Full data view for gene PAH

Information The variants shown are described using the NM_000277.1 transcript reference sequence.

480 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-81C>T r.(?) p.(=) Unknown - likely benign g.103310989G>A g.102917211G>A - - PAH_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>G r.(?) p.(Met1?) Parent #1 - pathogenic g.103310908T>C g.102917130T>C - - PAH_000178 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62514891 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. - c.1A>T r.(?) p.? Both (homozygous) - pathogenic (recessive) g.103310908T>A g.102917130T>A - - PAH_000217 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat42 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Veracruz - 0 - - 1 Liliana Fernández
+/. - c.1A>T r.(?) p.? Parent #1 - pathogenic (recessive) g.103310908T>A g.102917130T>A - - PAH_000217 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat43 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Veracruz - 0 - - 1 Liliana Fernández
+/. - c.1A>T r.(?) p.? Parent #1 - pathogenic (recessive) g.103310908T>A g.102917130T>A - - PAH_000217 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat44 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - 0 - - 1 Liliana Fernández
+/. - c.1A>T r.(?) p.? Parent #1 - pathogenic (recessive) g.103310908T>A g.102917130T>A - - PAH_000217 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat45 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Veracruz - 0 - - 1 Liliana Fernández
+/. 1 c.23del r.(?) p.(Asn8Thrfs*30) Parent #1 ACMG pathogenic (recessive) g.103310889del g.102917111del - - PAH_000192 - - - - Unknown - 1/142 patients - 0 - DNA SEQ dried blood spot - PKU Pat46 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - F no Mexico Chihuahua - 0 - nutritional treatment 1 Liliana Fernández
-?/. - c.30C>G r.(?) p.(Gly10=) Unknown - likely benign g.103310879G>C g.102917101G>C PAH(NM_000277.1):c.30C>G (p.G10=) - PAH_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.47_48del r.(?) p.(Ser16Ter) Unknown - pathogenic g.103310865_103310866del g.102917087_102917088del PAH(NM_000277.1):c.46_47delCT (p.S16*) - PAH_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.60+5G>T r.spl? p.? Unknown - pathogenic g.103310844C>A g.102917066C>A PAH(NM_000277.3):c.60+5G>T - PAH_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat1 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat2 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat3 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat4 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat5 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat6 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat7 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat8 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat9 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Edo Mex - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat10 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat11 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Puebla - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat12 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat13 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Aguascalientes - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat14 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat15 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Edo Mex - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat16 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Baja California Sur - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat17 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat18 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Guanajuato - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat19 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Guanajuato - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat20 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Yucatan - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat21 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat22 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat23 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Baja California - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat24 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat25 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico CDMX - 0 - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat26 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - 0 - - 1 Liliana Fernández
-/. - c.60+62C>T r.(=) p.(=) Unknown - benign g.103310787G>A g.102917009G>A PAH(NM_000277.3):c.60+62C>T - PAH_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.60+62C>T r.(=) p.(=) Unknown - benign g.103310787G>A g.102917009G>A PAH(NM_000277.3):c.60+62C>T - PAH_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.61-907T>C r.(=) p.(=) Unknown - benign g.103307583A>G g.102913805A>G PAH(NM_000277.3):c.61-907T>C - PAH_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.116_118del r.(?) p.(Phe39del) Parent #1 - pathogenic (recessive) g.103306622_103306624del g.102912844_102912846del - - PAH_000216 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat117 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - 0 - - 1 Liliana Fernández
+/. - c.117C>G r.(?) p.(Phe39Leu) Parent #1 - pathogenic (recessive) g.103306620G>C - - - PAH_000182 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES PKU M010 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.117C>G r.(?) p.(Phe39Leu) Parent #1 - pathogenic (recessive) g.103306620G>C g.102912842G>C - - PAH_000182 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat47 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Chihuahua - 0 - - 1 Liliana Fernández
+/. - c.117C>G r.(?) p.(Phe39Leu) Parent #1 - pathogenic (recessive) g.103306620G>C g.102912842G>C - - PAH_000182 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat48 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Durango - 0 - - 1 Liliana Fernández
+/. - c.142T>C r.(?) p.(Leu48=) Unknown - pathogenic g.103306595A>G g.102912817A>G PAH(NM_000277.1):c.142T>C (p.L48=) - PAH_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.143T>C r.(?) p.(Leu48Ser) Unknown - pathogenic g.103306594A>G g.102912816A>G PAH(NM_000277.3):c.143T>C (p.L48S) - PAH_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.158G>A r.(?) p.(Arg53His) Unknown - VUS g.103306579C>T g.102912801C>T PAH(NM_000277.1):c.158G>A (p.R53H) - PAH_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.158G>A r.(?) p.(Arg53His) Paternal (confirmed) - pathogenic g.103306579C>T g.102912801C>T - - PAH_000134 - - - - Germline - - - 0 - DNA SEQ-NG-I - - PKU - - - - - - - - - - - 1 Belen Perez
?/. - c.158G>A r.(?) p.(Arg53His) Parent #1 - VUS g.103306579C>T g.102912801C>T - - PAH_000134 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118092776 Germline - 13/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 13 Mohammed Faruq
+?/. - c.162A>T r.(?) p.(Leu54Phe) Unknown - likely pathogenic g.103306575T>A g.102912797T>A - - PAH_000170 - - - - Germline - - - 0 - DNA SEQ - - PKU - - - F - Argentina - - 0 - - 1 Ana Chiesa
+/. - c.165del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del - - PAH_000215 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat49 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Durango - 0 - - 1 Liliana Fernández
+/. - c.165del r.(?) p.(Phe55LeufsTer6) Parent #2 - pathogenic (recessive) g.103306574del g.102912796del - - PAH_000215 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat62 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Chihuahua - 0 - - 1 Liliana Fernández
+/. - c.165T>G r.(?) p.(Phe55Leu) Parent #1 - pathogenic (recessive) g.103306572A>C g.102912794A>C - - PAH_000214 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat50 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Chihuahua - 0 - - 1 Liliana Fernández
+/. - c.168+5G>C r.spl? p.? Unknown - pathogenic g.103306564C>G g.102912786C>G PAH(NM_000277.3):c.168+5G>C - PAH_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat51 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Chihuahua - 0 - - 1 Liliana Fernández
-/. - c.168+19T>C r.(=) p.(=) Unknown - benign g.103306550A>G g.102912772A>G PAH(NM_000277.3):c.168+19T>C - PAH_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.168+19T>C r.(=) p.(=) Unknown - benign g.103306550A>G g.102912772A>G PAH(NM_000277.3):c.168+19T>C - PAH_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.168+19T>C r.(=) p.(=) Unknown - benign g.103306550A>G g.102912772A>G PAH(NM_000277.3):c.168+19T>C - PAH_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.194T>C r.(?) p.(Ile65Thr) Unknown - pathogenic g.103288671A>G g.102894893A>G PAH(NM_000277.3):c.194T>C (p.I65T) - PAH_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.194T>C r.(?) p.(Ile65Thr) Unknown - pathogenic g.103288671A>G g.102894893A>G PAH(NM_000277.3):c.194T>C (p.I65T) - PAH_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G - - - PAH_000145 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES PKU M005 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Both (homozygous) - pathogenic (recessive) g.103288671A>G - - - PAH_000145 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES PKU M011 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
+?/. - c.194T>C r.(?) p.(Ile65Thr) Paternal (confirmed) - likely pathogenic (recessive) g.103288671A>G - - - PAH_000145 - - - - Germline - - - - - DNA SEQ-NG - WES PKU 038P - - M no Spain - - - - - 1 Alejandro Brea-Fernández
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat32 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Zacatecas - 0 - - 1 Liliana Fernández
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat33 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Queretaro - 0 - - 1 Liliana Fernández
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat52 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Zacatecas - 0 - - 1 Liliana Fernández
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat53 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Sonora - 0 - - 1 Liliana Fernández
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #2 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat49 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Durango - 0 - - 1 Liliana Fernández
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #2 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat103 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Morelos - 0 - - 1 Liliana Fernández
+?/. - c.194T>C r.(?) p.(Ile65Thr) Unknown - likely pathogenic g.103288671A>G - PAH(NM_000277.3):c.194T>C (p.I65T) - PAH_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.204A>T r.(?) p.(Arg68Ser) Unknown - pathogenic g.103288661T>A g.102894883T>A PAH(NM_000277.3):c.204A>T (p.R68S) - PAH_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat54 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico CDMX - 0 - - 1 Liliana Fernández
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat55 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Queretaro - 0 - - 1 Liliana Fernández
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat56 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Veracruz - 0 - - 1 Liliana Fernández
+/. - c.208_210del r.(?) p.(Ser70del) Parent #1 - pathogenic (recessive) g.103288657_103288659del g.102894879_102894881del - - PAH_000191 - PubMed: Jin 2021 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WGS PKU Pat03 PubMed: Jin 2021 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.208_210del r.(?) p.(Ser70del) Parent #1 - pathogenic (recessive) g.103288657_103288659del g.102894879_102894881del - - PAH_000191 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat57 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Nuevo León - 0 - - 1 Liliana Fernández
+/. - c.208_210del r.(?) p.(Ser70del) Parent #2 - pathogenic (recessive) g.103288657_103288659del g.102894879_102894881del - - PAH_000191 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat50 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Chihuahua - 0 - - 1 Liliana Fernández
+/. - c.208_210del r.(?) p.(Ser70del) Parent #2 - pathogenic (recessive) g.103288657_103288659del g.102894879_102894881del - - PAH_000191 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat52 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Zacatecas - 0 - - 1 Liliana Fernández
?/. - c.212G>A r.(?) p.(Arg71His) Parent #1 - VUS g.103288653C>T g.102894875C>T - - PAH_000177 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62508695 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. - c.223G>A r.(?) p.(Asp75Asn) Unknown - pathogenic g.103288642C>T g.102894864C>T PAH(NM_000277.3):c.223G>A (p.D75N) - PAH_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.261C>A r.(?) p.(Ser87Arg) Unknown - pathogenic g.103288604G>T g.102894826G>T PAH(NM_000277.1):c.261C>A (p.S87R), PAH(NM_000277.3):c.261C>A (p.S87R) - PAH_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.261C>A r.(?) p.(Ser87Arg) Parent #1 - likely pathogenic g.103288604G>T g.102894826G>T - - PAH_000166 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62516151 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. - c.261C>A r.(?) p.(Ser87Arg) Unknown - pathogenic g.103288604G>T - PAH(NM_000277.1):c.261C>A (p.S87R), PAH(NM_000277.3):c.261C>A (p.S87R) - PAH_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.284_286del r.(?) p.(Ile95del) Parent #2 - pathogenic (recessive) g.103288579_103288581del - - - PAH_000181 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES PKU M004 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.289A>C r.(?) p.(Ile97Leu) Unknown - likely benign g.103288576T>G g.102894798T>G PAH(NM_000277.1):c.289A>C (p.I97L) - PAH_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.293T>C r.(?) p.(Leu98Ser) Unknown - pathogenic g.103288572A>G g.102894794A>G PAH(NM_000277.3):c.293T>C (p.L98S) - PAH_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.299A>G r.(?) p.(His100Arg) Unknown - likely benign g.103288566T>C g.102894788T>C PAH(NM_000277.1):c.299A>G (p.H100R) - PAH_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.311C>A r.(?) p.(Ala104Asp) Unknown - pathogenic g.103288554G>T g.102894776G>T PAH(NM_000277.3):c.311C>A (p.A104D) - PAH_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.311C>A r.(?) p.(Ala104Asp) Unknown - pathogenic g.103288554G>T g.102894776G>T PAH(NM_000277.3):c.311C>A (p.A104D) - PAH_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.320A>C r.(?) p.(His107Pro) Unknown - pathogenic g.103288545T>G g.102894767T>G PAH(NM_000277.3):c.320A>C (p.H107P) - PAH_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.331C>T r.(?) p.(Arg111Ter) Unknown - pathogenic g.103288534G>A g.102894756G>A PAH(NM_000277.3):c.331C>T (p.R111*) - PAH_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.331C>T r.(?) p.(Arg111Ter) Unknown - pathogenic g.103288534G>A g.102894756G>A PAH(NM_000277.3):c.331C>T (p.R111*) - PAH_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.353-22C>T r.(=) p.(=) Unknown - benign g.103271350G>A g.102877572G>A - - PAH_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.355C>T r.(?) p.(Pro119Ser) Unknown - pathogenic g.103271326G>A g.102877548G>A PAH(NM_000277.3):c.355C>T (p.P119S) - PAH_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.385G>T r.(?) p.(Asp129Tyr) Parent #1 - likely pathogenic g.103271296C>A g.102877518C>A - - PAH_000176 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199475606 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+/. - c.439C>T r.(?) p.(Pro147Ser) Parent #1 - pathogenic (recessive) g.103271242G>A g.102877464G>A - - PAH_000213 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat58 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - 1 Liliana Fernández
+/. - c.439C>T r.(?) p.(Pro147Ser) Parent #1 - pathogenic (recessive) g.103271242G>A g.102877464G>A - - PAH_000213 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat59 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Michoacan - 0 - - 1 Liliana Fernández
?/? 4i c.441+1G>A r.spl? p.? Parent #1 - pathogenic g.103271239C>T g.102877461C>T - - PAH_000009 - PubMed: Sterl 2013 - - Unknown yes - - 0 - DNA PCR, SEQ - - PKU - data copied from the BIOPKU database - - - Austria - - 0 - - 1 Johan den Dunnen
+/. - c.441+1G>A r.spl? p.? Unknown - pathogenic g.103271239C>T g.102877461C>T PAH(NM_000277.3):c.441+1G>A - PAH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.441+5G>T r.spl? p.? Unknown - likely pathogenic g.103271235C>A g.102877457C>A - - PAH_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat34 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Tamaulipas - 0 - - 1 Liliana Fernández
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