Total 209 pathogenic variants reported for Pyridoxine-dependent epilepsy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) SNV
Germline
Chr5:126552059 Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy
Condition: not provided
Seizure
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
Criteria Provided
Multiple Submitters
No Conflicts
CA258070 rs_121912707

32 SubmittersRCV000019610RCV000186744RCV000718443RCV002227440

NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) SNV
Germline
Chr5:126583997 Pathogenic Pyridoxine-dependent epilepsy
Seizure
Ventriculomegaly
Condition: not provided
See cases
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA258073 rs_121912708

12 SubmittersRCV000019611RCV000415171RCV000480396RCV002251913RCV002444436

NM_001182.5(ALDH7A1):c.518-1G>C SNV
Germline
Chr5:126577212 Pathogenic Pyridoxine-dependent epilepsy
See cases
Criteria Provided
Multiple Submitters
No Conflicts
rs_779494572

4 SubmittersRCV000019612RCV004584333

NM_001182.5(ALDH7A1):c.312+2T>A SNV
Germline
Chr5:126592662 Pathogenic Pyridoxine-dependent epilepsy No Assertion Criteria Provided
rs_1561672504

1 SubmittersRCV000019613

NM_001182.5(ALDH7A1):c.596C>T (p.Ala199Val) SNV
Germline
Chr5:126577133 Pathogenic Pyridoxine-dependent epilepsy No Assertion Criteria Provided
CA258077 rs_121912709

1 SubmittersRCV000019614

NM_001182.5(ALDH7A1):c.1224T>G (p.Tyr408Ter) SNV
Germline
Chr5:126552114 Pathogenic Pyridoxine-dependent epilepsy
Condition: not provided
Criteria Provided
Single Submitter
CA258081 rs_121912710

2 SubmittersRCV000019616RCV000255947

NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile) SNV
Germline
Chr5:126561094 Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA258085 rs_121912711

6 SubmittersRCV000019617RCV001582488

NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) SNV
Germline
Chr5:126568296 Pathogenic/Likely pathogenic Condition: not provided
Pyridoxine-dependent epilepsy
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA3389640 rs_201948406

9 SubmittersRCV000255917RCV000019618RCV002433461

NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) SNV
Germline
Chr2:165314101 Conflicting classifications of pathogenicity not specified
Complex neurodevelopmental disorder
Pyridoxine-dependent epilepsy
Condition: not provided
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Febrile seizure (within the age range of 3 months to 6 years)
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA231486 rs_184769423

8 SubmittersRCV000189212RCV001265406RCV000678841RCV000733650RCV001080949RCV003155918RCV002316316

NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=) SNV
Germline
Chr5:126577114 Conflicting classifications of pathogenicity not specified
Pyridoxine-dependent epilepsy
Condition: not provided
ALDH7A1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA289404 rs_369380330

6 SubmittersRCV000123614RCV000284381RCV003430684RCV003952636RCV002312817

NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) SNV
Germline
Chr5:126552075 Conflicting classifications of pathogenicity not specified
Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA289413 rs_587780850

4 SubmittersRCV000123623RCV000725403RCV001088015

NM_001182.5(ALDH7A1):c.1093+1G>A SNV
Germline
Chr5:126555930 Pathogenic Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Multiple Submitters
No Conflicts
CA274970 rs_794727058

2 SubmittersRCV000174294RCV003517138

NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala) SNV
Germline
Chr5:126582874 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA303020 rs_375491094

5 SubmittersRCV000724449RCV001156822

NM_001182.5(ALDH7A1):c.*5G>A SNV
Germline
Chr5:126544960 Conflicting classifications of pathogenicity not specified
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA313155 rs_759591318

2 SubmittersRCV000186719RCV001151276

NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg) SNV
Germline
Chr5:126546376 Pathogenic Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Multiple Submitters
No Conflicts
CA313211 rs_556400964

6 SubmittersRCV000186750RCV000545498

NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe) SNV
Germline
Chr5:126550236 Pathogenic/Likely pathogenic Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Multiple Submitters
No Conflicts
CA313205 rs_186558364

3 SubmittersRCV000186747RCV001227681

NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys) SNV
Germline
Chr5:126552037 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
not specified
Criteria Provided
Conflicting Classifications
CA313203 rs_747597620

3 SubmittersRCV000186746RCV000641165RCV003230442

NM_001182.5(ALDH7A1):c.1281G>T (p.Glu427Asp) SNV
Germline
Chr5:126552057 Pathogenic Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Multiple Submitters
No Conflicts
CA313235 rs_796052271

2 SubmittersRCV000186763RCV003517144

NM_001182.5(ALDH7A1):c.1022G>A (p.Ser341Asn) SNV
Germline
Chr5:126556002 Conflicting classifications of pathogenicity not specified
Pyridoxine-dependent epilepsy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA313151 rs_141701364

3 SubmittersRCV000186717RCV000821146RCV002408828

NM_001182.5(ALDH7A1):c.1016A>G (p.His339Arg) SNV
Germline
Chr5:126556008 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA313233 rs_199767457

3 SubmittersRCV000186762RCV000532106

NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) SNV
Germline
Chr5:126559244 Pathogenic/Likely pathogenic Condition: not provided
Pyridoxine-dependent epilepsy
UDPglucose-4-epimerase deficiency
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA313172 rs_754449549

5 SubmittersRCV000186728RCV000796632RCV004526634RCV004539734

NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) SNV
Germline
Chr5:126575451 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA313173 rs_777829351

6 SubmittersRCV000186729RCV000466667RCV002362975

NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly) SNV
Germline
Chr5:126577122 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA313170 rs_555896752

3 SubmittersRCV000186727RCV001785493

NM_001182.5(ALDH7A1):c.553G>A (p.Val185Ile) SNV
Germline
Chr5:126577176 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA313168 rs_61757685

3 SubmittersRCV000186726RCV000702625RCV002517836

NM_001182.5(ALDH7A1):c.365G>C (p.Arg122Pro) SNV
Germline
Chr5:126583960 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA313162 rs_796052256

3 SubmittersRCV000186723RCV001043918RCV002516977

NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp) SNV
Germline
Chr5:126583961 Conflicting classifications of pathogenicity not specified
Pyridoxine-dependent epilepsy
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA313231 rs_370624118

5 SubmittersRCV000186761RCV000556036RCV000766382RCV002317069

NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn) SNV
Germline
Chr5:126593394 Conflicting classifications of pathogenicity Condition: not provided
Intractable seizure
Inborn genetic diseases
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA313177 rs_58528748

7 SubmittersRCV000186731RCV000678776RCV002415800RCV000641168

NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met) SNV
Germline
Chr5:126593397 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA313175 rs_543181020

4 SubmittersRCV000186730RCV001084645RCV002415799

NM_001182.5(ALDH7A1):c.23T>C (p.Leu8Pro) SNV
Germline
Chr5:126595176 Conflicting classifications of pathogenicity not specified
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA313160 rs_796052255

2 SubmittersRCV000186722RCV002513976

NM_001182.5(ALDH7A1):c.1489+4C>T SNV
Germline
Chr5:126549925 Conflicting classifications of pathogenicity not specified
Pyridoxine-dependent epilepsy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA208458 rs_775065938

3 SubmittersRCV000194343RCV001236927RCV002054250

NM_001182.5(ALDH7A1):c.201G>T (p.Thr67=) SNV
Germline
Chr5:126593396 Conflicting classifications of pathogenicity not specified
Pyridoxine-dependent epilepsy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA205157 rs_747643987

4 SubmittersRCV000192375RCV001151409RCV001721245

NM_001182.5(ALDH7A1):c.1193G>T (p.Gly398Val) SNV
Germline
Chr5:126554294 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
CA349197 rs_864622557

1 SubmittersRCV000205037

NM_001182.5(ALDH7A1):c.986G>A (p.Arg329Lys) SNV
Germline
Chr5:126559262 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
CA350412 rs_864622558

1 SubmittersRCV000206370

NM_001182.5(ALDH7A1):c.584A>G (p.Asn195Ser) SNV
Germline
Chr5:126577145 Pathogenic Pyridoxine-dependent epilepsy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA350800 rs_372660425

4 SubmittersRCV000206803RCV000484609

NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His) SNV
Germline
Chr5:126550205 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Intellectual disability
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3389431 rs_147940248

5 SubmittersRCV000256146RCV000327621RCV001252144RCV002392780

NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) SNV
Germline
Chr5:126577154 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
ALDH7A1-related disorder
Criteria Provided
Conflicting Classifications
CA3389728 rs_376917645

5 SubmittersRCV000255618RCV000691250RCV003422188

NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) SNV
Germline
Chr5:126577200 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3389735 rs_140102105

5 SubmittersRCV000255047RCV001785540RCV002282091RCV002347969

NM_001182.5(ALDH7A1):c.312+1G>A SNV
Germline
Chr5:126592663 Pathogenic/Likely pathogenic Condition: not provided
neonatal seizures
Pyridoxine-dependent epilepsy
Criteria Provided
Multiple Submitters
No Conflicts
CA3389815 rs_199497486

4 SubmittersRCV000255069RCV000678777RCV001234914

NM_001182.5(ALDH7A1):c.1489+5G>A SNV
Germline
Chr5:126549924 Pathogenic Condition: not provided
Inborn genetic diseases
Pyridoxine-dependent epilepsy
Criteria Provided
Multiple Submitters
No Conflicts
CA3389398 rs_368820286

5 SubmittersRCV000408272RCV000624841RCV001203133

NM_001182.5(ALDH7A1):c.63T>C (p.Pro21=) SNV
Germline
Chr5:126595136 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA3389933 rs_368427726

4 SubmittersRCV000725943RCV001079805

NM_001182.5(ALDH7A1):c.1008+11C>T SNV
Germline
Chr5:126559229 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy Criteria Provided
Conflicting Classifications
CA3389569 rs_367574304

2 SubmittersRCV000342772

NM_001182.4(ALDH7A1):c.-80T>G SNV
Germline
Chr5:126595278 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy
Condition: not provided
Inborn genetic diseases
ALDH7A1-related disorder
Criteria Provided
Conflicting Classifications
CA3389960 rs_563928852

5 SubmittersRCV000365925RCV000998422RCV002520297RCV003902359

NM_001182.5(ALDH7A1):c.394-15G>A SNV
Germline
Chr5:126582989 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy Criteria Provided
Conflicting Classifications
CA3389773 rs_766287925

2 SubmittersRCV000280965

NM_001182.5(ALDH7A1):c.*1730C>T SNV
Germline
Chr5:126543235 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10622388 rs_185960737

2 SubmittersRCV000397393RCV003430895

NM_001182.5(ALDH7A1):c.313-15G>A SNV
Germline
Chr5:126584027 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy
not specified
Criteria Provided
Conflicting Classifications
CA3389799 rs_201720741

3 SubmittersRCV000394169RCV000433077

NM_001182.5(ALDH7A1):c.1376T>C (p.Ile459Thr) SNV
Germline
Chr5:126550235 Conflicting classifications of pathogenicity not specified
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA16042571 rs_1057518529

2 SubmittersRCV000413292RCV000799588

NM_001182.5(ALDH7A1):c.1566-1G>T SNV
Germline
Chr5:126545020 Pathogenic Seizure
Ventriculomegaly
Pyridoxine-dependent epilepsy
Condition: not provided
ALDH7A1-related disorder
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
Criteria Provided
Multiple Submitters
No Conflicts
CA3389347 rs_140845195

7 SubmittersRCV000414868RCV000558837RCV000523518RCV003902460RCV003993949

NM_001182.5(ALDH7A1):c.393+15T>C SNV
Germline
Chr5:126583917 Conflicting classifications of pathogenicity not specified
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA3389785 rs_183254966

3 SubmittersRCV000441435RCV001151406

NM_001182.5(ALDH7A1):c.913+8T>C SNV
Germline
Chr5:126561075 Conflicting classifications of pathogenicity not specified
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA3389603 rs_766528289

3 SubmittersRCV000424179RCV000868855

NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala) SNV
Germline
Chr5:126552062 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3389468 rs_150305320

4 SubmittersRCV000417460RCV000814956RCV002374690

NM_001182.5(ALDH7A1):c.961G>A (p.Ala321Thr) SNV
Germline
Chr5:126559287 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA3389574 rs_746212816

2 SubmittersRCV000438267RCV001851038

NM_001182.5(ALDH7A1):c.552C>T (p.Pro184=) SNV
Germline
Chr5:126577177 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA3389730 rs_369859575

3 SubmittersRCV000734283RCV001080510

NM_001182.5(ALDH7A1):c.247-1G>C SNV
Germline
Chr5:126592730 Likely pathogenic Pyridoxine-dependent epilepsy
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA16611664 rs_1060502949

3 SubmittersRCV000468096RCV001266223

NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu) SNV
Germline
Chr5:126577199 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Multiple Submitters
No Conflicts
CA3389734 rs_764417585

3 SubmittersRCV000471461

NM_001182.5(ALDH7A1):c.1565+1G>T SNV
Germline
Chr5:126546323 Pathogenic/Likely pathogenic Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Multiple Submitters
No Conflicts
CA16618098 rs_1064793830

4 SubmittersRCV000485613RCV001387758

NM_001182.5(ALDH7A1):c.1551G>A (p.Met517Ile) SNV
Germline
Chr5:126546338 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA16618099 rs_1064794774

2 SubmittersRCV000479462RCV002525855

NM_001182.5(ALDH7A1):c.394-1G>C SNV
Germline
Chr5:126582975 Pathogenic/Likely pathogenic Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Multiple Submitters
No Conflicts
CA16618102 rs_1064794053

3 SubmittersRCV000481389RCV001865441

NM_001182.5(ALDH7A1):c.177G>A (p.Trp59Ter) SNV
Germline
Chr5:126595022 Pathogenic Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Multiple Submitters
No Conflicts
CA16618103 rs_1064794242

2 SubmittersRCV000484489RCV003517199

NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser) SNV
Germline
Chr5:126577140 Pathogenic Condition: not provided
Pyridoxine-dependent epilepsy
Developmental and epileptic encephalopathy, 13
Criteria Provided
Multiple Submitters
No Conflicts
CA3389726 rs_779652673

4 SubmittersRCV000489345RCV000554558RCV001822859

NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu) SNV
Germline
Chr5:126552106 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3389477 rs_780233639

6 SubmittersRCV000494142RCV001236631RCV002318597

NM_001182.5(ALDH7A1):c.632G>T (p.Cys211Phe) SNV
Germline
Chr5:126577097 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA360731005 rs_1131691976

2 SubmittersRCV000493900RCV001294984

NM_001182.5(ALDH7A1):c.979G>A (p.Gly327Ser) SNV
Germline
Chr5:126559269 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA360726662 rs_1554099008

2 SubmittersRCV000519014RCV001204101

NM_001182.5(ALDH7A1):c.246+1G>A SNV
Germline
Chr5:126593350 Pathogenic/Likely pathogenic Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Multiple Submitters
No Conflicts
CA3389857 rs_764588746

4 SubmittersRCV000519378RCV000791513

NM_001182.5(ALDH7A1):c.1559C>T (p.Ser520Phe) SNV
Germline
Chr5:126546330 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA360718807 rs_1554097854

3 SubmittersRCV000544167RCV002404449RCV003441932

NM_001182.5(ALDH7A1):c.1200+1G>T SNV
Germline
Chr5:126554286 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
CA360723732 rs_1217642695

1 SubmittersRCV000546567

NM_001182.5(ALDH7A1):c.246+6A>T SNV
Germline
Chr5:126593345 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3389852 rs_759910341

2 SubmittersRCV000527906RCV001704672

NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter) SNV
Germline
Chr5:126568334 Pathogenic Pyridoxine-dependent epilepsy
Condition: not provided
See cases
Criteria Provided
Multiple Submitters
No Conflicts
CA360729452 rs_1270423610

6 SubmittersRCV000553088RCV000760371RCV002252160

NM_001182.5(ALDH7A1):c.423G>C (p.Val141=) SNV
Germline
Chr5:126582945 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy Criteria Provided
Conflicting Classifications
CA3389769 rs_199653162

2 SubmittersRCV000524837

NM_001182.5(ALDH7A1):c.192+3A>T SNV
Germline
Chr5:126595004 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
CA3389907 rs_773814169

1 SubmittersRCV000534592

NM_001182.5(ALDH7A1):c.1017T>C (p.His339=) SNV
Germline
Chr5:126556007 Conflicting classifications of pathogenicity not specified
Condition: not provided
Pyridoxine-dependent epilepsy
Inborn genetic diseases
ALDH7A1-related disorder
Criteria Provided
Conflicting Classifications
CA3389555 rs_200394848

6 SubmittersRCV000600212RCV000733776RCV001084375RCV002350488RCV003980161

NM_001182.5(ALDH7A1):c.222C>T (p.Asn74=) SNV
Germline
Chr5:126593375 Conflicting classifications of pathogenicity not specified
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA126925158 rs_1007871645

3 SubmittersRCV000602094RCV001151408

NM_001182.5(ALDH7A1):c.696-3T>C SNV
Germline
Chr5:126570862 Conflicting classifications of pathogenicity not specified
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
CA3389675 rs_749516893

2 SubmittersRCV000615061RCV001868060

NM_001182.5(ALDH7A1):c.987G>T (p.Arg329Ser) SNV
Germline
Chr5:126559261 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_761295869

1 SubmittersRCV000690451

NM_001182.5(ALDH7A1):c.651-5T>C SNV
Germline
Chr5:126575469 Conflicting classifications of pathogenicity Inborn genetic diseases
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
rs_770931075

2 SubmittersRCV002315391RCV003768140

NM_001182.5(ALDH7A1):c.394-5T>C SNV
Germline
Chr5:126582979 Conflicting classifications of pathogenicity Inborn genetic diseases
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
rs_1299570489

2 SubmittersRCV002317522RCV002533051

NM_001182.5(ALDH7A1):c.387A>C (p.Gly129=) SNV
Germline
Chr5:126583938 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
ALDH7A1-related disorder
Criteria Provided
Conflicting Classifications
rs_1467521069

3 SubmittersRCV000728847RCV001396110RCV003928219

NM_001182.5(ALDH7A1):c.1176T>C (p.Gly392=) SNV
Germline
Chr5:126554311 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
rs_935431600

3 SubmittersRCV000731182RCV002535196

NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) SNV
Germline
Chr5:126546333 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy Criteria Provided
Conflicting Classifications
rs_561343926

7 SubmittersRCV000761480

NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys) SNV
Germline
Chr5:126546342 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Multiple Submitters
No Conflicts
rs_200102503

4 SubmittersRCV000802615

NM_001182.5(ALDH7A1):c.1003C>T (p.Arg335Ter) SNV
Germline
Chr5:126559245 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Multiple Submitters
No Conflicts
rs_1015686016

3 SubmittersRCV000807892

NM_001182.5(ALDH7A1):c.332G>A (p.Gly111Glu) SNV
Germline
Chr5:126583993 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_994001880

1 SubmittersRCV000824644

NM_001182.5(ALDH7A1):c.192G>C (p.Glu64Asp) SNV
Germline
Chr5:126595007 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_1581409051

1 SubmittersRCV000801149

NM_001182.5(ALDH7A1):c.914-2A>C SNV
Germline
Chr5:126559336 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_1581368665

1 SubmittersRCV000816313

NM_001182.5(ALDH7A1):c.528T>C (p.His176=) SNV
Germline
Chr5:126577201 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy Criteria Provided
Conflicting Classifications
rs_757135576

2 SubmittersRCV000864206

NM_001182.5(ALDH7A1):c.1348G>T (p.Glu450Ter) SNV
Germline
Chr5:126550263 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_1749947130

1 SubmittersRCV001039106

NM_001182.5(ALDH7A1):c.1235C>T (p.Thr412Ile) SNV
Germline
Chr5:126552103 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy
Seizure
Criteria Provided
Conflicting Classifications
rs_1471604421

2 SubmittersRCV001036964RCV001095642

NM_001182.5(ALDH7A1):c.1196G>T (p.Gly399Val) SNV
Germline
Chr5:126554291 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_1750101998

1 SubmittersRCV001052728

NM_001182.5(ALDH7A1):c.898A>G (p.Asn300Asp) SNV
Germline
Chr5:126561098 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_1750388096

1 SubmittersRCV001052854

NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val) SNV
Germline
Chr5:126582874 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_375491094

3 SubmittersRCV001050658RCV001268456

NM_001182.5(ALDH7A1):c.365G>A (p.Arg122Gln) SNV
Germline
Chr5:126583960 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_796052256

1 SubmittersRCV001067268

NM_001182.5(ALDH7A1):c.1008+1G>A SNV
Germline
Chr5:126559239 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_1482167835

1 SubmittersRCV001061586

NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu) SNV
Germline
Chr5:126552046 Pathogenic/Likely pathogenic Condition: not provided
Pyridoxine-dependent epilepsy
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
rs_151107837

5 SubmittersRCV001090281RCV001862675RCV002555939

NM_001182.5(ALDH7A1):c.1536C>T (p.Ala512=) SNV
Germline
Chr5:126546353 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy Criteria Provided
Conflicting Classifications
rs_1015790945

2 SubmittersRCV001154337

NM_001182.5(ALDH7A1):c.1415+15A>G SNV
Germline
Chr5:126550181 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy Criteria Provided
Conflicting Classifications
rs_370757950

2 SubmittersRCV001154339

NM_001182.5(ALDH7A1):c.982C>T (p.Gln328Ter) SNV
Germline
Chr5:126559266 Pathogenic Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1750309299

2 SubmittersRCV001172166RCV003631176

NM_001182.5(ALDH7A1):c.1280A>G (p.Glu427Gly) SNV
Germline
Chr5:126552058 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_1311982393

1 SubmittersRCV001214504

NM_001182.5(ALDH7A1):c.902A>G (p.Asn301Ser) SNV
Germline
Chr5:126561094 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy
not specified
Criteria Provided
Conflicting Classifications
rs_121912711

2 SubmittersRCV001226686RCV003323822

NM_001182.5(ALDH7A1):c.313-10C>A SNV
Germline
Chr5:126584022 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_567441242

3 SubmittersRCV001327857RCV001751637

NM_001182.5(ALDH7A1):c.1192G>A (p.Gly398Arg) SNV
Germline
Chr5:126554295 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_1347421419

1 SubmittersRCV001379230

NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys) SNV
Germline
Chr5:126555963 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Multiple Submitters
No Conflicts
rs_1471249688

4 SubmittersRCV001387759

NM_001182.5(ALDH7A1):c.859C>T (p.Gln287Ter) SNV
Germline
Chr5:126568271 Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Multiple Submitters
No Conflicts
rs_1204010423

3 SubmittersRCV001386613

NM_001182.5(ALDH7A1):c.834G>C (p.Val278=) SNV
Germline
Chr5:126568296 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_201948406

1 SubmittersRCV001387187

NM_001182.5(ALDH7A1):c.241C>T (p.Arg81Ter) SNV
Germline
Chr5:126593356 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_757377110

2 SubmittersRCV001385844

NM_001182.5(ALDH7A1):c.130G>T (p.Glu44Ter) SNV
Germline
Chr5:126595069 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_2112820022

1 SubmittersRCV001389875

NM_001182.5(ALDH7A1):c.720C>T (p.Asp240=) SNV
Germline
Chr5:126570835 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy
Condition: not provided
ALDH7A1-related disorder
Criteria Provided
Conflicting Classifications
rs_757704473

4 SubmittersRCV001484628RCV001587431RCV003980418

NM_001182.5(ALDH7A1):c.965C>T (p.Ala322Val) SNV
Germline
Chr5:126559283 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
rs_777483675

2 SubmittersRCV001589813RCV001866134

NM_001182.5(ALDH7A1):c.1200+6G>A SNV
Germline
Chr5:126554281 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
rs_897504760

2 SubmittersRCV001647828RCV002539577

NM_001182.5(ALDH7A1):c.950C>T (p.Ser317Leu) SNV
Germline
Chr5:126559298 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Conflicting Classifications
rs_148052962

2 SubmittersRCV001756549RCV002032769

NM_001182.5(ALDH7A1):c.1192G>C (p.Gly398Arg) SNV
Germline
Chr5:126554295 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_1347421419

1 SubmittersRCV003516978

NM_001182.5(ALDH7A1):c.1483G>A (p.Ala495Thr) SNV
Germline
Chr5:126549935 Pathogenic Condition: not provided
Pyridoxine-dependent epilepsy
Criteria Provided
Single Submitter
rs_1749930972

3 SubmittersRCV001794978RCV003120690

NM_001182.5(ALDH7A1):c.187G>T (p.Gly63Ter) SNV
Germline
Chr5:126595012 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Multiple Submitters
No Conflicts
rs_760636660

3 SubmittersRCV001837054

NM_001182.5(ALDH7A1):c.1318-1G>C SNV
Germline
Chr5:126550294 Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1258470290

2 SubmittersRCV002012989RCV003334063

NM_001182.5(ALDH7A1):c.1072C>T (p.Arg358Ter) SNV
Germline
Chr5:126555952 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Multiple Submitters
No Conflicts
rs_768233031

2 SubmittersRCV001953817

NM_001182.5(ALDH7A1):c.467A>G (p.Tyr156Cys) SNV
Germline
Chr5:126582901 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy
See cases
Criteria Provided
Conflicting Classifications
rs_2112802725

2 SubmittersRCV001977753RCV004584456

NM_001182.5(ALDH7A1):c.841C>T (p.Gln281Ter) SNV
Germline
Chr5:126568289 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_1170817007

1 SubmittersRCV002007248

NM_001182.5(ALDH7A1):c.394-2A>G SNV
Germline
Chr5:126582976 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_1450133957

1 SubmittersRCV002000411

NM_001182.5(ALDH7A1):c.1477G>T (p.Gly493Ter) SNV
Germline
Chr5:126549941 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_767756650

1 SubmittersRCV001953415

NM_001182.5(ALDH7A1):c.973A>G (p.Thr325Ala) SNV
Germline
Chr5:126559275 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_2112768333

1 SubmittersRCV002046836

NM_001182.5(ALDH7A1):c.1088G>A (p.Trp363Ter) SNV
Germline
Chr5:126555936 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_781254582

1 SubmittersRCV001867057

NM_001182.5(ALDH7A1):c.916T>A (p.Phe306Ile) SNV
Germline
Chr5:126559332 Likely pathogenic Pyridoxine-dependent epilepsy No Assertion Criteria Provided
rs_2112768468

1 SubmittersRCV002051594

NM_001182.5(ALDH7A1):c.1111C>T (p.Pro371Ser) SNV
Germline
Chr5:126554376 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy
Developmental and epileptic encephalopathy, 1
Criteria Provided
Conflicting Classifications
rs_1045606047

3 SubmittersRCV002248965RCV002283583

NM_001182.5(ALDH7A1):c.509C>T (p.Pro170Leu) SNV
Germline
Chr5:126582859 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_2112802656

1 SubmittersRCV002249245

NM_001182.5(ALDH7A1):c.393+1G>A SNV
Germline
Chr5:126583931 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter
rs_2112804344

1 SubmittersRCV002273300

NM_001182.5(ALDH7A1):c.1327G>T (p.Glu443Ter) SNV
Germline
Chr5:126550284 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

2 SubmittersRCV002281617

NM_001182.5(ALDH7A1):c.1432T>A (p.Cys478Ser) SNV
Germline
Chr5:126549986 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003037113

NM_001182.5(ALDH7A1):c.1373G>A (p.Ser458Asn) SNV
Germline
Chr5:126550238 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003037114

NM_001182.5(ALDH7A1):c.1216G>A (p.Gly406Arg) SNV
Germline
Chr5:126552122 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003037115

NM_001182.5(ALDH7A1):c.1112C>T (p.Pro371Leu) SNV
Germline
Chr5:126554375 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003037116

NM_001182.5(ALDH7A1):c.517+5G>A SNV
Germline
Chr5:126582846 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003037117

NM_001182.5(ALDH7A1):c.159C>T (p.Gly53=) SNV
Germline
Chr5:126595040 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003037118

NM_001182.5(ALDH7A1):c.921A>G (p.Glu307=) SNV
Germline
Chr5:126559327 Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy Criteria Provided
Conflicting Classifications

2 SubmittersRCV003074153

NM_001182.5(ALDH7A1):c.605G>A (p.Gly202Asp) SNV
Germline
Chr5:126577124 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV002643900

NM_001182.5(ALDH7A1):c.974C>G (p.Thr325Arg) SNV
Germline
Chr5:126559274 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV002785461

NM_001182.5(ALDH7A1):c.1435G>A (p.Gly479Ser) SNV
Germline
Chr5:126549983 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV002847033

NM_001182.5(ALDH7A1):c.312+1G>T SNV
Germline
Chr5:126592663 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002833924

NM_001182.5(ALDH7A1):c.1490-1G>A SNV
Germline
Chr5:126546400 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV002942217

NM_001182.5(ALDH7A1):c.393+2T>G SNV
Germline
Chr5:126583930 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003023220

NM_001182.5(ALDH7A1):c.1171G>T (p.Glu391Ter) SNV
Germline
Chr5:126554316 Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003146843

NM_001182.5(ALDH7A1):c.1408T>G (p.Trp470Gly) SNV
Germline
Chr5:126550203 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003333246

NM_001182.5(ALDH7A1):c.1061A>C (p.Tyr354Ser) SNV
Germline
Chr5:126555963 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003225671

NM_001182.5(ALDH7A1):c.992C>A (p.Thr331Asn) SNV
Germline
Chr5:126559256 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003335823

NM_001182.5(ALDH7A1):c.983A>G (p.Gln328Arg) SNV
Germline
Chr5:126559265 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003517534

NM_001182.5(ALDH7A1):c.1481G>C (p.Gly494Ala) SNV
Germline
Chr5:126549937 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003517567

NM_001182.5(ALDH7A1):c.651-2A>G SNV
Germline
Chr5:126575466 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003518036

NM_001182.5(ALDH7A1):c.427G>C (p.Gly143Arg) SNV
Germline
Chr5:126582941 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003518260

NM_001182.5(ALDH7A1):c.774-2A>G SNV
Germline
Chr5:126568358 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003518587

NM_001182.5(ALDH7A1):c.1553G>C (p.Arg518Thr) SNV
Germline
Chr5:126546336 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003518748

NM_001182.5(ALDH7A1):c.1531G>A (p.Asp511Asn) SNV
Germline
Chr5:126546358 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003518749

NM_001182.5(ALDH7A1):c.871+5G>A SNV
Germline
Chr5:126568254 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003518750

NM_001182.5(ALDH7A1):c.985A>T (p.Arg329Trp) SNV
Germline
Chr5:126559263 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003516972

NM_001182.5(ALDH7A1):c.428G>C (p.Gly143Ala) SNV
Germline
Chr5:126582940 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003517030

NM_001182.5(ALDH7A1):c.872-1G>T SNV
Germline
Chr5:126561125 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003517777

NM_001182.5(ALDH7A1):c.608G>A (p.Trp203Ter) SNV
Germline
Chr5:126577121 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003517772

NM_001182.5(ALDH7A1):c.518-2A>G SNV
Germline
Chr5:126577213 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003631777

NM_001182.5(ALDH7A1):c.986G>C (p.Arg329Thr) SNV
Germline
Chr5:126559262 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003631830

NM_001182.5(ALDH7A1):c.316C>A (p.Pro106Thr) SNV
Germline
Chr5:126584009 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003631717

NM_001182.5(ALDH7A1):c.312+2T>G SNV
Germline
Chr5:126592662 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003631940

NM_001182.5(ALDH7A1):c.1093+2T>C SNV
Germline
Chr5:126555929 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003631999

NM_001182.5(ALDH7A1):c.1200+1G>C SNV
Germline
Chr5:126554286 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003632107

NM_001182.5(ALDH7A1):c.692C>G (p.Thr231Arg) SNV
Germline
Chr5:126575423 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003632380

NM_001182.5(ALDH7A1):c.1192G>T (p.Gly398Trp) SNV
Germline
Chr5:126554295 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003632435

NM_001182.5(ALDH7A1):c.112C>T (p.Gln38Ter) SNV
Germline
Chr5:126595087 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003632627

NM_001182.5(ALDH7A1):c.1344T>A (p.Asn448Lys) SNV
Germline
Chr5:126550267 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003632774

NM_001182.5(ALDH7A1):c.239T>G (p.Val80Gly) SNV
Germline
Chr5:126593358 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003632771

NM_001182.5(ALDH7A1):c.1415+1G>T SNV
Germline
Chr5:126550195 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003827643

NM_001182.5(ALDH7A1):c.696-1G>T SNV
Germline
Chr5:126570860 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003842899

NM_001182.5(ALDH7A1):c.442C>T (p.Gln148Ter) SNV
Germline
Chr5:126582926 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003831347

NM_001182.5(ALDH7A1):c.296G>A (p.Trp99Ter) SNV
Germline
Chr5:126592680 Pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003862714

NM_001182.5(ALDH7A1):c.586T>A (p.Phe196Ile) SNV
Germline
Chr5:126577143 Likely pathogenic Pyridoxine-dependent epilepsy Criteria Provided
Single Submitter

1 SubmittersRCV003988736