Full data view for gene ALDOB

Information The variants shown are described using the NM_000035.3 transcript reference sequence.

304 entries on 4 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 - r.(=) p.(=) Parent #1 - likely pathogenic (recessive) g.104198184C>T g.101435902C>T g.-132G>A - ALDOB_000070 in vitro expression cloning decreased transcription using luciferase reporter plasmids PubMed: Coffee 2010 - - Germline - - - - - DNA SEQ - - HFI - PubMed: Coffee 2010 Pat50 - - United States white - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - likely pathogenic (recessive) g.104198184C>T g.101435902C>T g.-132G>A - ALDOB_000070 unknown variant 2nd chromosome; in vitro expression cloning decreased transcription using luciferase reporter plasmids PubMed: Coffee 2010 - - Germline - g.-132G>A - - - DNA ASO, SEQ - - HFI - PubMed: Coffee 2010 Pat34 - - Germany white - - - - 1 Johan den Dunnen
?/. - c.-214G>A r.(?) p.(=) Unknown - VUS g.104198194C>T - - - ALDOB_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-211T>A r.(?) p.(=) Unknown - benign g.104198191A>T - - - ALDOB_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_6i c.-10-2043_624+63del r.? p.0? Parent #2 - pathogenic (recessive) g.104188775_104195223del g.101426493_101432941del g.2840_9288del - ALDOB_000036 unknown variant 2nd chromosome PubMed: Esposito 2010 - - Germline - 6/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2010 - - - Italy - - - - - 2 Johan den Dunnen
+/. 1i_6i c.-10-2043_624+63del r.? p.0? Paternal (confirmed) - pathogenic (recessive) g.104188775_104195223del g.101426493_101432941del g.2840_9288del - ALDOB_000036 6,548 bp deletion PubMed: Esposito 2010 - - Germline - 6/244 chromosomes (cases) - - - DNA SEQ - - HFI FamPatSR PubMed: Esposito 2010 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F - Italy - - - - - 2 Johan den Dunnen
+/. 1i_6i c.-10-2043_624+63del r.? p.0? Maternal (inferred) - pathogenic (recessive) g.104188775_104195223del g.101426493_101432941del g.2840_9288del - ALDOB_000036 - PubMed: Esposito 2010 - - Germline - 6/244 chromosomes (cases) - - - DNA SEQ - - HFI FamPat PubMed: Esposito 2010 2-generation family, affected parent F - Italy - - - - - 1 Johan den Dunnen
+/. 1i_6i c.-10-2043_624+63del r.? p.0? Parent #2 - pathogenic (recessive) g.104188775_104195223del g.101426493_101432941del g.2840_9288del - ALDOB_000036 - PubMed: Esposito 2010 - - Germline - 6/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2010 - - - Italy - - - - - 1 Johan den Dunnen
+/. 1i_6i c.-10-2043_624+63del r.? p.0? Parent #2 - pathogenic (recessive) g.104188775_104195223del g.101426493_101432941del g.2840_9288del - ALDOB_000036 - PubMed: Esposito 2010 - - Germline - 6/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2010 - - - Italy - - - - - 1 Johan den Dunnen
-?/. - c.-10-17C>T r.(=) p.(=) Unknown - likely benign g.104193196G>A - ALDOB(NM_000035.4):c.-10-17C>T - ALDOB_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.-10-1G>C r.? p.? Parent #1 - pathogenic (recessive) g.104193180C>G g.101430898C>G - - ALDOB_000069 - PubMed: Coffee 2010 - - Germline - - - - - DNA SEQ - - HFI - PubMed: Coffee 2010 Pat278 - - United States white, Hispanic - - - - 1 Johan den Dunnen
+/. 1i c.-10-1G>C r.? p.? Parent #1 - pathogenic (recessive) g.104193180C>G g.101430898C>G - - ALDOB_000069 unknown variant 2nd chromosome PubMed: Coffee 2010 - - Germline - - - - - DNA ASO, SEQ - - HFI - PubMed: Coffee 2010 Pat249 - - United States white, Hispanic - - - - 1 Johan den Dunnen
+/. 1i c.-10-1G>C r.? p.? Parent #1 - pathogenic (recessive) g.104193180C>G g.101430898C>G - - ALDOB_000069 - PubMed: Coffee 2010 - - Germline - - - - - DNA SEQ - - HFI - PubMed: Coffee 2010 Pat295 - - United States Hispanic, African American - - - - 1 Johan den Dunnen
+/. 1i c.-10-1G>C r.? p.? Parent #1 - pathogenic (recessive) g.104193180C>G g.101430898C>G - - ALDOB_000069 - PubMed: Coffee 2010 - - Germline - - - - - DNA SEQ - - HFI - PubMed: Coffee 2010 Pat284 - - United States African American - - - - 1 Johan den Dunnen
+/. 2 c.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic (recessive) g.104193168A>G g.101430886A>G M1T - ALDOB_000068 - PubMed: Ali 1993 - - Germline - - - - - DNA SEQ - - HFI patient PubMed: Ali 1993 - F - Germany Italy - - - - 1 Johan den Dunnen
+?/. - c.10C>T r.(?) p.(Arg4*) Parent #1 - likely pathogenic g.104193160G>A g.101430878G>A - - ALDOB_000014 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118204428 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
+/. 2 c.10C>T r.(?) p.(Arg4*) Both (homozygous) - pathogenic (recessive) g.104193160G>A g.101430878G>A - - ALDOB_000014 - PubMed: Ali 1994 - - Germline - - - - - DNA SEQ - - HFI family PubMed: Ali 1994 large consanguineous family, 10 affected (5F, 5M) F;M - Turkey - - - - - 10 Johan den Dunnen
+/. 2 c.62del r.(?) p.(Gln21Argfs*17) Paternal (confirmed) - pathogenic (recessive) g.104193108del g.101430826del AA20delA - ALDOB_000067 - PubMed: Santamaria 1996 - - Germline - - - - - DNA SEQ - - HFI patient PubMed: Santamaria 1996 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - 1 Johan den Dunnen
+/. 2 c.62del r.(?) p.(Gln21Argfs*17) Parent #1 - pathogenic (recessive) g.104193108del g.101430826del - - ALDOB_000067 unknown variant 2nd chromosome PubMed: Esposito 2010 - - Germline - 1/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2010 analysis 122 patients - - Italy - - - - - 1 Johan den Dunnen
+/. 2 c.62del r.(?) p.(Gln21Argfs*17) Maternal (confirmed) - pathogenic (recessive) g.104193108del g.101430826del AA20delA - ALDOB_000067 - PubMed: Santamaria 1996 - - Germline - - - - - DNA SEQ - - HFI Pat3 PubMed: Santamaria 1996 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - 1 Johan den Dunnen
+/. 2i c.112+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.104193057C>T g.101430775C>T - - ALDOB_000066 - PubMed: Davit-Spraul 2008 - - Germline - 1/92 cases - - - DNA SEQ - - HFI Fam6 PubMed: Davit-Spraul 2008 - - - France - - - - - 1 Johan den Dunnen
+/. 2i c.113-1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.104192249C>T g.101429967C>T IVS2-1G>A - ALDOB_000065 unknown variant 2nd chromosome PubMed: Santer 2005 - - Germline - 1/144 chromosomes cases - - - DNA SSCA, SEQ - - HFI - PubMed: Santer 2005 family F - Germany Europe Central - - - - 1 Johan den Dunnen
+/. 2i c.113-1_115del r.spl p.? Paternal (inferred) - pathogenic (recessive) g.104192248_104192251del g.101429966_101429969del del4 - ALDOB_000064 - PubMed: Ali 1995 - - Germline - - - - - DNA SEQ - - HFI FamPatIV1 PubMed: Ali 1995 5-generation family, 10 affected (5F, 5M) F;M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i c.113-1_115del r.spl p.? Parent #1 - pathogenic (recessive) g.104192248_104192251del g.101429966_101429969del g922_925delgGTA - ALDOB_000064 - PubMed: Gruchota 2006 - - Germline - 1/52 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Gruchota 2006 family - - Poland - - - - - 1 Johan den Dunnen
+/. 2i c.113-1_115del r.spl p.? Both (homozygous) - pathogenic (recessive) g.104192248_104192251del g.101429966_101429969del 113-1_115delGGTA - ALDOB_000064 - PubMed: Cross 1990 - - Germline - - - - - DNA SEQ - - HFI PatG12 PubMed: Cross 1990 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i c.113-1_115del r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.104192248_104192251del g.101429966_101429969del del4 - ALDOB_000064 - PubMed: Ali 1995 - - Germline - - - - - DNA SEQ - - HFI Fam1PatIII20/21/22/23 PubMed: Ali 1995 5-generation family, 10 affected (5F, 5M) F;M - United Kingdom (Great Britain) - - - - - 10 Johan den Dunnen
+/. 2i c.113-1_115del r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.104192248_104192251del g.101429966_101429969del del4 - ALDOB_000064 - PubMed: Ali 1995 - - Germline - - - - - DNA SEQ - - HFI Fam1PatIII33/34/35/36/IV16 PubMed: Ali 1995 5-generation family, 10 affected (5F, 5M) F;M - United Kingdom (Great Britain) - - - - - 5 Johan den Dunnen
+/. 3 c.136A>T r.(?) p.(Arg46Trp) Parent #1 - pathogenic (recessive) g.104192225T>A g.101429943T>A - - ALDOB_000063 unknown variant 2nd chromosome PubMed: Esposito 2010 - - Germline - 1/244 chromosomes (cases) - - - DNA SEQ - - HFI PatCL PubMed: Esposito 2010 - - - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.146del r.(?) p.(Val49Glyfs*29) Parent #1 - pathogenic (recessive) g.104192215del g.101429933del 146delT - ALDOB_000062 - PubMed: Davit-Spraul 2008 - - Germline - 1/92 cases - - - DNA SEQ - - HFI Fam5 PubMed: Davit-Spraul 2008 - - - France - - - - - 1 Johan den Dunnen
-/. - c.156T>G r.(?) p.(Thr52=) Unknown - benign g.104192205A>C g.101429923A>C ALDOB(NM_000035.4):c.156T>G (p.T52=) - ALDOB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.170G>C r.(?) p.(Arg57Pro) Both (homozygous) - pathogenic (recessive) g.104192191C>G g.101429909C>G - - ALDOB_000061 - PubMed: Davit-Spraul 2008 - - Germline - 1/92 cases - - - DNA SEQ - - HFI Fam1 PubMed: Davit-Spraul 2008 - - - France - - - - - 1 Johan den Dunnen
+/. 3 c.178C>T r.(?) p.(Arg60*) Paternal (confirmed) - pathogenic (recessive) g.104192183G>A g.101429901G>A R59X - ALDOB_000060 - PubMed: Ali 1994 - - Germline - - - - - DNA SEQ - - HFI patient PubMed: Ali 1994 2-generation family, 2 affected, unaffected heterozygous carrier parents - - Austria - - - - - 2 Johan den Dunnen
+/. 3 c.178C>T r.(?) p.(Arg60*) Parent #1 - pathogenic (recessive) g.104192183G>A g.101429901G>A R59X - ALDOB_000060 - PubMed: Brooks 1994 - - Germline - - - - - DNA SEQ - - HFI patient PubMed: Brooks 1994 - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.178C>T r.(?) p.(Arg60*) Parent #1 - pathogenic (recessive) g.104192183G>A g.101429901G>A - - ALDOB_000060 unknown variant 2nd chromosome PubMed: Santer 2005 - - Germline - 2/144 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Santer 2005 - - - - Europe Central - - - - 2 Johan den Dunnen
+/. 3 c.178C>T r.(?) p.(Arg60*) Both (homozygous) - pathogenic (recessive) g.104192183G>A g.101429901G>A - - ALDOB_000060 - PubMed: Davit-Spraul 2008 - - Germline - 2/92 cases - - - DNA SEQ - - HFI patient PubMed: Davit-Spraul 2008 - - - France - - - - - 1 Johan den Dunnen
+/. 3 c.178C>T r.(?) p.(Arg60*) Both (homozygous) - pathogenic (recessive) g.104192183G>A g.101429901G>A - - ALDOB_000060 - PubMed: Davit-Spraul 2008 - - Germline - 2/92 cases - - - DNA SEQ - - HFI patient PubMed: Davit-Spraul 2008 - - - France - - - - - 1 Johan den Dunnen
+/. 3 c.178C>T r.(?) p.(Arg60*) Parent #2 - pathogenic (recessive) g.104192183G>A g.101429901G>A R59X - ALDOB_000060 - PubMed: Coffee 2010 - - Germline - - - - - DNA SEQ - - HFI - PubMed: Coffee 2010 Pat278 - - United States white, Hispanic - - - - 1 Johan den Dunnen
+/. - c.178C>T r.(?) p.(Arg60*) Unknown - pathogenic g.104192183G>A - - - ALDOB_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.221T>C r.(?) p.(Ile74Thr) Both (homozygous) - pathogenic (recessive) g.104192140A>G g.101429858A>G g.6846T>C - ALDOB_000059 - PubMed: Esposito 2004, PubMed: Esposito 2010 - - Germline - 1/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2004, PubMed: Esposito 2010 - - - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.250del r.(?) p.(Leu84Serfs*26) Parent #1 - pathogenic (recessive) g.104192113del g.101429831del 250delC - ALDOB_000058 - PubMed: Gruchota 2006 - - Germline - 2/52 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Gruchota 2006 family - - Poland - - - - - 1 Johan den Dunnen
+/. 3 c.250del r.(?) p.(Leu84Serfs*26) Parent #1 - pathogenic (recessive) g.104192113del g.101429831del 250delC - ALDOB_000058 - PubMed: Gruchota 2006 - - Germline - 2/52 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Gruchota 2006 family - - Poland - - - - - 1 Johan den Dunnen
+/. - c.264C>A r.(?) p.(Asp88Glu) Unknown - pathogenic g.104192097G>T g.101429815G>T - - ALDOB_000077 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.306_317dup r.(?) p.(Val104_Ile107dup) Parent #1 - pathogenic (recessive) g.104192047_104192058dup g.101429765_101429776dup 314-315ins12 - ALDOB_000057 - PubMed: Gruchota 2006 - - Germline - 1/52 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Gruchota 2006 family - - Poland - - - - - 1 Johan den Dunnen
+/. 3 c.306_317dup r.(?) p.(Val104_Ile107dup) Parent #1 - pathogenic (recessive) g.104192047_104192058dup g.101429765_101429776dup 314_315insGGGGATCGTGGT - ALDOB_000057 unknown variant 2nd chromosome PubMed: Esposito 2010 - - Germline - 1/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2010 analysis 122 patients - - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.324G>A r.313_324del p.Val105_Lys108del Parent #1 - pathogenic (recessive) g.104192037C>T g.101429755C>T g.1133G>A - ALDOB_000056 - PubMed: Sanchez-Gutierrez 2002 - - Germline - 1/42 chromosomes cases - - - DNA, RNA RT-PCR, SEQ - - HFI Fam529F PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 3 c.324G>A r.spl p.(Val105_Lys108del) Parent #1 - pathogenic (recessive) g.104192037C>T g.101429755C>T - - ALDOB_000056 unknown variant 2nd chromosome PubMed: Davit-Spraul 2008 - - Germline - 1/92 cases - - - DNA SEQ - - HFI patient PubMed: Davit-Spraul 2008 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.324+568_480del r.(?) p.? Parent #1 - pathogenic (recessive) g.104189826_104191471del g.101427544_101429189del g.6594-8239del - ALDOB_000048 1646 bp deletion from IVS3 to part of E5 PubMed: Cross 1990 - - Germline - - - - - DNA SEQ - - HFI PatF13 PubMed: Cross 1990 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.325-19T>G r.(=) p.(=) Unknown - likely benign g.104190824A>C - ALDOB(NM_000035.4):c.325-19T>G - ALDOB_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.325-1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.104190806C>G g.101428524C>G g.8180G>C - ALDOB_000055 - PubMed: Esposito 2004, PubMed: Esposito 2010 - - Germline - 1/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2004, PubMed: Esposito 2010 analysis 122 patients - - Italy - - - - - 1 Johan den Dunnen
+/. 4 c.331C>T r.(?) p.(Gln111*) Parent #1 - pathogenic (recessive) g.104190799G>A g.101428517G>A - - ALDOB_000054 - PubMed: Esposito 2004, PubMed: Esposito 2010 - - Germline - 1/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2004, PubMed: Esposito 2010 - F - Italy - - - - - 1 Johan den Dunnen
+/. 4 c.345_372del r.(?) p.(Leu116Phefs*28) Parent #1 - pathogenic (recessive) g.104190760_104190787del g.101428478_101428505del - - ALDOB_000053 unknown variant 2nd chromosome PubMed: Esposito 2010 - - Germline - 1/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2010 analysis 122 patients - - Italy - - - - - 1 Johan den Dunnen
+/. 4 c.345_372del r.(?) p.(Leu116Phefs*28) Maternal (inferred) - pathogenic (recessive) g.104190760_104190787del g.101428478_101428505del 345-72del28 - ALDOB_000053 unknown variant 2nd chromosome PubMed: Santer 2005 - - Germline - 1/144 chromosomes cases - - - DNA HD, SEQ - - HFI - PubMed: Santer 2005 2-generation family, father A150P homozygot - - Germany Europe Central - - - - 1 Johan den Dunnen
?/. - c.352G>A r.(?) p.(Gly118Arg) Unknown - VUS g.104190778C>T - ALDOB(NM_000035.4):c.352G>A (p.G118R) - ALDOB_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.360_363del r.(?) p.(Asn120Lysfs*32) Both (homozygous) ACMG pathogenic g.104190773_104190776del g.101428491_101428494del - - ALDOB_000002 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - HFI - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Parent #1 - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del - - ALDOB_000002 - PubMed: Dazzo 1990 - - Germline - - - - - DNA SEQ - - HFI FamPatII1 PubMed: Dazzo 1990 2-generation family, 1 affected, unaffected parents F - United States - - - - - 1 Johan den Dunnen
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Parent #1 - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del MD4 - ALDOB_000002 - PubMed: Santamaria 1996 - rs1800546 Germline - - - - - DNA SEQ - - HFI Pat8 PubMed: Santamaria 1996 - - - Italy - - - - - 1 Johan den Dunnen
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Parent #1 - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del MD4 - ALDOB_000002 - PubMed: Santamaria 1996 - - Germline - - - - - DNA SEQ - - HFI Pat5 PubMed: Santamaria 1996 - - - Italy - - - - - 1 Johan den Dunnen
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Parent #2 - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del del4E4 - ALDOB_000002 - PubMed: Coffee 2010 - - Germline - - - - - DNA SEQ - - HFI - PubMed: Coffee 2010 Pat295 - - United States Hispanic, African American - - - - 1 Johan den Dunnen
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Both (homozygous) - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del del4E4 - ALDOB_000002 - PubMed: Sanchez-Gutierrez 2002 - - Germline - 7/42 chromosomes cases - - - DNA SEQ - - HFI Fam5 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Parent #1 - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del 357delAAAC - ALDOB_000002 unknown variant 2nd chromosome PubMed: Davit-Spraul 2008 - - Germline - 1/92 cases - - - DNA SEQ - - HFI patient PubMed: Davit-Spraul 2008 - - - France - - - - - 1 Johan den Dunnen
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Parent #1 - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del - - ALDOB_000002 unknown variant 2nd chromosome PubMed: Esposito 2010 - - Germline - 11/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2010 analysis 122 patients - - Italy - - - - - 1 Johan den Dunnen
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Parent #1 - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del 360-3delCAAA - ALDOB_000002 unknown variant 2nd chromosome PubMed: Santer 2005 - - Germline - 4/144 chromosomes cases - - - DNA HD, SEQ - - HFI - PubMed: Santer 2005 - - - - Europe Central - - - - 4 Johan den Dunnen
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Both (homozygous) - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del MD4 - ALDOB_000002 - PubMed: Santamaria 1996 - - Germline - - - - - DNA SEQ - - HFI Pat7 PubMed: Santamaria 1996 - - - Italy - - - - - 1 Johan den Dunnen
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Parent #2 - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del - - ALDOB_000002 - PubMed: Esposito 2004, PubMed: Esposito 2010 - - Germline - 11/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2004, PubMed: Esposito 2010 - - - Italy - - - - - 1 Johan den Dunnen
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Maternal (confirmed) - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del del4E4 - ALDOB_000002 - PubMed: Sanchez-Gutierrez 2002 - - Germline - 7/42 chromosomes cases - - - DNA SEQ - - HFI Fam1 PubMed: Sanchez-Gutierrez 2002 2-generation family, 2 affected - - Spain - - - - - 2 Johan den Dunnen
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Parent #2 - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del del4E4 - ALDOB_000002 - PubMed: Sanchez-Gutierrez 2002 - - Germline - 7/42 chromosomes cases - - - DNA SEQ - - HFI Fam8 PubMed: Sanchez-Gutierrez 2002 2-generation family, 2 affected - - Spain - - - - - 2 Johan den Dunnen
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Parent #2 - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del del4E4 - ALDOB_000002 - PubMed: Sanchez-Gutierrez 2002 - - Germline - 7/42 chromosomes cases - - - DNA SEQ - - HFI Fam16 PubMed: Sanchez-Gutierrez 2002 2-generation family, 2 affected - - Spain - - - - - 2 Johan den Dunnen
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Parent #2 - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del del4E4 - ALDOB_000002 - PubMed: Sanchez-Gutierrez 2002 - - Germline - 7/42 chromosomes cases - - - DNA SEQ - - HFI Fam18 PubMed: Sanchez-Gutierrez 2002 2-generation family, 3 affected - - Spain - - - - - 3 Johan den Dunnen
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Parent #2 - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del del4E4 - ALDOB_000002 - PubMed: Sanchez-Gutierrez 2002 - - Germline - 7/42 chromosomes cases - - - DNA SEQ - - HFI Fam71F PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 4 c.360_363del r.(?) p.(Asn120Lysfs*32) Parent #2 - pathogenic (recessive) g.104190773_104190776del g.101428491_101428494del 360-363delCAAA - ALDOB_000002 - PubMed: Gruchota 2006 - - Germline - 1/52 chromosomes cases - - - DNA SEQ - - HFI - PubMed: Gruchota 2006 family - - Poland - - - - - 1 Johan den Dunnen
+?/. - c.360_363del r.(?) p.(Asn120Lysfs*32) Both (homozygous) ACMG likely pathogenic g.104190773_104190776del g.101428491_101428494del ALDOB, NM_000035.3, c.360_363del, p.Asn120Lysfs*32 - ALDOB_000002 homozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 12 PubMed: Alfares 2018 - M - - - - - - - 1 LOVD
+?/. - c.379+1G>T r.spl? p.? Parent #1 - likely pathogenic g.104190750C>A g.101428468C>A - - ALDOB_000013 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138121153 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
?/. 5 c.400C>A r.(?) p.(Arg134Ser) Parent #1 - VUS g.104189904G>T g.101427622G>T - - ALDOB_000052 no variant 2nd chromosome PubMed: Santer 2005 - - Germline - - - - - DNA DHPLC, SEQ - - HFI - PubMed: Santer 2005 analysis 2000 healthy newborns - - - Europe Central - - - - 1 Johan den Dunnen
+/. 5 c.403T>C r.(?) p.(Cys135Arg) Parent #2 - pathogenic (recessive) g.104189901A>G g.101427619A>G C134R - ALDOB_000051 - PubMed: Brooks 1994 - - Germline - - - - - DNA SEQ - - HFI patient PubMed: Brooks 1994 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.422A>T r.(?) p.(Asp141Val) Unknown - VUS g.104189882T>A g.101427600T>A ALDOB(NM_000035.4):c.422A>T (p.D141V) - ALDOB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.442T>C r.(?) p.(Trp148Arg) Maternal (confirmed) - pathogenic (recessive) g.104189862A>G g.101427580A>G W147R - ALDOB_000050 - PubMed: Ali 1995 - - Germline - - - - - DNA SEQ - - HFI FamPatIV1 PubMed: Ali 1995 5-generation family, 10 affected (5F, 5M) F;M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 5 c.444G>A r.(?) p.(Trp148*) Parent #1 - pathogenic (recessive) g.104189860C>T g.101427578C>T - - ALDOB_000049 - PubMed: Davit-Spraul 2008 - - Germline - 1/92 cases - - - DNA SEQ - - HFI Fam4 PubMed: Davit-Spraul 2008 - - - France - - - - - 1 Johan den Dunnen
+/. - c.448G>C r.(?) p.(Ala150Pro) Unknown - pathogenic g.104189856C>G g.101427574C>G ALDOB(NM_000035.4):c.448G>C (p.A150P) - ALDOB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic g.104189856C>G g.101427574C>G - - ALDOB_000006 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1800546 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sebastio 1991 - - Germline - - - - - DNA ASO - - HFI Pat5 PubMed: Sebastio 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Paternal (confirmed) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Ali 1995 - rs1800546 Germline - - - - - DNA SEQ - - HFI Fam1PatIII20/21/22/23 PubMed: Ali 1995 5-generation family, 10 affected (5F, 5M) F;M - United Kingdom (Great Britain) - - - - - 10 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Maternal (confirmed) - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Esposito 2010 - rs1800546 Germline - 91/244 chromosomes (cases) - - - DNA SEQ - - HFI FamPatSR PubMed: Esposito 2010 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F - Italy - - - - - 2 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Esposito 2010 - rs1800546 Germline - 91/244 chromosomes (cases) - - - DNA SEQ - - HFI patient PubMed: Esposito 2010 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Esposito 2004, PubMed: Esposito 2010 - rs1800546 Germline - - - - - DNA SEQ - - HFI patient PubMed: Esposito 2004, PubMed: Esposito 2010 analysis 122 patients - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Santamaria 1996 - rs1800546 Germline - - - - - DNA SEQ - - HFI Pat12 PubMed: Santamaria 1996 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #2 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Ali 1998 - rs1800546 Germline - - - - - DNA SEQ - - HFI patient PubMed: Ali 1998 - - - Finland - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Paternal (confirmed) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam1 PubMed: Sanchez-Gutierrez 2002 2-generation family, 2 affected - - Spain - - - - - 2 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Paternal (confirmed) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam3 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam8 PubMed: Sanchez-Gutierrez 2002 2-generation family, 2 affected - - Spain - - - - - 2 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam16 PubMed: Sanchez-Gutierrez 2002 2-generation family, 2 affected - - Spain - - - - - 2 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Paternal (confirmed) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam17 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam18 PubMed: Sanchez-Gutierrez 2002 2-generation family, 3 affected - - Spain - - - - - 3 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam71F PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Parent #1 - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam468F PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Paternal (confirmed) - pathogenic (recessive) g.104189856C>G g.101427574C>G A150P - ALDOB_000006 - PubMed: Santer 2005 - rs1800546 Germline - 93/144 chromosomes cases - - - DNA HD, SEQ - - HFI - PubMed: Santer 2005 2-generation family, father A150P homozygot - - Germany Europe Central - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam2 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam6 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam7 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam12 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.448G>C r.(?) p.(Ala150Pro) Both (homozygous) - pathogenic (recessive) g.104189856C>G g.101427574C>G A149P - ALDOB_000006 - PubMed: Sanchez-Gutierrez 2002 - rs1800546 Germline - 29/42 chromosomes cases - - - DNA SEQ - - HFI Fam13 PubMed: Sanchez-Gutierrez 2002 - - - Spain - - - - - 1 Johan den Dunnen
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