Full data view for gene ALDH3A2

Information The variants shown are described using the NM_000382.2 transcript reference sequence.

293 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/+ - c.-835830_*581312del r.0? p.0? Paternal (confirmed) - likely pathogenic g.18716455_20160197del g.18813142_20256884del deletion of 17p11.2 [chr17:18716455-20160197] in NCBI36/hg18 - ALDH3A2_000025 1,44 Mb interstitial deletion that spans 15 genes PubMed: Engelstad 2011, Journal: Engelstad 2011 - - Germline - - - - - DNA FISH, PCRdig, PCRlr cultured fibroblasts and blood - SLS - PubMed: Engelstad 2011, Journal: Engelstad 2011 Mother: Irish and Cherokee Indian descent Father: English and American Indian descent F no United States - - - - - 1 Maximilian Weustenfeld
+/+ - c.-106175_*219565del r.0? p.0? Both (homozygous) - pathogenic g.19446121_19798461del g.19542808_19895148del "deletion breakpoints at nucleotide 19446110 and 19798450" - ALDH3A2_000024 large deletion (352 kb) including complete ALDH3A2-gene and ALDH3A1, ULK2, SLC47A1, SLC47A2 PubMed: Engelstad 2011, Journal: Engelstad 2011 - - Germline - - - - - DNA PCR, PCRlr, PCRm cultured fibroblasts and blood - SLS - PubMed: Engelstad 2011, Journal: Engelstad 2011 - F yes United States - - - - therapy with etretinate, then isotretinoin (discontinued) 1 Maximilian Weustenfeld
+?/+ - c.-58107_472-584del r.(=) p.(=) Both (homozygous) - likely pathogenic g.19494178_19559095del g.19590865_19655782del - - ALDH3A2_000081 large deletion (67kb) includes exons 1-5 of ALDH3A2 PubMed: Gaboon 2015 - - Germline - - - - - DNA arraySNP - - SLS - PubMed: Gaboon 2015 - F yes Saudi Arabia - - - - - 1 Maximilian Weustenfeld
+/+? - c.10G>T r.(?) p.(Glu4*) Both (homozygous) - pathogenic g.19552294G>T g.19648981G>T - - ALDH3A2_000107 - PubMed: Shah 2017 - - Germline yes - - - - DNA PCR blood - SLS - PubMed: Shah 2017 all three patients of this paper are brothers M yes Pakistan - ? - - - 1 Maximilian Weustenfeld
+/+? - c.10G>T r.(?) p.(Glu4*) Both (homozygous) - pathogenic g.19552294G>T g.19648981G>T - - ALDH3A2_000107 - PubMed: Shah 2017 - - Germline yes - - - - DNA PCR blood - SLS - PubMed: Shah 2017 all three patients of this paper are brothers M yes Pakistan - ? - - - 1 Maximilian Weustenfeld
+/+? - c.10G>T r.(?) p.(Glu4*) Both (homozygous) - pathogenic g.19552294G>T g.19648981G>T - - ALDH3A2_000107 - PubMed: Shah 2017 - - Germline yes - - - - DNA PCR blood - SLS - PubMed: Shah 2017 all three patients of this paper are brothers M yes Pakistan - - - - - 1 Maximilian Weustenfeld
?/. - c.14T>C r.(?) p.(Val5Ala) Unknown - VUS g.19552298T>C g.19648985T>C ALDH3A2(NM_000382.2):c.14T>C (p.(Val5Ala)) - ALDH3A2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? - c.24_25delinsTT r.(?) p.(Arg9*) Both (homozygous) - pathogenic g.19552308_19552309delinsTT g.19648995_19648996delinsTT c.24-25CC>TT - ALDH3A2_000110 homozygous state inferred by submitter PubMed: Incecik 2018 - - Germline - - - - - DNA PCR - - SLS - PubMed: Incecik 2018 patients 5 and 6 are siblings M yes Turkey - - - - - 1 Maximilian Weustenfeld
+/+? - c.24_25delinsTT r.(?) p.(Arg9*) Both (homozygous) - pathogenic g.19552308_19552309delinsTT g.19648995_19648996delinsTT c.24-25CC>TT - ALDH3A2_000110 homozygous state inferred by submitter PubMed: Incecik 2018 - - Germline - - - - - DNA PCR - - SLS - PubMed: Incecik 2018 patients 5 and 6 are siblings F yes Turkey - - - - - 1 Maximilian Weustenfeld
./. - c.25_50del r.(?) p.(Arg9Alafs*36) Unknown - pathogenic g.19552309_19552334del g.19648996_19649021del c.21_46del - ALDH3A2_000013 - PubMed: Willemsen 2001 - - Germline - - - - - DNA PCRdig blood - SLS - PubMed: Willemsen 2001 - M no Netherlands - - - - - 1 Maximilian Weustenfeld
+?/+ - c.25_50del r.(?) p.(Arg9Alafs*36) Both (homozygous) - likely pathogenic g.19552309_19552334del g.19648996_19649021del - - ALDH3A2_000085 - PubMed: Kariminejad 2017 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Kariminejad 2017 - M yes Iran - - - - - 1 Maximilian Weustenfeld
+?/+ - c.25_50del r.(?) p.(Arg9Alafs*36) Both (homozygous) - likely pathogenic g.19552309_19552334del g.19648996_19649021del - - ALDH3A2_000085 - PubMed: Kariminejad 2017 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Kariminejad 2017 - F yes Iran - - - - - 1 Maximilian Weustenfeld
-?/. - c.28C>G r.(?) p.(Gln10Glu) Unknown - likely benign g.19552312C>G g.19648999C>G ALDH3A2(NM_000382.2):c.28C>G (p.(Gln10Glu)), ALDH3A2(NM_000382.3):c.28C>G (p.Q10E), ALDH3A2(NM_001031806.2):c.28C>G (p.Q10E) - ALDH3A2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.28C>G r.(?) p.(Gln10Glu) Unknown - likely benign g.19552312C>G g.19648999C>G ALDH3A2(NM_000382.2):c.28C>G (p.(Gln10Glu)), ALDH3A2(NM_000382.3):c.28C>G (p.Q10E), ALDH3A2(NM_001031806.2):c.28C>G (p.Q10E) - ALDH3A2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.28C>G r.(?) p.(Gln10Glu) Unknown - likely benign g.19552312C>G - ALDH3A2(NM_000382.2):c.28C>G (p.(Gln10Glu)), ALDH3A2(NM_000382.3):c.28C>G (p.Q10E), ALDH3A2(NM_001031806.2):c.28C>G (p.Q10E) - ALDH3A2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ 1 c.28C>T r.(?) p.(Gln10*) Parent #1 - likely pathogenic g.19552312C>T g.19648999C>T p.Q10X - ALDH3A2_000063 - PubMed: Sanabria 2011 - - Germline - - - - - DNA PCR - - SLS - PubMed: Sanabria 2011 - M no (Spain) - - - - - 1 Maximilian Weustenfeld
+?/+ 1 c.28C>T r.(?) p.(Gln10*) Parent #1 - likely pathogenic g.19552312C>T g.19648999C>T p.Q10X - ALDH3A2_000063 - PubMed: Sanabria 2011 - - Germline - - - - - DNA PCR - - SLS - PubMed: Sanabria 2011 - F no (Spain) - - - - - 1 Maximilian Weustenfeld
+?/+ - c.73C>T r.(?) p.(Gln25*) Parent #1 - likely pathogenic g.19552357C>T g.19649044C>T Gln25Stop - ALDH3A2_000065 - PubMed: Jean-François 2007 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Jean-François 2007 - M ? (United States) African American - - - - 1 Maximilian Weustenfeld
+/+ - c.80T>C r.(?) p.(Leu27Pro) Both (homozygous) - pathogenic g.19552364T>C g.19649051T>C c.80C>T (???) - ALDH3A2_000014 - PubMed: Willemsen 2001 - - Germline - - - - - DNA PCRdig blood - SLS - PubMed: Willemsen 2001 - F yes Netherlands - - - - - 1 Maximilian Weustenfeld
+/+ - c.80T>C r.(?) p.(Leu27Pro) Unknown - pathogenic g.19552364T>C g.19649051T>C c.80C>T (???) - ALDH3A2_000014 - PubMed: Willemsen 2001 - - Germline - - - - - DNA PCRdig blood - SLS - PubMed: Willemsen 2001 - F no Netherlands - - - - - 1 Maximilian Weustenfeld
+?/+ - c.103C>T r.(?) p.(Gln35*) Both (homozygous) - likely pathogenic g.19552387C>T g.19649074C>T - - ALDH3A2_000086 - PubMed: Kariminejad 2017 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Kariminejad 2017 - M yes Iran - - - - intensive physiotherapy; surgery for tendon release (at 5 years of age); surgery for hip dislocation (at 6 years of age) 1 Maximilian Weustenfeld
+?/+ - c.103del r.(?) p.(Gln35Argfs*8) Parent #2 - likely pathogenic g.19552387del g.19649074del nt103delC - ALDH3A2_000066 - PubMed: Sillen 1989 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Sillen 1998 - ? no Sweden - - - - - 1 Maximilian Weustenfeld
+?/+ - c.103del r.(?) p.(Gln35Argfs*8) Parent #2 - likely pathogenic g.19552387del g.19649074del - - ALDH3A2_000066 - PubMed: Sillen 1998 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Sillen 1998 - ? no Sweden - - - - - 1 Maximilian Weustenfeld
?/. - c.119A>G r.(?) p.(Asp40Gly) Unknown - VUS g.19552403A>G g.19649090A>G ALDH3A2(NM_001031806.1):c.119A>G (p.D40G) - ALDH3A2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ 1 c.126del r.(?) p.(Thr43Argfs*64) Maternal (confirmed) - likely pathogenic g.19552410del g.19649097del - - ALDH3A2_000072 - {DOI:Madhu Nagappa 2017: http:/​/​dx.​doi.​org/​10.​1212/​WNL.​0000000000003456} - - Germline - - - - - DNA PCR - - SLS - PubMed: Nagappa 2017{DOI:Madhu Nagappa 2017: http:/​/​dx.​doi.​org/​10.​1212/​WNL.​0000000000003456 } - M no India - - - - - 1 Maximilian Weustenfeld
+/. 1 c.126delG r.(?) p.(Thr43ArgfsTer64) Both (homozygous) - pathogenic g.19552410del g.19649097del - - ALDH3A2_000072 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4350 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
./. 1 c.142G>T r.(?) p.(Asp48Tyr) Both (homozygous) - likely pathogenic g.19552426G>T g.19649113G>T c.142G>T - ALDH3A2_000027 aspartic acid residue highly conserved among many members of ALDH family PubMed: Sakai 2010 - - Germline - - - - - DNA PCR - - SLS - PubMed: Sakai 2010 - F no India - - - - - 1 Maximilian Weustenfeld
+?/+ 1 c.142G>T r.(?) p.(Asp48Tyr) Both (homozygous) - likely pathogenic g.19552426G>T g.19649113G>T c.142G>T - ALDH3A2_000027 - PubMed: Sakai 2010 - - Germline - - - - - DNA PCR - - SLS - PubMed: Sakai 2010 - F no India - - - - multiple antiepileptic medications 1 Maximilian Weustenfeld
-?/. - c.154-5A>G r.spl? p.? Unknown - likely benign g.19554855A>G g.19651542A>G ALDH3A2(NM_001031806.2):c.154-5A>G - ALDH3A2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ 2 c.154_155del r.(?) p.(Ser52*) Unknown - likely pathogenic g.19554860_19554861del g.19651547_19651548del c.154_155delAG - ALDH3A2_000078 - PubMed: García-Peris 2017 - - Germline - - - - - DNA PCR - - SLS - PubMed: García-Peris 2017 - M no Spain - - - - - 1 Maximilian Weustenfeld
+/+ - c.286_296del r.(?) p.(Tyr96Thrfs*39) Unknown - pathogenic g.19554992_19555002del g.19651679_19651689del c.286_296del - ALDH3A2_000041 - PubMed: Carney 2004, Journal: Carney 2004 - - Germline - - - - - DNA PCR cultured cells or blood - SLS Pat1 PubMed: Carney 2004, Journal: Carney 2004 - ? ? (United States) - - - - - 1 Maximilian Weustenfeld
+/+ 2 c.299_365dup r.(?) p.(Ile123Alafs*38) Both (homozygous) - pathogenic g.19555005_19555071dup g.19651692_19651758dup c.299_365dup - ALDH3A2_000051 Associated with haplotype 2 (referred to 4 defined haplotypes, constructed using SNPs, for details see paper) PubMed: Carney 2004, Journal: Carney 2004 - - Germline - - - - - DNA PCR cultured cells or blood - SLS Pat12 PubMed: Carney 2004, Journal: Carney 2004 probably consanguineous parents ? - (United States) - - - - - 1 Maximilian Weustenfeld
+?/+ - c.317T>G r.(?) p.(Leu106Arg) Both (homozygous) - likely pathogenic g.19555023T>G g.19651710T>G - - ALDH3A2_000067 - PubMed: Sillen 1998 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Sillen 1998 - ? no Spain - - - - - 1 Maximilian Weustenfeld
+/+? - c.325G>A r.(?) p.(Gly109Arg) Both (homozygous) - pathogenic g.19555031G>A g.19651718G>A G109A - ALDH3A2_000111 published was G109A, submitter assumes that it should be c.325G>A in the cDNA sequence which is part of the codon coding for AS 109 in the protein. PubMed: Rafai 2008 - - Germline - - - - - DNA PCR - - SLS - PubMed: Rafai 2008 - F no Morocco - - - - - 1 Maximilian Weustenfeld
+?/+ 2 c.332G>A r.(?) p.(Trp111*) Paternal (confirmed) - likely pathogenic g.19555038G>A g.19651725G>A 332G>A - ALDH3A2_000035 truncated protein (about 80% loss of length of FALDH polypeptide) PubMed: Sakai 2006 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Sakai 2006 - F no Japan - - - - - 1 Maximilian Weustenfeld
+?/+ 2 c.370G>A r.(?) p.(Gly124Arg) Both (homozygous) - likely pathogenic g.19555076G>A g.19651763G>A c.370G>A - ALDH3A2_000008 - PubMed: Sarret 2012; Journal: Sarret 2012 - - Germline yes - - - - DNA PCR blood - SLS - PubMed: Sarret 2012; Journal: Sarret 2012 - F yes Algeria - - - - - 1 Maximilian Weustenfeld
+?/+ 2 c.371_373del r.(?) p.(Gly124del) Both (homozygous) - likely pathogenic g.19555077_19555079del g.19651764_19651766del c.370_372del - ALDH3A2_000077 - PubMed: Tavasoli 2016 - - Germline - - - - - DNA PCR - - SLS - PubMed: Tavasoli 2016 - M yes (Iran) - - - - - 1 Maximilian Weustenfeld
+?/+ 2 c.371_373del r.(?) p.(Gly124del) Both (homozygous) - likely pathogenic g.19555077_19555079del g.19651764_19651766del - - ALDH3A2_000077 - PubMed: Kariminejad 2017 - - Germline - - - - - DNA PCR blood - 3M2 - PubMed: Kariminejad 2017 - M yes Iran - - - - - 1 Maximilian Weustenfeld
+/+ - c.374_378del r.(?) p.(Ala125Glyfs*12) Unknown - pathogenic g.19555080_19555084del g.19651767_19651771del c.374_378del - ALDH3A2_000047 - PubMed: Carney 2004, Journal: Carney 2004 - - Germline - - - - - DNA PCR cultured cells or blood - SLS Pat5 PubMed: Carney 2004, Journal: Carney 2004 - ? ? United States - - - - - 1 Maximilian Weustenfeld
+?/+ - c.385+2T>C r.spl? p.? Parent #2 - likely pathogenic g.19555093T>C g.19651780T>C IVS2+2T>C - ALDH3A2_000061 splice site Mutation consequence: "out of frame deletion of exon 2; Termination" PubMed: Kraus 2000 - - Germline - - - - - DNA, RNA PCR, RT-PCR blood - SLS - PubMed: Kraus 2000 - ? no Germany - - - - - 1 Maximilian Weustenfeld
./. - c.386-6A>G r.(=) p.(=) Parent #1 - - g.19555854A>G g.19652541A>G - - ALDH3A2_000075 - PubMed: Rizzo 2008 - - Germline - - - - - DNA PCR - - SLS - PubMed: Rizzo 2008 - M - United States - - - - - 1 Maximilian Weustenfeld
-?/. - c.386-6A>G r.(=) p.(=) Unknown - likely benign g.19555854A>G g.19652541A>G ALDH3A2(NM_000382.2):c.386-6A>G (p.?), ALDH3A2(NM_000382.3):c.386-6A>G - ALDH3A2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.386-6A>G r.(=) p.(=) Unknown - benign g.19555854A>G - ALDH3A2(NM_000382.2):c.386-6A>G (p.?), ALDH3A2(NM_000382.3):c.386-6A>G - ALDH3A2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ 3 c.407C>T r.(?) p.(Pro136Leu) Maternal (confirmed) - likely pathogenic g.19555881C>T g.19652568C>T c.407C>T - ALDH3A2_000026 - PubMed: Engelstad 2011, Journal: Engelstad 2011 - - Germline - - - - - DNA FISH, PCRdig, PCRlr cultured fibroblasts and blood - SLS - PubMed: Engelstad 2011, Journal: Engelstad 2011 Mother: Irish and Cherokee Indian descent Father: English and American Indian descent F no United States - - - - - 1 Maximilian Weustenfeld
+/+ 3i c.471+1del r.spl? p.? Both (homozygous) - pathogenic g.19555946del g.19652633del c.471+1delG - ALDH3A2_000004 mRNA-analysis revealed three different transcripts (r.154-471del; r.386-471del; r.471delG) Journal: Sarret 2012; PubMed: Sarret 2012 - - Germline yes - - - - DNA PCR blood - SLS - PubMed: Sarret 2012; Journal: Sarret 2012 - F no France - - - - - 1 Maximilian Weustenfeld
+/+ 3i c.471+1del r.spl? p.? Maternal (inferred) - pathogenic g.19555946del g.19652633del c.471+1delG - ALDH3A2_000004 - PubMed: Sarret 2012; Journal: Sarret 2012 - - Germline yes - - - - DNA PCR blood - SLS - PubMed: Sarret 2012; Journal: Darret 2012 - F no France - - - - - 1 Maximilian Weustenfeld
+?/+ - c.471+1del r.spl? p.? Parent #1 - likely pathogenic g.19555946del g.19652633del IVS3+1delG - ALDH3A2_000004 splice site Mutation consequence: "del exon 2+3" PubMed: Kraus 2000 - - Germline - - - - - DNA, RNA PCR, RT-PCR blood - SLS - PubMed: Kraus 2000 - ? no Germany - - - - - 1 Maximilian Weustenfeld
+?/+ - c.471+1G>C r.spl? p.? Parent #2 - likely pathogenic g.19555946G>C g.19652633G>C IVS3+1G>C - ALDH3A2_000059 splice site Mutation consequence: "del exon 2 +3" PubMed: Kraus 2000 - - Germline - - - - - DNA, RNA PCR, RT-PCR blood - SLS - PubMed: Kraus 2000 - ? no Germany - - - - - 1 Maximilian Weustenfeld
+/+ - c.471+2T>G r.spl? p.? Maternal (confirmed) - pathogenic g.19555947T>G g.19652634T>G c.471+2T>G - ALDH3A2_000034 splice site mutation (involves donor splice site of exon 3, GT>GG); causes skipping of exons 2 and 3 PubMed: Didona 2007, Journal: Didona 2007 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Didona 2007, Journal: Didona 2007 - M ? Italy - - - - - 1 Maximilian Weustenfeld
+/+ - c.471+2T>G r.spl? p.? Parent #2 - pathogenic g.19555947T>G g.19652634T>G - - ALDH3A2_000034 - PubMed: Rizzo 2008 - - Germline - - - - - DNA PCR - - SLS - PubMed: Rizzo 2008 - F - United States - - - - - 1 Maximilian Weustenfeld
+/+ 3i c.472-1G>T r.spl? p.? Unknown - pathogenic g.19559678G>T g.19656365G>T c.472-1G>T - ALDH3A2_000005 RNA and protein changes according to paper: r.472-504del; p.Asp158-Glu168del Journal: Sarret 2012; PubMed: Sarret 2012 - - Germline yes - - - - DNA PCR blood - SLS - PubMed: Sarret 2012; Journal: Sarret 2012 - F no France - - - - - 1 Maximilian Weustenfeld
+?/+ 4 c.481del r.(?) p.(Ile161Leufs*14) Maternal (confirmed) - likely pathogenic g.19559688del g.19656375del 481delA - ALDH3A2_000039 - PubMed: Shibaki 2004, Journal: Shibaki 2004 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Shibaki 2004, Journal: Shibaki 2004 sibling of Pat2 (same paper) F ? Japan - - - - - 1 Maximilian Weustenfeld
+?/+ 4 c.481del r.(?) p.(Ile161Leufs*14) Maternal (confirmed) - likely pathogenic g.19559688del g.19656375del 481delA - ALDH3A2_000039 - PubMed: Shibaki 2004, Journal: Shibaki 2004 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Shibaki 2004, Journal: Shibaki 2004 sibling of Pat1 (same paper) M ? Japan - - - - - 1 Maximilian Weustenfeld
+/+ - c.487dup r.(?) p.(Ile163Asnfs*2) Both (homozygous) - pathogenic g.19559694dup g.19656381dup c.487_488insA - ALDH3A2_000015 - PubMed: Willemsen 2001 - - Germline - - - - - DNA PCRdig blood - SLS - PubMed: Willemsen 2001 - F no Turkey - - - - - 1 Maximilian Weustenfeld
+?/+ 4 c.503_504dup r.(?) p.(Glu169Argfs*7) Unknown - likely pathogenic g.19559710_19559711dup g.19656397_19656398dup c.504_505insAG - ALDH3A2_000023 - PubMed: Tachibana 2012, Journal: Tachibana 2012 - - Germline - - - - - DNA PCR - - SLS - PubMed: Tachibana 2012, Journal: Tachibana 2012 - F ? (Japan) - - - - - 1 Maximilian Weustenfeld
+/. 4 c.521del r.521del p.Leu174Argfs*28 Paternal (confirmed) - pathogenic g.19559728del g.19656415del T521del - ALDH3A2_000001 - PubMed: De Laurenzi 1996 - rs387906254 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - SLS Pat1 PubMed: De Laurenzi 1996 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - 1 Johan den Dunnen
+/+ 4 c.529C>T r.(?) p.(Arg177*) Unknown - pathogenic g.19559736C>T g.19656423C>T c.529C>T - ALDH3A2_000046 Associated with haplotype 2 (referred to 4 defined haplotypes, constructed using SNPs, for details see paper) PubMed: Carney 2004, Journal: Carney 2004 - - Germline - - - - - DNA PCR cultured cells or blood - SLS Pat5 PubMed: Carney 2004, Journal: Carney 2004 - ? ? United States - - - - - 1 Maximilian Weustenfeld
+?/+ 4 c.529C>T r.(?) p.(Arg177*) Paternal (confirmed) - likely pathogenic g.19559736C>T g.19656423C>T - - ALDH3A2_000046 - {DOI:Madhu Nagappa 2017: http:/​/​dx.​doi.​org/​10.​1212/​WNL.​0000000000003456} - - Germline - - - - - DNA PCR - - SLS - PubMed: Nagappa 2017{DOI:Madhu Nagappa 2017: http:/​/​dx.​doi.​org/​10.​1212/​WNL.​0000000000003456 } - M no India - - - - - 1 Maximilian Weustenfeld
+?/+ 4 c.536A>T r.(?) p.(Asp179Val) Unknown - likely pathogenic g.19559743A>T g.19656430A>T c.536A>T - ALDH3A2_000079 - PubMed: García-Peris - - Germline - - - - - DNA PCR - - SLS - PubMed: García-Peris 2017 - M no Spain - - - - - 1 Maximilian Weustenfeld
+/+ - c.551C>G r.(?) p.(Thr184Arg) Both (homozygous) - pathogenic g.19559758C>G g.19656445C>G c.551G>C (??) - ALDH3A2_000044 ?? PubMed: Carney 2004, Journal: Carney 2004 - - Germline - - - - - DNA PCR cultured cells or blood - SLS Pat3 PubMed: Carney 2004, Journal: Carney 2004 probably consanguineous parents ? - (United States) - - - - - 1 Maximilian Weustenfeld
+/+ - c.551C>T r.(?) p.(Thr184Met) Unknown - pathogenic g.19559758C>T g.19656445C>T c.551C>T - ALDH3A2_000017 - PubMed: Willemsen 2001 - - Germline - - - - - DNA PCRdig blood - SLS - PubMed: Willemsen 2001 - M no Netherlands - - - - - 1 Maximilian Weustenfeld
+/+ - c.551C>T r.(?) p.(Thr184Met) Unknown - pathogenic g.19559758C>T g.19656445C>T c.551C>T - ALDH3A2_000017 - PubMed: Willemsen 2001 - - Germline - - - - - DNA PCRdig blood - SLS - PubMed: Willemsen 2001 - F no Netherlands - - - - - 1 Maximilian Weustenfeld
+?/+ - c.551C>T r.(?) p.(Thr184Met) Parent #2 - likely pathogenic g.19559758C>T g.19656445C>T Thr184Met - ALDH3A2_000017 - PubMed: Jean-François 2007 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Jean-François 2007 - M ? (United States) African American - - - - 1 Maximilian Weustenfeld
+?/+ - c.551C>T r.(?) p.(Thr184Met) Both (homozygous) - likely pathogenic g.19559758C>T g.19656445C>T - - ALDH3A2_000017 - PubMed: Papathemeli 2017 - - Germline - - - - - DNA PCR - - SLS - PubMed: Papathemeli 2017 - F yes Greece - - - - - 1 Maximilian Weustenfeld
+/. - c.551C>T r.(?) p.(Thr184Met) Both (homozygous) ACMG pathogenic (recessive) g.19559758C>T g.19656445C>T - - ALDH3A2_000017 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8600492 PubMed: Hu 2019 family, 2 affected individuals - - Iran Persia - - - - 2 Johan den Dunnen
+/+ - c.554G>C r.(?) p.(Gly185Ala) Parent #2 - pathogenic g.19559761G>C g.19656448G>C - - ALDH3A2_000076 - PubMed: Rizzo 2008 - - Germline - - - - - DNA PCR - - SLS - PubMed: Rizzo 2008 - M - United States - - - - - 1 Maximilian Weustenfeld
-?/. - c.563C>T r.(?) p.(Ala188Val) Unknown - likely benign g.19559770C>T - ALDH3A2(NM_000382.3):c.563C>T (p.A188V) - ALDH3A2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.619dup r.(?) p.(Glu207Glyfs*11) Paternal (confirmed) - pathogenic g.19559826dup g.19656513dup c.619_620insG - ALDH3A2_000007 - PubMed: Sarret 2012; Journal: Darret 2012 - - Germline yes - - - - DNA PCR blood - SLS - PubMed: Sarret 2012; Journal: Darret 2012 - F no France - - - - - 1 Maximilian Weustenfeld
+/. - c.628G>A r.(?) p.(Gly210Arg) Both (homozygous) - pathogenic (recessive) g.19559835G>A g.19656522G>A - - ALDH3A2_000129 - PubMed: Makrythanasis 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Family_46 PubMed: Makrythanasis 2014 family, 2 affected - yes Jordan - - - - - 2 Johan den Dunnen
+?/+ 4 c.631A>G r.(?) p.(Lys211Glu) Both (homozygous) - likely pathogenic g.19559838A>G g.19656525A>G - - ALDH3A2_000083 - PubMed: Kariminejad 2017 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Kariminejad 2017 - M yes Iran - - - - anticonvulsants 1 Maximilian Weustenfeld
+?/+ 4 c.636T>G r.(?) p.(Ser212Arg) Maternal (confirmed) - likely pathogenic g.19559843T>G g.19656530T>G 636T>G - ALDH3A2_000036 affected serine residue at codon 212 is conserved among several species PubMed: Sakai 2006 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Sakai 2006 - F no Japan - - - - - 1 Maximilian Weustenfeld
+/+ - c.641G>A r.(?) p.(Cys214Tyr) Both (homozygous) - pathogenic g.19559848G>A g.19656535G>A - - ALDH3A2_000073 - PubMed: De Laurenzi 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SLS - PubMed: De Laurenzi 1996 - M yes Egypt - - - - - 1 Maximilian Weustenfeld
+?/+ 4 c.648_649insAT r.(?) p.(Asp217Metfs*14) Both (homozygous) - likely pathogenic g.19559855_19559856insAT g.19656542_19656543insAT c.648_649insAT - ALDH3A2_000009 - PubMed: Sarret 2012; Journal: Sarret 2012 - - Germline yes - - - - DNA PCR blood - SLS - PubMed: Sarret 2012; Journal: Sarret 2012 - M yes Tunisia - - - - - 1 Maximilian Weustenfeld
?/. - c.651T>G r.(?) p.(Asp217Glu) Unknown - VUS g.19559858T>G g.19656545T>G ALDH3A2(NM_001031806.1):c.651T>G (p.D217E) - ALDH3A2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ - c.678C>G r.(?) p.(Cys226Trp) Both (homozygous) - likely pathogenic g.19559885C>G g.19656572C>G - - ALDH3A2_000068 - PubMed: Sillen 1998 - - Germline - - - - - DNA PCR blood - SLS - PubMed: Sillen 1998 - ? yes Sweden - - - - - 1 Maximilian Weustenfeld
+/+? - c.680+1G>A r.spl? p.? Paternal (confirmed) - pathogenic g.19559888G>A g.19656575G>A - - ALDH3A2_000113 - PubMed: Jain 2015 - - Germline - - - - - DNA PCR - - SLS - PubMed: Jain 2015 patients 3 and 4 are brothers M yes (India) - - - - - 1 Maximilian Weustenfeld
+/+? - c.680+1G>A r.spl? p.? Paternal (confirmed) - pathogenic g.19559888G>A g.19656575G>A - - ALDH3A2_000113 - PubMed: Jain 2015 - - Germline - - - - - DNA PCR - - SLS - PubMed: Jain 2015 patients 3 and 4 are brothers M yes (India) - - - - - 1 Maximilian Weustenfeld
-/. - c.681-37_681-30del r.(=) p.(=) Unknown - benign g.19561021_19561028del g.19657708_19657715del ALDH3A2(NM_001031806.2):c.681-37_681-30delCTGAATTA - ALDH3A2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ - c.681-14T>C r.(=) p.(=) Both (homozygous) - likely pathogenic g.19561044T>C g.19657731T>C c.681-14T>C - ALDH3A2_000018 - PubMed: Burgueno-Montanés 2014 - - Germline - - - - - DNA ? - - SLS - PubMed: Burgueno-Montanés 2014 probably consanguinity M ? (Spain) - - - - - 1 Maximilian Weustenfeld
-?/. - c.681-9dup r.(=) p.(=) Unknown - likely benign g.19561049dup - ALDH3A2(NM_000382.3):c.681-9dup - ALDH3A2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.682C>T r.(?) p.(Arg228Cys) Both (homozygous) - pathogenic g.19561059C>T g.19657746C>T c.682C>T - ALDH3A2_000038 - PubMed: Lossos 2006, Journal: Lossos 2006 - - Germline - - - - - DNA PCR, PCRdig - - SLS - PubMed: Lossos 2006, Journal: Lossos 2006 Patients 1-6 of this paper are siblings F yes Israel Arab - - - - 1 Maximilian Weustenfeld
+/+ 5 c.682C>T r.(?) p.(Arg228Cys) Both (homozygous) - pathogenic g.19561059C>T g.19657746C>T c.682C>T - ALDH3A2_000038 - PubMed: Lossos 2006, Journal: Lossos 2006 - - Germline - - - - - DNA PCR, PCRdig - - SLS - PubMed: Lossos 2006, Journal: Lossos 2006 Patients 1-6 of this paper are siblings M yes Israel Arab - - - - 1 Maximilian Weustenfeld
+/+ 5 c.682C>T r.(?) p.(Arg228Cys) Both (homozygous) - pathogenic g.19561059C>T g.19657746C>T c.682C>T - ALDH3A2_000038 - PubMed: Lossos 2006, Journal: Lossos 2006 - - Germline - - - - - DNA PCR, PCRdig - - SLS - PubMed: Lossos 2006, Journal: Lossos 2006 Patients 1-6 of this paper are siblings F yes Israel Arab - - - - 1 Maximilian Weustenfeld
+/+ 5 c.682C>T r.(?) p.(Arg228Cys) Both (homozygous) - pathogenic g.19561059C>T g.19657746C>T c.682C>T - ALDH3A2_000038 - PubMed: Lossos 2006, Journal: Lossos 2006 - - Germline - - - - - DNA PCR, PCRdig - - SLS - PubMed: Lossos 2006, Journal: Lossos 2006 Patients 1-6 of this paper are siblings F yes Israel Arab - - - - 1 Maximilian Weustenfeld
+/+ 5 c.682C>T r.(?) p.(Arg228Cys) Both (homozygous) - pathogenic g.19561059C>T g.19657746C>T c.682C>T - ALDH3A2_000038 - PubMed: Lossos 2006, Journal: Lossos 2006 - - Germline - - - - - DNA PCR, PCRdig - - SLS - PubMed: Lossos 2006, Journal: Lossos 2006 Patients 1-6 of this paper are siblings M yes Israel Arab - - - - 1 Maximilian Weustenfeld
+/+ 5 c.682C>T r.(?) p.(Arg228Cys) Both (homozygous) - pathogenic g.19561059C>T g.19657746C>T c.682C>T - ALDH3A2_000038 - PubMed: Lossos 2006, Journal: Lossos 2006 - - Germline - - - - - DNA PCR, PCRdig - - SLS - PubMed: Lossos 2006, Journal: Lossos 2006 Patients 1-6 of this paper are siblings M yes Israel Arab - - - - 1 Maximilian Weustenfeld
+?/+ - c.682C>T r.(?) p.(Arg228Cys) Both (homozygous) - likely pathogenic g.19561059C>T g.19657746C>T c.682C>T - ALDH3A2_000038 - PubMed: Shamriz 2016 - - Germline - - - - - DNA PCR - - SLS - PubMed: Shamriz 2016 - M - Israel - - - - - 1 Maximilian Weustenfeld
+?/+ - c.682C>T r.(?) p.(Arg228Cys) Both (homozygous) - likely pathogenic g.19561059C>T g.19657746C>T c.682C>T - ALDH3A2_000038 - PubMed: Shamriz 2016 - - Germline - - - - - DNA PCR - - SLS - PubMed: Shamriz 2016 - M yes Israel - - - - - 1 Maximilian Weustenfeld
+?/+ - c.682C>T r.(?) p.(Arg228Cys) Unknown - likely pathogenic g.19561059C>T g.19657746C>T c.682T>A ?!!! - ALDH3A2_000038 Submitter assumes that it should be c.682C>T (= a known mutation). Published was "c.682T>A"! (probably a mistake because there is no T at position 682) PubMed: Hidalgo 2017 - - Germline - - - - - DNA PCR - - SLS - PubMed: Hidalgo 2017 - M ? United States - - - - - 1 Maximilian Weustenfeld
+?/+? - c.682C>T r.(?) p.(Arg228Cys) Both (homozygous) - likely pathogenic g.19561059C>T g.19657746C>T - - ALDH3A2_000038 - * - - Germline - - - - - DNA PCR - - SLS - - - F - - - - - - - 1 Maximilian Weustenfeld
+?/. - c.682C>T r.(?) p.(Arg228Cys) Unknown - likely pathogenic g.19561059C>T g.19657746C>T - - ALDH3A2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.682C>T r.(?) p.(Arg228Cys) Unknown ACMG likely pathogenic g.19561059C>T - - - ALDH3A2_000038 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.682C>T r.(?) p.(Arg228Cys) Both (homozygous) - likely pathogenic g.19561059C>T g.19657746C>T c.682C>T, p.(Arg228Cys) - ALDH3A2_000038 homozygous PubMed: Abu Diab 2019 - - Germline yes - - - - DNA SEQ-NG, arraySNP, SEQ blood whole exome sequencing, SNP array homozygosity mapping retinal disease MOL1592 II:5 PubMed: Abu Diab 2019 - F yes Israel Arabic - - - - 1 LOVD
+?/. - c.682C>T r.(?) p.(Arg228Cys) Both (homozygous) - likely pathogenic g.19561059C>T g.19657746C>T ALDH3A2 c.682C>T, (p.Arg228Cys) - ALDH3A2_000038 homozygous PubMed: Alabdullatif 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease 186 PubMed: Alabdullatif 2017 - F yes United Arab Emirates - - - - - 1 LOVD
+?/+ 5 c.683G>A r.(?) p.(Arg228His) Both (homozygous) - likely pathogenic g.19561060G>A g.19657747G>A CGC>CAC in codon 228 - ALDH3A2_000021 - PubMed: Yis 2012 - - Germline - - - - - DNA ? - - SLS - PubMed: Yis 2012 - F yes Turkey - - - - "multiple antiepileptic medications" 1 Maximilian Weustenfeld
+/+? - c.683G>A r.(?) p.(Arg228His) Both (homozygous) - pathogenic g.19561060G>A g.19657747G>A - - ALDH3A2_000021 - PubMed: Vural 2018 - - Germline - - - - - DNA PCR - - SLS - PubMed: Vural 2018 - M yes (Germany) - - - - oral Acitretin + topical emolients 1 Maximilian Weustenfeld
+/+? - c.683G>A r.(?) p.(Arg228His) Both (homozygous) - pathogenic g.19561060G>A g.19657747G>A - - ALDH3A2_000021 - PubMed: Vural 2018 - - Germline - - - - - DNA PCR - - SLS - PubMed: Vural 2018 - M yes (Germany) - - - - oral Acitretin + topical emolients 1 Maximilian Weustenfeld
+/+? - c.683G>A r.(?) p.(Arg228His) Both (homozygous) - pathogenic g.19561060G>A g.19657747G>A - - ALDH3A2_000021 - PubMed: Vural 2018 - - Germline - - - - - DNA PCR - - SLS - PubMed: Vural 2018 - M yes (Germany) - - - - oral Acitretin + topical emolients 1 Maximilian Weustenfeld
+/+? - c.683G>A r.(?) p.(Arg228His) Both (homozygous) - pathogenic g.19561060G>A g.19657747G>A - - ALDH3A2_000021 - PubMed: Vural 2018 - - Germline - - - - - DNA PCR - - SLS - PubMed: Vural 2018 - F yes (Germany) - - - - oral Acitretin + topical emolients 1 Maximilian Weustenfeld
+/+? - c.683G>A r.(?) p.(Arg228His) Both (homozygous) - pathogenic g.19561060G>A g.19657747G>A - - ALDH3A2_000021 - PubMed: Vural 2018 - - Germline - - - - - DNA PCR - - SLS - PubMed: Vural 2018 - M yes (Germany) - - - - oral Acitretin + topical emolients 1 Maximilian Weustenfeld
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