SubmittersRCV000088928 RCV001053534 RCV003894944
NM_000277.3(PAH):c.460T>C (p.Tyr154His)	SNV Germline	Chr12:102866645	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229557	rs_199475587	3 SubmittersRCV000088933 RCV001093509
NM_000277.3(PAH):c.464G>A (p.Arg155His)	SNV Germline	Chr12:102866641	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229559	rs_199475663	11 SubmittersRCV000088934 RCV000632881
NM_000277.3(PAH):c.464G>C (p.Arg155Pro)	SNV Germline	Chr12:102866641	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229561	rs_199475663	5 SubmittersRCV000088935 RCV000675156
NM_000277.3(PAH):c.466G>C (p.Ala156Pro)	SNV Germline	Chr12:102866639	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229562	rs_199475686	2 SubmittersRCV000088936 RCV003479002
NM_000277.3(PAH):c.470G>T (p.Arg157Ile)	SNV Germline	Chr12:102866635	Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229567	rs_199475611	2 SubmittersRCV000088939 RCV002513933
NM_000277.3(PAH):c.472C>T (p.Arg158Trp)	SNV Germline	Chr12:102866633	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229570	rs_75166491	10 SubmittersRCV000088941 RCV000409986
NM_000277.3(PAH):c.482T>C (p.Phe161Ser)	SNV Unknown	Chr12:102866623	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229575	rs_79635844	3 SubmittersRCV000088945 RCV000674841
NM_000277.3(PAH):c.490A>G (p.Ile164Val)	SNV Germline	Chr12:102866615	Likely pathogenic	Condition: not provided Phenylketonuria See cases 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	Reviewed By Expert Panel	CA229576	rs_199475647	7 SubmittersRCV000088946 RCV000535090 RCV002251981 RCV003114254
NM_000277.3(PAH):c.491T>C (p.Ile164Thr)	SNV Germline	Chr12:102866614	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229578	rs_199475595	2 SubmittersRCV000088947 RCV002514543
NM_000277.3(PAH):c.493G>A (p.Ala165Thr)	SNV Germline	Chr12:102866612	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229579	rs_199475626	3 SubmittersRCV000088948 RCV000993614
NM_000277.3(PAH):c.498C>A (p.Tyr166Ter)	SNV Germline	Chr12:102866607	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229583	rs_199475645	2 SubmittersRCV000088950 RCV000993615
NM_000277.3(PAH):c.506G>A (p.Arg169His)	SNV Germline	Chr12:102866599	Likely pathogenic	Condition: not provided Phenylketonuria 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Inborn genetic diseases Pulmonary hypertension, primary, 1	Reviewed By Expert Panel	CA286505	rs_199475679	22 SubmittersRCV000088954 RCV000311018 RCV001530926 RCV002515783 RCV003987362
NM_000277.3(PAH):c.509+1G>A	SNV Germline	Chr12:102866595	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229589	rs_63102461	7 SubmittersRCV000088955 RCV001057888
NM_000277.3(PAH):c.510T>A (p.His170Gln)	SNV Germline	Chr12:102855332	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229597	rs_199475652	5 SubmittersRCV000088963 RCV001048510
NM_000277.3(PAH):c.511G>A (p.Gly171Arg)	SNV Germline	Chr12:102855331	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229598	rs_199475613	5 SubmittersRCV000088964 RCV000560269
NM_000277.3(PAH):c.512G>C (p.Gly171Ala)	SNV Germline	Chr12:102855330	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229599	rs_199475596	3 SubmittersRCV000088965 RCV003474692
NM_000277.3(PAH):c.514C>T (p.Gln172Ter)	SNV Germline	Chr12:102855328	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229600	rs_199475588	4 SubmittersRCV000088966 RCV001238801
NM_000277.3(PAH):c.520A>G (p.Ile174Val)	SNV Germline	Chr12:102855322	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229603	rs_199475632	9 SubmittersRCV000088968 RCV000675155
NM_000277.3(PAH):c.521T>C (p.Ile174Thr)	SNV Germline	Chr12:102855321	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229604	rs_138809906	2 SubmittersRCV000088969 RCV000993616
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)	SNV Germline	Chr12:102855316	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA275338	rs_199475575	14 SubmittersRCV000088971 RCV000179282
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)	SNV Germline	Chr12:102855315	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229606	rs_74486803	7 SubmittersRCV000088972 RCV000810165
NM_000277.3(PAH):c.527G>C (p.Arg176Pro)	SNV Germline	Chr12:102855315	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229608	rs_74486803	2 SubmittersRCV000088973 RCV001854513
NM_000277.3(PAH):c.529G>A (p.Val177Met)	SNV Germline	Chr12:102855313	Pathogenic	Condition: not provided Phenylketonuria Hyperphenylalaninemia PAH-related disorder	Reviewed By Expert Panel	CA229609	rs_199475602	12 SubmittersRCV000088975 RCV000534379 RCV000589313 RCV003905086
NM_000277.3(PAH):c.529G>C (p.Val177Leu)	SNV Germline	Chr12:102855313	Pathogenic	Condition: not provided PAH-related disorder Phenylketonuria	Reviewed By Expert Panel	CA229610	rs_199475602	11 SubmittersRCV000088976 RCV003390790 RCV000669836
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn)	SNV Germline	Chr12:102855307	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229613	rs_199475671	4 SubmittersRCV000088978 RCV000721182
NM_000277.3(PAH):c.535T>C (p.Tyr179His)	SNV Germline	Chr12:102855307	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229615	rs_199475671	3 SubmittersRCV000088979 RCV001778707
NM_000277.3(PAH):c.545A>G (p.Glu182Gly)	SNV Germline	Chr12:102855297	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229617	rs_199475617	5 SubmittersRCV000088980 RCV001248714
NM_000277.3(PAH):c.559T>C (p.Trp187Arg)	SNV Germline	Chr12:102855283	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229622	rs_62507272	4 SubmittersRCV000088984 RCV000671079
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)	SNV Germline	Chr12:102855281	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229624	rs_62507336	13 SubmittersRCV000088985 RCV000169529
NM_000277.3(PAH):c.561G>C (p.Trp187Cys)	SNV Germline	Chr12:102855281	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229626	rs_62507336	5 SubmittersRCV000088986 RCV000668474
NM_000277.3(PAH):c.563G>A (p.Gly188Asp)	SNV Germline	Chr12:102855279	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229628	rs_199475689	5 SubmittersRCV000088987 RCV000674846
NM_000277.3(PAH):c.569T>C (p.Val190Ala)	SNV Germline	Chr12:102855273	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229631	rs_62514919	5 SubmittersRCV000088989 RCV000632878
NM_000277.3(PAH):c.581T>C (p.Leu194Pro)	SNV Germline	Chr12:102855261	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229633	rs_5030844	6 SubmittersRCV000088991 RCV000411842
NM_000277.3(PAH):c.58C>T (p.Gln20Ter)	SNV Germline	Chr12:102917073	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229635	rs_199475585	8 SubmittersRCV000088993 RCV000169450
NM_000277.3(PAH):c.60+5G>T	SNV Germline	Chr12:102917066	Pathogenic	Condition: not provided Phenylketonuria Inborn genetic diseases PAH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274903	rs_62514895	13 SubmittersRCV000089000 RCV000173096 RCV000624585 RCV003415875
NM_000277.3(PAH):c.601C>T (p.His201Tyr)	SNV Germline	Chr12:102855241	Likely pathogenic	Condition: not provided Phenylketonuria Hyperphenylalaninemia	Reviewed By Expert Panel	CA229643	rs_62517205	8 SubmittersRCV000089001 RCV000509208 RCV000588479
NM_000277.3(PAH):c.602A>G (p.His201Arg)	SNV Germline	Chr12:102855240	Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229644	rs_62517180	2 SubmittersRCV000089002 RCV000806196
NM_000277.3(PAH):c.608G>A (p.Cys203Tyr)	SNV Germline	Chr12:102855234	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229645	rs_62507271	2 SubmittersRCV000089003 RCV001543657
NM_000277.3(PAH):c.609C>G (p.Cys203Trp)	SNV Germline	Chr12:102855233	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229647	rs_1801147	2 SubmittersRCV000089004 RCV001543658
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter)	SNV Germline	Chr12:102855230	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229654	rs_62514928	7 SubmittersRCV000089008 RCV000686246
NM_000277.3(PAH):c.613G>A (p.Glu205Lys)	SNV Germline	Chr12:102855229	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229656	rs_63083560	3 SubmittersRCV000089009 RCV001071178
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys)	SNV Germline	Chr12:102855225	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229660	rs_62508728	3 SubmittersRCV000089012 RCV000666489
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter)	SNV Germline	Chr12:102855224	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229662	rs_62517201	3 SubmittersRCV000089013 RCV000578371
NM_000277.3(PAH):c.620A>G (p.Asn207Ser)	SNV Germline	Chr12:102855222	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229665	rs_62508721	5 SubmittersRCV000089015 RCV000668775
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)	SNV Germline	Chr12:102855211	Pathogenic	Condition: not provided Phenylketonuria 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	Reviewed By Expert Panel	CA229666	rs_62514931	10 SubmittersRCV000089016 RCV000411219 RCV001192748
NM_000277.3(PAH):c.635T>C (p.Leu212Pro)	SNV Germline	Chr12:102855207	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229668	rs_62517198	6 SubmittersRCV000089018 RCV000671113
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter)	SNV Germline	Chr12:102855194	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229669	rs_62509013	8 SubmittersRCV000089019 RCV000179283
NM_000277.3(PAH):c.649T>C (p.Cys217Arg)	SNV Germline	Chr12:102855193	Conflicting classifications of pathogenicity	Condition: not provided Phenylketonuria	Criteria Provided Conflicting Classifications	CA229671	rs_62508718	4 SubmittersRCV000089020 RCV000664975
NM_000277.3(PAH):c.649T>G (p.Cys217Gly)	SNV Germline	Chr12:102855193	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229673	rs_62508718	2 SubmittersRCV000089021 RCV001789759
NM_000277.3(PAH):c.653G>T (p.Gly218Val)	SNV Germline	Chr12:102855189	Pathogenic	Condition: not provided Phenylketonuria PAH-related disorder	Reviewed By Expert Panel	CA229676	rs_62514933	10 SubmittersRCV000089023 RCV000705590 RCV003390791
NM_000277.3(PAH):c.665A>G (p.Asp222Gly)	SNV Germline	Chr12:102855177	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229679	rs_62507319	6 SubmittersRCV000089026 RCV001381395
NM_000277.3(PAH):c.665A>T (p.Asp222Val)	SNV Germline	Chr12:102855177	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229681	rs_62507319	3 SubmittersRCV000089027 RCV001789760
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)	SNV Germline	Chr12:102855171	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229682	rs_62507323	6 SubmittersRCV000089028 RCV001261644
NM_000277.3(PAH):c.673C>A (p.Pro225Thr)	SNV Germline	Chr12:102855169	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229685	rs_199475589	6 SubmittersRCV000089030 RCV000673267
NM_000277.3(PAH):c.673C>G (p.Pro225Ala)	SNV Germline	Chr12:102855169	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229686	rs_199475589	3 SubmittersRCV000089031 RCV001543660
NM_000277.3(PAH):c.676C>T (p.Gln226Ter)	SNV Germline	Chr12:102855166	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229689	rs_62508696	2 SubmittersRCV000089033 RCV001200001
NM_000277.3(PAH):c.678G>C (p.Gln226His)	SNV Germline	Chr12:102855164	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229691	rs_62508615	2 SubmittersRCV000089034 RCV001854514
NM_000277.3(PAH):c.688G>A (p.Val230Ile)	SNV Germline	Chr12:102855154	Likely pathogenic	Condition: not provided Phenylketonuria PAH-related disorder	Reviewed By Expert Panel	CA286506	rs_62516152	24 SubmittersRCV000089035 RCV000411829 RCV003398705
NM_000277.3(PAH):c.691T>C (p.Ser231Pro)	SNV Germline	Chr12:102855151	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229694	rs_5030845	7 SubmittersRCV000089037 RCV000190611
NM_000277.3(PAH):c.692C>T (p.Ser231Phe)	SNV Germline	Chr12:102855150	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229695	rs_62508577	3 SubmittersRCV000089038 RCV001857431
NM_000277.3(PAH):c.694C>T (p.Gln232Ter)	SNV Germline	Chr12:102855148	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229696	rs_62507348	6 SubmittersRCV000089039 RCV000169464
NM_000277.3(PAH):c.699C>A (p.Phe233Leu)	SNV Germline	Chr12:102855143	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229699	rs_62517208	2 SubmittersRCV000089041 RCV002259588
NM_000277.3(PAH):c.707-1G>A	SNV Germline	Chr12:102852951	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229703	rs_62507269	4 SubmittersRCV000089044 RCV000797518
NM_000277.3(PAH):c.707-2A>G	SNV Germline	Chr12:102852952	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229704	rs_62514938	2 SubmittersRCV000089045 RCV001375889
NM_000277.3(PAH):c.712A>C (p.Thr238Pro)	SNV Germline	Chr12:102852945	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229705	rs_199475577	5 SubmittersRCV000089047 RCV000672442
NM_000277.3(PAH):c.716G>A (p.Gly239Asp)	SNV Germline	Chr12:102852941	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229707	rs_62507283	2 SubmittersRCV000089049 RCV001857432
NM_000277.3(PAH):c.716G>C (p.Gly239Ala)	SNV Germline	Chr12:102852941	Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229709	rs_62507283	2 SubmittersRCV000089050 RCV002514545
NM_000277.3(PAH):c.716G>T (p.Gly239Val)	SNV Germline	Chr12:102852941	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229711	rs_62507283	6 SubmittersRCV000089051 RCV001215843
NM_000277.3(PAH):c.719T>C (p.Phe240Ser)	SNV Germline	Chr12:102852938	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229715	rs_62508594	2 SubmittersRCV000089053 RCV002259590
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)	SNV Germline	Chr12:102852936	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA273357	rs_76687508	17 SubmittersRCV000089054 RCV000153635
NM_000277.3(PAH):c.722G>A (p.Arg241His)	SNV Germline	Chr12:102852935	Pathogenic	Condition: not provided Phenylketonuria Inborn genetic diseases	Reviewed By Expert Panel	CA286507	rs_62508730	15 SubmittersRCV000089055 RCV000576386 RCV003343638
NM_000277.3(PAH):c.722G>T (p.Arg241Leu)	SNV Germline	Chr12:102852935	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229716	rs_62508730	4 SubmittersRCV000089056 RCV000688713
NM_000277.3(PAH):c.724C>T (p.Leu242Phe)	SNV Germline	Chr12:102852933	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229718	rs_199475578	5 SubmittersRCV000089058 RCV000411222
NM_000277.3(PAH):c.728G>T (p.Arg243Leu)	SNV Germline	Chr12:102852929	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229719	rs_62508588	2 SubmittersRCV000089060 RCV001543659
NM_000277.3(PAH):c.733G>A (p.Val245Met)	SNV Germline	Chr12:102852924	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229722	rs_62508694	2 SubmittersRCV000089062 RCV002259591
NM_000277.3(PAH):c.733G>C (p.Val245Leu)	SNV Germline	Chr12:102852924	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229724	rs_62508694	8 SubmittersRCV000089063 RCV000340479
NM_000277.3(PAH):c.734T>A (p.Val245Glu)	SNV Germline	Chr12:102852923	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229725	rs_76212747	2 SubmittersRCV000089064 RCV000632879
NM_000277.3(PAH):c.739G>A (p.Gly247Ser)	SNV Germline	Chr12:102852918	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229730	rs_62508731	2 SubmittersRCV000089070 RCV000758094
NM_000277.3(PAH):c.739G>C (p.Gly247Arg)	SNV Germline	Chr12:102852918	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229732	rs_62508731	4 SubmittersRCV000089071 RCV000668140
NM_000277.3(PAH):c.740G>T (p.Gly247Val)	SNV Germline	Chr12:102852917	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229736	rs_199475579	6 SubmittersRCV000089073 RCV000169396
NM_000277.3(PAH):c.745C>T (p.Leu249Phe)	SNV Germline	Chr12:102852912	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA273356	rs_74503222	11 SubmittersRCV000089076 RCV000153634
NM_000277.3(PAH):c.746T>A (p.Leu249His)	SNV Germline	Chr12:102852911	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229740	rs_62507338	2 SubmittersRCV000089077 RCV002259595
NM_000277.3(PAH):c.754C>G (p.Arg252Gly)	SNV Germline	Chr12:102852903	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229742	rs_5030847	4 SubmittersRCV000089078 RCV000674327
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)	SNV Germline	Chr12:102852902	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229743	rs_62644503	12 SubmittersRCV000089080 RCV000179742
NM_000277.3(PAH):c.770G>T (p.Gly257Val)	SNV Germline	Chr12:102852887	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229753	rs_62642908	5 SubmittersRCV000089087 RCV000668413
NM_000277.3(PAH):c.775G>A (p.Ala259Thr)	SNV Germline	Chr12:102852882	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229755	rs_62642932	3 SubmittersRCV000089088 RCV000411173
NM_000277.3(PAH):c.782G>C (p.Arg261Pro)	SNV Germline	Chr12:102852875	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229759	rs_5030849	6 SubmittersRCV000089091 RCV000410877
NM_000277.3(PAH):c.794G>A (p.Cys265Tyr)	SNV Germline	Chr12:102852863	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229763	rs_62507335	3 SubmittersRCV000089095 RCV000810805
NM_000277.3(PAH):c.799C>G (p.Gln267Glu)	SNV Germline	Chr12:102852858	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229769	rs_199475676	2 SubmittersRCV000089098 RCV000758126
NM_000277.3(PAH):c.801G>C (p.Gln267His)	SNV Germline	Chr12:102852856	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229771	rs_199475675	2 SubmittersRCV000089099 RCV000758096
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)	SNV Germline	Chr12:102852852	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229775	rs_62508692	14 SubmittersRCV000089101 RCV000281383
NM_000277.3(PAH):c.806T>A (p.Ile269Asn)	SNV Germline	Chr12:102852851	Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229776	rs_199475644	4 SubmittersRCV000089102 RCV000763291
NM_000277.3(PAH):c.809G>A (p.Arg270Lys)	SNV Germline	Chr12:102852848	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229781	rs_62514950	10 SubmittersRCV000089105 RCV000153632
NM_000277.3(PAH):c.810A>T (p.Arg270Ser)	SNV Germline	Chr12:102852847	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229782	rs_62514951	2 SubmittersRCV000089106 RCV003323400
NM_000277.3(PAH):c.812A>G (p.His271Arg)	SNV Germline	Chr12:102852845	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA286508	rs_199475692	2 SubmittersRCV000089109 RCV000758132
NM_000277.3(PAH):c.823C>T (p.Pro275Ser)	SNV Germline	Chr12:102852834	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229789	rs_62508691	4 SubmittersRCV000089114 RCV000672603
NM_000277.3(PAH):c.824C>G (p.Pro275Arg)	SNV Germline	Chr12:102852833	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229791	rs_62508715	6 SubmittersRCV000089115 RCV000672381
NM_000277.3(PAH):c.824C>T (p.Pro275Leu)	SNV Germline	Chr12:102852833	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229793	rs_62508715	4 SubmittersRCV000089116 RCV000670910
NM_000277.3(PAH):c.826A>G (p.Met276Val)	SNV Germline	Chr12:102852831	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229794	rs_62516149	5 SubmittersRCV000089117 RCV000664652
NM_000277.3(PAH):c.827T>A (p.Met276Lys)	SNV Germline	Chr12:102852830	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229795	rs_62508722	3 SubmittersRCV000089118 RCV000758121
NM_000277.3(PAH):c.827T>G (p.Met276Arg)	SNV Germline	Chr12:102852830	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229797	rs_62508722	4 SubmittersRCV000089119 RCV001375900
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys)	SNV Germline	Chr12:102852827	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229800	rs_62516155	4 SubmittersRCV000089121 RCV000411640
NM_000277.3(PAH):c.832A>G (p.Thr278Ala)	SNV Germline	Chr12:102852825	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229801	rs_62516156	2 SubmittersRCV000089122 RCV001789762
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)	SNV Germline	Chr12:102852824	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229802	rs_62507262	8 SubmittersRCV000089123 RCV000665406
NM_000277.3(PAH):c.833C>T (p.Thr278Ile)	SNV Germline	Chr12:102852824	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229803	rs_62507262	6 SubmittersRCV000089124 RCV000672785
NM_000277.3(PAH):c.838G>C (p.Glu280Gln)	SNV Germline	Chr12:102852819	Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229805	rs_62508698	2 SubmittersRCV000089125 RCV001857433
NM_000277.3(PAH):c.839A>G (p.Glu280Gly)	SNV Germline	Chr12:102852818	Pathogenic	Phenylketonuria Condition: not provided	Criteria Provided Single Submitter	CA229808	rs_62508734	2 SubmittersRCV000632877 RCV000089127
NM_000277.3(PAH):c.842+1G>T	SNV Germline	Chr12:102852814	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229812	rs_5030852	2 SubmittersRCV000089130 RCV000993619
NM_000277.3(PAH):c.842+3G>C	SNV Germline	Chr12:102852812	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229814	rs_62507324	10 SubmittersRCV000089132 RCV000409987
NM_000277.3(PAH):c.842+5G>A	SNV Germline	Chr12:102852810	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229815	rs_62516146	9 SubmittersRCV000089133 RCV000169348
NM_000277.3(PAH):c.843-2A>T	SNV Germline	Chr12:102851758	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229816	rs_62509019	2 SubmittersRCV000089134 RCV000993620
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)	SNV Germline	Chr12:102851755	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229817	rs_199475582	6 SubmittersRCV000089135 RCV000411380
NM_000277.3(PAH):c.845A>G (p.Asp282Gly)	SNV Germline	Chr12:102851754	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229818	rs_199475660	3 SubmittersRCV000089136 RCV002514547
NM_000277.3(PAH):c.847A>T (p.Ile283Phe)	SNV Germline	Chr12:102851752	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229820	rs_62517168	8 SubmittersRCV000089137 RCV000169005
NM_000277.3(PAH):c.848T>A (p.Ile283Asn)	SNV Germline	Chr12:102851751	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229821	rs_62508693	4 SubmittersRCV000089138 RCV000758133
NM_000277.3(PAH):c.850T>C (p.Cys284Arg)	SNV Germline	Chr12:102851749	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229822	rs_199475682	2 SubmittersRCV000089139 RCV001543638
NM_000277.3(PAH):c.856G>A (p.Glu286Lys)	SNV Germline	Chr12:102851743	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229826	rs_62508739	5 SubmittersRCV000089141 RCV000758134
NM_000277.3(PAH):c.865G>C (p.Gly289Arg)	SNV Germline	Chr12:102851734	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229830	rs_199475693	2 SubmittersRCV000089143 RCV000758136
NM_000277.3(PAH):c.884C>G (p.Ser295Ter)	SNV Germline	Chr12:102851715	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229834	rs_62642910	2 SubmittersRCV000089145 RCV000993621
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)	SNV Germline	Chr12:102851710	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229836	rs_62642945	8 SubmittersRCV000089146 RCV000993622
NM_000277.3(PAH):c.899C>T (p.Ala300Val)	SNV Germline	Chr12:102851700	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229839	rs_199475609	4 SubmittersRCV000089149 RCV000669088
NM_000277.3(PAH):c.907T>C (p.Ser303Pro)	SNV Germline	Chr12:102851692	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229841	rs_199475608	2 SubmittersRCV000089151 RCV000993625
NM_000277.3(PAH):c.907T>G (p.Ser303Ala)	SNV Germline	Chr12:102851692	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229842	rs_199475608	2 SubmittersRCV000089152 RCV001543639
NM_000277.3(PAH):c.911A>G (p.Gln304Arg)	SNV Germline	Chr12:102851688	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229844	rs_199475592	2 SubmittersRCV000089153 RCV001543640
NM_000277.3(PAH):c.912G>A (p.Gln304=)	SNV Germline	Chr12:102851687	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229845	rs_199475583	7 SubmittersRCV000089154 RCV000672215
NM_000277.3(PAH):c.913-7A>G	SNV Germline	Chr12:102846958	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229848	rs_62517165	10 SubmittersRCV000089156 RCV000589029
NM_000277.3(PAH):c.922C>T (p.Leu308Phe)	SNV Germline	Chr12:102846942	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229851	rs_62642095	3 SubmittersRCV000089159 RCV003474693
NM_000277.3(PAH):c.926C>A (p.Ala309Asp)	SNV Germline	Chr12:102846938	Pathogenic/Likely pathogenic	Phenylketonuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA229853	rs_62642935	3 SubmittersRCV000668228 RCV000089160
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)	SNV Germline	Chr12:102846935	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229855	rs_62642913	6 SubmittersRCV000089162 RCV000552302
NM_000277.3(PAH):c.935G>A (p.Gly312Asp)	SNV Germline	Chr12:102846929	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229857	rs_62642915	3 SubmittersRCV000089165 RCV001269049
NM_000277.3(PAH):c.938C>T (p.Ala313Val)	SNV Germline	Chr12:102846926	Pathogenic	Condition: not provided Phenylketonuria See cases	Reviewed By Expert Panel	CA229861	rs_62642914	5 SubmittersRCV000089167 RCV001857434 RCV002251982
NM_000277.3(PAH):c.940C>A (p.Pro314Thr)	SNV Germline	Chr12:102846924	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229863	rs_199475650	6 SubmittersRCV000089168 RCV000672630
NM_000277.3(PAH):c.940C>T (p.Pro314Ser)	SNV Germline	Chr12:102846924	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229865	rs_199475650	3 SubmittersRCV000089169 RCV000758098
NM_000277.3(PAH):c.941C>A (p.Pro314His)	SNV Germline	Chr12:102846923	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229867	rs_62642940	9 SubmittersRCV000089171 RCV000409567
NM_000277.3(PAH):c.960G>C (p.Lys320Asn)	SNV Germline	Chr12:102846904	Pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229871	rs_199475615	6 SubmittersRCV000089174 RCV000666332
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)	SNV Germline	Chr12:102846900	Pathogenic	Condition: not provided Phenylketonuria Inborn genetic diseases	Reviewed By Expert Panel	CA229875	rs_62514957	8 SubmittersRCV000089176 RCV000797233 RCV002515784
NM_000277.3(PAH):c.969+1G>A	SNV Germline	Chr12:102846894	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229878	rs_62508584	4 SubmittersRCV000089179 RCV000797251
NM_000277.3(PAH):c.969+5G>A	SNV Germline	Chr12:102846890	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229879	rs_62508637	3 SubmittersRCV000089181 RCV001093511
NM_000277.3(PAH):c.970-2A>C	SNV Germline	Chr12:102844433	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229882	rs_62517199	2 SubmittersRCV000089184 RCV001269320
NM_000277.3(PAH):c.975C>G (p.Tyr325Ter)	SNV Germline	Chr12:102844426	Pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229885	rs_62508573	5 SubmittersRCV000089187 RCV000410321
NM_000277.3(PAH):c.982A>G (p.Thr328Ala)	SNV Germline	Chr12:102844419	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA229891	rs_199475616	4 SubmittersRCV000089190 RCV001854516
NM_000277.3(PAH):c.990G>C (p.Glu330Asp)	SNV Germline	Chr12:102844411	Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Single Submitter	CA229893	rs_62508580	2 SubmittersRCV000089191 RCV002513935
NM_000277.3(PAH):c.992T>G (p.Phe331Cys)	SNV Germline	Chr12:102844409	Pathogenic/Likely pathogenic	Condition: not provided Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA229895	rs_199475614	3 SubmittersRCV000089193 RCV002515785
NM_000277.3(PAH):c.1066-2A>T	SNV Germline	Chr12:102843781	Pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA267625	rs_281865447	2 SubmittersRCV000106339
NM_000277.3(PAH):c.1163T>C (p.Val388Ala)	SNV Germline	Chr12:102843682	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA267628	rs_281865435	2 SubmittersRCV000106341
NM_000277.3(PAH):c.1180G>T (p.Asp394Tyr)	SNV Germline	Chr12:102843665	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA267632	rs_62516142	2 SubmittersRCV000106343
NM_000277.3(PAH):c.1196T>C (p.Val399Ala)	SNV Germline	Chr12:102843649	Likely pathogenic	Phenylketonuria See cases	Reviewed By Expert Panel	CA267634	rs_281865436	3 SubmittersRCV000106344 RCV004584352
NM_000277.3(PAH):c.164T>C (p.Phe55Ser)	SNV Germline	Chr12:102912795	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA267639	rs_281865438	2 SubmittersRCV000106347
NM_000277.3(PAH):c.169G>T (p.Glu57Ter)	SNV Germline	Chr12:102894918	Pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA267642	rs_140945592	2 SubmittersRCV000106349
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)	SNV Germline	Chr12:102894904	Pathogenic/Likely pathogenic	Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA267644	rs_199475634	4 SubmittersRCV000106350
NM_000277.3(PAH):c.196G>T (p.Glu66Ter)	SNV Germline	Chr12:102894891	Pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA267645	rs_281865454	2 SubmittersRCV000106351
NM_000277.3(PAH):c.441+6T>A	SNV Germline	Chr12:102877456	Likely pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel	CA267654	rs_199475698	8 SubmittersRCV000106356 RCV001563425
NM_000277.3(PAH):c.442-2A>C	SNV Germline	Chr12:102866665	Pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA267655	rs_281865448	5 SubmittersRCV000106357
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter)	SNV Germline	Chr12:102866601	Pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA267656	rs_281865455	3 SubmittersRCV000106358
NM_000277.3(PAH):c.591G>C (p.Leu197Phe)	SNV Germline	Chr12:102855251	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA267662	rs_281865442	4 SubmittersRCV000106361
NM_000277.3(PAH):c.60+5G>A	SNV Unknown	Chr12:102917066	Likely pathogenic	Phenylketonuria	No Assertion Criteria Provided	CA267664	rs_62514895	1 SubmittersRCV000106362
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)	SNV Germline	Chr12:102855210	Pathogenic/Likely pathogenic	Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA267667	rs_281865443	6 SubmittersRCV000106364
NM_000277.3(PAH):c.785T>G (p.Val262Gly)	SNV Germline	Chr12:102852872	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA267671	rs_281865445	2 SubmittersRCV000106366
NM_000277.3(PAH):c.796A>C (p.Thr266Pro)	SNV Germline	Chr12:102852861	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA267673	rs_62508752	2 SubmittersRCV000106367
NM_000277.3(PAH):c.841C>G (p.Pro281Ala)	SNV Unknown	Chr12:102852816	Likely pathogenic	Phenylketonuria	No Assertion Criteria Provided	CA267678	rs_199475654	1 SubmittersRCV000106370
NM_000277.3(PAH):c.912+2T>C	SNV Germline	Chr12:102851685	Pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA267684	rs_281865449	3 SubmittersRCV000106373
NM_000277.3(PAH):c.970-1G>A	SNV Germline	Chr12:102844432	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA267690	rs_202183605	3 SubmittersRCV000106379
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)	SNV Germline	Chr12:102866600	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA267693	rs_281865440	6 SubmittersRCV000111461
NM_000277.3(PAH):c.1065+1G>T	SNV Germline	Chr12:102844335	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel		rs_62516147	6 SubmittersRCV001092606 RCV001269057
NM_000277.3(PAH):c.615G>C (p.Glu205Asp)	SNV Germline	Chr12:102855227	Pathogenic	Phenylketonuria	Criteria Provided Single Submitter		rs_765552494	1 SubmittersRCV002000227
NM_000277.3(PAH):c.2T>C (p.Met1Thr)	SNV Germline	Chr12:102917129	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel	CA312807	rs_62508575	6 SubmittersRCV000186076 RCV000984289
NM_000277.3(PAH):c.1025C>A (p.Ala342Glu)	SNV Unknown	Chr12:102844376	Likely pathogenic	Phenylketonuria	No Assertion Criteria Provided	CA275935	rs_796064501	1 SubmittersRCV000190375
NM_000277.3(PAH):c.836C>T (p.Pro279Leu)	SNV Germline	Chr12:102852821	Pathogenic	Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA275939	rs_796064503	5 SubmittersRCV000190377
NM_000277.3(PAH):c.242C>A (p.Thr81Asn)	SNV Germline	Chr12:102894845	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA275937	rs_796064502	3 SubmittersRCV000190376
NM_000277.3(PAH):c.1172G>C (p.Ser391Thr)	SNV Germline	Chr12:102843673	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA357240	rs_869312997	2 SubmittersRCV000210788
NM_000277.3(PAH):c.320A>G (p.His107Arg)	SNV Germline	Chr12:102894767	Pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA354151	rs_542645236	6 SubmittersRCV000210807
NM_000277.3(PAH):c.110T>C (p.Leu37Pro)	SNV Germline	Chr12:102912849	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA357242	rs_869312996	2 SubmittersRCV000210792
NM_000277.3(PAH):c.356C>T (p.Pro119Leu)	SNV Germline	Chr12:102877547	Conflicting classifications of pathogenicity	Condition: not provided Phenylketonuria	Criteria Provided Conflicting Classifications	CA6748965	rs_374999809	2 SubmittersRCV000385558 RCV002519074
NM_000277.3(PAH):c.1315+1G>T	SNV Germline	Chr12:102840399	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA16020993	rs_5030861	2 SubmittersRCV000410802
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter)	SNV Germline	Chr12:102840433	Pathogenic/Likely pathogenic	Phenylketonuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041558	rs_567261857	3 SubmittersRCV000410471 RCV000759177
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter)	SNV Germline	Chr12:102843698	Pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA16020949	rs_1037293795	3 SubmittersRCV000409716
NM_000277.3(PAH):c.992T>C (p.Phe331Ser)	SNV Germline	Chr12:102844409	Pathogenic/Likely pathogenic	Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA16020915	rs_199475614	3 SubmittersRCV000410352
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter)	SNV Germline	Chr12:102866607	Pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA16020801	rs_199475645	6 SubmittersRCV000410899
NM_000277.3(PAH):c.1316-2A>G	SNV Germline	Chr12:102839220	Likely pathogenic	not specified Phenylketonuria	Reviewed By Expert Panel	CA6748680	rs_760830761	2 SubmittersRCV000506381 RCV003479144
NM_000277.3(PAH):c.842+4A>G	SNV Germline	Chr12:102852811	Likely pathogenic	not specified Phenylketonuria	Reviewed By Expert Panel	CA16020870	rs_1555204434	3 SubmittersRCV000506590 RCV000721176
NM_000277.3(PAH):c.934G>T (p.Gly312Cys)	SNV Germline	Chr12:102846930	Likely pathogenic	Phenylketonuria	Criteria Provided Single Submitter	CA386291684	rs_763115697	1 SubmittersRCV000515773
NM_000277.3(PAH):c.1037G>A (p.Gly346Glu)	SNV Germline	Chr12:102844364	Pathogenic	Phenylketonuria	Criteria Provided Single Submitter	CA16020921	rs_1555203737	1 SubmittersRCV000553622
NM_000277.3(PAH):c.865G>A (p.Gly289Arg)	SNV Germline	Chr12:102851734	Pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA386294434	rs_199475693	3 SubmittersRCV000548849
NM_000277.3(PAH):c.835C>G (p.Pro279Ala)	SNV Germline	Chr12:102852822	Pathogenic/Likely pathogenic	Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts	CA386294536	rs_1555204441	2 SubmittersRCV000551613
NM_000277.3(PAH):c.226G>T (p.Glu76Ter)	SNV Germline	Chr12:102894861	Pathogenic	Phenylketonuria	Reviewed By Expert Panel	CA16020752	rs_762949770	2 SubmittersRCV000590560
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)	SNV Germline	Chr12:102839204	Conflicting classifications of pathogenicity	Phenylketonuria	Criteria Provided Conflicting Classifications		rs_1402168594	3 SubmittersRCV000666307
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)	SNV Germline	Chr12:102840430	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_764974157	4 SubmittersRCV000666644
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)	SNV Germline	Chr12:102840468	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1445893088	3 SubmittersRCV000674315
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)	SNV Germline	Chr12:102840497	Likely pathogenic	Phenylketonuria Condition: not provided	Reviewed By Expert Panel		rs_773526027	7 SubmittersRCV000668256 RCV000985880
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu)	SNV Germline	Chr12:102843701	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1555203681	3 SubmittersRCV000672945
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)	SNV Germline	Chr12:102843771	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_376480977	6 SubmittersRCV000672872
NM_000277.3(PAH):c.1069T>C (p.Cys357Arg)	SNV Germline	Chr12:102843776	Conflicting classifications of pathogenicity	Phenylketonuria	Criteria Provided Conflicting Classifications		rs_62508595	2 SubmittersRCV000667720
NM_000277.3(PAH):c.523C>T (p.Pro175Ser)	SNV Germline	Chr12:102855319	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_199475604	2 SubmittersRCV000671178
NM_000277.3(PAH):c.510-2A>G	SNV Germline	Chr12:102855334	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1555204750	5 SubmittersRCV000666780
NM_000277.3(PAH):c.441+1G>C	SNV Germline	Chr12:102877461	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62517166	2 SubmittersRCV000672959
NM_000277.3(PAH):c.301G>A (p.Asp101Asn)	SNV Germline	Chr12:102894786	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1555207979	5 SubmittersRCV000669377
NM_000277.3(PAH):c.169-2A>G	SNV Germline	Chr12:102894920	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1226613045	7 SubmittersRCV000670987
NM_000277.3(PAH):c.913-2A>C	SNV Germline	Chr12:102846953	Pathogenic/Likely pathogenic	Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts		rs_1555203951	2 SubmittersRCV000668382
NM_000277.3(PAH):c.910C>T (p.Gln304Ter)	SNV Germline	Chr12:102851689	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1555204295	4 SubmittersRCV000674358
NM_000277.3(PAH):c.443G>T (p.Gly148Val)	SNV Germline	Chr12:102866662	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1555205655	2 SubmittersRCV000667958
NM_000277.3(PAH):c.1199+2T>G	SNV Germline	Chr12:102843644	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62508737	2 SubmittersRCV000673497
NM_000277.3(PAH):c.800A>G (p.Gln267Arg)	SNV Germline	Chr12:102852857	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_778154939	2 SubmittersRCV000672289
NM_000277.3(PAH):c.689T>C (p.Val230Ala)	SNV Germline	Chr12:102855153	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_199475673	3 SubmittersRCV000673567
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)	SNV Germline	Chr12:102855224	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62517201	6 SubmittersRCV000672692
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)	SNV Germline	Chr12:102866642	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_539743701	7 SubmittersRCV000669560
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)	SNV Germline	Chr12:102840459	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_752255985	5 SubmittersRCV000667759
NM_000277.3(PAH):c.870T>G (p.His290Gln)	SNV Germline	Chr12:102851729	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_751203209	2 SubmittersRCV000674910
NM_000277.3(PAH):c.828G>A (p.Met276Ile)	SNV Germline	Chr12:102852829	Conflicting classifications of pathogenicity	Phenylketonuria	Criteria Provided Conflicting Classifications		rs_62514954	2 SubmittersRCV000666601
NM_000277.3(PAH):c.668A>T (p.Asn223Ile)	SNV Germline	Chr12:102855174	Likely pathogenic	Phenylketonuria PAH-related disorder	Reviewed By Expert Panel		rs_201245932	3 SubmittersRCV000664486 RCV003420168
NM_000277.3(PAH):c.505C>G (p.Arg169Gly)	SNV Germline	Chr12:102866600	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_281865440	2 SubmittersRCV000666071
NM_000277.3(PAH):c.127G>T (p.Glu43Ter)	SNV Germline	Chr12:102912832	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1555209575	2 SubmittersRCV000673220
NM_000277.3(PAH):c.60+1G>C	SNV Unknown	Chr12:102917070	Likely pathogenic	Phenylketonuria	Criteria Provided Single Submitter		rs_1555209932	1 SubmittersRCV000669188
NM_000277.3(PAH):c.3G>C (p.Met1Ile)	SNV Germline	Chr12:102917128	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62514893	3 SubmittersRCV000709702
NM_000277.3(PAH):c.970-1G>C	SNV Germline	Chr12:102844432	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel		rs_202183605	2 SubmittersRCV000731213 RCV003316802
NM_000277.3(PAH):c.1216A>G (p.Ile406Val)	SNV Germline	Chr12:102840499	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_749613899	3 SubmittersRCV000758135
NM_000277.3(PAH):c.859C>G (p.Leu287Val)	SNV Germline	Chr12:102851740	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_781096854	1 SubmittersRCV000758129
NM_000277.3(PAH):c.813T>G (p.His271Gln)	SNV Germline	Chr12:102852844	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1565846764	1 SubmittersRCV000758104
NM_000277.3(PAH):c.803A>G (p.Tyr268Cys)	SNV Germline	Chr12:102852854	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1565846805	2 SubmittersRCV000758130
NM_000277.3(PAH):c.788T>C (p.Phe263Ser)	SNV Germline	Chr12:102852869	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1565846863	1 SubmittersRCV000758097
NM_000277.3(PAH):c.773T>C (p.Leu258Pro)	SNV Germline	Chr12:102852884	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1565846899	1 SubmittersRCV000758119
NM_000277.3(PAH):c.712A>G (p.Thr238Ala)	SNV Germline	Chr12:102852945	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_199475577	2 SubmittersRCV000758131
NM_000277.3(PAH):c.697T>A (p.Phe233Ile)	SNV Germline	Chr12:102855145	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1565848061	1 SubmittersRCV000758127
NM_000277.3(PAH):c.694C>G (p.Gln232Glu)	SNV Germline	Chr12:102855148	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62507348	1 SubmittersRCV000758123
NM_000277.3(PAH):c.224A>T (p.Asp75Val)	SNV Germline	Chr12:102894863	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1565866547	1 SubmittersRCV000758113
NM_000277.3(PAH):c.224A>G (p.Asp75Gly)	SNV Germline	Chr12:102894863	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1565866547	1 SubmittersRCV000758118
NM_000277.3(PAH):c.136G>C (p.Gly46Arg)	SNV Germline	Chr12:102912823	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_74603784	1 SubmittersRCV000758110
NM_000277.3(PAH):c.461A>T (p.Tyr154Phe)	SNV Germline	Chr12:102866644	Likely pathogenic	Condition: not provided Phenylketonuria	Reviewed By Expert Panel		rs_1565853526	3 SubmittersRCV000759178 RCV001093514
NM_000277.3(PAH):c.1304A>T (p.Asp435Val)	SNV Germline	Chr12:102840411	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1592945394	3 SubmittersRCV000796569
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)	SNV Germline	Chr12:102843736	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1592947508	4 SubmittersRCV000850225
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys)	SNV Germline	Chr12:102843743	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1488232864	3 SubmittersRCV000850224
NM_000277.3(PAH):c.590T>A (p.Leu197Ter)	SNV Germline	Chr12:102855252	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_886042078	2 SubmittersRCV000850223
NM_000277.3(PAH):c.32T>A (p.Leu11Ter)	SNV Germline	Chr12:102917099	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1346707834	2 SubmittersRCV000850222
NM_000277.3(PAH):c.1200-2A>C	SNV Germline	Chr12:102840517	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1592945607	2 SubmittersRCV000850221
NM_000277.3(PAH):c.875C>T (p.Pro292Leu)	SNV Germline	Chr12:102851724	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1200240274	2 SubmittersRCV000768445
NM_000277.3(PAH):c.1316-1G>A	SNV Germline	Chr12:102839219	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1592944816	2 SubmittersRCV000851536
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser)	SNV Germline	Chr12:102840453	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_199475696	3 SubmittersRCV000792932
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)	SNV Germline	Chr12:102843722	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_184148104	5 SubmittersRCV000817803
NM_000277.3(PAH):c.799C>T (p.Gln267Ter)	SNV Germline	Chr12:102852858	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_199475676	2 SubmittersRCV000823427
NM_000277.3(PAH):c.516G>T (p.Gln172His)	SNV Germline	Chr12:102855326	Likely pathogenic	Phenylketonuria Condition: not provided Inborn genetic diseases	Reviewed By Expert Panel		rs_192592111	6 SubmittersRCV000822749 RCV001574524 RCV003243346
NM_000277.3(PAH):c.223G>A (p.Asp75Asn)	SNV Germline	Chr12:102894864	Likely pathogenic	Phenylketonuria	Criteria Provided Single Submitter		rs_767453024	1 SubmittersRCV000805522
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)	SNV Germline	Chr12:102844391	Conflicting classifications of pathogenicity	Phenylketonuria Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_62517206	3 SubmittersRCV000941282 RCV004029712
NM_000277.3(PAH):c.1085C>G (p.Pro362Arg)	SNV Unknown	Chr12:102843760	Likely pathogenic	Phenylketonuria	Criteria Provided Single Submitter		rs_1592947563	1 SubmittersRCV000988898
NM_000277.3(PAH):c.903G>T (p.Gln301His)	SNV Germline	Chr12:102851696	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1592952179	1 SubmittersRCV000993643
NM_000277.3(PAH):c.902A>C (p.Gln301Pro)	SNV Germline	Chr12:102851697	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1592952183	1 SubmittersRCV000993642
NM_000277.3(PAH):c.901C>T (p.Gln301Ter)	SNV Germline	Chr12:102851698	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1057520732	1 SubmittersRCV000993641
NM_000277.3(PAH):c.890G>T (p.Arg297Leu)	SNV Germline	Chr12:102851709	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62642939	3 SubmittersRCV000993640
NM_000277.3(PAH):c.868C>T (p.His290Tyr)	SNV Germline	Chr12:102851731	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1486763160	2 SubmittersRCV000993602
NM_000277.3(PAH):c.494C>A (p.Ala165Asp)	SNV Germline	Chr12:102866611	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1592961381	1 SubmittersRCV000993635
NM_000277.3(PAH):c.292T>G (p.Leu98Val)	SNV Germline	Chr12:102894795	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1592978725	1 SubmittersRCV000993634
NM_000277.3(PAH):c.168+2T>C	SNV Germline	Chr12:102912789	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1025860114	1 SubmittersRCV000993645
NM_000277.3(PAH):c.168+1G>T	SNV Germline	Chr12:102912790	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62514898	1 SubmittersRCV000993644
NM_000277.3(PAH):c.60+4A>T	SNV Germline	Chr12:102917067	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1592991145	1 SubmittersRCV000993601
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr)	SNV Germline	Chr12:102839195	Pathogenic	Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts		rs_1192400891	2 SubmittersRCV001062679
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)	SNV Germline	Chr12:102843671	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_180819807	8 SubmittersRCV001058418
NM_000277.3(PAH):c.516G>C (p.Gln172His)	SNV Germline	Chr12:102855326	Likely pathogenic	Phenylketonuria RASopathy	Criteria Provided Multiple Submitters No Conflicts		rs_192592111	2 SubmittersRCV001048823 RCV004545029
NM_000277.3(PAH):c.1200-2A>G	SNV Germline	Chr12:102840517	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1592945607	5 SubmittersRCV001069317
NM_000277.3(PAH):c.353-1G>A	SNV Germline	Chr12:102877551	Pathogenic	Phenylketonuria	Criteria Provided Single Submitter		rs_1876628530	1 SubmittersRCV001061595
NM_000277.3(PAH):c.913-2A>G	SNV Germline	Chr12:102846953	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1555203951	2 SubmittersRCV001044810
NM_000277.3(PAH):c.1200-1G>C	SNV Germline	Chr12:102840516	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62507322	1 SubmittersRCV001093524
NM_000277.3(PAH):c.1146C>G (p.Phe382Leu)	SNV Germline	Chr12:102843699	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1874691554	1 SubmittersRCV001093510
NM_000277.3(PAH):c.1066-1G>T	SNV Germline	Chr12:102843780	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62508684	2 SubmittersRCV001093523
NM_000277.3(PAH):c.1066-1G>C	SNV Germline	Chr12:102843780	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62508684	1 SubmittersRCV001093522
NM_000277.3(PAH):c.1029T>A (p.Tyr343Ter)	SNV Germline	Chr12:102844372	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1874735553	1 SubmittersRCV001093520
NM_000277.3(PAH):c.443G>A (p.Gly148Asp)	SNV Germline	Chr12:102866662	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1555205655	2 SubmittersRCV001093513
NM_000277.3(PAH):c.353-2A>G	SNV Germline	Chr12:102877552	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1876628624	1 SubmittersRCV001093521
NM_000277.3(PAH):c.185T>C (p.Leu62Pro)	SNV Germline	Chr12:102894902	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1877437661	1 SubmittersRCV001093519
NM_000277.3(PAH):c.1161C>A (p.Tyr387Ter)	SNV Germline	Chr12:102843684	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_149595475	2 SubmittersRCV001194128
NM_000277.3(PAH):c.532G>A (p.Glu178Lys)	SNV Germline	Chr12:102855310	Pathogenic	not specified Phenylketonuria	Reviewed By Expert Panel		rs_1448720360	4 SubmittersRCV001193452 RCV001375893
NM_000277.3(PAH):c.1318G>T (p.Glu440Ter)	SNV Germline	Chr12:102839216	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1874485021	1 SubmittersRCV001200010
NM_000277.3(PAH):c.1316-2A>C	SNV Germline	Chr12:102839220	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_760830761	2 SubmittersRCV001199996
NM_000277.3(PAH):c.1259G>T (p.Arg420Met)	SNV Germline	Chr12:102840456	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_767075719	5 SubmittersRCV001200002
NM_000277.3(PAH):c.1228T>A (p.Phe410Ile)	SNV Germline	Chr12:102840487	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1874543567	1 SubmittersRCV001200016
NM_000277.3(PAH):c.1129T>G (p.Tyr377Asp)	SNV Germline	Chr12:102843716	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1874693635	1 SubmittersRCV001200015
NM_000277.3(PAH):c.1118C>A (p.Ala373Asp)	SNV Germline	Chr12:102843727	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1874694965	1 SubmittersRCV001199986
NM_000277.3(PAH):c.1043T>C (p.Leu348Pro)	SNV Germline	Chr12:102844358	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1874733519	1 SubmittersRCV001199977
NM_000277.3(PAH):c.1027T>A (p.Tyr343Asn)	SNV Germline	Chr12:102844374	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62508651	1 SubmittersRCV001199981
NM_000277.3(PAH):c.970-1G>T	SNV Germline	Chr12:102844432	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_202183605	1 SubmittersRCV001200007
NM_000277.3(PAH):c.970-2A>G	SNV Germline	Chr12:102844433	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62517199	1 SubmittersRCV001200008
NM_000277.3(PAH):c.833C>G (p.Thr278Ser)	SNV Germline	Chr12:102852824	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62507262	1 SubmittersRCV001199979
NM_000277.3(PAH):c.795C>A (p.Cys265Ter)	SNV Germline	Chr12:102852862	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1231529155	1 SubmittersRCV001199984
NM_000277.3(PAH):c.755G>C (p.Arg252Pro)	SNV Germline	Chr12:102852902	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62644503	2 SubmittersRCV001199976
NM_000277.3(PAH):c.676C>A (p.Gln226Lys)	SNV Germline	Chr12:102855166	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62508696	2 SubmittersRCV001199975
NM_000277.3(PAH):c.674C>T (p.Pro225Leu)	SNV Germline	Chr12:102855168	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62517204	1 SubmittersRCV001200014
NM_000277.3(PAH):c.659A>C (p.His220Pro)	SNV Germline	Chr12:102855183	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1592954413	1 SubmittersRCV001200013
NM_000277.3(PAH):c.505C>A (p.Arg169Ser)	SNV Germline	Chr12:102866600	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_281865440	3 SubmittersRCV001199992
NM_000277.3(PAH):c.253A>T (p.Lys85Ter)	SNV Germline	Chr12:102894834	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1877430029	1 SubmittersRCV001199993
NM_000277.3(PAH):c.60+5G>C	SNV Germline	Chr12:102917066	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62514895	1 SubmittersRCV001200018
NM_000277.3(PAH):c.1161C>G (p.Tyr387Ter)	SNV Germline	Chr12:102843684	Pathogenic	Phenylketonuria	Criteria Provided Single Submitter		rs_149595475	1 SubmittersRCV001215227
NM_000277.3(PAH):c.547G>T (p.Glu183Ter)	SNV Germline	Chr12:102855295	Pathogenic	Phenylketonuria	Criteria Provided Single Submitter		rs_199475664	1 SubmittersRCV001223829
NM_000277.3(PAH):c.510T>G (p.His170Gln)	SNV Germline	Chr12:102855332	Pathogenic	Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts		rs_199475652	5 SubmittersRCV001215065
NM_000277.3(PAH):c.1253C>T (p.Thr418Ile)	SNV Germline	Chr12:102840462	Likely pathogenic	Phenylketonuria	Criteria Provided Single Submitter		rs_1874539947	1 SubmittersRCV001207037
NM_000277.3(PAH):c.1238G>A (p.Arg413His)	SNV Germline	Chr12:102840477	Pathogenic/Likely pathogenic	Phenylketonuria	Criteria Provided Multiple Submitters No Conflicts		rs_79931499	3 SubmittersRCV001210291
NM_000277.3(PAH):c.969+2T>G	SNV Germline	Chr12:102846893	Pathogenic	Phenylketonuria	Criteria Provided Single Submitter		rs_1477313214	1 SubmittersRCV001204516
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg)	SNV Germline	Chr12:102843658	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_776178623	3 SubmittersRCV001236942
NM_000277.3(PAH):c.843-5T>C	SNV Germline	Chr12:102851761	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1875163630	3 SubmittersRCV001264614
NM_000277.3(PAH):c.682G>T (p.Glu228Ter)	SNV Germline	Chr12:102855160	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_281865444	1 SubmittersRCV001269044
NM_000277.3(PAH):c.1271T>A (p.Leu424Ter)	SNV Germline	Chr12:102840444	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_199475670	1 SubmittersRCV001269048
NM_000277.3(PAH):c.441+2T>A	SNV Germline	Chr12:102877460	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1876618843	2 SubmittersRCV001269054
NM_000277.3(PAH):c.510-1G>A	SNV Germline	Chr12:102855333	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1875377960	1 SubmittersRCV001269058
NM_000277.3(PAH):c.912+1G>T	SNV Germline	Chr12:102851686	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62514956	1 SubmittersRCV001269059
NM_000277.3(PAH):c.912+1G>C	SNV Germline	Chr12:102851686	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62514956	1 SubmittersRCV001269061
NM_000277.3(PAH):c.209C>T (p.Ser70Phe)	SNV Germline	Chr12:102894878	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1877434368	1 SubmittersRCV001269066
NM_000277.3(PAH):c.1200-3T>G	SNV Germline	Chr12:102840518	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1874550090	1 SubmittersRCV001269067
NM_000277.3(PAH):c.223G>C (p.Asp75His)	SNV Germline	Chr12:102894864	Likely pathogenic	Phenylketonuria 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Propionic acidemia	Reviewed By Expert Panel		rs_767453024	3 SubmittersRCV001269068 RCV004526825 RCV004545164
NM_000277.3(PAH):c.1199+4A>G	SNV Germline	Chr12:102843642	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1471682834	2 SubmittersRCV001269070
NM_000277.3(PAH):c.707-1G>C	SNV Germline	Chr12:102852951	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62507269	1 SubmittersRCV001269073
NM_000277.3(PAH):c.169-1G>A	SNV Germline	Chr12:102894919	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1877439517	1 SubmittersRCV001269074
NM_000277.3(PAH):c.441+2T>G	SNV Germline	Chr12:102877460	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1876618843	1 SubmittersRCV001269075
NM_000277.3(PAH):c.804C>A (p.Tyr268Ter)	SNV Germline	Chr12:102852853	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_748337823	2 SubmittersRCV001269081
NM_000277.3(PAH):c.462C>A (p.Tyr154Ter)	SNV Germline	Chr12:102866643	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1191473722	3 SubmittersRCV001269276
NM_000277.3(PAH):c.364C>T (p.Pro122Ser)	SNV Germline	Chr12:102877539	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1466564208	2 SubmittersRCV001269311
NM_000277.3(PAH):c.1200G>T (p.Arg400Ser)	SNV Germline	Chr12:102840515	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1874549626	1 SubmittersRCV001269313
NM_000277.3(PAH):c.1097C>T (p.Pro366Leu)	SNV Germline	Chr12:102843748	Conflicting classifications of pathogenicity	Condition: not provided Phenylketonuria	Criteria Provided Conflicting Classifications		rs_62516098	2 SubmittersRCV001284319 RCV002537932
NM_000277.3(PAH):c.510-5T>A	SNV Germline	Chr12:102855337	Likely pathogenic	Phenylketonuria	Criteria Provided Single Submitter		rs_1875378128	2 SubmittersRCV001318515
NM_000277.3(PAH):c.1071C>A (p.Cys357Ter)	SNV Germline	Chr12:102843774	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_766107583	1 SubmittersRCV001375888
NM_000277.3(PAH):c.847A>G (p.Ile283Val)	SNV Germline	Chr12:102851752	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_62517168	1 SubmittersRCV001375899
NM_000277.3(PAH):c.843-1G>A	SNV Germline	Chr12:102851757	Pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_1373264140	1 SubmittersRCV001375891
NM_000277.3(PAH):c.679C>G (p.Leu227Val)	SNV Germline	Chr12:102855163	Likely pathogenic	Phenylketonuria	Reviewed By Expert Panel		rs_2136649242	1 SubmittersRCV001375897

SNV
Germline

Chr12:102840399

Pathogenic

Phenylketonuria
Condition: not provided
Inborn genetic diseases
PAH-related disorder

Reviewed By Expert Panel

CA251522

rs_5030861

31 SubmittersRCV000000606 RCV000078510 RCV000622610 RCV003407249

NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)

SNV
Germline

Chr12:102840493

Pathogenic

Phenylketonuria
Condition: not provided
Inborn genetic diseases
See cases
PAH-related disorder

Reviewed By Expert Panel

CA251523

rs_5030858

37 SubmittersRCV000000607 RCV000078507 RCV002512607 RCV004584303 RCV003415607

NM_000277.3(PAH):c.932T>C (p.Leu311Pro)

SNV
Germline

Chr12:102846932

Pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA251524

rs_62642936

9 SubmittersRCV000000608 RCV000089164

NM_000277.3(PAH):c.977G>A (p.Trp326Ter)

SNV
Germline

Chr12:102844424

Pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA229887

rs_62514959

6 SubmittersRCV000000609 RCV000089188

NM_000277.3(PAH):c.838G>A (p.Glu280Lys)

SNV
Germline

Chr12:102852819

Pathogenic

Phenylketonuria
Condition: not provided
Inborn genetic diseases
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

Criteria Provided
Multiple Submitters
No Conflicts

CA251525

rs_62508698

18 SubmittersRCV000000610 RCV000078532 RCV002512608 RCV003162201

NM_000277.3(PAH):c.331C>T (p.Arg111Ter)

SNV
Germline

Chr12:102894756

Pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA251526

rs_76296470

13 SubmittersRCV000000611 RCV000088898

NM_000277.3(PAH):c.782G>A (p.Arg261Gln)

SNV
Germline

Chr12:102852875

Pathogenic

Phenylketonuria
Condition: not provided
PAH-related disorder

Reviewed By Expert Panel

CA251528

rs_5030849

30 SubmittersRCV000000612 RCV000078530 RCV003904790

NM_000277.3(PAH):c.261C>A (p.Ser87Arg)

SNV
Germline

Chr12:102894826

Pathogenic/Likely pathogenic

Hyperphenylalaninemia
Condition: not provided
Phenylketonuria
Inborn genetic diseases
PAH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA114359

rs_62516151

12 SubmittersRCV000000613 RCV000088884 RCV000763293 RCV002512609 RCV003934787

NM_000277.3(PAH):c.754C>T (p.Arg252Trp)

SNV
Germline

Chr12:102852903

Pathogenic

Phenylketonuria
Condition: not provided
Pulmonary hypertension, primary, 1
See cases

Reviewed By Expert Panel

CA251529

rs_5030847

17 SubmittersRCV000000614 RCV000089079 RCV003984797 RCV002251844

NM_000277.3(PAH):c.1A>G (p.Met1Val)

SNV
Germline

Chr12:102917130

Pathogenic

Phenylketonuria
Hyperphenylalaninemia
Condition: not provided

Reviewed By Expert Panel

CA114360

rs_62514891

9 SubmittersRCV000000616 RCV000000617 RCV000088868

NM_000277.3(PAH):c.473G>A (p.Arg158Gln)

SNV
Germline

Chr12:102866632

Pathogenic

Phenylketonuria
Condition: not provided
PAH-related disorder

Reviewed By Expert Panel

CA251530

rs_5030843

22 SubmittersRCV000000618 RCV000078522 RCV003415608

NM_000277.3(PAH):c.727C>T (p.Arg243Ter)

SNV
Germline

Chr12:102852930

Pathogenic

Phenylketonuria
Condition: not provided
Inborn genetic diseases
PAH-related disorder

Reviewed By Expert Panel

CA220585

rs_5030846

18 SubmittersRCV000000619 RCV000078528 RCV002512610 RCV003407250

NM_000277.3(PAH):c.842C>T (p.Pro281Leu)

SNV
Germline

Chr12:102852815

Likely pathogenic

Phenylketonuria
Condition: not provided
Inborn genetic diseases
PAH-related disorder

Reviewed By Expert Panel

CA220589

rs_5030851

26 SubmittersRCV000000620 RCV000078534 RCV001265833 RCV003914790

NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)

SNV
Germline

Chr12:102855231

Pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA229653

rs_62514927

10 SubmittersRCV000000621 RCV000089007

NM_000277.3(PAH):c.728G>A (p.Arg243Gln)

SNV
Germline

Chr12:102852929

Pathogenic/Likely pathogenic

Phenylketonuria
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA251531

rs_62508588

18 SubmittersRCV000000622 RCV000089059 RCV000624337

NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)

SNV
Germline

Chr12:102840477

Pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA229414

rs_79931499

10 SubmittersRCV000000623 RCV000088813

NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)

SNV
Germline

Chr12:102840474

Pathogenic

Hyperphenylalaninemia
Condition: not provided
Phenylketonuria
See cases
PAH-related disorder

Reviewed By Expert Panel

CA114362

rs_5030860

29 SubmittersRCV000000624 RCV000078508 RCV000150074 RCV004584304 RCV003398401

NM_000277.3(PAH):c.442-1G>A

SNV
Germline

Chr12:102866664

Pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA229550

rs_62514907

9 SubmittersRCV000000625 RCV000088924

NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)

SNV
Germline

Chr12:102843777

Pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA229327

rs_62516095

9 SubmittersRCV000000626 RCV000088745

NM_000277.3(PAH):c.814G>T (p.Gly272Ter)

SNV
Germline

Chr12:102852843

Pathogenic

Phenylketonuria
Condition: not provided
PAH-related disorder

Reviewed By Expert Panel

CA251532

rs_62514952

18 SubmittersRCV000000627 RCV000089110 RCV003914791

NM_000277.3(PAH):c.818C>T (p.Ser273Phe)

SNV
Germline

Chr12:102852839

Likely pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA229785

rs_62514953

6 SubmittersRCV000000629 RCV000089111

NM_000277.3(PAH):c.842+1G>A

SNV
Germline

Chr12:102852814

Pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA229811

rs_5030852

16 SubmittersRCV000000630 RCV000089129

NM_000277.3(PAH):c.764T>C (p.Leu255Ser)

SNV
Germline

Chr12:102852893

Pathogenic/Likely pathogenic

Phenylketonuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA229747

rs_62642930

4 SubmittersRCV000000631 RCV000089083

NM_000277.3(PAH):c.1197A>T (p.Val399=)

SNV
Germline

Chr12:102843648

Pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA229379

rs_199475584

11 SubmittersRCV000000632 RCV000088786

NM_000277.3(PAH):c.776C>T (p.Ala259Val)

SNV
Germline

Chr12:102852881

Pathogenic/Likely pathogenic

Phenylketonuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA229756

rs_118203921

6 SubmittersRCV000000633 RCV000089089

NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)

SNV
Germline

Chr12:102852828

Pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA251534

rs_78655458

13 SubmittersRCV000000634 RCV000078531

NM_000277.3(PAH):c.117C>G (p.Phe39Leu)

SNV
Germline

Chr12:102912842

Pathogenic

Phenylketonuria
Condition: not provided
PAH-related disorder
Inborn genetic diseases

Reviewed By Expert Panel

CA251537

rs_62642926

20 SubmittersRCV000000636 RCV000078504 RCV003904791 RCV004018527

NM_000277.3(PAH):c.1066-11G>A

SNV
Germline

Chr12:102843790

Pathogenic

Phenylketonuria
Condition: not provided
Inborn genetic diseases

Reviewed By Expert Panel

CA251538

rs_5030855

29 SubmittersRCV000000638 RCV000078500 RCV002512611

NM_000277.3(PAH):c.143T>C (p.Leu48Ser)

SNV
Germline

Chr12:102912816

Pathogenic

Phenylketonuria
Condition: not provided
Inborn genetic diseases
PAH-related disorder

Reviewed By Expert Panel

CA251539

rs_5030841

21 SubmittersRCV000000639 RCV000078511 RCV002512612 RCV003421890

NM_000277.3(PAH):c.662A>G (p.Glu221Gly)

SNV
Germline

Chr12:102855180

Likely pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA229677

rs_62514934

4 SubmittersRCV000000640 RCV000089024

NM_000277.3(PAH):c.781C>T (p.Arg261Ter)

SNV
Germline

Chr12:102852876

Pathogenic

Phenylketonuria
Condition: not provided
Pulmonary hypertension, primary, 1

Reviewed By Expert Panel

CA229757

rs_5030850

18 SubmittersRCV000000641 RCV000089090 RCV003984798

NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)

SNV
Germline

Chr12:102840492

Pathogenic

Phenylketonuria
Condition: not provided
PAH-related disorder

Reviewed By Expert Panel

CA229404

rs_5030859

16 SubmittersRCV000000643 RCV000088806 RCV003934788

NM_000277.3(PAH):c.896T>G (p.Phe299Cys)

SNV
Germline

Chr12:102851703

Pathogenic

Phenylketonuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251541

rs_62642933

14 SubmittersRCV000000644 RCV000089148

NM_000277.3(PAH):c.842+2T>A

SNV
Germline

Chr12:102852813

Pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA229813

rs_62514955

5 SubmittersRCV000000645 RCV000089131

NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)

SNV
Germline

Chr12:102844356

Pathogenic/Likely pathogenic

Phenylketonuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251542

rs_62508646

12 SubmittersRCV000000646 RCV000078499

NM_000277.3(PAH):c.965C>G (p.Ala322Gly)

SNV
Germline

Chr12:102846899

Likely pathogenic

Mild non-PKU hyperphenylalanemia
Condition: not provided
Phenylketonuria
See cases

Reviewed By Expert Panel

CA114363

rs_62514958

8 SubmittersRCV000000647 RCV000089177 RCV000675108 RCV002251845

NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)

SNV
Germline

Chr12:102840472

Pathogenic

Hyperphenylalaninemia
Phenylketonuria
Condition: not provided
PAH-related disorder

Reviewed By Expert Panel

CA114364

rs_62644499

17 SubmittersRCV000000648 RCV000401074 RCV000088815 RCV003415609

NM_000277.3(PAH):c.916A>G (p.Ile306Val)

SNV
Germline

Chr12:102846948

Pathogenic

Hyperphenylalaninemia
Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA114365

rs_62642934

10 SubmittersRCV000000649 RCV000089157 RCV000169485

NM_000277.3(PAH):c.1162G>A (p.Val388Met)

SNV
Germline

Chr12:102843683

Pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA251543

rs_62516101

13 SubmittersRCV000000650 RCV000088774

NM_000277.3(PAH):c.731C>T (p.Pro244Leu)

SNV
Germline

Chr12:102852926

Likely pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA229721

rs_118203923

3 SubmittersRCV000000652 RCV000089061

NM_000277.3(PAH):c.3G>A (p.Met1Ile)

SNV
Germline

Chr12:102917128

Pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA229532

rs_62514893

4 SubmittersRCV000000653 RCV000088911

NM_000277.3(PAH):c.1066-3C>T

SNV
Germline

Chr12:102843782

Pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA229324

rs_62507344

12 SubmittersRCV000000654 RCV000088742

NM_000277.3(PAH):c.997C>T (p.Leu333Phe)

SNV
Germline

Chr12:102844404

Pathogenic

Hyperphenylalaninemia
Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA114366

rs_62516060

6 SubmittersRCV000000655 RCV000089195 RCV002259565

NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)

SNV
Germline

Chr12:102843676

Pathogenic

Phenylketonuria
Hyperphenylalaninemia
Condition: not provided
PAH-related disorder
Mild hyperphenylalaninemia

Reviewed By Expert Panel

CA114367

rs_5030856

20 SubmittersRCV000000657 RCV000000656 RCV000078503 RCV003914792 RCV003993726

NM_000277.3(PAH):c.1076C>G (p.Ser359Ter)

SNV
Germline

Chr12:102843769

Pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA229330

rs_5030854

4 SubmittersRCV000000658 RCV000088747

NM_000277.3(PAH):c.293T>C (p.Leu98Ser)

SNV
Germline

Chr12:102894794

Likely pathogenic

Mild non-PKU hyperphenylalanemia
Condition: not provided
Phenylketonuria
not specified
PAH-related disorder

Reviewed By Expert Panel

CA114368

rs_62517167

10 SubmittersRCV000000659 RCV000088892 RCV000675074 RCV003323344 RCV003914793

NM_000277.3(PAH):c.1139C>T (p.Thr380Met)

SNV
Germline

Chr12:102843706

Pathogenic

Hyperphenylalaninemia
Condition: not provided
Phenylketonuria
Marfanoid habitus and intellectual disability
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Inborn genetic diseases
PAH-related disorder

Reviewed By Expert Panel

CA114369

rs_62642937

32 SubmittersRCV000000660 RCV000078502 RCV000150077 RCV000850463 RCV001280537 RCV003258654 RCV003390629

NM_000277.3(PAH):c.136G>A (p.Gly46Ser)

SNV
Germline

Chr12:102912823

Pathogenic

Phenylketonuria
Condition: not provided
Inborn genetic diseases

Reviewed By Expert Panel

CA229439

rs_74603784

9 SubmittersRCV000000661 RCV000088836 RCV002512613

NM_000277.3(PAH):c.140C>T (p.Ala47Val)

SNV
Germline

Chr12:102912819

Likely pathogenic

Hyperphenylalaninemia
Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA114370

rs_118203925

6 SubmittersRCV000000662 RCV000088839 RCV001200011

NM_000277.3(PAH):c.527G>T (p.Arg176Leu)

SNV
Germline

Chr12:102855315

Pathogenic

Hyperphenylalaninemia
Condition: not provided
Phenylketonuria
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Inborn genetic diseases
See cases

Reviewed By Expert Panel

CA114371

rs_74486803

15 SubmittersRCV000000663 RCV000088974 RCV000346024 RCV001280536 RCV002512614 RCV002251846

NM_000277.3(PAH):c.734T>C (p.Val245Ala)

SNV
Germline

Chr12:102852923

Pathogenic

Hyperphenylalaninemia
Condition: not provided
Phenylketonuria
Inborn genetic diseases

Reviewed By Expert Panel

CA114372

rs_76212747

21 SubmittersRCV000000664 RCV000089065 RCV000346938 RCV002512615

NM_000277.3(PAH):c.1065+3A>G

SNV
Germline

Chr12:102844333

Likely pathogenic

Hyperphenylalaninemia
Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA212751

rs_62508689

5 SubmittersRCV000000665 RCV000088736 RCV000758111

NM_000277.3(PAH):c.1220C>T (p.Pro407Leu)

SNV
Germline

Chr12:102840495

Likely pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA229402

rs_62644473

4 SubmittersRCV000000667 RCV000088804

NM_000277.3(PAH):c.194T>C (p.Ile65Thr)

SNV
Germline

Chr12:102894893

Pathogenic

Phenylketonuria
Condition: not provided
See cases
PAH-related disorder
Inborn genetic diseases

Reviewed By Expert Panel

CA251544

rs_75193786

27 SubmittersRCV000000668 RCV000078516 RCV002251847 RCV003398402 RCV004018528

NM_000277.3(PAH):c.227A>G (p.Glu76Gly)

SNV
Germline

Chr12:102894860

Pathogenic/Likely pathogenic

Hyperphenylalaninemia
Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA114373

rs_62507347

5 SubmittersRCV000000671 RCV000088878 RCV000672628

NM_000277.3(PAH):c.1042C>G (p.Leu348Val)

SNV
Germline

Chr12:102844359

Pathogenic

Condition: not provided
Phenylketonuria
See cases
Inborn genetic diseases
PAH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220576

rs_62516092

18 SubmittersRCV000078498 RCV000150080 RCV002251963 RCV002514381 RCV003944994

NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)

SNV
Germline

Chr12:102843777

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA273107

rs_62516095

10 SubmittersRCV000078501 RCV000150078

NM_000277.3(PAH):c.1200-1G>A

SNV
Germline

Chr12:102840516

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA220577

rs_62507322

6 SubmittersRCV000078505 RCV001201306

NM_000277.3(PAH):c.1208C>T (p.Ala403Val)

SNV
Germline

Chr12:102840507

Pathogenic

Condition: not provided
Phenylketonuria
Inborn genetic diseases
PAH-related disorder

Reviewed By Expert Panel

CA273106

rs_5030857

38 SubmittersRCV000078506 RCV000150075 RCV000622360 RCV003915048

NM_000277.3(PAH):c.165T>G (p.Phe55Leu)

SNV
Germline

Chr12:102912794

Pathogenic/Likely pathogenic

Phenylketonuria
Condition: not provided
See cases
Hyperphenylalaninemia

Criteria Provided
Multiple Submitters
No Conflicts

CA273114

rs_199475598

15 SubmittersRCV000150092 RCV000078512 RCV002251964 RCV000588067

NM_000277.3(PAH):c.204A>T (p.Arg68Ser)

SNV
Germline

Chr12:102894883

Pathogenic

Condition: not provided
Phenylketonuria
PAH-related disorder

Reviewed By Expert Panel

CA273113

rs_76394784

12 SubmittersRCV000078517 RCV000150091 RCV003398669

NM_000277.3(PAH):c.355C>T (p.Pro119Ser)

SNV
Germline

Chr12:102877548

Likely pathogenic

Phenylketonuria
Condition: not provided
Inborn genetic diseases

Reviewed By Expert Panel

CA220582

rs_398123292

12 SubmittersRCV000178066 RCV000790751 RCV004019527

NM_000277.3(PAH):c.441+5G>T

SNV
Germline

Chr12:102877457

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA273112

rs_62507321

15 SubmittersRCV000078521 RCV000150089

NM_000277.3(PAH):c.500A>T (p.Asn167Ile)

SNV
Germline

Chr12:102866605

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA220584

rs_77554925

9 SubmittersRCV000078523 RCV000412232

NM_000277.3(PAH):c.508C>G (p.His170Asp)

SNV
Germline

Chr12:102866597

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA273111

rs_199475655

7 SubmittersRCV000078524 RCV000150088

NM_000277.3(PAH):c.533A>G (p.Glu178Gly)

SNV
Germline

Chr12:102855309

Pathogenic

Condition: not provided
Phenylketonuria
Inborn genetic diseases

Reviewed By Expert Panel

CA273110

rs_77958223

15 SubmittersRCV000078526 RCV000150087 RCV004019528

NM_000277.3(PAH):c.638T>C (p.Leu213Pro)

SNV
Germline

Chr12:102855204

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA273109

rs_62516109

11 SubmittersRCV000078527 RCV000150086

NM_000277.3(PAH):c.841C>T (p.Pro281Ser)

SNV
Germline

Chr12:102852816

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA220587

rs_199475654

3 SubmittersRCV000078533 RCV000721177

NM_000277.3(PAH):c.890G>A (p.Arg297His)

SNV
Germline

Chr12:102851709

Pathogenic

Condition: not provided
Phenylketonuria
Hyperphenylalaninemia

Reviewed By Expert Panel

CA220590

rs_62642939

11 SubmittersRCV000078535 RCV000150085 RCV000588535

NM_000277.3(PAH):c.898G>T (p.Ala300Ser)

SNV
Germline

Chr12:102851701

Pathogenic

Condition: not provided
Phenylketonuria
Hyperphenylalaninemia
Inborn genetic diseases

Reviewed By Expert Panel

CA273108

rs_5030853

31 SubmittersRCV000078536 RCV000150084 RCV000590551 RCV001267463

NM_000277.3(PAH):c.912+1G>A

SNV
Germline

Chr12:102851686

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA220591

rs_62514956

9 SubmittersRCV000078537 RCV000150083

NM_000277.3(PAH):c.926C>T (p.Ala309Val)

SNV
Germline

Chr12:102846938

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA220592

rs_62642935

9 SubmittersRCV000078538 RCV000150082

NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)

SNV
Germline

Chr12:102844427

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA220593

rs_62508578

6 SubmittersRCV000078541 RCV000150081

NM_000277.3(PAH):c.1006C>T (p.Gln336Ter)

SNV
Germline

Chr12:102844395

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229264

rs_62516061

2 SubmittersRCV000088696 RCV002259580

NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr)

SNV
Germline

Chr12:102844389

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229269

rs_62516150

6 SubmittersRCV000088699 RCV000794431

NM_000277.3(PAH):c.1021A>T (p.Lys341Ter)

SNV
Germline

Chr12:102844380

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229272

rs_62517200

2 SubmittersRCV000088701 RCV002259581

NM_000277.3(PAH):c.1024G>A (p.Ala342Thr)

SNV
Germline

Chr12:102844377

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229276

rs_62507282

3 SubmittersRCV000088704 RCV001386152

NM_000277.3(PAH):c.1024G>C (p.Ala342Pro)

SNV
Germline

Chr12:102844377

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229277

rs_62507282

3 SubmittersRCV000088705 RCV003330433

NM_000277.3(PAH):c.1027T>G (p.Tyr343Asp)

SNV
Germline

Chr12:102844374

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229280

rs_62508651

2 SubmittersRCV000088707 RCV001200017

NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys)

SNV
Germline

Chr12:102844373

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229282

rs_62507265

5 SubmittersRCV000088708 RCV001194126

NM_000277.3(PAH):c.1030G>A (p.Gly344Ser)

SNV
Germline

Chr12:102844371

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229285

rs_62508679

3 SubmittersRCV000088710 RCV001379649

NM_000277.3(PAH):c.1031G>A (p.Gly344Asp)

SNV
Germline

Chr12:102844370

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229288

rs_62508582

3 SubmittersRCV000088712 RCV001543654

NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)

SNV
Germline

Chr12:102844368

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229291

rs_62516062

5 SubmittersRCV000088714 RCV000490440

NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)

SNV
Germline

Chr12:102844368

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA286497

rs_62516062

11 SubmittersRCV000088715 RCV000586982

NM_000277.3(PAH):c.1045T>G (p.Ser349Ala)

SNV
Germline

Chr12:102844356

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229298

rs_62508646

3 SubmittersRCV000088721 RCV001386151

NM_000277.3(PAH):c.1046C>A (p.Ser349Ter)

SNV
Germline

Chr12:102844355

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229300

rs_62507279

2 SubmittersRCV000088722 RCV001200004

NM_000277.3(PAH):c.1046C>T (p.Ser349Leu)

SNV
Germline

Chr12:102844355

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229302

rs_62507279

2 SubmittersRCV000088723 RCV001040702

NM_000277.3(PAH):c.1048T>A (p.Ser350Thr)

SNV
Germline

Chr12:102844353

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229304

rs_62517183

2 SubmittersRCV000088725 RCV001543633

NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr)

SNV
Germline

Chr12:102844352

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229305

rs_62508628

3 SubmittersRCV000088726 RCV002498473

NM_000277.3(PAH):c.1054G>C (p.Gly352Arg)

SNV
Germline

Chr12:102844347

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229307

rs_62508686

2 SubmittersRCV000088727 RCV001543661

NM_000277.3(PAH):c.1054G>T (p.Gly352Cys)

SNV
Germline

Chr12:102844347

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229309

rs_62508686

4 SubmittersRCV000088728 RCV002514541

NM_000277.3(PAH):c.1063C>T (p.Gln355Ter)

SNV
Germline

Chr12:102844338

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229313

rs_199475633

3 SubmittersRCV000088731 RCV001234044

NM_000277.3(PAH):c.1065+1G>A

SNV
Germline

Chr12:102844335

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229315

rs_62516147

4 SubmittersRCV000088732 RCV000411856

NM_000277.3(PAH):c.1066-14C>G

SNV
Germline

Chr12:102843793

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229321

rs_62507334

5 SubmittersRCV000088739 RCV001375895

NM_000277.3(PAH):c.1066-1G>A

SNV
Germline

Chr12:102843780

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229322

rs_62508684

3 SubmittersRCV000088740 RCV001199985

NM_000277.3(PAH):c.1069T>G (p.Cys357Gly)

SNV
Germline

Chr12:102843776

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229329

rs_62508595

2 SubmittersRCV000088746 RCV001199978

NM_000277.3(PAH):c.1084C>A (p.Pro362Thr)

SNV
Germline

Chr12:102843761

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229332

rs_62507329

3 SubmittersRCV000088748 RCV002514542

NM_000277.3(PAH):c.1097C>A (p.Pro366His)

SNV
Germline

Chr12:102843748

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229341

rs_62516098

6 SubmittersRCV000088754 RCV000672118

NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)

SNV
Germline

Chr12:102843731

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229350

rs_62517163

6 SubmittersRCV000088761 RCV000306209

NM_000277.3(PAH):c.1117G>A (p.Ala373Thr)

SNV
Germline

Chr12:102843728

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229351

rs_62508717

3 SubmittersRCV000088762 RCV002259583

NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys)

SNV
Germline

Chr12:102843715

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229357

rs_62642942

3 SubmittersRCV000088767 RCV002259584

NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp)

SNV
Germline

Chr12:102843689

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229361

rs_199475691

3 SubmittersRCV000088770 RCV001239036

NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)

SNV
Germline

Chr12:102843688

Pathogenic

Condition: not provided
Phenylketonuria
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

Reviewed By Expert Panel

CA274152

rs_62516141

9 SubmittersRCV000088771 RCV000169306 RCV003162523

NM_000277.3(PAH):c.1159T>C (p.Tyr387His)

SNV
Germline

Chr12:102843686

Likely pathogenic

Condition: not provided
Phenylketonuria
Malignant tumor of breast

Reviewed By Expert Panel

CA229363

rs_62517194

5 SubmittersRCV000088772 RCV001789754 RCV004542806

NM_000277.3(PAH):c.1162G>C (p.Val388Leu)

SNV
Germline

Chr12:102843683

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229366

rs_62516101

3 SubmittersRCV000088775 RCV001269277

NM_000277.3(PAH):c.1180G>C (p.Asp394His)

SNV
Germline

Chr12:102843665

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229371

rs_62516142

6 SubmittersRCV000088779 RCV000714571

NM_000277.3(PAH):c.1181A>C (p.Asp394Ala)

SNV
Germline

Chr12:102843664

Likely pathogenic

Condition: not provided
Phenylketonuria
not specified

Reviewed By Expert Panel

CA229372

rs_62516102

4 SubmittersRCV000088780 RCV001789755 RCV003323399

NM_000277.3(PAH):c.1183G>C (p.Ala395Pro)

SNV
Germline

Chr12:102843662

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229373

rs_62516103

5 SubmittersRCV000088781 RCV000781679

NM_000277.3(PAH):c.1184C>A (p.Ala395Asp)

SNV
Germline

Chr12:102843661

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229374

rs_62508736

2 SubmittersRCV000088782 RCV002509213

NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)

SNV
Germline

Chr12:102843661

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA286498

rs_62508736

9 SubmittersRCV000088783 RCV000410586

NM_000277.3(PAH):c.1194A>G (p.Lys398=)

SNV
Germline

Chr12:102843651

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229376

rs_199475638

4 SubmittersRCV000088784 RCV001269042

NM_000277.3(PAH):c.1198A>C (p.Arg400=)

SNV
Germline

Chr12:102843647

Conflicting classifications of pathogenicity

Condition: not provided
Phenylketonuria
not specified

Criteria Provided
Conflicting Classifications

CA229381

rs_199475593

5 SubmittersRCV000088787 RCV000671619 RCV003479000

NM_000277.3(PAH):c.1199+17G>A

SNV
Germline

Chr12:102843629

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229384

rs_62508613

8 SubmittersRCV000088789 RCV000316500

NM_000277.3(PAH):c.1199+1G>A

SNV
Germline

Chr12:102843645

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229385

rs_62509015

6 SubmittersRCV000088790 RCV000632882

NM_000277.3(PAH):c.1199+1G>C

SNV
Germline

Chr12:102843645

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA274088

rs_62509015

11 SubmittersRCV000088791 RCV000169248

NM_000277.3(PAH):c.1199+20G>C

SNV
Germline

Chr12:102843626

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229386

rs_62509018

2 SubmittersRCV000088792 RCV002513932

NM_000277.3(PAH):c.1199+5G>T

SNV
Germline

Chr12:102843641

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229388

rs_62508674

2 SubmittersRCV000088794 RCV001269037

NM_000277.3(PAH):c.1199G>A (p.Arg400Lys)

SNV
Germline

Chr12:102843646

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229389

rs_199475658

3 SubmittersRCV000088795 RCV000672156

NM_000277.3(PAH):c.1199G>C (p.Arg400Thr)

SNV
Germline

Chr12:102843646

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229391

rs_199475658

4 SubmittersRCV000088796 RCV001543634

NM_000277.3(PAH):c.1200-8G>A

SNV
Germline

Chr12:102840523

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229395

rs_62507261

5 SubmittersRCV000088799 RCV000525956

NM_000277.3(PAH):c.1217T>C (p.Ile406Thr)

SNV
Germline

Chr12:102840498

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229398

rs_62644469

2 SubmittersRCV000088801 RCV000758128

NM_000277.3(PAH):c.1219C>T (p.Pro407Ser)

SNV
Germline

Chr12:102840496

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229400

rs_62644465

3 SubmittersRCV000088802 RCV000672236

NM_000277.3(PAH):c.121C>T (p.Leu41Phe)

SNV
Germline

Chr12:102912838

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229401

rs_62642928

3 SubmittersRCV000088803 RCV000697659

NM_000277.3(PAH):c.1229T>G (p.Phe410Cys)

SNV
Germline

Chr12:102840486

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229406

rs_62644475

3 SubmittersRCV000088808 RCV001269318

NM_000277.3(PAH):c.1232C>A (p.Ser411Ter)

SNV
Germline

Chr12:102840483

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229409

rs_62644477

2 SubmittersRCV000088810 RCV002509216

NM_000277.3(PAH):c.1237C>A (p.Arg413Ser)

SNV
Germline

Chr12:102840478

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229411

rs_62644467

3 SubmittersRCV000088811 RCV001380994

NM_000277.3(PAH):c.1252A>C (p.Thr418Pro)

SNV
Germline

Chr12:102840463

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229418

rs_62644501

5 SubmittersRCV000088818 RCV000672448

NM_000277.3(PAH):c.125A>T (p.Lys42Ile)

SNV
Germline

Chr12:102912834

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229419

rs_62635346

2 SubmittersRCV000088819 RCV000993605

NM_000277.3(PAH):c.1262T>C (p.Ile421Thr)

SNV
Germline

Chr12:102840453

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229420

rs_199475696

4 SubmittersRCV000088820 RCV001388783

NM_000277.3(PAH):c.1289T>C (p.Leu430Pro)

SNV
Germline

Chr12:102840426

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229426

rs_199475607

2 SubmittersRCV000088824 RCV001789756

NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)

SNV
Germline

Chr12:102840414

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229427

rs_199475659

6 SubmittersRCV000088825 RCV000169393

NM_000277.3(PAH):c.1315+2T>C

SNV
Germline

Chr12:102840398

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229429

rs_1799970

7 SubmittersRCV000088827 RCV000169029

NM_000277.3(PAH):c.1315+4A>G

SNV
Germline

Chr12:102840396

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229430

rs_62508649

5 SubmittersRCV000088828 RCV000672561

NM_000277.3(PAH):c.1315+6T>A

SNV
Germline

Chr12:102840394

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229431

rs_62508650

6 SubmittersRCV000088829 RCV000668481

NM_000277.3(PAH):c.1340C>A (p.Ala447Asp)

SNV
Germline

Chr12:102839194

Pathogenic

Condition: not provided
Phenylketonuria
PAH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA229437

rs_76542238

8 SubmittersRCV000088834 RCV000632880 RCV003407485

NM_000277.3(PAH):c.155T>C (p.Leu52Ser)

SNV
Germline

Chr12:102912804

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229443

rs_199475630

4 SubmittersRCV000088840 RCV001389300

NM_000277.3(PAH):c.157C>T (p.Arg53Cys)

SNV
Germline

Chr12:102912802

Likely pathogenic

Condition: not provided
Phenylketonuria
not specified

Reviewed By Expert Panel

CA229445

rs_199475619

6 SubmittersRCV000088841 RCV000664566 RCV002281929

NM_000277.3(PAH):c.161T>C (p.Leu54Ser)

SNV
Germline

Chr12:102912798

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229448

rs_199475677

3 SubmittersRCV000088843 RCV000669099

NM_000277.3(PAH):c.168+1G>A

SNV
Germline

Chr12:102912790

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229452

rs_62514898

6 SubmittersRCV000088846 RCV000169163

NM_000277.3(PAH):c.168+5G>A

SNV
Germline

Chr12:102912786

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229453

rs_62507288

5 SubmittersRCV000088847 RCV000666582

NM_000277.3(PAH):c.168+5G>C

SNV
Germline

Chr12:102912786

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229454

rs_62507288

12 SubmittersRCV000088848 RCV000350592

NM_000277.3(PAH):c.168G>T (p.Glu56Asp)

SNV
Germline

Chr12:102912791

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229459

rs_199475567

3 SubmittersRCV000088852 RCV001543635

NM_000277.3(PAH):c.169-13T>G

SNV
Germline

Chr12:102894931

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229460

rs_62507341

6 SubmittersRCV000088853 RCV000778351

NM_000277.3(PAH):c.181A>G (p.Asn61Asp)

SNV
Germline

Chr12:102894906

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229470

rs_199475651

2 SubmittersRCV000088859 RCV001389299

NM_000277.3(PAH):c.183C>G (p.Asn61Lys)

SNV
Germline

Chr12:102894904

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229471

rs_199475634

3 SubmittersRCV000088860 RCV001199974

NM_000277.3(PAH):c.193A>G (p.Ile65Val)

SNV
Germline

Chr12:102894894

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229478

rs_199475643

5 SubmittersRCV000088864 RCV000803656

NM_000277.3(PAH):c.194T>A (p.Ile65Asn)

SNV
Germline

Chr12:102894893

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229479

rs_75193786

2 SubmittersRCV000088865 RCV000758100

NM_000277.3(PAH):c.199T>C (p.Ser67Pro)

SNV
Germline

Chr12:102894888

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229481

rs_5030842

5 SubmittersRCV000088867 RCV001260324

NM_000277.3(PAH):c.1A>T (p.Met1Leu)

SNV
Germline

Chr12:102917130

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229482

rs_62514891

3 SubmittersRCV000088869 RCV000993611

NM_000277.3(PAH):c.202A>G (p.Arg68Gly)

SNV
Germline

Chr12:102894885

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229484

rs_199475639

2 SubmittersRCV000088870 RCV001543636

NM_000277.3(PAH):c.205C>T (p.Pro69Ser)

SNV
Germline

Chr12:102894882

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229486

rs_199475678

3 SubmittersRCV000088871 RCV003315609

NM_000277.3(PAH):c.208T>C (p.Ser70Pro)

SNV
Germline

Chr12:102894879

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229488

rs_63048261

2 SubmittersRCV000088874 RCV002259586

NM_000277.3(PAH):c.212G>A (p.Arg71His)

SNV
Germline

Chr12:102894875

Likely pathogenic

Condition: not provided
Phenylketonuria
Familial multiple polyposis syndrome
PAH-related disorder

Reviewed By Expert Panel

CA286499

rs_62508695

10 SubmittersRCV000088876 RCV000672919 RCV004525871 RCV003407486

NM_000277.3(PAH):c.227A>C (p.Glu76Ala)

SNV
Germline

Chr12:102894860

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229492

rs_62507347

2 SubmittersRCV000088877 RCV001389298

NM_000277.3(PAH):c.231T>G (p.Tyr77Ter)

SNV
Germline

Chr12:102894856

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229493

rs_62507332

2 SubmittersRCV000088879 RCV003479001

NM_000277.3(PAH):c.232G>A (p.Glu78Lys)

SNV
Germline

Chr12:102894855

Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229495

rs_62507326

2 SubmittersRCV000088880 RCV001857429

NM_000277.3(PAH):c.241A>C (p.Thr81Pro)

SNV
Germline

Chr12:102894846

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229497

rs_62509017

5 SubmittersRCV000088881 RCV001192889

NM_000277.3(PAH):c.250G>T (p.Asp84Tyr)

SNV
Germline

Chr12:102894837

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229500

rs_62514902

7 SubmittersRCV000088883 RCV000761308

NM_000277.3(PAH):c.265C>T (p.Pro89Ser)

SNV
Germline

Chr12:102894822

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229501

rs_62507270

2 SubmittersRCV000088886 RCV001857430

NM_000277.3(PAH):c.275C>T (p.Thr92Ile)

SNV
Germline

Chr12:102894812

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229504

rs_62514903

3 SubmittersRCV000088888 RCV001854512

NM_000277.3(PAH):c.281T>G (p.Ile94Ser)

SNV
Germline

Chr12:102894806

Conflicting classifications of pathogenicity

Condition: not provided
Phenylketonuria

Criteria Provided
Conflicting Classifications

CA229505

rs_62508677

3 SubmittersRCV000088889 RCV000673537

NM_000277.3(PAH):c.283A>T (p.Ile95Phe)

SNV
Germline

Chr12:102894804

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229507

rs_62508682

6 SubmittersRCV000088890 RCV000763292

NM_000277.3(PAH):c.2T>G (p.Met1Arg)

SNV
Germline

Chr12:102917129

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229509

rs_62508575

2 SubmittersRCV000088893 RCV000993612

NM_000277.3(PAH):c.305T>C (p.Ile102Thr)

SNV
Germline

Chr12:102894782

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229511

rs_62508591

3 SubmittersRCV000088894 RCV001580454

NM_000277.3(PAH):c.30C>G (p.Gly10=)

SNV
Germline

Chr12:102917101

Conflicting classifications of pathogenicity

Condition: not provided
Phenylketonuria
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA229513

rs_1801145

11 SubmittersRCV000088895 RCV000779088 RCV001844038 RCV002321585

NM_000277.3(PAH):c.311C>A (p.Ala104Asp)

SNV
Germline

Chr12:102894776

Pathogenic

Condition: not provided
Phenylketonuria
PAH-related disorder

Reviewed By Expert Panel

CA229515

rs_62642929

15 SubmittersRCV000088896 RCV000349567 RCV003915115

NM_000277.3(PAH):c.329C>T (p.Ser110Leu)

SNV
Germline

Chr12:102894758

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229516

rs_199475627

2 SubmittersRCV000088897 RCV002259587

NM_000277.3(PAH):c.352+1G>A

SNV
Germline

Chr12:102894734

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229519

rs_199475684

4 SubmittersRCV000088900 RCV002509218

NM_000277.3(PAH):c.353-6T>A

SNV
Germline

Chr12:102877556

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229521

rs_62517195

2 SubmittersRCV000088902 RCV001269055

NM_000277.3(PAH):c.359G>A (p.Trp120Ter)

SNV
Germline

Chr12:102877544

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229522

rs_199475586

2 SubmittersRCV000088903 RCV001199994

NM_000277.3(PAH):c.365C>A (p.Pro122Gln)

SNV
Germline

Chr12:102877538

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229524

rs_199475622

3 SubmittersRCV000088904 RCV001384288

NM_000277.3(PAH):c.385G>T (p.Asp129Tyr)

SNV
Germline

Chr12:102877518

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA286503

rs_199475606

5 SubmittersRCV000088907 RCV000811501

NM_000277.3(PAH):c.386A>G (p.Asp129Gly)

SNV
Germline

Chr12:102877517

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229527

rs_199475623

6 SubmittersRCV000088908 RCV000672629

NM_000277.3(PAH):c.400C>T (p.Gln134Ter)

SNV
Germline

Chr12:102877503

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229534

rs_199475680

4 SubmittersRCV000088912 RCV000169559

NM_000277.3(PAH):c.428A>G (p.Asp143Gly)

SNV
Germline

Chr12:102877475

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229538

rs_199475572

4 SubmittersRCV000088914 RCV001209954

NM_000277.3(PAH):c.434A>T (p.Asp145Val)

SNV
Germline

Chr12:102877469

Likely pathogenic

Condition: not provided
Phenylketonuria
See cases
PAH-related disorder

Reviewed By Expert Panel

CA229539

rs_140175796

12 SubmittersRCV000088915 RCV000546355 RCV002251980 RCV003925098

NM_000277.3(PAH):c.439C>T (p.Pro147Ser)

SNV
Germline

Chr12:102877464

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229541

rs_199475624

8 SubmittersRCV000088917 RCV000674963

NM_000277.3(PAH):c.440C>T (p.Pro147Leu)

SNV
Germline

Chr12:102877463

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229543

rs_199475694

5 SubmittersRCV000088918 RCV000595460

NM_000277.3(PAH):c.441+1G>A

SNV
Germline

Chr12:102877461

Pathogenic

Condition: not provided
Phenylketonuria
Inborn genetic diseases

Reviewed By Expert Panel

CA229545

rs_62517166

12 SubmittersRCV000088919 RCV000169579 RCV002515782

NM_000277.3(PAH):c.441+3G>C

SNV
Germline

Chr12:102877459

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229546

rs_62508642

4 SubmittersRCV000088920 RCV000665892

NM_000277.3(PAH):c.442-5C>G

SNV
Germline

Chr12:102866668

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA286504

rs_62514909

8 SubmittersRCV000088925 RCV000801016 RCV002222393

NM_000277.3(PAH):c.442G>A (p.Gly148Ser)

SNV
Germline

Chr12:102866663

Likely pathogenic

Condition: not provided
Phenylketonuria
PAH-related disorder

Reviewed By Expert Panel

CA229551

rs_80297647

8 SubmittersRCV000088928 RCV001053534 RCV003894944

NM_000277.3(PAH):c.460T>C (p.Tyr154His)

SNV
Germline

Chr12:102866645

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229557

rs_199475587

3 SubmittersRCV000088933 RCV001093509

NM_000277.3(PAH):c.464G>A (p.Arg155His)

SNV
Germline

Chr12:102866641

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229559

rs_199475663

11 SubmittersRCV000088934 RCV000632881

NM_000277.3(PAH):c.464G>C (p.Arg155Pro)

SNV
Germline

Chr12:102866641

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229561

rs_199475663

5 SubmittersRCV000088935 RCV000675156

NM_000277.3(PAH):c.466G>C (p.Ala156Pro)

SNV
Germline

Chr12:102866639

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229562

rs_199475686

2 SubmittersRCV000088936 RCV003479002

NM_000277.3(PAH):c.470G>T (p.Arg157Ile)

SNV
Germline

Chr12:102866635

Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229567

rs_199475611

2 SubmittersRCV000088939 RCV002513933

NM_000277.3(PAH):c.472C>T (p.Arg158Trp)

SNV
Germline

Chr12:102866633

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229570

rs_75166491

10 SubmittersRCV000088941 RCV000409986

NM_000277.3(PAH):c.482T>C (p.Phe161Ser)

SNV
Unknown

Chr12:102866623

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229575

rs_79635844

3 SubmittersRCV000088945 RCV000674841

NM_000277.3(PAH):c.490A>G (p.Ile164Val)

SNV
Germline

Chr12:102866615

Likely pathogenic

Condition: not provided
Phenylketonuria
See cases
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency

Reviewed By Expert Panel

CA229576

rs_199475647

7 SubmittersRCV000088946 RCV000535090 RCV002251981 RCV003114254

NM_000277.3(PAH):c.491T>C (p.Ile164Thr)

SNV
Germline

Chr12:102866614

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229578

rs_199475595

2 SubmittersRCV000088947 RCV002514543

NM_000277.3(PAH):c.493G>A (p.Ala165Thr)

SNV
Germline

Chr12:102866612

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229579

rs_199475626

3 SubmittersRCV000088948 RCV000993614

NM_000277.3(PAH):c.498C>A (p.Tyr166Ter)

SNV
Germline

Chr12:102866607

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229583

rs_199475645

2 SubmittersRCV000088950 RCV000993615

NM_000277.3(PAH):c.506G>A (p.Arg169His)

SNV
Germline

Chr12:102866599

Likely pathogenic

Condition: not provided
Phenylketonuria
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Inborn genetic diseases
Pulmonary hypertension, primary, 1

Reviewed By Expert Panel

CA286505

rs_199475679

22 SubmittersRCV000088954 RCV000311018 RCV001530926 RCV002515783 RCV003987362

NM_000277.3(PAH):c.509+1G>A

SNV
Germline

Chr12:102866595

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229589

rs_63102461

7 SubmittersRCV000088955 RCV001057888

NM_000277.3(PAH):c.510T>A (p.His170Gln)

SNV
Germline

Chr12:102855332

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229597

rs_199475652

5 SubmittersRCV000088963 RCV001048510

NM_000277.3(PAH):c.511G>A (p.Gly171Arg)

SNV
Germline

Chr12:102855331

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229598

rs_199475613

5 SubmittersRCV000088964 RCV000560269

NM_000277.3(PAH):c.512G>C (p.Gly171Ala)

SNV
Germline

Chr12:102855330

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229599

rs_199475596

3 SubmittersRCV000088965 RCV003474692

NM_000277.3(PAH):c.514C>T (p.Gln172Ter)

SNV
Germline

Chr12:102855328

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229600

rs_199475588

4 SubmittersRCV000088966 RCV001238801

NM_000277.3(PAH):c.520A>G (p.Ile174Val)

SNV
Germline

Chr12:102855322

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229603

rs_199475632

9 SubmittersRCV000088968 RCV000675155

NM_000277.3(PAH):c.521T>C (p.Ile174Thr)

SNV
Germline

Chr12:102855321

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229604

rs_138809906

2 SubmittersRCV000088969 RCV000993616

NM_000277.3(PAH):c.526C>T (p.Arg176Ter)

SNV
Germline

Chr12:102855316

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA275338

rs_199475575

14 SubmittersRCV000088971 RCV000179282

NM_000277.3(PAH):c.527G>A (p.Arg176Gln)

SNV
Germline

Chr12:102855315

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229606

rs_74486803

7 SubmittersRCV000088972 RCV000810165

NM_000277.3(PAH):c.527G>C (p.Arg176Pro)

SNV
Germline

Chr12:102855315

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229608

rs_74486803

2 SubmittersRCV000088973 RCV001854513

NM_000277.3(PAH):c.529G>A (p.Val177Met)

SNV
Germline

Chr12:102855313

Pathogenic

Condition: not provided
Phenylketonuria
Hyperphenylalaninemia
PAH-related disorder

Reviewed By Expert Panel

CA229609

rs_199475602

12 SubmittersRCV000088975 RCV000534379 RCV000589313 RCV003905086

NM_000277.3(PAH):c.529G>C (p.Val177Leu)

SNV
Germline

Chr12:102855313

Pathogenic

Condition: not provided
PAH-related disorder
Phenylketonuria

Reviewed By Expert Panel

CA229610

rs_199475602

11 SubmittersRCV000088976 RCV003390790 RCV000669836

NM_000277.3(PAH):c.535T>A (p.Tyr179Asn)

SNV
Germline

Chr12:102855307

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229613

rs_199475671

4 SubmittersRCV000088978 RCV000721182

NM_000277.3(PAH):c.535T>C (p.Tyr179His)

SNV
Germline

Chr12:102855307

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229615

rs_199475671

3 SubmittersRCV000088979 RCV001778707

NM_000277.3(PAH):c.545A>G (p.Glu182Gly)

SNV
Germline

Chr12:102855297

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229617

rs_199475617

5 SubmittersRCV000088980 RCV001248714

NM_000277.3(PAH):c.559T>C (p.Trp187Arg)

SNV
Germline

Chr12:102855283

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229622

rs_62507272

4 SubmittersRCV000088984 RCV000671079

NM_000277.3(PAH):c.561G>A (p.Trp187Ter)

SNV
Germline

Chr12:102855281

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229624

rs_62507336

13 SubmittersRCV000088985 RCV000169529

NM_000277.3(PAH):c.561G>C (p.Trp187Cys)

SNV
Germline

Chr12:102855281

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229626

rs_62507336

5 SubmittersRCV000088986 RCV000668474

NM_000277.3(PAH):c.563G>A (p.Gly188Asp)

SNV
Germline

Chr12:102855279

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229628

rs_199475689

5 SubmittersRCV000088987 RCV000674846

NM_000277.3(PAH):c.569T>C (p.Val190Ala)

SNV
Germline

Chr12:102855273

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229631

rs_62514919

5 SubmittersRCV000088989 RCV000632878

NM_000277.3(PAH):c.581T>C (p.Leu194Pro)

SNV
Germline

Chr12:102855261

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229633

rs_5030844

6 SubmittersRCV000088991 RCV000411842

NM_000277.3(PAH):c.58C>T (p.Gln20Ter)

SNV
Germline

Chr12:102917073

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229635

rs_199475585

8 SubmittersRCV000088993 RCV000169450

NM_000277.3(PAH):c.60+5G>T

SNV
Germline

Chr12:102917066

Pathogenic

Condition: not provided
Phenylketonuria
Inborn genetic diseases
PAH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274903

rs_62514895

13 SubmittersRCV000089000 RCV000173096 RCV000624585 RCV003415875

NM_000277.3(PAH):c.601C>T (p.His201Tyr)

SNV
Germline

Chr12:102855241

Likely pathogenic

Condition: not provided
Phenylketonuria
Hyperphenylalaninemia

Reviewed By Expert Panel

CA229643

rs_62517205

8 SubmittersRCV000089001 RCV000509208 RCV000588479

NM_000277.3(PAH):c.602A>G (p.His201Arg)

SNV
Germline

Chr12:102855240

Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229644

rs_62517180

2 SubmittersRCV000089002 RCV000806196

NM_000277.3(PAH):c.608G>A (p.Cys203Tyr)

SNV
Germline

Chr12:102855234

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229645

rs_62507271

2 SubmittersRCV000089003 RCV001543657

NM_000277.3(PAH):c.609C>G (p.Cys203Trp)

SNV
Germline

Chr12:102855233

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229647

rs_1801147

2 SubmittersRCV000089004 RCV001543658

NM_000277.3(PAH):c.612T>G (p.Tyr204Ter)

SNV
Germline

Chr12:102855230

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229654

rs_62514928

7 SubmittersRCV000089008 RCV000686246

NM_000277.3(PAH):c.613G>A (p.Glu205Lys)

SNV
Germline

Chr12:102855229

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229656

rs_63083560

3 SubmittersRCV000089009 RCV001071178

NM_000277.3(PAH):c.617A>G (p.Tyr206Cys)

SNV
Germline

Chr12:102855225

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229660

rs_62508728

3 SubmittersRCV000089012 RCV000666489

NM_000277.3(PAH):c.618C>G (p.Tyr206Ter)

SNV
Germline

Chr12:102855224

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229662

rs_62517201

3 SubmittersRCV000089013 RCV000578371

NM_000277.3(PAH):c.620A>G (p.Asn207Ser)

SNV
Germline

Chr12:102855222

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229665

rs_62508721

5 SubmittersRCV000089015 RCV000668775

NM_000277.3(PAH):c.631C>A (p.Pro211Thr)

SNV
Germline

Chr12:102855211

Pathogenic

Condition: not provided
Phenylketonuria
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency

Reviewed By Expert Panel

CA229666

rs_62514931

10 SubmittersRCV000089016 RCV000411219 RCV001192748

NM_000277.3(PAH):c.635T>C (p.Leu212Pro)

SNV
Germline

Chr12:102855207

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229668

rs_62517198

6 SubmittersRCV000089018 RCV000671113

NM_000277.3(PAH):c.648C>G (p.Tyr216Ter)

SNV
Germline

Chr12:102855194

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229669

rs_62509013

8 SubmittersRCV000089019 RCV000179283

NM_000277.3(PAH):c.649T>C (p.Cys217Arg)

SNV
Germline

Chr12:102855193

Conflicting classifications of pathogenicity

Condition: not provided
Phenylketonuria

Criteria Provided
Conflicting Classifications

CA229671

rs_62508718

4 SubmittersRCV000089020 RCV000664975

NM_000277.3(PAH):c.649T>G (p.Cys217Gly)

SNV
Germline

Chr12:102855193

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229673

rs_62508718

2 SubmittersRCV000089021 RCV001789759

NM_000277.3(PAH):c.653G>T (p.Gly218Val)

SNV
Germline

Chr12:102855189

Pathogenic

Condition: not provided
Phenylketonuria
PAH-related disorder

Reviewed By Expert Panel

CA229676

rs_62514933

10 SubmittersRCV000089023 RCV000705590 RCV003390791

NM_000277.3(PAH):c.665A>G (p.Asp222Gly)

SNV
Germline

Chr12:102855177

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229679

rs_62507319

6 SubmittersRCV000089026 RCV001381395

NM_000277.3(PAH):c.665A>T (p.Asp222Val)

SNV
Germline

Chr12:102855177

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229681

rs_62507319

3 SubmittersRCV000089027 RCV001789760

NM_000277.3(PAH):c.671T>C (p.Ile224Thr)

SNV
Germline

Chr12:102855171

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229682

rs_62507323

6 SubmittersRCV000089028 RCV001261644

NM_000277.3(PAH):c.673C>A (p.Pro225Thr)

SNV
Germline

Chr12:102855169

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229685

rs_199475589

6 SubmittersRCV000089030 RCV000673267

NM_000277.3(PAH):c.673C>G (p.Pro225Ala)

SNV
Germline

Chr12:102855169

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229686

rs_199475589

3 SubmittersRCV000089031 RCV001543660

NM_000277.3(PAH):c.676C>T (p.Gln226Ter)

SNV
Germline

Chr12:102855166

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229689

rs_62508696

2 SubmittersRCV000089033 RCV001200001

NM_000277.3(PAH):c.678G>C (p.Gln226His)

SNV
Germline

Chr12:102855164

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229691

rs_62508615

2 SubmittersRCV000089034 RCV001854514

NM_000277.3(PAH):c.688G>A (p.Val230Ile)

SNV
Germline

Chr12:102855154

Likely pathogenic

Condition: not provided
Phenylketonuria
PAH-related disorder

Reviewed By Expert Panel

CA286506

rs_62516152

24 SubmittersRCV000089035 RCV000411829 RCV003398705

NM_000277.3(PAH):c.691T>C (p.Ser231Pro)

SNV
Germline

Chr12:102855151

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229694

rs_5030845

7 SubmittersRCV000089037 RCV000190611

NM_000277.3(PAH):c.692C>T (p.Ser231Phe)

SNV
Germline

Chr12:102855150

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229695

rs_62508577

3 SubmittersRCV000089038 RCV001857431

NM_000277.3(PAH):c.694C>T (p.Gln232Ter)

SNV
Germline

Chr12:102855148

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229696

rs_62507348

6 SubmittersRCV000089039 RCV000169464

NM_000277.3(PAH):c.699C>A (p.Phe233Leu)

SNV
Germline

Chr12:102855143

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229699

rs_62517208

2 SubmittersRCV000089041 RCV002259588

NM_000277.3(PAH):c.707-1G>A

SNV
Germline

Chr12:102852951

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229703

rs_62507269

4 SubmittersRCV000089044 RCV000797518

NM_000277.3(PAH):c.707-2A>G

SNV
Germline

Chr12:102852952

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229704

rs_62514938

2 SubmittersRCV000089045 RCV001375889

NM_000277.3(PAH):c.712A>C (p.Thr238Pro)

SNV
Germline

Chr12:102852945

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229705

rs_199475577

5 SubmittersRCV000089047 RCV000672442

NM_000277.3(PAH):c.716G>A (p.Gly239Asp)

SNV
Germline

Chr12:102852941

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229707

rs_62507283

2 SubmittersRCV000089049 RCV001857432

NM_000277.3(PAH):c.716G>C (p.Gly239Ala)

SNV
Germline

Chr12:102852941

Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229709

rs_62507283

2 SubmittersRCV000089050 RCV002514545

NM_000277.3(PAH):c.716G>T (p.Gly239Val)

SNV
Germline

Chr12:102852941

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229711

rs_62507283

6 SubmittersRCV000089051 RCV001215843

NM_000277.3(PAH):c.719T>C (p.Phe240Ser)

SNV
Germline

Chr12:102852938

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229715

rs_62508594

2 SubmittersRCV000089053 RCV002259590

NM_000277.3(PAH):c.721C>T (p.Arg241Cys)

SNV
Germline

Chr12:102852936

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA273357

rs_76687508

17 SubmittersRCV000089054 RCV000153635

NM_000277.3(PAH):c.722G>A (p.Arg241His)

SNV
Germline

Chr12:102852935

Pathogenic

Condition: not provided
Phenylketonuria
Inborn genetic diseases

Reviewed By Expert Panel

CA286507

rs_62508730

15 SubmittersRCV000089055 RCV000576386 RCV003343638

NM_000277.3(PAH):c.722G>T (p.Arg241Leu)

SNV
Germline

Chr12:102852935

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229716

rs_62508730

4 SubmittersRCV000089056 RCV000688713

NM_000277.3(PAH):c.724C>T (p.Leu242Phe)

SNV
Germline

Chr12:102852933

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229718

rs_199475578

5 SubmittersRCV000089058 RCV000411222

NM_000277.3(PAH):c.728G>T (p.Arg243Leu)

SNV
Germline

Chr12:102852929

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229719

rs_62508588

2 SubmittersRCV000089060 RCV001543659

NM_000277.3(PAH):c.733G>A (p.Val245Met)

SNV
Germline

Chr12:102852924

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229722

rs_62508694

2 SubmittersRCV000089062 RCV002259591

NM_000277.3(PAH):c.733G>C (p.Val245Leu)

SNV
Germline

Chr12:102852924

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229724

rs_62508694

8 SubmittersRCV000089063 RCV000340479

NM_000277.3(PAH):c.734T>A (p.Val245Glu)

SNV
Germline

Chr12:102852923

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229725

rs_76212747

2 SubmittersRCV000089064 RCV000632879

NM_000277.3(PAH):c.739G>A (p.Gly247Ser)

SNV
Germline

Chr12:102852918

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229730

rs_62508731

2 SubmittersRCV000089070 RCV000758094

NM_000277.3(PAH):c.739G>C (p.Gly247Arg)

SNV
Germline

Chr12:102852918

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229732

rs_62508731

4 SubmittersRCV000089071 RCV000668140

NM_000277.3(PAH):c.740G>T (p.Gly247Val)

SNV
Germline

Chr12:102852917

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229736

rs_199475579

6 SubmittersRCV000089073 RCV000169396

NM_000277.3(PAH):c.745C>T (p.Leu249Phe)

SNV
Germline

Chr12:102852912

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA273356

rs_74503222

11 SubmittersRCV000089076 RCV000153634

NM_000277.3(PAH):c.746T>A (p.Leu249His)

SNV
Germline

Chr12:102852911

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229740

rs_62507338

2 SubmittersRCV000089077 RCV002259595

NM_000277.3(PAH):c.754C>G (p.Arg252Gly)

SNV
Germline

Chr12:102852903

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229742

rs_5030847

4 SubmittersRCV000089078 RCV000674327

NM_000277.3(PAH):c.755G>A (p.Arg252Gln)

SNV
Germline

Chr12:102852902

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229743

rs_62644503

12 SubmittersRCV000089080 RCV000179742

NM_000277.3(PAH):c.770G>T (p.Gly257Val)

SNV
Germline

Chr12:102852887

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229753

rs_62642908

5 SubmittersRCV000089087 RCV000668413

NM_000277.3(PAH):c.775G>A (p.Ala259Thr)

SNV
Germline

Chr12:102852882

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229755

rs_62642932

3 SubmittersRCV000089088 RCV000411173

NM_000277.3(PAH):c.782G>C (p.Arg261Pro)

SNV
Germline

Chr12:102852875

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229759

rs_5030849

6 SubmittersRCV000089091 RCV000410877

NM_000277.3(PAH):c.794G>A (p.Cys265Tyr)

SNV
Germline

Chr12:102852863

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229763

rs_62507335

3 SubmittersRCV000089095 RCV000810805

NM_000277.3(PAH):c.799C>G (p.Gln267Glu)

SNV
Germline

Chr12:102852858

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229769

rs_199475676

2 SubmittersRCV000089098 RCV000758126

NM_000277.3(PAH):c.801G>C (p.Gln267His)

SNV
Germline

Chr12:102852856

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229771

rs_199475675

2 SubmittersRCV000089099 RCV000758096

NM_000277.3(PAH):c.805A>C (p.Ile269Leu)

SNV
Germline

Chr12:102852852

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229775

rs_62508692

14 SubmittersRCV000089101 RCV000281383

NM_000277.3(PAH):c.806T>A (p.Ile269Asn)

SNV
Germline

Chr12:102852851

Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229776

rs_199475644

4 SubmittersRCV000089102 RCV000763291

NM_000277.3(PAH):c.809G>A (p.Arg270Lys)

SNV
Germline

Chr12:102852848

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229781

rs_62514950

10 SubmittersRCV000089105 RCV000153632

NM_000277.3(PAH):c.810A>T (p.Arg270Ser)

SNV
Germline

Chr12:102852847

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229782

rs_62514951

2 SubmittersRCV000089106 RCV003323400

NM_000277.3(PAH):c.812A>G (p.His271Arg)

SNV
Germline

Chr12:102852845

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA286508

rs_199475692

2 SubmittersRCV000089109 RCV000758132

NM_000277.3(PAH):c.823C>T (p.Pro275Ser)

SNV
Germline

Chr12:102852834

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229789

rs_62508691

4 SubmittersRCV000089114 RCV000672603

NM_000277.3(PAH):c.824C>G (p.Pro275Arg)

SNV
Germline

Chr12:102852833

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229791

rs_62508715

6 SubmittersRCV000089115 RCV000672381

NM_000277.3(PAH):c.824C>T (p.Pro275Leu)

SNV
Germline

Chr12:102852833

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229793

rs_62508715

4 SubmittersRCV000089116 RCV000670910

NM_000277.3(PAH):c.826A>G (p.Met276Val)

SNV
Germline

Chr12:102852831

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229794

rs_62516149

5 SubmittersRCV000089117 RCV000664652

NM_000277.3(PAH):c.827T>A (p.Met276Lys)

SNV
Germline

Chr12:102852830

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229795

rs_62508722

3 SubmittersRCV000089118 RCV000758121

NM_000277.3(PAH):c.827T>G (p.Met276Arg)

SNV
Germline

Chr12:102852830

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229797

rs_62508722

4 SubmittersRCV000089119 RCV001375900

NM_000277.3(PAH):c.830A>G (p.Tyr277Cys)

SNV
Germline

Chr12:102852827

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229800

rs_62516155

4 SubmittersRCV000089121 RCV000411640

NM_000277.3(PAH):c.832A>G (p.Thr278Ala)

SNV
Germline

Chr12:102852825

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229801

rs_62516156

2 SubmittersRCV000089122 RCV001789762

NM_000277.3(PAH):c.833C>A (p.Thr278Asn)

SNV
Germline

Chr12:102852824

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229802

rs_62507262

8 SubmittersRCV000089123 RCV000665406

NM_000277.3(PAH):c.833C>T (p.Thr278Ile)

SNV
Germline

Chr12:102852824

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229803

rs_62507262

6 SubmittersRCV000089124 RCV000672785

NM_000277.3(PAH):c.838G>C (p.Glu280Gln)

SNV
Germline

Chr12:102852819

Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229805

rs_62508698

2 SubmittersRCV000089125 RCV001857433

NM_000277.3(PAH):c.839A>G (p.Glu280Gly)

SNV
Germline

Chr12:102852818

Pathogenic

Phenylketonuria
Condition: not provided

Criteria Provided
Single Submitter

CA229808

rs_62508734

2 SubmittersRCV000632877 RCV000089127

NM_000277.3(PAH):c.842+1G>T

SNV
Germline

Chr12:102852814

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229812

rs_5030852

2 SubmittersRCV000089130 RCV000993619

NM_000277.3(PAH):c.842+3G>C

SNV
Germline

Chr12:102852812

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229814

rs_62507324

10 SubmittersRCV000089132 RCV000409987

NM_000277.3(PAH):c.842+5G>A

SNV
Germline

Chr12:102852810

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229815

rs_62516146

9 SubmittersRCV000089133 RCV000169348

NM_000277.3(PAH):c.843-2A>T

SNV
Germline

Chr12:102851758

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229816

rs_62509019

2 SubmittersRCV000089134 RCV000993620

NM_000277.3(PAH):c.844G>A (p.Asp282Asn)

SNV
Germline

Chr12:102851755

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229817

rs_199475582

6 SubmittersRCV000089135 RCV000411380

NM_000277.3(PAH):c.845A>G (p.Asp282Gly)

SNV
Germline

Chr12:102851754

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229818

rs_199475660

3 SubmittersRCV000089136 RCV002514547

NM_000277.3(PAH):c.847A>T (p.Ile283Phe)

SNV
Germline

Chr12:102851752

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229820

rs_62517168

8 SubmittersRCV000089137 RCV000169005

NM_000277.3(PAH):c.848T>A (p.Ile283Asn)

SNV
Germline

Chr12:102851751

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229821

rs_62508693

4 SubmittersRCV000089138 RCV000758133

NM_000277.3(PAH):c.850T>C (p.Cys284Arg)

SNV
Germline

Chr12:102851749

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229822

rs_199475682

2 SubmittersRCV000089139 RCV001543638

NM_000277.3(PAH):c.856G>A (p.Glu286Lys)

SNV
Germline

Chr12:102851743

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229826

rs_62508739

5 SubmittersRCV000089141 RCV000758134

NM_000277.3(PAH):c.865G>C (p.Gly289Arg)

SNV
Germline

Chr12:102851734

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229830

rs_199475693

2 SubmittersRCV000089143 RCV000758136

NM_000277.3(PAH):c.884C>G (p.Ser295Ter)

SNV
Germline

Chr12:102851715

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229834

rs_62642910

2 SubmittersRCV000089145 RCV000993621

NM_000277.3(PAH):c.889C>T (p.Arg297Cys)

SNV
Germline

Chr12:102851710

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229836

rs_62642945

8 SubmittersRCV000089146 RCV000993622

NM_000277.3(PAH):c.899C>T (p.Ala300Val)

SNV
Germline

Chr12:102851700

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229839

rs_199475609

4 SubmittersRCV000089149 RCV000669088

NM_000277.3(PAH):c.907T>C (p.Ser303Pro)

SNV
Germline

Chr12:102851692

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229841

rs_199475608

2 SubmittersRCV000089151 RCV000993625

NM_000277.3(PAH):c.907T>G (p.Ser303Ala)

SNV
Germline

Chr12:102851692

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229842

rs_199475608

2 SubmittersRCV000089152 RCV001543639

NM_000277.3(PAH):c.911A>G (p.Gln304Arg)

SNV
Germline

Chr12:102851688

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229844

rs_199475592

2 SubmittersRCV000089153 RCV001543640

NM_000277.3(PAH):c.912G>A (p.Gln304=)

SNV
Germline

Chr12:102851687

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229845

rs_199475583

7 SubmittersRCV000089154 RCV000672215

NM_000277.3(PAH):c.913-7A>G

SNV
Germline

Chr12:102846958

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229848

rs_62517165

10 SubmittersRCV000089156 RCV000589029

NM_000277.3(PAH):c.922C>T (p.Leu308Phe)

SNV
Germline

Chr12:102846942

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229851

rs_62642095

3 SubmittersRCV000089159 RCV003474693

NM_000277.3(PAH):c.926C>A (p.Ala309Asp)

SNV
Germline

Chr12:102846938

Pathogenic/Likely pathogenic

Phenylketonuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA229853

rs_62642935

3 SubmittersRCV000668228 RCV000089160

NM_000277.3(PAH):c.929C>T (p.Ser310Phe)

SNV
Germline

Chr12:102846935

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229855

rs_62642913

6 SubmittersRCV000089162 RCV000552302

NM_000277.3(PAH):c.935G>A (p.Gly312Asp)

SNV
Germline

Chr12:102846929

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229857

rs_62642915

3 SubmittersRCV000089165 RCV001269049

NM_000277.3(PAH):c.938C>T (p.Ala313Val)

SNV
Germline

Chr12:102846926

Pathogenic

Condition: not provided
Phenylketonuria
See cases

Reviewed By Expert Panel

CA229861

rs_62642914

5 SubmittersRCV000089167 RCV001857434 RCV002251982

NM_000277.3(PAH):c.940C>A (p.Pro314Thr)

SNV
Germline

Chr12:102846924

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229863

rs_199475650

6 SubmittersRCV000089168 RCV000672630

NM_000277.3(PAH):c.940C>T (p.Pro314Ser)

SNV
Germline

Chr12:102846924

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229865

rs_199475650

3 SubmittersRCV000089169 RCV000758098

NM_000277.3(PAH):c.941C>A (p.Pro314His)

SNV
Germline

Chr12:102846923

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229867

rs_62642940

9 SubmittersRCV000089171 RCV000409567

NM_000277.3(PAH):c.960G>C (p.Lys320Asn)

SNV
Germline

Chr12:102846904

Pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229871

rs_199475615

6 SubmittersRCV000089174 RCV000666332

NM_000277.3(PAH):c.964G>A (p.Ala322Thr)

SNV
Germline

Chr12:102846900

Pathogenic

Condition: not provided
Phenylketonuria
Inborn genetic diseases

Reviewed By Expert Panel

CA229875

rs_62514957

8 SubmittersRCV000089176 RCV000797233 RCV002515784

NM_000277.3(PAH):c.969+1G>A

SNV
Germline

Chr12:102846894

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229878

rs_62508584

4 SubmittersRCV000089179 RCV000797251

NM_000277.3(PAH):c.969+5G>A

SNV
Germline

Chr12:102846890

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229879

rs_62508637

3 SubmittersRCV000089181 RCV001093511

NM_000277.3(PAH):c.970-2A>C

SNV
Germline

Chr12:102844433

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229882

rs_62517199

2 SubmittersRCV000089184 RCV001269320

NM_000277.3(PAH):c.975C>G (p.Tyr325Ter)

SNV
Germline

Chr12:102844426

Pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229885

rs_62508573

5 SubmittersRCV000089187 RCV000410321

NM_000277.3(PAH):c.982A>G (p.Thr328Ala)

SNV
Germline

Chr12:102844419

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA229891

rs_199475616

4 SubmittersRCV000089190 RCV001854516

NM_000277.3(PAH):c.990G>C (p.Glu330Asp)

SNV
Germline

Chr12:102844411

Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Single Submitter

CA229893

rs_62508580

2 SubmittersRCV000089191 RCV002513935

NM_000277.3(PAH):c.992T>G (p.Phe331Cys)

SNV
Germline

Chr12:102844409

Pathogenic/Likely pathogenic

Condition: not provided
Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA229895

rs_199475614

3 SubmittersRCV000089193 RCV002515785

NM_000277.3(PAH):c.1066-2A>T

SNV
Germline

Chr12:102843781

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA267625

rs_281865447

2 SubmittersRCV000106339

NM_000277.3(PAH):c.1163T>C (p.Val388Ala)

SNV
Germline

Chr12:102843682

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA267628

rs_281865435

2 SubmittersRCV000106341

NM_000277.3(PAH):c.1180G>T (p.Asp394Tyr)

SNV
Germline

Chr12:102843665

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA267632

rs_62516142

2 SubmittersRCV000106343

NM_000277.3(PAH):c.1196T>C (p.Val399Ala)

SNV
Germline

Chr12:102843649

Likely pathogenic

Phenylketonuria
See cases

Reviewed By Expert Panel

CA267634

rs_281865436

3 SubmittersRCV000106344 RCV004584352

NM_000277.3(PAH):c.164T>C (p.Phe55Ser)

SNV
Germline

Chr12:102912795

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA267639

rs_281865438

2 SubmittersRCV000106347

NM_000277.3(PAH):c.169G>T (p.Glu57Ter)

SNV
Germline

Chr12:102894918

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA267642

rs_140945592

2 SubmittersRCV000106349

NM_000277.3(PAH):c.183C>A (p.Asn61Lys)

SNV
Germline

Chr12:102894904

Pathogenic/Likely pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA267644

rs_199475634

4 SubmittersRCV000106350

NM_000277.3(PAH):c.196G>T (p.Glu66Ter)

SNV
Germline

Chr12:102894891

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA267645

rs_281865454

2 SubmittersRCV000106351

NM_000277.3(PAH):c.441+6T>A

SNV
Germline

Chr12:102877456

Likely pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

CA267654

rs_199475698

8 SubmittersRCV000106356 RCV001563425

NM_000277.3(PAH):c.442-2A>C

SNV
Germline

Chr12:102866665

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA267655

rs_281865448

5 SubmittersRCV000106357

NM_000277.3(PAH):c.504C>A (p.Tyr168Ter)

SNV
Germline

Chr12:102866601

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA267656

rs_281865455

3 SubmittersRCV000106358

NM_000277.3(PAH):c.591G>C (p.Leu197Phe)

SNV
Germline

Chr12:102855251

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA267662

rs_281865442

4 SubmittersRCV000106361

NM_000277.3(PAH):c.60+5G>A

SNV
Unknown

Chr12:102917066

Likely pathogenic

Phenylketonuria

No Assertion Criteria Provided

CA267664

rs_62514895

1 SubmittersRCV000106362

NM_000277.3(PAH):c.632C>T (p.Pro211Leu)

SNV
Germline

Chr12:102855210

Pathogenic/Likely pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA267667

rs_281865443

6 SubmittersRCV000106364

NM_000277.3(PAH):c.785T>G (p.Val262Gly)

SNV
Germline

Chr12:102852872

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA267671

rs_281865445

2 SubmittersRCV000106366

NM_000277.3(PAH):c.796A>C (p.Thr266Pro)

SNV
Germline

Chr12:102852861

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA267673

rs_62508752

2 SubmittersRCV000106367

NM_000277.3(PAH):c.841C>G (p.Pro281Ala)

SNV
Unknown

Chr12:102852816

Likely pathogenic

Phenylketonuria

No Assertion Criteria Provided

CA267678

rs_199475654

1 SubmittersRCV000106370

NM_000277.3(PAH):c.912+2T>C

SNV
Germline

Chr12:102851685

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA267684

rs_281865449

3 SubmittersRCV000106373

NM_000277.3(PAH):c.970-1G>A

SNV
Germline

Chr12:102844432

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA267690

rs_202183605

3 SubmittersRCV000106379

NM_000277.3(PAH):c.505C>T (p.Arg169Cys)

SNV
Germline

Chr12:102866600

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA267693

rs_281865440

6 SubmittersRCV000111461

NM_000277.3(PAH):c.1065+1G>T

SNV
Germline

Chr12:102844335

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

rs_62516147

6 SubmittersRCV001092606 RCV001269057

NM_000277.3(PAH):c.615G>C (p.Glu205Asp)

SNV
Germline

Chr12:102855227

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_765552494

1 SubmittersRCV002000227

NM_000277.3(PAH):c.2T>C (p.Met1Thr)

SNV
Germline

Chr12:102917129

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

CA312807

rs_62508575

6 SubmittersRCV000186076 RCV000984289

NM_000277.3(PAH):c.1025C>A (p.Ala342Glu)

SNV
Unknown

Chr12:102844376

Likely pathogenic

Phenylketonuria

No Assertion Criteria Provided

CA275935

rs_796064501

1 SubmittersRCV000190375

NM_000277.3(PAH):c.836C>T (p.Pro279Leu)

SNV
Germline

Chr12:102852821

Pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA275939

rs_796064503

5 SubmittersRCV000190377

NM_000277.3(PAH):c.242C>A (p.Thr81Asn)

SNV
Germline

Chr12:102894845

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA275937

rs_796064502

3 SubmittersRCV000190376

NM_000277.3(PAH):c.1172G>C (p.Ser391Thr)

SNV
Germline

Chr12:102843673

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA357240

rs_869312997

2 SubmittersRCV000210788

NM_000277.3(PAH):c.320A>G (p.His107Arg)

SNV
Germline

Chr12:102894767

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA354151

rs_542645236

6 SubmittersRCV000210807

NM_000277.3(PAH):c.110T>C (p.Leu37Pro)

SNV
Germline

Chr12:102912849

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA357242

rs_869312996

2 SubmittersRCV000210792

NM_000277.3(PAH):c.356C>T (p.Pro119Leu)

SNV
Germline

Chr12:102877547

Conflicting classifications of pathogenicity

Condition: not provided
Phenylketonuria

Criteria Provided
Conflicting Classifications

CA6748965

rs_374999809

2 SubmittersRCV000385558 RCV002519074

NM_000277.3(PAH):c.1315+1G>T

SNV
Germline

Chr12:102840399

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA16020993

rs_5030861

2 SubmittersRCV000410802

NM_000277.3(PAH):c.1282C>T (p.Gln428Ter)

SNV
Germline

Chr12:102840433

Pathogenic/Likely pathogenic

Phenylketonuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041558

rs_567261857

3 SubmittersRCV000410471 RCV000759177

NM_000277.3(PAH):c.1147C>T (p.Gln383Ter)

SNV
Germline

Chr12:102843698

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA16020949

rs_1037293795

3 SubmittersRCV000409716

NM_000277.3(PAH):c.992T>C (p.Phe331Ser)

SNV
Germline

Chr12:102844409

Pathogenic/Likely pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA16020915

rs_199475614

3 SubmittersRCV000410352

NM_000277.3(PAH):c.498C>G (p.Tyr166Ter)

SNV
Germline

Chr12:102866607

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA16020801

rs_199475645

6 SubmittersRCV000410899

NM_000277.3(PAH):c.1316-2A>G

SNV
Germline

Chr12:102839220

Likely pathogenic

not specified
Phenylketonuria

Reviewed By Expert Panel

CA6748680

rs_760830761

2 SubmittersRCV000506381 RCV003479144

NM_000277.3(PAH):c.842+4A>G

SNV
Germline

Chr12:102852811

Likely pathogenic

not specified
Phenylketonuria

Reviewed By Expert Panel

CA16020870

rs_1555204434

3 SubmittersRCV000506590 RCV000721176

NM_000277.3(PAH):c.934G>T (p.Gly312Cys)

SNV
Germline

Chr12:102846930

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

CA386291684

rs_763115697

1 SubmittersRCV000515773

NM_000277.3(PAH):c.1037G>A (p.Gly346Glu)

SNV
Germline

Chr12:102844364

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

CA16020921

rs_1555203737

1 SubmittersRCV000553622

NM_000277.3(PAH):c.865G>A (p.Gly289Arg)

SNV
Germline

Chr12:102851734

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA386294434

rs_199475693

3 SubmittersRCV000548849

NM_000277.3(PAH):c.835C>G (p.Pro279Ala)

SNV
Germline

Chr12:102852822

Pathogenic/Likely pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA386294536

rs_1555204441

2 SubmittersRCV000551613

NM_000277.3(PAH):c.226G>T (p.Glu76Ter)

SNV
Germline

Chr12:102894861

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

CA16020752

rs_762949770

2 SubmittersRCV000590560

NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)

SNV
Germline

Chr12:102839204

Conflicting classifications of pathogenicity

Phenylketonuria

Criteria Provided
Conflicting Classifications

rs_1402168594

3 SubmittersRCV000666307

NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)

SNV
Germline

Chr12:102840430

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_764974157

4 SubmittersRCV000666644

NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)

SNV
Germline

Chr12:102840468

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1445893088

3 SubmittersRCV000674315

NM_000277.3(PAH):c.1218A>G (p.Ile406Met)

SNV
Germline

Chr12:102840497

Likely pathogenic

Phenylketonuria
Condition: not provided

Reviewed By Expert Panel

rs_773526027

7 SubmittersRCV000668256 RCV000985880

NM_000277.3(PAH):c.1144T>C (p.Phe382Leu)

SNV
Germline

Chr12:102843701

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1555203681

3 SubmittersRCV000672945

NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)

SNV
Germline

Chr12:102843771

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_376480977

6 SubmittersRCV000672872

NM_000277.3(PAH):c.1069T>C (p.Cys357Arg)

SNV
Germline

Chr12:102843776

Conflicting classifications of pathogenicity

Phenylketonuria

Criteria Provided
Conflicting Classifications

rs_62508595

2 SubmittersRCV000667720

NM_000277.3(PAH):c.523C>T (p.Pro175Ser)

SNV
Germline

Chr12:102855319

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_199475604

2 SubmittersRCV000671178

NM_000277.3(PAH):c.510-2A>G

SNV
Germline

Chr12:102855334

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1555204750

5 SubmittersRCV000666780

NM_000277.3(PAH):c.441+1G>C

SNV
Germline

Chr12:102877461

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62517166

2 SubmittersRCV000672959

NM_000277.3(PAH):c.301G>A (p.Asp101Asn)

SNV
Germline

Chr12:102894786

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1555207979

5 SubmittersRCV000669377

NM_000277.3(PAH):c.169-2A>G

SNV
Germline

Chr12:102894920

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1226613045

7 SubmittersRCV000670987

NM_000277.3(PAH):c.913-2A>C

SNV
Germline

Chr12:102846953

Pathogenic/Likely pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555203951

2 SubmittersRCV000668382

NM_000277.3(PAH):c.910C>T (p.Gln304Ter)

SNV
Germline

Chr12:102851689

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1555204295

4 SubmittersRCV000674358

NM_000277.3(PAH):c.443G>T (p.Gly148Val)

SNV
Germline

Chr12:102866662

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1555205655

2 SubmittersRCV000667958

NM_000277.3(PAH):c.1199+2T>G

SNV
Germline

Chr12:102843644

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62508737

2 SubmittersRCV000673497

NM_000277.3(PAH):c.800A>G (p.Gln267Arg)

SNV
Germline

Chr12:102852857

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_778154939

2 SubmittersRCV000672289

NM_000277.3(PAH):c.689T>C (p.Val230Ala)

SNV
Germline

Chr12:102855153

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_199475673

3 SubmittersRCV000673567

NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)

SNV
Germline

Chr12:102855224

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62517201

6 SubmittersRCV000672692

NM_000277.3(PAH):c.463C>T (p.Arg155Cys)

SNV
Germline

Chr12:102866642

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_539743701

7 SubmittersRCV000669560

NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)

SNV
Germline

Chr12:102840459

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_752255985

5 SubmittersRCV000667759

NM_000277.3(PAH):c.870T>G (p.His290Gln)

SNV
Germline

Chr12:102851729

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_751203209

2 SubmittersRCV000674910

NM_000277.3(PAH):c.828G>A (p.Met276Ile)

SNV
Germline

Chr12:102852829

Conflicting classifications of pathogenicity

Phenylketonuria

Criteria Provided
Conflicting Classifications

rs_62514954

2 SubmittersRCV000666601

NM_000277.3(PAH):c.668A>T (p.Asn223Ile)

SNV
Germline

Chr12:102855174

Likely pathogenic

Phenylketonuria
PAH-related disorder

Reviewed By Expert Panel

rs_201245932

3 SubmittersRCV000664486 RCV003420168

NM_000277.3(PAH):c.505C>G (p.Arg169Gly)

SNV
Germline

Chr12:102866600

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_281865440

2 SubmittersRCV000666071

NM_000277.3(PAH):c.127G>T (p.Glu43Ter)

SNV
Germline

Chr12:102912832

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1555209575

2 SubmittersRCV000673220

NM_000277.3(PAH):c.60+1G>C

SNV
Unknown

Chr12:102917070

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_1555209932

1 SubmittersRCV000669188

NM_000277.3(PAH):c.3G>C (p.Met1Ile)

SNV
Germline

Chr12:102917128

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62514893

3 SubmittersRCV000709702

NM_000277.3(PAH):c.970-1G>C

SNV
Germline

Chr12:102844432

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

rs_202183605

2 SubmittersRCV000731213 RCV003316802

NM_000277.3(PAH):c.1216A>G (p.Ile406Val)

SNV
Germline

Chr12:102840499

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_749613899

3 SubmittersRCV000758135

NM_000277.3(PAH):c.859C>G (p.Leu287Val)

SNV
Germline

Chr12:102851740

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_781096854

1 SubmittersRCV000758129

NM_000277.3(PAH):c.813T>G (p.His271Gln)

SNV
Germline

Chr12:102852844

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1565846764

1 SubmittersRCV000758104

NM_000277.3(PAH):c.803A>G (p.Tyr268Cys)

SNV
Germline

Chr12:102852854

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1565846805

2 SubmittersRCV000758130

NM_000277.3(PAH):c.788T>C (p.Phe263Ser)

SNV
Germline

Chr12:102852869

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1565846863

1 SubmittersRCV000758097

NM_000277.3(PAH):c.773T>C (p.Leu258Pro)

SNV
Germline

Chr12:102852884

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1565846899

1 SubmittersRCV000758119

NM_000277.3(PAH):c.712A>G (p.Thr238Ala)

SNV
Germline

Chr12:102852945

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_199475577

2 SubmittersRCV000758131

NM_000277.3(PAH):c.697T>A (p.Phe233Ile)

SNV
Germline

Chr12:102855145

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1565848061

1 SubmittersRCV000758127

NM_000277.3(PAH):c.694C>G (p.Gln232Glu)

SNV
Germline

Chr12:102855148

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62507348

1 SubmittersRCV000758123

NM_000277.3(PAH):c.224A>T (p.Asp75Val)

SNV
Germline

Chr12:102894863

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1565866547

1 SubmittersRCV000758113

NM_000277.3(PAH):c.224A>G (p.Asp75Gly)

SNV
Germline

Chr12:102894863

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1565866547

1 SubmittersRCV000758118

NM_000277.3(PAH):c.136G>C (p.Gly46Arg)

SNV
Germline

Chr12:102912823

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_74603784

1 SubmittersRCV000758110

NM_000277.3(PAH):c.461A>T (p.Tyr154Phe)

SNV
Germline

Chr12:102866644

Likely pathogenic

Condition: not provided
Phenylketonuria

Reviewed By Expert Panel

rs_1565853526

3 SubmittersRCV000759178 RCV001093514

NM_000277.3(PAH):c.1304A>T (p.Asp435Val)

SNV
Germline

Chr12:102840411

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1592945394

3 SubmittersRCV000796569

NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)

SNV
Germline

Chr12:102843736

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1592947508

4 SubmittersRCV000850225

NM_000277.3(PAH):c.1102G>A (p.Glu368Lys)

SNV
Germline

Chr12:102843743

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1488232864

3 SubmittersRCV000850224

NM_000277.3(PAH):c.590T>A (p.Leu197Ter)

SNV
Germline

Chr12:102855252

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_886042078

2 SubmittersRCV000850223

NM_000277.3(PAH):c.32T>A (p.Leu11Ter)

SNV
Germline

Chr12:102917099

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1346707834

2 SubmittersRCV000850222

NM_000277.3(PAH):c.1200-2A>C

SNV
Germline

Chr12:102840517

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1592945607

2 SubmittersRCV000850221

NM_000277.3(PAH):c.875C>T (p.Pro292Leu)

SNV
Germline

Chr12:102851724

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1200240274

2 SubmittersRCV000768445

NM_000277.3(PAH):c.1316-1G>A

SNV
Germline

Chr12:102839219

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1592944816

2 SubmittersRCV000851536

NM_000277.3(PAH):c.1262T>G (p.Ile421Ser)

SNV
Germline

Chr12:102840453

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_199475696

3 SubmittersRCV000792932

NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)

SNV
Germline

Chr12:102843722

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_184148104

5 SubmittersRCV000817803

NM_000277.3(PAH):c.799C>T (p.Gln267Ter)

SNV
Germline

Chr12:102852858

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_199475676

2 SubmittersRCV000823427

NM_000277.3(PAH):c.516G>T (p.Gln172His)

SNV
Germline

Chr12:102855326

Likely pathogenic

Phenylketonuria
Condition: not provided
Inborn genetic diseases

Reviewed By Expert Panel

rs_192592111

6 SubmittersRCV000822749 RCV001574524 RCV003243346

NM_000277.3(PAH):c.223G>A (p.Asp75Asn)

SNV
Germline

Chr12:102894864

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_767453024

1 SubmittersRCV000805522

NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)

SNV
Germline

Chr12:102844391

Conflicting classifications of pathogenicity

Phenylketonuria
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_62517206

3 SubmittersRCV000941282 RCV004029712

NM_000277.3(PAH):c.1085C>G (p.Pro362Arg)

SNV
Unknown

Chr12:102843760

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_1592947563

1 SubmittersRCV000988898

NM_000277.3(PAH):c.903G>T (p.Gln301His)

SNV
Germline

Chr12:102851696

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1592952179

1 SubmittersRCV000993643

NM_000277.3(PAH):c.902A>C (p.Gln301Pro)

SNV
Germline

Chr12:102851697

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1592952183

1 SubmittersRCV000993642

NM_000277.3(PAH):c.901C>T (p.Gln301Ter)

SNV
Germline

Chr12:102851698

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1057520732

1 SubmittersRCV000993641

NM_000277.3(PAH):c.890G>T (p.Arg297Leu)

SNV
Germline

Chr12:102851709

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62642939

3 SubmittersRCV000993640

NM_000277.3(PAH):c.868C>T (p.His290Tyr)

SNV
Germline

Chr12:102851731

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1486763160

2 SubmittersRCV000993602

NM_000277.3(PAH):c.494C>A (p.Ala165Asp)

SNV
Germline

Chr12:102866611

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1592961381

1 SubmittersRCV000993635

NM_000277.3(PAH):c.292T>G (p.Leu98Val)

SNV
Germline

Chr12:102894795

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1592978725

1 SubmittersRCV000993634

NM_000277.3(PAH):c.168+2T>C

SNV
Germline

Chr12:102912789

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1025860114

1 SubmittersRCV000993645

NM_000277.3(PAH):c.168+1G>T

SNV
Germline

Chr12:102912790

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62514898

1 SubmittersRCV000993644

NM_000277.3(PAH):c.60+4A>T

SNV
Germline

Chr12:102917067

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1592991145

1 SubmittersRCV000993601

NM_000277.3(PAH):c.1339G>A (p.Ala447Thr)

SNV
Germline

Chr12:102839195

Pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1192400891

2 SubmittersRCV001062679

NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)

SNV
Germline

Chr12:102843671

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_180819807

8 SubmittersRCV001058418

NM_000277.3(PAH):c.516G>C (p.Gln172His)

SNV
Germline

Chr12:102855326

Likely pathogenic

Phenylketonuria
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_192592111

2 SubmittersRCV001048823 RCV004545029

NM_000277.3(PAH):c.1200-2A>G

SNV
Germline

Chr12:102840517

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1592945607

5 SubmittersRCV001069317

NM_000277.3(PAH):c.353-1G>A

SNV
Germline

Chr12:102877551

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_1876628530

1 SubmittersRCV001061595

NM_000277.3(PAH):c.913-2A>G

SNV
Germline

Chr12:102846953

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1555203951

2 SubmittersRCV001044810

NM_000277.3(PAH):c.1200-1G>C

SNV
Germline

Chr12:102840516

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62507322

1 SubmittersRCV001093524

NM_000277.3(PAH):c.1146C>G (p.Phe382Leu)

SNV
Germline

Chr12:102843699

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1874691554

1 SubmittersRCV001093510

NM_000277.3(PAH):c.1066-1G>T

SNV
Germline

Chr12:102843780

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62508684

2 SubmittersRCV001093523

NM_000277.3(PAH):c.1066-1G>C

SNV
Germline

Chr12:102843780

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62508684

1 SubmittersRCV001093522

NM_000277.3(PAH):c.1029T>A (p.Tyr343Ter)

SNV
Germline

Chr12:102844372

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1874735553

1 SubmittersRCV001093520

NM_000277.3(PAH):c.443G>A (p.Gly148Asp)

SNV
Germline

Chr12:102866662

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1555205655

2 SubmittersRCV001093513

NM_000277.3(PAH):c.353-2A>G

SNV
Germline

Chr12:102877552

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1876628624

1 SubmittersRCV001093521

NM_000277.3(PAH):c.185T>C (p.Leu62Pro)

SNV
Germline

Chr12:102894902

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1877437661

1 SubmittersRCV001093519

NM_000277.3(PAH):c.1161C>A (p.Tyr387Ter)

SNV
Germline

Chr12:102843684

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_149595475

2 SubmittersRCV001194128

NM_000277.3(PAH):c.532G>A (p.Glu178Lys)

SNV
Germline

Chr12:102855310

Pathogenic

not specified
Phenylketonuria

Reviewed By Expert Panel

rs_1448720360

4 SubmittersRCV001193452 RCV001375893

NM_000277.3(PAH):c.1318G>T (p.Glu440Ter)

SNV
Germline

Chr12:102839216

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1874485021

1 SubmittersRCV001200010

NM_000277.3(PAH):c.1316-2A>C

SNV
Germline

Chr12:102839220

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_760830761

2 SubmittersRCV001199996

NM_000277.3(PAH):c.1259G>T (p.Arg420Met)

SNV
Germline

Chr12:102840456

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_767075719

5 SubmittersRCV001200002

NM_000277.3(PAH):c.1228T>A (p.Phe410Ile)

SNV
Germline

Chr12:102840487

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1874543567

1 SubmittersRCV001200016

NM_000277.3(PAH):c.1129T>G (p.Tyr377Asp)

SNV
Germline

Chr12:102843716

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1874693635

1 SubmittersRCV001200015

NM_000277.3(PAH):c.1118C>A (p.Ala373Asp)

SNV
Germline

Chr12:102843727

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1874694965

1 SubmittersRCV001199986

NM_000277.3(PAH):c.1043T>C (p.Leu348Pro)

SNV
Germline

Chr12:102844358

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1874733519

1 SubmittersRCV001199977

NM_000277.3(PAH):c.1027T>A (p.Tyr343Asn)

SNV
Germline

Chr12:102844374

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62508651

1 SubmittersRCV001199981

NM_000277.3(PAH):c.970-1G>T

SNV
Germline

Chr12:102844432

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_202183605

1 SubmittersRCV001200007

NM_000277.3(PAH):c.970-2A>G

SNV
Germline

Chr12:102844433

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62517199

1 SubmittersRCV001200008

NM_000277.3(PAH):c.833C>G (p.Thr278Ser)

SNV
Germline

Chr12:102852824

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62507262

1 SubmittersRCV001199979

NM_000277.3(PAH):c.795C>A (p.Cys265Ter)

SNV
Germline

Chr12:102852862

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1231529155

1 SubmittersRCV001199984

NM_000277.3(PAH):c.755G>C (p.Arg252Pro)

SNV
Germline

Chr12:102852902

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62644503

2 SubmittersRCV001199976

NM_000277.3(PAH):c.676C>A (p.Gln226Lys)

SNV
Germline

Chr12:102855166

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62508696

2 SubmittersRCV001199975

NM_000277.3(PAH):c.674C>T (p.Pro225Leu)

SNV
Germline

Chr12:102855168

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62517204

1 SubmittersRCV001200014

NM_000277.3(PAH):c.659A>C (p.His220Pro)

SNV
Germline

Chr12:102855183

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1592954413

1 SubmittersRCV001200013

NM_000277.3(PAH):c.505C>A (p.Arg169Ser)

SNV
Germline

Chr12:102866600

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_281865440

3 SubmittersRCV001199992

NM_000277.3(PAH):c.253A>T (p.Lys85Ter)

SNV
Germline

Chr12:102894834

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1877430029

1 SubmittersRCV001199993

NM_000277.3(PAH):c.60+5G>C

SNV
Germline

Chr12:102917066

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62514895

1 SubmittersRCV001200018

NM_000277.3(PAH):c.1161C>G (p.Tyr387Ter)

SNV
Germline

Chr12:102843684

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_149595475

1 SubmittersRCV001215227

NM_000277.3(PAH):c.547G>T (p.Glu183Ter)

SNV
Germline

Chr12:102855295

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_199475664

1 SubmittersRCV001223829

NM_000277.3(PAH):c.510T>G (p.His170Gln)

SNV
Germline

Chr12:102855332

Pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_199475652

5 SubmittersRCV001215065

NM_000277.3(PAH):c.1253C>T (p.Thr418Ile)

SNV
Germline

Chr12:102840462

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_1874539947

1 SubmittersRCV001207037

NM_000277.3(PAH):c.1238G>A (p.Arg413His)

SNV
Germline

Chr12:102840477

Pathogenic/Likely pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_79931499

3 SubmittersRCV001210291

NM_000277.3(PAH):c.969+2T>G

SNV
Germline

Chr12:102846893

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_1477313214

1 SubmittersRCV001204516

NM_000277.3(PAH):c.1187A>G (p.Lys396Arg)

SNV
Germline

Chr12:102843658

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_776178623

3 SubmittersRCV001236942

NM_000277.3(PAH):c.843-5T>C

SNV
Germline

Chr12:102851761

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1875163630

3 SubmittersRCV001264614

NM_000277.3(PAH):c.682G>T (p.Glu228Ter)

SNV
Germline

Chr12:102855160

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_281865444

1 SubmittersRCV001269044

NM_000277.3(PAH):c.1271T>A (p.Leu424Ter)

SNV
Germline

Chr12:102840444

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_199475670

1 SubmittersRCV001269048

NM_000277.3(PAH):c.441+2T>A

SNV
Germline

Chr12:102877460

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1876618843

2 SubmittersRCV001269054

NM_000277.3(PAH):c.510-1G>A

SNV
Germline

Chr12:102855333

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1875377960

1 SubmittersRCV001269058

NM_000277.3(PAH):c.912+1G>T

SNV
Germline

Chr12:102851686

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62514956

1 SubmittersRCV001269059

NM_000277.3(PAH):c.912+1G>C

SNV
Germline

Chr12:102851686

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62514956

1 SubmittersRCV001269061

NM_000277.3(PAH):c.209C>T (p.Ser70Phe)

SNV
Germline

Chr12:102894878

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1877434368

1 SubmittersRCV001269066

NM_000277.3(PAH):c.1200-3T>G

SNV
Germline

Chr12:102840518

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1874550090

1 SubmittersRCV001269067

NM_000277.3(PAH):c.223G>C (p.Asp75His)

SNV
Germline

Chr12:102894864

Likely pathogenic

Phenylketonuria
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Propionic acidemia

Reviewed By Expert Panel

rs_767453024

3 SubmittersRCV001269068 RCV004526825 RCV004545164

NM_000277.3(PAH):c.1199+4A>G

SNV
Germline

Chr12:102843642

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1471682834

2 SubmittersRCV001269070

NM_000277.3(PAH):c.707-1G>C

SNV
Germline

Chr12:102852951

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62507269

1 SubmittersRCV001269073

NM_000277.3(PAH):c.169-1G>A

SNV
Germline

Chr12:102894919

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1877439517

1 SubmittersRCV001269074

NM_000277.3(PAH):c.441+2T>G

SNV
Germline

Chr12:102877460

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1876618843

1 SubmittersRCV001269075

NM_000277.3(PAH):c.804C>A (p.Tyr268Ter)

SNV
Germline

Chr12:102852853

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_748337823

2 SubmittersRCV001269081

NM_000277.3(PAH):c.462C>A (p.Tyr154Ter)

SNV
Germline

Chr12:102866643

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1191473722

3 SubmittersRCV001269276

NM_000277.3(PAH):c.364C>T (p.Pro122Ser)

SNV
Germline

Chr12:102877539

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1466564208

2 SubmittersRCV001269311

NM_000277.3(PAH):c.1200G>T (p.Arg400Ser)

SNV
Germline

Chr12:102840515

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1874549626

1 SubmittersRCV001269313

NM_000277.3(PAH):c.1097C>T (p.Pro366Leu)

SNV
Germline

Chr12:102843748

Conflicting classifications of pathogenicity

Condition: not provided
Phenylketonuria

Criteria Provided
Conflicting Classifications

rs_62516098

2 SubmittersRCV001284319 RCV002537932

NM_000277.3(PAH):c.510-5T>A

SNV
Germline

Chr12:102855337

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_1875378128

2 SubmittersRCV001318515

NM_000277.3(PAH):c.1071C>A (p.Cys357Ter)

SNV
Germline

Chr12:102843774

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_766107583

1 SubmittersRCV001375888

NM_000277.3(PAH):c.847A>G (p.Ile283Val)

SNV
Germline

Chr12:102851752

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62517168

1 SubmittersRCV001375899

NM_000277.3(PAH):c.843-1G>A

SNV
Germline

Chr12:102851757

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1373264140

1 SubmittersRCV001375891

NM_000277.3(PAH):c.679C>G (p.Leu227Val)

SNV
Germline

Chr12:102855163

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_2136649242

1 SubmittersRCV001375897

NM_000277.3(PAH):c.563G>T (p.Gly188Val)

SNV
Germline

Chr12:102855279

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_199475689

1 SubmittersRCV001375884

NM_000277.3(PAH):c.442-1G>C

SNV
Germline

Chr12:102866664

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62514907

2 SubmittersRCV001375890

NM_000277.3(PAH):c.1096C>T (p.Pro366Ser)

SNV
Germline

Chr12:102843749

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_2136635839

1 SubmittersRCV001378239

NM_000277.3(PAH):c.859C>A (p.Leu287Met)

SNV
Germline

Chr12:102851740

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_781096854

1 SubmittersRCV001379708

NM_000277.3(PAH):c.789C>A (p.Phe263Leu)

SNV
Germline

Chr12:102852868

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_62642944

1 SubmittersRCV001377752

NM_000277.3(PAH):c.1029T>G (p.Tyr343Ter)

SNV
Germline

Chr12:102844372

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_1874735553

1 SubmittersRCV001387432

NM_000277.3(PAH):c.544G>A (p.Glu182Lys)

SNV
Germline

Chr12:102855298

Pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136649777

2 SubmittersRCV001389170

NM_000277.3(PAH):c.1199+502A>T

SNV
Germline

Chr12:102843144

Pathogenic

Phenylketonuria

No Assertion Criteria Provided

rs_2136634974

1 SubmittersRCV001449883

NM_000277.3(PAH):c.1065+241C>A

SNV
Germline

Chr12:102844095

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_2136636327

2 SubmittersRCV001449884

NM_000277.3(PAH):c.706+368T>C

SNV
Germline

Chr12:102854768

Likely pathogenic

Phenylketonuria

No Assertion Criteria Provided

rs_2136648640

1 SubmittersRCV001449885

NM_000277.3(PAH):c.910C>A (p.Gln304Lys)

SNV
Germline

Chr12:102851689

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1555204295

1 SubmittersRCV001543641

NM_000277.3(PAH):c.461A>G (p.Tyr154Cys)

SNV
Germline

Chr12:102866644

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1565853526

2 SubmittersRCV001543644

NM_000277.3(PAH):c.1243G>T (p.Asp415Tyr)

SNV
Germline

Chr12:102840472

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62644499

1 SubmittersRCV001789809

NM_000277.3(PAH):c.605C>T (p.Ala202Val)

SNV
Germline

Chr12:102855237

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_2136649533

1 SubmittersRCV001789810

NM_000277.3(PAH):c.1301C>T (p.Ala434Val)

SNV
Germline

Chr12:102840414

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_199475659

1 SubmittersRCV001789812

NM_000277.3(PAH):c.1250A>G (p.Tyr417Cys)

SNV
Germline

Chr12:102840465

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1371700813

2 SubmittersRCV001789813

NM_000277.3(PAH):c.1249T>G (p.Tyr417Asp)

SNV
Germline

Chr12:102840466

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62644471

1 SubmittersRCV001789814

NM_000277.3(PAH):c.1159T>G (p.Tyr387Asp)

SNV
Germline

Chr12:102843686

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62517194

1 SubmittersRCV001789815

NM_000277.3(PAH):c.1115C>G (p.Thr372Arg)

SNV
Germline

Chr12:102843730

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_2136635740

1 SubmittersRCV001789816

NM_000277.3(PAH):c.1066-7C>A

SNV
Germline

Chr12:102843786

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1242756437

1 SubmittersRCV001789817

NM_000277.3(PAH):c.730C>T (p.Pro244Ser)

SNV
Germline

Chr12:102852927

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_2136646392

1 SubmittersRCV001789819

NM_000277.3(PAH):c.699C>G (p.Phe233Leu)

SNV
Germline

Chr12:102855143

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62517208

1 SubmittersRCV001789820

NM_000277.3(PAH):c.680T>A (p.Leu227Gln)

SNV
Germline

Chr12:102855162

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_2136649239

1 SubmittersRCV001789821

NM_000277.3(PAH):c.1076C>T (p.Ser359Leu)

SNV
Germline

Chr12:102843769

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_5030854

2 SubmittersRCV001789823

NM_000277.3(PAH):c.1105C>G (p.Leu369Val)

SNV
Germline

Chr12:102843740

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_2136635779

2 SubmittersRCV001789826

NM_000277.3(PAH):c.1081A>C (p.Lys361Gln)

SNV
Germline

Chr12:102843764

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_772918939

1 SubmittersRCV001789827

NM_000277.3(PAH):c.925G>A (p.Ala309Thr)

SNV
Germline

Chr12:102846939

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1205657950

1 SubmittersRCV001789829

NM_000088.4(COL1A1):c.1877G>A (p.Gly626Asp)

SNV
Germline

Chr17:50192692

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_2144563979

1 SubmittersRCV001806326

NM_000277.3(PAH):c.842C>A (p.Pro281His)

SNV
Germline

Chr12:102852815

Pathogenic/Likely pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_5030851

2 SubmittersRCV001814820

NM_000277.3(PAH):c.1259G>C (p.Arg420Thr)

SNV
Germline

Chr12:102840456

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_767075719

1 SubmittersRCV002024160

NM_000277.3(PAH):c.511G>C (p.Gly171Arg)

SNV
Germline

Chr12:102855331

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_199475613

1 SubmittersRCV001897836

NM_000277.3(PAH):c.320A>C (p.His107Pro)

SNV
Germline

Chr12:102894767

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_542645236

1 SubmittersRCV002038848

NM_000277.3(PAH):c.886G>A (p.Asp296Asn)

SNV
Germline

Chr12:102851713

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_765934604

1 SubmittersRCV001984332

NM_000277.3(PAH):c.1013A>C (p.Asp338Ala)

SNV
Germline

Chr12:102844388

Conflicting classifications of pathogenicity

Phenylketonuria
not specified

Criteria Provided
Conflicting Classifications

rs_1169310686

2 SubmittersRCV001988402 RCV003317565

NM_000277.3(PAH):c.938C>A (p.Ala313Glu)

SNV
Germline

Chr12:102846926

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_62642914

1 SubmittersRCV002014335

NM_000277.3(PAH):c.666T>G (p.Asp222Glu)

SNV
Germline

Chr12:102855176

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_1263259211

1 SubmittersRCV001992017

NM_000277.3(PAH):c.805A>G (p.Ile269Val)

SNV
Germline

Chr12:102852852

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_62508692

1 SubmittersRCV002031543

NM_000277.3(PAH):c.125A>G (p.Lys42Arg)

SNV
Germline

Chr12:102912834

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_62635346

1 SubmittersRCV002019669

NM_000277.3(PAH):c.435C>A (p.Asp145Glu)

SNV
Germline

Chr12:102877468

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_1375045653

1 SubmittersRCV002045342

NM_000277.3(PAH):c.557C>T (p.Thr186Ile)

SNV
Germline

Chr12:102855285

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_1875371404

1 SubmittersRCV002047826

NM_000277.3(PAH):c.212G>C (p.Arg71Pro)

SNV
Germline

Chr12:102894875

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_62508695

1 SubmittersRCV001994069

NM_000277.3(PAH):c.157C>A (p.Arg53Ser)

SNV
Germline

Chr12:102912802

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_199475619

1 SubmittersRCV001990771

NM_000277.3(PAH):c.632C>A (p.Pro211Gln)

SNV
Germline

Chr12:102855210

Likely pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_281865443

2 SubmittersRCV002022060

NM_000277.3(PAH):c.168+2T>A

SNV
Germline

Chr12:102912789

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_1025860114

1 SubmittersRCV001939690

NM_000277.3(PAH):c.308G>A (p.Gly103Asp)

SNV
Germline

Chr12:102894779

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_2136701578

1 SubmittersRCV001941587

NM_000277.3(PAH):c.721C>A (p.Arg241Ser)

SNV
Germline

Chr12:102852936

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_76687508

1 SubmittersRCV002005780

NM_000277.3(PAH):c.509A>C (p.His170Pro)

SNV
Germline

Chr12:102866596

Conflicting classifications of pathogenicity

Phenylketonuria
not specified

Criteria Provided
Conflicting Classifications

rs_199475573

2 SubmittersRCV001986924 RCV003402026

NM_000277.3(PAH):c.925G>T (p.Ala309Ser)

SNV
Germline

Chr12:102846939

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_1205657950

1 SubmittersRCV001970548

NM_000277.3(PAH):c.428A>T (p.Asp143Val)

SNV
Germline

Chr12:102877475

Pathogenic/Likely pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_199475572

2 SubmittersRCV002014138

NM_000277.3(PAH):c.935G>T (p.Gly312Val)

SNV
Germline

Chr12:102846929

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_62642915

3 SubmittersRCV001972839

NM_000277.3(PAH):c.842C>G (p.Pro281Arg)

SNV
Germline

Chr12:102852815

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_5030851

1 SubmittersRCV001972840

NM_000277.3(PAH):c.562G>A (p.Gly188Ser)

SNV
Germline

Chr12:102855280

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_2136649680

1 SubmittersRCV002018434

NM_000277.3(PAH):c.1192A>T (p.Lys398Ter)

SNV
Germline

Chr12:102843653

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_2136635468

1 SubmittersRCV001888179

NM_000277.3(PAH):c.603T>G (p.His201Gln)

SNV
Germline

Chr12:102855239

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_751977644

2 SubmittersRCV001951415

NM_000277.3(PAH):c.182A>G (p.Asn61Ser)

SNV
Germline

Chr12:102894905

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_2136702181

1 SubmittersRCV002029638

NM_000277.3(PAH):c.467C>G (p.Ala156Gly)

SNV
Germline

Chr12:102866638

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_570748767

1 SubmittersRCV002008996

NM_000277.3(PAH):c.614A>G (p.Glu205Gly)

SNV
Germline

Chr12:102855228

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_62508593

1 SubmittersRCV001986456

NM_000277.3(PAH):c.467C>T (p.Ala156Val)

SNV
Germline

Chr12:102866638

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_570748767

1 SubmittersRCV001979309

NM_000277.3(PAH):c.703C>T (p.Gln235Ter)

SNV
Germline

Chr12:102855139

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1237792711

2 SubmittersRCV002260490

NM_000277.3(PAH):c.920G>A (p.Gly307Asp)

SNV
Germline

Chr12:102846944

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_2136639683

2 SubmittersRCV002260494

NM_000277.3(PAH):c.1078G>T (p.Glu360Ter)

SNV
Germline

Chr12:102843767

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_2136635903

1 SubmittersRCV002260495

NM_000277.3(PAH):c.998T>C (p.Leu333Pro)

SNV
Germline

Chr12:102844403

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_1344368175

1 SubmittersRCV002260498

NM_000277.3(PAH):c.196G>A (p.Glu66Lys)

SNV
Germline

Chr12:102894891

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_281865454

1 SubmittersRCV002260502

NM_000277.3(PAH):c.1244A>T (p.Asp415Val)

SNV
Germline

Chr12:102840471

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

rs_2136632085

1 SubmittersRCV002260504

NM_000277.3(PAH):c.148A>T (p.Lys50Ter)

SNV
Unknown

Chr12:102912811

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002306556

NM_000277.3(PAH):c.1087A>T (p.Lys363Ter)

SNV
Unknown

Chr12:102843758

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002306590

NM_000277.3(PAH):c.1111A>T (p.Lys371Ter)

SNV
Unknown

Chr12:102843734

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002309972

NM_000277.3(PAH):c.337A>T (p.Lys113Ter)

SNV
Unknown

Chr12:102894750

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002307944

NM_000277.3(PAH):c.640G>T (p.Glu214Ter)

SNV
Unknown

Chr12:102855202

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002306918

NM_000277.3(PAH):c.1081A>T (p.Lys361Ter)

SNV
Unknown

Chr12:102843764

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002310216

NM_000277.3(PAH):c.706+531T>C

SNV
Germline

Chr12:102854605

Likely pathogenic

Phenylketonuria

No Assertion Criteria Provided

1 SubmittersRCV002462822

NM_000277.3(PAH):c.706+608A>C

SNV
Germline

Chr12:102854528

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002462823

NM_000277.3(PAH):c.1084C>T (p.Pro362Ser)

SNV
Germline

Chr12:102843761

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV002509868

NM_000277.3(PAH):c.311C>T (p.Ala104Val)

SNV
Germline

Chr12:102894776

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV002509871

NM_000277.3(PAH):c.442-2A>G

SNV
Germline

Chr12:102866665

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV002509872

NM_000277.3(PAH):c.1016C>T (p.Ser339Phe)

SNV
Germline

Chr12:102844385

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV002509874

NM_000277.3(PAH):c.1023G>C (p.Lys341Asn)

SNV
Germline

Chr12:102844378

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV002509875

NM_000277.3(PAH):c.1242C>A (p.Tyr414Ter)

SNV
Germline

Chr12:102840473

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV002509877

NM_000277.3(PAH):c.510-1G>C

SNV
Germline

Chr12:102855333

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV002509878

NM_000277.3(PAH):c.1316-1G>C

SNV
Germline

Chr12:102839219

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV002509879

NM_000277.3(PAH):c.1199+1G>T

SNV
Germline

Chr12:102843645

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV002509880

NM_000277.3(PAH):c.913-5T>C

SNV
Germline

Chr12:102846956

Conflicting classifications of pathogenicity

Phenylketonuria
PAH-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003070966 RCV003953829

NM_000277.3(PAH):c.670A>C (p.Ile224Leu)

SNV
Germline

Chr12:102855172

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003052722

NM_000277.3(PAH):c.1172G>T (p.Ser391Ile)

SNV
Germline

Chr12:102843673

Pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003062533

NM_000277.3(PAH):c.839A>C (p.Glu280Ala)

SNV
Germline

Chr12:102852818

Pathogenic

Phenylketonuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003041167 RCV003229102

NM_000277.3(PAH):c.521T>A (p.Ile174Asn)

SNV
Germline

Chr12:102855321

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003041168

NM_000277.3(PAH):c.361T>C (p.Phe121Leu)

SNV
Germline

Chr12:102877542

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003062537

NM_000277.3(PAH):c.211C>T (p.Arg71Cys)

SNV
Germline

Chr12:102894876

Likely pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003058394

NM_000277.3(PAH):c.827T>C (p.Met276Thr)

SNV
Germline

Chr12:102852830

Pathogenic/Likely pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003079148

NM_000277.3(PAH):c.641A>G (p.Glu214Gly)

SNV
Germline

Chr12:102855201

Likely pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003061591

NM_000277.3(PAH):c.670A>G (p.Ile224Val)

SNV
Germline

Chr12:102855172

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003077826

NM_000277.3(PAH):c.780C>G (p.Phe260Leu)

SNV
Germline

Chr12:102852877

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003112260

NM_000277.3(PAH):c.1258A>G (p.Arg420Gly)

SNV
Germline

Chr12:102840457

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003116040

NM_000277.3(PAH):c.650G>T (p.Cys217Phe)

SNV
Germline

Chr12:102855192

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002601709

NM_000277.3(PAH):c.515A>G (p.Gln172Arg)

SNV
Germline

Chr12:102855327

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002795207

NM_000277.3(PAH):c.920G>T (p.Gly307Val)

SNV
Germline

Chr12:102846944

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002857028

NM_000277.3(PAH):c.870T>A (p.His290Gln)

SNV
Germline

Chr12:102851729

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002894650

NM_000277.3(PAH):c.899C>G (p.Ala300Gly)

SNV
Germline

Chr12:102851700

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002971501

NM_000277.3(PAH):c.200C>A (p.Ser67Tyr)

SNV
Germline

Chr12:102894887

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003034020

NM_000277.3(PAH):c.556A>G (p.Thr186Ala)

SNV
Germline

Chr12:102855286

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003038667

NM_000277.3(PAH):c.1049C>G (p.Ser350Cys)

SNV
Germline

Chr12:102844352

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003041524

NM_000277.3(PAH):c.946G>T (p.Glu316Ter)

SNV
Germline

Chr12:102846918

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003131110

NM_000277.3(PAH):c.994G>A (p.Gly332Arg)

SNV
Germline

Chr12:102844407

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

2 SubmittersRCV003316901

NM_000277.3(PAH):c.604G>A (p.Ala202Thr)

SNV
Germline

Chr12:102855238

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV003316902

NM_000277.3(PAH):c.199T>G (p.Ser67Ala)

SNV
Germline

Chr12:102894888

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

rs_5030842

1 SubmittersRCV003328729

NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)

SNV
Germline

Chr12:102844399

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

2 SubmittersRCV003476584

NM_000277.3(PAH):c.72T>A (p.Tyr24Ter)

SNV
Unknown

Chr12:102912887

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003476585

NM_000277.3(PAH):c.797C>T (p.Thr266Ile)

SNV
Unknown

Chr12:102852860

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003471652

NM_000277.3(PAH):c.506G>T (p.Arg169Leu)

SNV
Germline

Chr12:102866599

Pathogenic

Phenylketonuria

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003471653

NM_000277.3(PAH):c.578C>T (p.Thr193Ile)

SNV
Unknown

Chr12:102855264

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003476588

NM_000277.3(PAH):c.929C>G (p.Ser310Cys)

SNV
Unknown

Chr12:102846935

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003476589

NM_000277.3(PAH):c.594T>G (p.Tyr198Ter)

SNV
Germline

Chr12:102855248

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV003479532

NM_000277.3(PAH):c.1232C>G (p.Ser411Ter)

SNV
Germline

Chr12:102840483

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV003479536

NM_000277.3(PAH):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr12:102866627

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV003479539

NM_000277.3(PAH):c.1154T>C (p.Leu385Pro)

SNV
Germline

Chr12:102843691

Likely pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV003479540

NM_000277.3(PAH):c.353-2A>T

SNV
Germline

Chr12:102877552

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV003479541

NM_000277.3(PAH):c.971T>A (p.Ile324Asn)

SNV
Germline

Chr12:102844430

Pathogenic

Phenylketonuria

Reviewed By Expert Panel

1 SubmittersRCV003479543

NM_000277.3(PAH):c.1253C>A (p.Thr418Asn)

SNV
Germline

Chr12:102840462

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003494676

NM_000277.3(PAH):c.1085C>T (p.Pro362Leu)

SNV
Germline

Chr12:102843760

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003494677

NM_000277.3(PAH):c.707-2A>T

SNV
Germline

Chr12:102852952

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003494812

NM_000277.3(PAH):c.472C>G (p.Arg158Gly)

SNV
Germline

Chr12:102866633

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003598234

NM_000277.3(PAH):c.1013A>T (p.Asp338Val)

SNV
Germline

Chr12:102844388

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003598381

NM_000277.3(PAH):c.713C>T (p.Thr238Ile)

SNV
Germline

Chr12:102852944

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003599024

NM_000277.3(PAH):c.811C>A (p.His271Asn)

SNV
Germline

Chr12:102852846

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003599095

NM_000277.3(PAH):c.835C>A (p.Pro279Thr)

SNV
Germline

Chr12:102852822

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003597939

NM_000277.3(PAH):c.265C>A (p.Pro89Thr)

SNV
Germline

Chr12:102894822

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003598634

NM_000277.3(PAH):c.1189G>T (p.Glu397Ter)

SNV
Germline

Chr12:102843656

Pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003988462

NM_000277.3(PAH):c.130G>T (p.Glu44Ter)

SNV
Unknown

Chr12:102912829

Likely pathogenic

Phenylketonuria

Criteria Provided
Single Submitter

1 SubmittersRCV004574421