Full data view for gene ALDH18A1

Information The variants shown are described using the NM_002860.3 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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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.-28-2A>G r.spl? p.? Unknown - VUS g.97413164T>C g.95653407T>C - - ALDH18A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>G r.(?) p.? Unknown - VUS g.97413134T>C - ALDH18A1(NM_002860.3):c.1A>G (p.(Met1?)) - ALDH18A1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4T>C r.(?) p.(Leu2=) Unknown - likely benign g.97413131A>G - ALDH18A1(NM_001323413.1):c.4T>C (p.L2=) - ALDH18A1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.19C>T r.(?) p.(Arg7Cys) Unknown - VUS g.97413116G>A - ALDH18A1(NM_002860.4):c.19C>T (p.(Arg7Cys)) - ALDH18A1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.88C>T r.(?) p.(His30Tyr) Unknown - VUS g.97413047G>A - ALDH18A1(NM_002860.4):c.88C>T (p.(His30Tyr)) - ALDH18A1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.88+1G>A r.spl? p.? Unknown - likely pathogenic g.97413046C>T - ALDH18A1(NM_002860.4):c.88+1G>A - ALDH18A1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.88+3759A>T r.(=) p.(=) Unknown - likely benign g.97409288T>A - ALDH18A1(NM_002860.4):c.88+3759A>T - ALDH18A1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.157C>G r.(?) p.(Leu53Val) Unknown - likely benign g.97402895G>C - ALDH18A1(NM_001323413.1):c.157C>G (p.L53V) - ALDH18A1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.163C>T r.(?) p.(Arg55Cys) Unknown - VUS g.97402889G>A g.95643132G>A ALDH18A1(NM_002860.4):c.163C>T (p.R55C) - ALDH18A1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.177del r.(?) p.(Lys59Asnfs*9) Parent #2 - likely pathogenic g.97402875del g.95643118del - - ALDH18A1_000040 - PubMed: Lefebvre 2021 - - Germline - - - - - DNA SEQ-NG - WES ? - PubMed: Lefebvre 2021 fetus M - France - - - - - 1 Johan den Dunnen
?/. - c.232G>A r.(?) p.(Gly78Ser) Unknown - VUS g.97402820C>T g.95643063C>T - - ALDH18A1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.251G>A r.(?) p.(Arg84Gln) Both (homozygous) - pathogenic (recessive) g.97402801C>T g.95643044C>T - - ALDH18A1_000067 - PubMed: Alazami 2016 - - Germline - - - - - DNA arraySNP, SEQ, SEQ-NG - WES ? Fam3 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.332A>G r.(?) p.(Glu111Gly) Both (homozygous) - pathogenic (recessive) g.97397165T>C g.95637408T>C - - ALDH18A1_000066 - PubMed: Alazami 2016 - - Germline - - - - - DNA arraySNP, SEQ, SEQ-NG - WES ? Fam2 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - 1 Johan den Dunnen
?/. 4 c.382C>T r.(?) p.(Arg128Cys) Both (homozygous) - VUS g.97397115G>A g.95637358G>A - - ALDH18A1_000042 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4432 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.383G>A r.(?) p.(Arg128His) Unknown - VUS g.97397114C>T g.95637357C>T - - ALDH18A1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.412C>T r.(?) p.(Arg138Trp) Paternal (confirmed) - pathogenic g.97397085G>A g.95637328G>A - - ALDH18A1_000001 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 - - De novo - - - - - DNA SEQ - - DBS;ADCL - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Jordan - >02y06m - - - 1 Johan den Dunnen
+/. 4 c.412C>T r.(?) p.(Arg138Trp) Paternal (confirmed) - pathogenic g.97397085G>A g.95637328G>A - - ALDH18A1_000001 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 - - De novo - - - - - DNA SEQ - - DBS;ADCL - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Finland - >02y11m - - - 1 Johan den Dunnen
+/. 4 c.412C>T r.(?) p.(Arg138Trp) Parent #1 - pathogenic g.97397085G>A g.95637328G>A - - ALDH18A1_000001 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 - - De novo - - - - - DNA SEQ - - DBS;ADCL - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Netherlands - >02y - - - 1 Johan den Dunnen
+/. 4 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.97397084C>T g.95637327C>T - - ALDH18A1_000003 no DNA parents available PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 - - Unknown - - - - - DNA SEQ - - DBS;ADCL - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - United Arab Emirates - >13y - - - 1 Johan den Dunnen
+/. 4 c.413G>A r.(?) p.(Arg138Gln) Paternal (confirmed) - pathogenic g.97397084C>T g.95637327C>T - - ALDH18A1_000003 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 - - De novo - - - - - DNA SEQ - - DBS;ADCL - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs F - United States - >03y - - - 1 Johan den Dunnen
+/. 4 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.97397084C>T g.95637327C>T - - ALDH18A1_000003 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 - - De novo - - - - - DNA SEQ - - DBS;ADCL - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - United States - >03y - - - 1 Johan den Dunnen
+/. 4 c.413G>T r.(?) p.(Arg138Leu) Paternal (confirmed) - pathogenic g.97397084C>A g.95637327C>A - - ALDH18A1_000002 no paternal DNA PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 - - Unknown - - - - - DNA SEQ - - DBS;ADCL - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents F - United States - >06y - - - 1 Johan den Dunnen
+/. 4 c.413G>T r.(?) p.(Arg138Leu) Parent #1 - pathogenic g.97397084C>A g.95637327C>A - - ALDH18A1_000002 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 - - De novo - - - - - DNA SEQ - - DBS;ADCL - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Mexico - >04y - - - 1 Johan den Dunnen
?/. - c.475C>T r.(?) p.(Arg159*) Unknown - VUS g.97396933G>A - ALDH18A1(NM_002860.4):c.475C>T (p.(Arg159*)) - ALDH18A1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.492C>T r.(?) p.(Ala164=) Unknown - likely benign g.97396916G>A g.95637159G>A ALDH18A1(NM_001323413.1):c.492C>T (p.A164=) - ALDH18A1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.498G>C r.(?) p.(Gln166His) Unknown - VUS g.97396910C>G - ALDH18A1(NM_002860.4):c.498G>C (p.(Gln166His)) - ALDH18A1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.589G>C r.(?) p.(Glu197Gln) Unknown - VUS g.97393376C>G g.95633619C>G ALDH18A1(NM_001323413.1):c.589G>C (p.E197Q), ALDH18A1(NM_002860.4):c.589G>C (p.E197Q) - ALDH18A1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.589G>C r.(?) p.(Glu197Gln) Unknown - likely benign g.97393376C>G - ALDH18A1(NM_001323413.1):c.589G>C (p.E197Q), ALDH18A1(NM_002860.4):c.589G>C (p.E197Q) - ALDH18A1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.598C>T r.(?) p.(Arg200Cys) Unknown - VUS g.97393367G>A g.95633610G>A - - ALDH18A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.718-3T>C r.spl? p.? Unknown - likely benign g.97392809A>G g.95633052A>G ALDH18A1(NM_002860.4):c.718-3T>C - ALDH18A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.718-3T>C r.spl? p.? Unknown - likely benign g.97392809A>G g.95633052A>G ALDH18A1(NM_002860.4):c.718-3T>C - ALDH18A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.744C>A r.(?) p.(Ser248Arg) Unknown ACMG likely pathogenic (dominant) g.97392780G>T g.95633023G>T - - ALDH18A1_000048 ACMG PS2, PM2, PP2, PP3 PubMed: Marinakis 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 8005 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.754C>T r.(?) p.(Arg252Ter) Unknown - pathogenic g.97392770G>A g.95633013G>A ALDH18A1(NM_002860.4):c.754C>T (p.R252*) - ALDH18A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.755G>A r.(?) p.(Arg252Gln) Unknown - likely pathogenic g.97392769C>T g.95633012C>T - - ALDH18A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.760G>C r.(?) p.(Ala254Pro) Unknown - VUS g.97392764C>G - ALDH18A1(NM_002860.4):c.760G>C (p.A254P) - ALDH18A1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.809-1G>C r.spl? p.? Unknown - pathogenic g.97388250C>G g.95628493C>G ALDH18A1(NM_001323413.1):c.809-1G>C, ALDH18A1(NM_002860.4):c.809-1G>C - ALDH18A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.809-1G>C r.spl? p.? Unknown - pathogenic g.97388250C>G g.95628493C>G ALDH18A1(NM_001323413.1):c.809-1G>C, ALDH18A1(NM_002860.4):c.809-1G>C - ALDH18A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.809-1G>C r.spl? p.? Unknown - pathogenic g.97388250C>G - ALDH18A1(NM_001323413.1):c.809-1G>C, ALDH18A1(NM_002860.4):c.809-1G>C - ALDH18A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.896C>T r.(?) p.(Thr299Ile) Unknown - benign g.97388162G>A g.95628405G>A ALDH18A1(NM_002860.4):c.896C>T (p.T299I) - ALDH18A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.995A>G r.(?) p.(His332Arg) Unknown - likely benign g.97387282T>C - ALDH18A1(NM_001323413.1):c.995A>G (p.H332R) - ALDH18A1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1027A>G r.(?) p.(Ile343Val) Unknown - likely benign g.97387250T>C - ALDH18A1(NM_001323413.1):c.1027A>G (p.I343V) - ALDH18A1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1029T>C r.(?) p.(Ile343=) Unknown - benign g.97387248A>G g.95627491A>G ALDH18A1(NM_002860.4):c.1029T>C (p.I343=) - ALDH18A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1029T>C r.(=) p.(=) Parent #1 - likely benign g.97387248A>G g.95627491A>G - - ALDH18A1_000014 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41291566 Germline - 18/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 18 Mohammed Faruq
?/. - c.1037G>A r.(?) p.(Gly346Glu) Unknown - VUS g.97387240C>T - ALDH18A1(NM_002860.4):c.1037G>A (p.(Gly346Glu)) - ALDH18A1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1106T>C r.(?) p.(Met369Thr) Unknown - VUS g.97386506A>G - ALDH18A1(NM_002860.4):c.1106T>C (p.(Met369Thr)) - ALDH18A1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1115C>A r.(?) p.(Ser372Tyr) Unknown - likely benign g.97386497G>T g.95626740G>T ALDH18A1(NM_001017423.1):c.1109C>A (p.(Ser370Tyr)) - ALDH18A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1115C>A r.(?) p.(Ser372Tyr) Parent #1 - likely benign g.97386497G>T g.95626740G>T - - ALDH18A1_000007 79 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3765571 Germline - 79/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 79 Mohammed Faruq
-?/. - c.1115C>A r.(?) p.(Ser372Tyr) Both (homozygous) - likely benign g.97386497G>T g.95626740G>T - - ALDH18A1_000007 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3765571 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.1124G>T r.(?) p.(Arg375Met) Unknown - VUS g.97386488C>A g.95626731C>A - - ALDH18A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1264C>G r.(?) p.(Leu422Val) Unknown - VUS g.97380991G>C g.95621234G>C ALDH18A1(NM_001323413.1):c.1264C>G (p.L422V), ALDH18A1(NM_002860.4):c.1264C>G (p.L422V) - ALDH18A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1264C>G r.(?) p.(Leu422Val) Unknown - VUS g.97380991G>C - ALDH18A1(NM_001323413.1):c.1264C>G (p.L422V), ALDH18A1(NM_002860.4):c.1264C>G (p.L422V) - ALDH18A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1273C>T r.(?) p.(Arg425Cys) Parent #1 - pathogenic g.97380982G>A g.95621225G>A - - ALDH18A1_000039 - PubMed: Lefebvre 2021 - - Germline - - - - - DNA SEQ-NG - WES ? - PubMed: Lefebvre 2021 fetus M - France - - - - - 1 Johan den Dunnen
?/. - c.1273C>T r.(?) p.(Arg425Cys) Unknown ACMG VUS g.97380982G>A g.95621225G>A ALDH18A1 c.1273C>T p.(Arg425Cys) het - ALDH18A1_000039 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 144 genes panel tested retinal disease 17001521 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
-?/. - c.1308G>A r.(?) p.(Leu436=) Unknown - likely benign g.97380947C>T - ALDH18A1(NM_001323413.1):c.1308G>A (p.L436=) - ALDH18A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1314C>T r.(?) p.(Ile438=) Unknown - likely benign g.97380941G>A g.95621184G>A ALDH18A1(NM_001323413.1):c.1314C>T (p.I438=), ALDH18A1(NM_002860.4):c.1314C>T (p.I438=) - ALDH18A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1314C>T r.(?) p.(Ile438=) Unknown - likely benign g.97380941G>A - ALDH18A1(NM_001323413.1):c.1314C>T (p.I438=), ALDH18A1(NM_002860.4):c.1314C>T (p.I438=) - ALDH18A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1321C>T r.(?) p.(Arg441Ter) Unknown - pathogenic g.97380934G>A - ALDH18A1(NM_001323413.1):c.1321C>T (p.R441*) - ALDH18A1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1351G>A r.(?) p.(Val451Met) Unknown - VUS g.97380904C>T - ALDH18A1(NM_002860.4):c.1351G>A (p.(Val451Met)) - ALDH18A1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1370G>T r.(?) p.(Arg457Leu) Unknown - VUS g.97380885C>A g.95621128C>A ALDH18A1(NM_001323413.1):c.1370G>T (p.R457L) - ALDH18A1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1388A>T r.(?) p.(Asn463Ile) Unknown - VUS g.97380867T>A - ALDH18A1(NM_002860.4):c.1388A>T (p.(Asn463Ile), p.N463I) - ALDH18A1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1388A>T r.(?) p.(Asn463Ile) Unknown - VUS g.97380867T>A - ALDH18A1(NM_002860.4):c.1388A>T (p.(Asn463Ile), p.N463I) - ALDH18A1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1417A>G r.(?) p.(Ile473Val) Unknown - VUS g.97380838T>C - ALDH18A1(NM_002860.4):c.1417A>G (p.(Ile473Val)) - ALDH18A1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1502T>C r.(?) p.(Leu501Ser) Unknown - VUS g.97376337A>G - ALDH18A1(NM_001323413.1):c.1502T>C (p.L501S), ALDH18A1(NM_002860.3):c.1502T>C (p.(Leu501Ser)) - ALDH18A1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1502T>C r.(?) p.(Leu501Ser) Unknown - VUS g.97376337A>G - ALDH18A1(NM_001323413.1):c.1502T>C (p.L501S), ALDH18A1(NM_002860.3):c.1502T>C (p.(Leu501Ser)) - ALDH18A1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1596C>T r.(?) p.(Ala532=) Unknown - likely benign g.97376243G>A g.95616486G>A ALDH18A1(NM_001323413.1):c.1596C>T (p.A532=) - ALDH18A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1673G>T r.(?) p.(Arg558Leu) Unknown - VUS g.97373851C>A - ALDH18A1(NM_002860.3):c.1673G>T (p.(Arg558Leu)) - ALDH18A1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1864C>T r.1864c>u p.Arg622Trp|0.02 Paternal (confirmed) - likely pathogenic (recessive) g.97373558G>A g.95613801G>A - - ALDH18A1_000053 variant suspected to affect translation or protein stability. PubMed: Kremer 2017, PubMed: Yepez 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS ? Pat80256;R80184 PubMed: Kumar 2022, PubMed: Yepez 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany - 04y - - - 1 Johan den Dunnen
?/. - c.1864C>T r.(?) p.(Arg622Trp) Unknown - VUS g.97373558G>A - ALDH18A1(NM_002860.4):c.1864C>T (p.(Arg622Trp)) - ALDH18A1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1867G>A r.(?) p.(Asp623Asn) Unknown - VUS g.97373555C>T g.95613798C>T ALDH18A1(NM_001323413.1):c.1867G>A (p.D623N), ALDH18A1(NM_002860.4):c.1867G>A (p.(Asp623Asn)) - ALDH18A1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1867G>A r.(?) p.(Asp623Asn) Unknown - VUS g.97373555C>T - ALDH18A1(NM_001323413.1):c.1867G>A (p.D623N), ALDH18A1(NM_002860.4):c.1867G>A (p.(Asp623Asn)) - ALDH18A1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1946A>G r.(?) p.(Lys649Arg) Unknown - likely benign g.97371177T>C g.95611420T>C ALDH18A1(NM_001323413.1):c.1946A>G (p.K649R) - ALDH18A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1977C>T r.(?) p.(Ser659=) Unknown - benign g.97371146G>A g.95611389G>A ALDH18A1(NM_002860.4):c.1977C>T (p.S659=) - ALDH18A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977C>T r.(=) p.(=) Parent #1 - likely benign g.97371146G>A g.95611389G>A - - ALDH18A1_000005 90 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1804934 Germline - 90/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 90 Mohammed Faruq
+/. - c.1988C>A r.1988c>a p.Ser663* Maternal (confirmed) - pathogenic (recessive) g.97371135G>T g.95611378G>T - - ALDH18A1_000054 - PubMed: Kremer 2017, PubMed: Yepez 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS ? Pat80256;R80184 PubMed: Kumar 2022, PubMed: Yepez 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany - 04y - - - 1 Johan den Dunnen
+?/. - c.1994G>T r.(?) p.(Arg665Leu) Unknown - likely pathogenic g.97371129C>A - ALDH18A1(NM_002860.4):c.1994G>T (p.R665L) - ALDH18A1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2016A>T r.(?) p.(Glu672Asp) Unknown - likely benign g.97371107T>A - ALDH18A1(NM_002860.3):c.2016A>T (p.(Glu672Asp)) - ALDH18A1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2110+465G>A r.(=) p.(=) Unknown - VUS g.97370548C>T - ALDH18A1(NM_002860.4):c.2110+465G>A - ALDH18A1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2143G>C r.(?) p.(Asp715His) Unknown - likely pathogenic g.97370017C>G - ALDH18A1(NM_001323413.1):c.2143G>C (p.D715H), ALDH18A1(NM_002860.4):c.2143G>C (p.D715H) - ALDH18A1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2143G>C r.(?) p.(Asp715His) Unknown - likely pathogenic g.97370017C>G - ALDH18A1(NM_001323413.1):c.2143G>C (p.D715H), ALDH18A1(NM_002860.4):c.2143G>C (p.D715H) - ALDH18A1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2176C>T r.(?) p.(Arg726Cys) Unknown - likely pathogenic g.97369984G>A - ALDH18A1(NM_002860.3):c.2176C>T (p.(Arg726Cys)) - ALDH18A1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2194C>T r.(?) p.(Arg732Cys) Unknown - VUS g.97369966G>A - - - ALDH18A1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2206+15G>A r.(=) p.(=) Unknown - benign g.97369939C>T g.95610182C>T ALDH18A1(NM_002860.4):c.2206+15G>A - ALDH18A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2206+15G>A r.(=) p.(=) Unknown - benign g.97369939C>T g.95610182C>T ALDH18A1(NM_002860.4):c.2206+15G>A - ALDH18A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2207-3C>T r.spl? p.? Unknown - likely benign g.97366703G>A g.95606946G>A ALDH18A1(NM_002860.3):c.2207-3C>T, ALDH18A1(NM_002860.4):c.2207-3C>T - ALDH18A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2207-3C>T r.spl? p.? Unknown - likely benign g.97366703G>A g.95606946G>A ALDH18A1(NM_002860.3):c.2207-3C>T, ALDH18A1(NM_002860.4):c.2207-3C>T - ALDH18A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2207-3C>T r.spl? p.? Unknown - likely benign g.97366703G>A - ALDH18A1(NM_002860.3):c.2207-3C>T, ALDH18A1(NM_002860.4):c.2207-3C>T - ALDH18A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2232G>A r.(?) p.(Ser744=) Unknown - likely benign g.97366675C>T - ALDH18A1(NM_001323413.1):c.2232G>A (p.S744=), ALDH18A1(NM_002860.4):c.2232G>A (p.S744=) - ALDH18A1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2232G>A r.(?) p.(Ser744=) Unknown - likely benign g.97366675C>T - ALDH18A1(NM_001323413.1):c.2232G>A (p.S744=), ALDH18A1(NM_002860.4):c.2232G>A (p.S744=) - ALDH18A1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2245C>T r.(?) p.(Arg749Trp) Unknown - VUS g.97366662G>A g.95606905G>A ALDH18A1(NM_001323413.1):c.2245C>T (p.R749W) - ALDH18A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2264A>G r.(?) p.(Glu755Gly) Unknown - VUS g.97366643T>C - ALDH18A1(NM_001323413.1):c.2264A>G (p.E755G) - ALDH18A1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2276C>T r.(?) p.(Thr759Ile) Unknown - VUS g.97366631G>A - ALDH18A1(NM_002860.4):c.2276C>T (p.T759I) - ALDH18A1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2308G>A r.(?) p.(Val770Met) Unknown - VUS g.97366599C>T - ALDH18A1(NM_001323413.1):c.2308G>A (p.V770M) - ALDH18A1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.2351A>G r.(?) p.(His784Arg) Both (homozygous) - VUS g.97366556T>C g.95606799T>C - - ALDH18A1_000041 - PubMed: Ganapathy 2019 - rs765966176 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2634 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
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