Full data view for gene PUS3

Information The variants shown are described using the NM_031307.3 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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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.-2480T>C r.(?) p.(=) Unknown - likely benign g.125775498A>G g.125905603A>G DDX25(NM_013264.4):c.175+6A>G (p.(=)) - HYLS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-47+3A>G r.spl? p.? Unknown - likely benign g.125773062T>C g.125903167T>C PUS3(NM_001271985.1):c.-247+3A>G (p.(=)) - HYLS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.-47+3A>G r.spl p.? Parent #1 - pathogenic (recessive) g.125773062T>C g.125903167T>C - - HYLS1_000006 - PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamAPat1 PubMed: Nostvik 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
?/. - c.-47+2907_-47+2909del r.(=) p.(=) Unknown - VUS g.125770159_125770161del - HYLS1(NM_001134793.2):c.896_898del (p.(Ser299del)) - HYLS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-47+2975C>A r.(=) p.(=) Unknown - VUS g.125770090G>T - HYLS1(NM_001134793.2):c.827G>T (p.(Arg276Leu)) - HYLS1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-47+2975C>T r.(=) p.(=) Unknown - VUS g.125770090G>A - HYLS1(NM_001134793.2):c.827G>A (p.(Arg276His)) - HYLS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-47+3077C>T r.(=) p.(=) Unknown - VUS g.125769988G>A - HYLS1(NM_001134793.2):c.725G>A (p.(Arg242Gln)) - HYLS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-47+3334T>C r.(=) p.(=) Unknown - benign g.125769731A>G g.125899836A>G HYLS1(NM_001134793.1):c.468A>G (p.L156=), HYLS1(NM_145014.2):c.468A>G (p.L156=) - HYLS1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-47+3334T>C r.(=) p.(=) Unknown - likely benign g.125769731A>G - HYLS1(NM_001134793.1):c.468A>G (p.L156=), HYLS1(NM_145014.2):c.468A>G (p.L156=) - HYLS1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-46-3339T>G r.(=) p.(=) Unknown - likely benign g.125769564A>C - HYLS1(NM_145014.2):c.301A>C (p.R101=) - HYLS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-46-3311C>A r.(=) p.(=) Unknown - benign g.125769536G>T - HYLS1(NM_145014.2):c.273G>T (p.K91N) - HYLS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-46-3129A>G r.(=) p.(=) Unknown - benign g.125769354T>C g.125899459T>C HYLS1(NM_001134793.2):c.91T>C (p.C31R), PUS3(NM_031307.4):c.-46-3129A>G - HYLS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-46-3093G>A r.(=) p.(=) Unknown - VUS g.125769318C>T g.125899423C>T HYLS1(NM_001134793.1):c.55C>T (p.R19*), HYLS1(NM_001134793.2):c.55C>T (p.(Arg19Ter)) - HYLS1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-46-3093G>A r.(=) p.(=) Unknown - VUS g.125769318C>T - HYLS1(NM_001134793.1):c.55C>T (p.R19*), HYLS1(NM_001134793.2):c.55C>T (p.(Arg19Ter)) - HYLS1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-46-3069del r.(=) p.(=) Unknown - pathogenic g.125769294del - HYLS1(NM_145014.2):c.31delT (p.W11Gfs*46) - HYLS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.3G>C r.(?) p.(Met1?) Parent #1 - pathogenic (recessive) g.125766177C>G g.125896282C>G - - PUS3_000016 - PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamBPat2 PubMed: Nostvik 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+/. 2 c.55C>T r.(?) p.(Arg19Ter) Parent #1 - pathogenic (recessive) g.125766125G>A g.125896230G>A - - PUS3_000015 - PubMed: Fang 2020, PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD ?;FamHPat10 PubMed: Fang 2020, PubMed: Nostvik 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
+/. 2 c.62T>G r.(?) p.(Leu21Arg) Both (homozygous) - pathogenic (recessive) g.125766118A>C g.125896223A>C - - PUS3_000014 - PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamCPat3 PubMed: Nostvik 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - 1 Johan den Dunnen
-?/. - c.158G>A r.(?) p.(Arg53His) Unknown - likely benign g.125766022C>T - PUS3(NM_031307.4):c.158G>A (p.R53H) - HYLS1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.212A>G r.(?) p.(Tyr71Cys) Parent #1 - pathogenic (recessive) g.125765968T>C g.125896073T>C - - PUS3_000013 - PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamDPat4 PubMed: Nostvik 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - 1 Johan den Dunnen
+/. 2 c.212A>G r.(?) p.(Tyr71Cys) Both (homozygous) - pathogenic (recessive) g.125765968T>C g.125896073T>C - - PUS3_000013 - Gulkovsky 2015 Biopolym Cell 31:123, PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD ?;FamGPat8 Gulkovsky 2015 Biopolym Cell 31:123, PubMed: Nostvik 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Ukraine - - - - - 2 Johan den Dunnen
+/. 2 c.212A>G r.(?) p.(Tyr71Cys) Both (homozygous) - pathogenic (recessive) g.125765968T>C g.125896073T>C - - PUS3_000013 - Gulkovsky 2015 Biopolym Cell 31:123, PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD ?;FamGPat9 Gulkovsky 2015 Biopolym Cell 31:123, PubMed: Nostvik 2021 brother M no Ukraine - - - - - 1 Johan den Dunnen
+?/. - c.212A>G r.(?) p.(Tyr71Cys) Both (homozygous) other VUS g.125765968T>C g.125896073T>C - - PUS3_000013 - PubMed: Lin 2022, Journal: Lin 2022 - - Germline yes 0,0000394 - - - DNA SEQ-NG-I peripheral blood (DNA) WES (TRIO) ? Pat1 PubMed: Lin 2022, Journal: Lin 2022 2-generation familly, 1 affected, unaffected heterozygous carrier parents M no Poland white >12y - - - 2 Rafał Płoski
+?/. - c.212A>G r.(?) p.(Tyr71Cys) Maternal (confirmed) other VUS g.125765968T>C g.125896073T>C - - PUS3_000013 - PubMed: Lin 2022, Journal: Lin 2022 - - Germline yes 0.,0000394 - - - DNA SEQ-NG-I peripheral blood (DNA) WES (TRIO) ? Pat3 PubMed: Lin 2022, Journal: Lin 2022 2-generation familly, 1 affected, unaffected heterozygous carrier parents M no Poland white >11y - - - 1 Rafał Płoski
+?/. - c.212A>G r.(?) p.(Tyr71Cys) Both (homozygous) other VUS g.125765968T>C g.125896073-T>C - - PUS3_000013 - PubMed: Lin 2022, Journal: Lin 2022 - - Germline yes - - - - DNA ? - - ? Pat2 PubMed: Lin 2022, Journal: Lin 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - >09y - - - 1 Rafał Płoski
+?/. - c.212A>G r.(?) p.(Tyr71Cys) Unknown - likely pathogenic g.125765968T>C - PUS3(NM_031307.4):c.212A>G (p.(Tyr71Cys)) - PUS3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.340T>C r.(?) p.(Cys114Arg) Parent #1 - pathogenic (recessive) g.125765840A>G g.125895945A>G - - PUS3_000012 - PubMed: Guo 2020, PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam10;FamJPat11 PubMed: Guo 2020, PubMed: Nostvik 2021 2-generation family, 4 affected fetuses (2F, 2M), unaffected heterozygous carrier parents F;M no China - - - - - 4 Johan den Dunnen
+/. - c.348_361del r.(?) p.(Arg116SerfsTer2) Both (homozygous) ACMG pathogenic (recessive) g.125765823_125765836del g.125895928_125895941del NM_001271985.1:c.348_361del (Arg116Serfs*2) - PUS3_000018 ACMG PVS1, PM2, PP3 PubMed: Borghesi 2022, Journal: Borghesi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD patient PubMed: Borghesi 2022, Journal: Borghesi 2022 5-generation family, 1 affected, unaffected heterozygous carrier second cousins parents/relatives F yes Italy Senegal 00y00m43d - - - 1 Johan den Dunnen
+/. 3 c.438_442del r.(?) p.(Asn146LysfsTer5) Parent #1 - pathogenic (recessive) g.125765624_125765628del g.125895729_125895733del c.438_442delTGTAA - PUS3_000011 - PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamEPat5 PubMed: Nostvik 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no - - - - - - 2 Johan den Dunnen
+/. 3 c.438_442del r.(?) p.(Asn146LysfsTer5) Parent #1 - pathogenic (recessive) g.125765624_125765628del g.125895729_125895733del c.438_442delTGTAA - PUS3_000011 - PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamEPat6 PubMed: Nostvik 2021 brother M no - - - - - - 1 Johan den Dunnen
+/. 3 c.479dup r.(?) p.(Tyr160Ter) Parent #2 - pathogenic (recessive) g.125765584dup g.125895689dup c.479dupA - PUS3_000010 - PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamAPat1 PubMed: Nostvik 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+/. 3 c.497G>A r.(?) p.(Arg166Gln) Parent #1 - pathogenic (recessive) g.125765566C>T g.125895671C>T - - PUS3_000009 - PubMed: Aldinger 2019 , PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD ?;FamKPat12 PubMed: Aldinger 2019 , PubMed: Nostvik 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 3 c.497G>A r.(?) p.(Arg166Gln) Parent #1 - pathogenic (recessive) g.125765566C>T g.125895671C>T - - PUS3_000009 - PubMed: Brandao de Paiva 2019, PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD ?;FamLPat13 PubMed: Brandao de Paiva 2019, PubMed: Nostvik 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Brazil - - - - - 2 Johan den Dunnen
+/. 3 c.497G>A r.(?) p.(Arg166Gln) Parent #1 - pathogenic (recessive) g.125765566C>T g.125895671C>T - - PUS3_000009 - PubMed: Brandao de Paiva 2019, PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD ?;FamLPat14 PubMed: Brandao de Paiva 2019, PubMed: Nostvik 2021 sister F no Brazil - - - - - 1 Johan den Dunnen
?/. - c.517C>T r.(?) p.(Arg173Cys) Unknown - VUS g.125765546G>A - PUS3(NM_031307.4):c.517C>T (p.(Arg173Cys)) - HYLS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.569G>A r.(?) p.(Cys190Tyr) Parent #2 - pathogenic (recessive) g.125765494C>T g.125895599C>T - - PUS3_000008 - PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamDPat4 PubMed: Nostvik 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - 1 Johan den Dunnen
+/. 3 c.569G>A r.(?) p.(Cys190Tyr) Parent #2 - pathogenic (recessive) g.125765494C>T g.125895599C>T - - PUS3_000008 - PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamFPat7 PubMed: Nostvik 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - 1 Johan den Dunnen
+/. 3 c.578G>A r.(?) p.(Arg193Gln) Parent #1 - pathogenic (recessive) g.125765485C>T g.125895590C>T - - PUS3_000007 - PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamFPat7 PubMed: Nostvik 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - 1 Johan den Dunnen
+/. 3 c.578G>A r.(?) p.(Arg193Gln) Parent #2 - pathogenic (recessive) g.125765485C>T g.125895590C>T - - PUS3_000007 - PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamBPat2 PubMed: Nostvik 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+/. 3 c.578G>A r.(?) p.(Arg193Gln) Parent #2 - pathogenic (recessive) g.125765485C>T g.125895590C>T - - PUS3_000007 - PubMed: Aldinger 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD ?;FamKPat12 PubMed: Aldinger 2019 , PubMed: Nostvik 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 3 c.620dup r.(?) p.(Thr208AsnfsTer14) Parent #2 - pathogenic (recessive) g.125765443dup g.125895548dup c.620dupT - PUS3_000006 - PubMed: Fang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD ?;FamHPat10 PubMed: Fang 2020, PubMed: Nostvik 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
+/. 3 c.835G>T r.(?) p.(Val279Phe) Parent #2 - pathogenic (recessive) g.125765228C>A g.125895333C>A - - PUS3_000005 - PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamEPat5 PubMed: Nostvik 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no - - - - - - 2 Johan den Dunnen
+/. 3 c.835G>T r.(?) p.(Val279Phe) Parent #2 - pathogenic (recessive) g.125765228C>A g.125895333C>A - - PUS3_000005 - PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamEPat6 PubMed: Nostvik 2021 brother M no - - - - - - 1 Johan den Dunnen
+/. 3 c.838C>T r.(?) p.(Arg280Ter) Parent #2 - pathogenic (recessive) g.125765225G>A g.125895330G>A - - PUS3_000004 - PubMed: Guo 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam10;FamJPat11 PubMed: Guo 2020, PubMed: Nostvik 2021 2-generation family, 4 affected fetuses (2F, 2M), unaffected heterozygous carrier parents F;M no China - - - - - 4 Johan den Dunnen
+?/. - c.896T>C r.(?) p.(Ile299Thr) Paternal (confirmed) ACMG VUS g.125765167A>G g.125895272A>G - - PUS3_000017 - PubMed: Lin 2022, Journal: Lin 2022 - - Germline yes 0.00000657 - - - DNA SEQ-NG-I peripheral blood (DNA) WES (TRIO) ? Pat3 PubMed: Lin 2022, Journal: Lin 2022 2-generation familly, 1 affected, unaffected heterozygous carrier parents M no Poland white >11y - - - 1 Rafał Płoski
+/. 4 c.1097T>C r.(?) p.(Leu366Pro) Parent #2 - pathogenic (recessive) g.125764029A>G g.125894134A>G - - PUS3_000003 - PubMed: Brandao de Paiva 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD ?;FamLPat13 PubMed: Brandao de Paiva 2019, PubMed: Nostvik 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Brazil - - - - - 2 Johan den Dunnen
+/. 4 c.1097T>C r.(?) p.(Leu366Pro) Parent #2 - pathogenic (recessive) g.125764029A>G g.125894134A>G - - PUS3_000003 - PubMed: Brandao de Paiva 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD ?;FamLPat14 PubMed: Brandao de Paiva 2019, PubMed: Nostvik 2021 sister F no Brazil - - - - - 1 Johan den Dunnen
+?/. - c.1181_1182del r.(?) p.(Ser394CysfsTer18) Both (homozygous) - likely pathogenic g.125763946_125763947del g.125894051_125894052del - - PUS3_000001 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 IMGAG
+/. - c.1181_1182del r.(?) p.(Ser394Cysfs*18) Both (homozygous) - pathogenic (recessive) g.125763946_125763947del g.125894051_125894052del 1181_1182delCT - PUS3_000001 - PubMed: Abdelrahman 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ID patient;FamMPat15 PubMed: Abdelrahman 2018, PubMed: Nostvik 2021 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Palestine - - - - - 1 Johan den Dunnen
+/. - c.1181_1182del r.(?) p.(Ser394Cysfs*18) Both (homozygous) - pathogenic (recessive) g.125763946_125763947del g.125894051_125894052del - - PUS3_000001 - PubMed: Froukh 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD FamTF046Pat1;FamNPat16 PubMed: Froukh 2020, PubMed: Nostvik 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Jordan - - - - - 2 Johan den Dunnen
+/. 4 c.1181_1182del r.(?) p.(Ser394CysfsTer18) Both (homozygous) - pathogenic (recessive) g.125763946_125763947del g.125894051_125894052del - - PUS3_000001 - PubMed: Froukh 2020, PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamTF046Pat2;FamNPat17 PubMed: Froukh 2020, PubMed: Nostvik 2021 sister F yes Jordan - - - - - 1 Johan den Dunnen
+/. - c.1303C>T r.(?) p.(Arg435*) Both (homozygous) - pathogenic (recessive) g.125763823G>A g.125893928G>A - - PUS3_000002 not in 1500 controls PubMed: Shaheen 2016 - - Germline yes - - - - DNA arraySNP, SEQ, SEQ-NG - WES ID FamPat1;FamPPat19 PubMed: Shaheen 2016, PubMed: Nostvik 2021 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - - - - 3 Johan den Dunnen
+/. 4 c.1303C>T r.(?) p.(Arg435Ter) Both (homozygous) - pathogenic (recessive) g.125763823G>A g.125893928G>A - - PUS3_000002 - PubMed: Alfares 2017, PubMed: Nostvik 2021 - rs774005569 Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat121;FamOPat18 PubMed: Alfares 2017, PubMed: Nostvik 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 4 c.1303C>T r.(?) p.(Arg435Ter) Both (homozygous) - pathogenic (recessive) g.125763823G>A g.125893928G>A - - PUS3_000002 - PubMed: Shaheen 2016, PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamPat2;FamPPat20 PubMed: Shaheen 2016, PubMed: Nostvik 2021 sister F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 4 c.1303C>T r.(?) p.(Arg435Ter) Both (homozygous) - pathogenic (recessive) g.125763823G>A g.125893928G>A - - PUS3_000002 - PubMed: Shaheen 2016, PubMed: Nostvik 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamPat3;FamPPat21 PubMed: Shaheen 2016, PubMed: Nostvik 2021 sister - yes Saudi Arabia - - - - - 1 Johan den Dunnen
-?/. - c.*2300_*2301dup r.(=) p.(=) Unknown - likely benign g.125761394_125761395dup - HYLS1(NM_145014.2):c.-81+26_-81+27dupAA, HYLS1(NM_145014.2):c.-81+27_-81+28dupAA - HYLS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2301dup r.(?) p.(=) Unknown - likely benign g.125761395dup - HYLS1(NM_145014.2):c.-81+28dupA - HYLS1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2302C>T r.(=) p.(=) Unknown - likely benign g.125761378G>A - HYLS1(NM_145014.2):c.-81+11G>A - HYLS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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