Full data view for gene IDUA

Information The variants shown are described using the NM_000203.3 transcript reference sequence.

534 entries on 6 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     
./. _1_14_ c.-909321_*2377456del r.0 p.0 Unknown - pathogenic g.71552_3375637del - - - IDUA_000000 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+/. _1_2i c.(?_-88)_(299+1_300-1)del r.0? p.0? Parent #2 - pathogenic g.(?_980785)_(981738_994399)del - - - IDUA_000062 - - - - Germline - - - - - DNA MLPA - - MPS1H - - - F no - - - - - - 1 Jill Urquhart
+?/. _1_14_ c.(?_-88)_(*136_?)del r.(?) p.0? Parent #1 - likely pathogenic g.(?_980785)_(998317_?)del - - - IDUA_000061 - - - - Germline - - - - - DNA MLPA - - MPS1H - - - F no - - - - - - 1 Jill Urquhart
+?/. 1 c.-87T>C r.=|<1 p.(=) Maternal (confirmed) - VUS g.980786T>C g.986998T>C - - IDUA_000278 variant causes allelic expression imbalance; no IDUA activity PubMed: Soriano-Sexto 2022, Journal: Soriano-Sexto 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat2 PubMed: Soriano-Sexto 2022, Journal: Soriano-Sexto 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Spain - - - - - 1 Johan den Dunnen
?/. - c.-72G>C r.(?) p.(=) Unknown - VUS g.980801G>C g.987013G>C - - IDUA_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.1A>C r.(?) p.(Met1?) Both (homozygous) - VUS g.980873A>C g.987085A>C - - IDUA_000001 Protein published as p.(Met1?), mutation previously reported as due to a c.3G>A by {PMID9391892:Lee-Chen and Wang 1997} PubMed: Bertola 2011 - - Germline - - - - - DNA SEQ - - MPS1HS - PubMed: Bertola 2011 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
+/. - c.1A>C r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.980873A>C g.987085A>C - - IDUA_000001 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS1-Pat1 PubMed: Cobos 2015 - M - Armenia - - - - - 1 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.0? Both (homozygous) - pathogenic g.980873A>G g.987085A>G - - IDUA_000056 - - - - Germline - - - - - DNA SEQ - - MPS1H - - - - - India - - - - - 1 Arunabha Ghosh
+/. 1 c.1A>G r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.980873A>G g.987085A>G - - IDUA_000056 - PubMed: Uttarilli 2016 - - Germline - - - - - DNA SEQ - - MPS IDUA-1 PubMed: Uttarilli 2016 - F no India - - - - - 1 Johan den Dunnen
?/. 1 c.2T>C r.(?) p.(Met1?) Parent #1 - VUS g.980874T>C g.987086T>C - - IDUA_000222 - PubMed: Chuang 2018 - - Germline - 1/294,196 newborn infants - - - DNA SEQ - - Healthy/Control IDUA-1 PubMed: Chuang 2018 tandem mass spectrometry analysis 294,196 newborn infants F - Taiwan - - - - - 1 Johan den Dunnen
+/. 1 c.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic (recessive) g.980874T>C g.987086T>C - - IDUA_000222 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat1 PubMed: Fang 2022 - M - China - - - - - 1 Johan den Dunnen
+?/. - c.3G>A r.(?) p.? Unknown - likely pathogenic g.980875G>A - IDUA(NM_000203.5):c.3G>A (p.(Met1?)) - IDUA_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11T>C r.(?) p.(Leu4Pro) Unknown - VUS g.980883T>C - IDUA(NM_000203.3):c.11T>C (p.(Leu4Pro)), IDUA(NM_000203.5):c.11T>C (p.L4P) - IDUA_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.11T>C r.(?) p.(Leu4Pro) Unknown - likely benign g.980883T>C - IDUA(NM_000203.3):c.11T>C (p.(Leu4Pro)), IDUA(NM_000203.5):c.11T>C (p.L4P) - IDUA_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.17_24dup r.(?) p.(Ala9Profs*102) Unknown - pathogenic g.980889_980896dup g.987101_987108dup 17_24dupCCCGCGCC - IDUA_000057 - - - - Germline - - - - - DNA SEQ - - MPS1HS - - - M - United Kingdom (Great Britain) - - - - - 1 Arunabha Ghosh
-/. - c.24C>A r.(?) p.(Ala8=) Unknown - benign g.980896C>A g.987108C>A IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.4):c.576+4020G>T - IDUA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.24C>A r.(?) p.(Ala8=) Unknown - benign g.980896C>A g.987108C>A IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.4):c.576+4020G>T - IDUA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.24C>A r.(?) p.(Ala8=) Unknown - benign g.980896C>A g.987108C>A IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.4):c.576+4020G>T - IDUA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.24C>A r.(?) p.(Ala8=) Unknown - benign g.980896C>A g.987108C>A IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.4):c.576+4020G>T - IDUA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.24C>A r.(?) p.(Ala8=) Unknown - benign g.980896C>A - IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.4):c.576+4020G>T - IDUA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31C>G r.(?) p.(Leu11Val) Unknown - VUS g.980903C>G - IDUA(NM_000203.5):c.31C>G (p.(Leu11Val)) - IDUA_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31_32insGGGCGCTCC r.(?) p.(Leu10_Leu11insArgAlaLeu) Unknown - VUS g.980903_980904insGGGCGCTCC - IDUA(NM_000203.5):c.31_32insGGGCGCTCC (p.(Leu10_Leu11insArgAlaLeu)) - IDUA_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36G>T r.(?) p.(Ala12=) Unknown - likely benign g.980908G>T - IDUA(NM_000203.5):c.36G>T (p.A12=) - IDUA_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.36_44del r.(?) p.(Leu13_Ala15del) Unknown - likely pathogenic g.980908_980916del g.987120_987128del 36_44delGCTCCTGGC - IDUA_000058 - - - - Germline - - - - - DNA SEQ - - MPS1H - - - M - United Kingdom (Great Britain) - - - - - 1 Arunabha Ghosh
?/. - c.36_44dup r.(?) p.(Leu13_Ala15dup) Unknown - VUS g.980908_980916dup - IDUA(NM_000203.5):c.36_44dupGCTCCTGGC (p.L13_A15dup) - IDUA_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.41T>G r.(?) p.(Leu14Arg) Unknown - likely pathogenic g.980913T>G g.987125T>G - - IDUA_000059 - - - - Germline - - - - - DNA SEQ - - MPS1H - - - M - United Kingdom (Great Britain) - - - - - 1 Arunabha Ghosh
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) Parent #1 - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Bunge 1994 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) Parent #1 - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - - - DNA SEQ - - MPS1HS - PubMed: Bunge 1994 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) Parent #1 - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - - - DNA SEQ - - Scheie;MPS1S - PubMed: Bunge 1994 - - - Poland Polish - - - - 1 Gerard C.P. Schaafsma
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) Both (homozygous) - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - - - DNA SEQ - - MPS1HS - PubMed: Bunge 1994 - - - Turkey Turkish - - - - 1 Gerard C.P. Schaafsma
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) Both (homozygous) - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - - - DNA SEQ - - MPS1HS - PubMed: Bunge 1994 - - - Turkey Turkish - - - - 1 Gerard C.P. Schaafsma
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) Parent #2 - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - - - DNA SEQ - - Scheie;MPS1S - PubMed: Scott 1992 - - - Poland Polish - - - - 1 Gerard C.P. Schaafsma
+/. - c.46_57del r.(?) p.(Ser16_Ala19del) Unknown - pathogenic g.980918_980929del g.987130_987141del IDUA(NM_000203.5):c.46_57delTCGCTCCTGGCC (p.S16_A19del) - IDUA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.46_57del r.(?) p.(Ser16_Ala19del) Parent #1 - pathogenic (recessive) g.980918_980929del g.987130_987141del 46_57del12bp - IDUA_000003 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat2 PubMed: Fang 2022 - M - China - - - - - 1 Johan den Dunnen
-?/. - c.60G>A r.(?) p.(Ala20=) Unknown - likely benign g.980932G>A g.987144G>A IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.60G>A r.(?) p.(Ala20=) Unknown - benign g.980932G>A g.987144G>A IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.60G>A r.(?) p.(Ala20=) Unknown - benign g.980932G>A g.987144G>A IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.60G>A r.(?) p.(Ala20=) Unknown - benign g.980932G>A g.987144G>A IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.60G>A r.(?) p.(Ala20=) Unknown - benign g.980932G>A g.987144G>A IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.60G>A r.(?) p.(Ala20=) Unknown - benign g.980932G>A - IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.64C>T r.(?) p.(Pro22Ser) Parent #1 - pathogenic (recessive) g.980936C>T g.987148C>T - - IDUA_000223 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS1-Pat15 PubMed: Cobos 2015 - M - Serbia - - - - - 1 Johan den Dunnen
?/. 1 c.76G>A r.(?) p.(Ala26Thr) Parent #1 - VUS g.980948G>A g.987160G>A - - IDUA_000137 - PubMed: Chuang 2018 - - Germline - 1/294,196 newborn infants - - - DNA SEQ - - Healthy/Control IDUA-2 PubMed: Chuang 2018 tandem mass spectrometry analysis 294,196 newborn infants F - Taiwan - - - - - 1 Johan den Dunnen
-/. - c.99T>G r.(?) p.(His33Gln) Unknown - benign g.980971T>G g.987183T>G IDUA(NM_000203.5):c.99T>G (p.H33Q), SLC26A1(NM_134425.4):c.576+3945A>C - IDUA_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.99T>G r.(?) p.(His33Gln) Unknown - benign g.980971T>G g.987183T>G IDUA(NM_000203.5):c.99T>G (p.H33Q), SLC26A1(NM_134425.4):c.576+3945A>C - IDUA_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.99T>G r.(?) p.(His33Gln) Unknown - benign g.980971T>G g.987183T>G IDUA(NM_000203.5):c.99T>G (p.H33Q), SLC26A1(NM_134425.4):c.576+3945A>C - IDUA_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.99T>G r.(?) p.(His33Gln) Unknown - benign g.980971T>G - IDUA(NM_000203.5):c.99T>G (p.H33Q), SLC26A1(NM_134425.4):c.576+3945A>C - IDUA_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.141G>C r.(?) p.(Trp47Cys) Unknown - VUS g.981013G>C g.987225G>C IDUA(NM_000203.5):c.141G>C (p.W47C) - IDUA_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Both (homozygous) - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Bunge 1994 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Parent #1 - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - DNA SEQ - - MPS1HS - PubMed: Bunge 1994 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Parent #1 - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Bunge 1994 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Parent #1 - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - DNA SEQ - - Scheie;MPS1S - PubMed: Bunge 1994 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Parent #1 - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - DNA SEQ - - Scheie;MPS1S - PubMed: Bunge 1994 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Both (homozygous) - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Bunge 1994 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Parent #1 - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Bunge 1994 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Parent #1 - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - DNA SEQ - - MPS1HS - PubMed: Bunge 1994 - - - Spain Spanish - - - - 1 Gerard C.P. Schaafsma
+/. - c.152G>A r.(?) p.(Gly51Asp) Parent #1 - pathogenic g.981024G>A g.987236G>A - - IDUA_000002 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794726877 Germline - 6/2775 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
+/. 1i c.158+1G>A r.spl p.? Unknown - pathogenic g.981031G>A g.987243G>A - - IDUA_000066 - - - - Germline - - - - - DNA SEQ - - MPS1H - - - F - United Kingdom (Great Britain) - - - - - 1 Arunabha Ghosh
+/. - c.158+1G>A r.spl? p.? Unknown - pathogenic g.981031G>A g.987243G>A IDUA(NM_000203.5):c.158+1G>A - IDUA_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.158+5delinsAA r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.981035delinsAA g.987247delinsAA - - IDUA_000224 - PubMed: Uttarilli 2016 - - Germline - - - - - DNA SEQ - - MPS IDUA-14 PubMed: Uttarilli 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no India - - - - - 1 Johan den Dunnen
+/. - c.159-9T>A r.spl p.? Both (homozygous) ACMG pathogenic g.981588T>A g.987800T>A - - IDUA_000199 - - - - Uniparental disomy, paternal allele - - - - - DNA SEQ-NG - - MPS1 - - - M - China - - - - - 3 Lulu Yan
+/. - c.164del r.(?) p.(Pro55ArgfsTer53) Unknown - pathogenic g.981602del - IDUA(NM_000203.5):c.164delC (p.P55Rfs*53) - IDUA_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.164dup r.(?) p.(Leu56AlafsTer7) Unknown - pathogenic g.981602dup g.987814dup IDUA(NM_000203.5):c.164dupC (p.L56Afs*7) - IDUA_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.165dup r.(?) p.(Leu56AlafsTer7) Unknown - pathogenic g.981603dup g.987815dup IDUA(NM_000203.5):c.165dupG (p.L56Afs*7) - IDUA_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.175del r.(?) p.(Ser59AlafsTer49) Unknown ACMG likely pathogenic (recessive) g.981613del g.987825del - - IDUA_000191 ACMG PVS1, PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-923 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.192C>A r.(?) p.(Tyr64Ter) Unknown - pathogenic g.981630C>A g.987842C>A IDUA(NM_000203.5):c.192C>A (p.Y64*) - IDUA_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.203G>A r.(?) p.(Trp68Ter) Both (homozygous) - pathogenic (recessive) g.981641G>A g.987853G>A - - IDUA_000225 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS1-Pat16 PubMed: Cobos 2015 - F - Turkey - - - - - 1 Johan den Dunnen
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - Scheie;MPS1S - PubMed: Scott 1992 - - - Poland Polish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1HS - PubMed: Scott 1992 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - Scheie;MPS1S - PubMed: Scott 1992 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Italy Italian - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Poland Polish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Poland Polish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Poland Polish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1HS - PubMed: Scott 1992 - - - Poland Polish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - Scheie;MPS1S - PubMed: Scott 1992 - - - Poland Polish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - Scheie;MPS1S - PubMed: Scott 1992 - - - Poland Polish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Poland Polish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Poland Polish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Poland Polish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Poland Polish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Poland Polish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1HS - PubMed: Scott 1992 - - - Poland Polish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Spain Spanish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Spain Spanish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Spain Spanish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Turkey Turkish - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Hungary Hungarian - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1H - PubMed: Scott 1992 - - - Serbia Serbian - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #2 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - DNA SEQ - - MPS1HS - PubMed: Bertola 2011 - - - Turkey Turkish - - - - 1 Gerard C.P. Schaafsma
+/. 2 c.208C>T r.(?) p.(Gln70*) Unknown - pathogenic g.981646C>T g.987858C>T - - IDUA_000004 - - - rs121965020 Germline - - - - - DNA SEQ - - MPS1H - - - ? - United Kingdom (Great Britain) - - - - - 1 Arunabha Ghosh
+/. 2 c.208C>T r.(?) p.(Gln70*) Unknown - pathogenic g.981646C>T g.987858C>T - - IDUA_000004 - - - rs121965020 Germline - - - - - DNA SEQ - - MPS1H - - - M - Latvia - - - - - 1 Arunabha Ghosh
+/. - c.208C>T r.(?) p.(Gln70Ter) Unknown - pathogenic g.981646C>T g.987858C>T IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*) - IDUA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.208C>T r.(?) p.(Gln70Ter) Unknown - pathogenic g.981646C>T g.987858C>T IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*) - IDUA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.208C>T r.(?) p.(Gln70Ter) Unknown - pathogenic g.981646C>T g.987858C>T IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*) - IDUA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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