Total 40 pathogenic variants reported for Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001195248.2(APTX):c.617C>T (p.Pro206Leu) SNV
Germline		 Chr9:32984784 Pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia No Assertion Criteria Provided
 CA253142 rs_121908131

1 SubmittersRCV000004676
NM_001195248.2(APTX):c.788T>G (p.Val263Gly) SNV
Germline		 Chr9:32974544 Pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia No Assertion Criteria Provided
 CA253146 rs_121908132

1 SubmittersRCV000004678
NM_001195248.2(APTX):c.602A>G (p.His201Arg) SNV
Germline		 Chr9:32984799 Pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia No Assertion Criteria Provided
 CA253149 rs_121908133

1 SubmittersRCV000004679
NM_001195248.2(APTX):c.875-1G>A SNV
Germline		 Chr9:32973653 Pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia No Assertion Criteria Provided
 CA373173881 rs_1587330671

1 SubmittersRCV000004680
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) SNV
Germline		 Chr9:32974495 Pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Condition: not provided
Inborn genetic diseases
APTX-related disorder
Hereditary ataxia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA253152 rs_104894103

20 SubmittersRCV000004681RCV000197775RCV002512761RCV004757946RCV005624671
NM_001195248.2(APTX):c.668T>C (p.Leu223Pro) SNV
Germline		 Chr9:32984733 Likely pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Criteria Provided
Single Submitter
 CA253155 rs_267606665

2 SubmittersRCV000004683
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) SNV
Germline		 Chr9:32973556 Conflicting classifications of pathogenicity not specified
Condition: not provided
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
APTX-related disorder		 Criteria Provided
Conflicting Classifications
 CA289505 rs_141493373

12 SubmittersRCV000123682RCV000513413RCV000612640RCV003905189
NM_001195248.2(APTX):c.742T>A (p.Leu248Met) SNV
Germline		 Chr9:32984659 Conflicting classifications of pathogenicity Condition: not provided
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA321194 rs_141195622

11 SubmittersRCV000710078RCV001165622RCV004020389RCV004998402
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) SNV
Germline		 Chr9:32989874 Conflicting classifications of pathogenicity Condition: not provided
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA324705 rs_144076460

10 SubmittersRCV000200146RCV000357224RCV002517195RCV004782302
NM_001195248.2(APTX):c.513G>A (p.Leu171=) SNV
Germline		 Chr9:32986001 Conflicting classifications of pathogenicity not specified
Condition: not provided
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		 Criteria Provided
Conflicting Classifications
 CA5022389 rs_140888559

7 SubmittersRCV000242502RCV000755827RCV001165625
NM_001195248.2(APTX):c.134-12A>C SNV
Germline		 Chr9:32988141 Conflicting classifications of pathogenicity Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5022603 rs_113391831

3 SubmittersRCV000305808RCV000614999RCV002058798
NM_001195248.2(APTX):c.544-4C>T SNV
Germline		 Chr9:32984861 Conflicting classifications of pathogenicity Condition: not provided
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
APTX-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA5022369 rs_201736194

6 SubmittersRCV000929987RCV001165624RCV003912646RCV005434910
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) SNV
Germline		 Chr9:32989768 Pathogenic/Likely pathogenic Condition: not provided
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5022652 rs_201912053

6 SubmittersRCV000480449RCV000616687
NM_001195248.2(APTX):c.697A>T (p.Lys233Ter) SNV
Germline		 Chr9:32984704 Pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia No Assertion Criteria Provided
 CA373177064 rs_1114167423

1 SubmittersRCV000490800
NM_001195248.2(APTX):c.875-2A>G SNV
Germline		 Chr9:32973654 Pathogenic/Likely pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Criteria Provided
Multiple Submitters
No Conflicts
 CA192395124 rs_904293109

2 SubmittersRCV000501832
NM_001195248.2(APTX):c.770+10G>T SNV
Germline		 Chr9:32984621 Conflicting classifications of pathogenicity not specified
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5022328 rs_111392103

3 SubmittersRCV000517095RCV001165621RCV002060231
NM_001195248.2(APTX):c.618G>T (p.Pro206=) SNV
Germline		 Chr9:32984783 Conflicting classifications of pathogenicity Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5022357 rs_140355580

3 SubmittersRCV001165623RCV001719086
NM_001195248.2(APTX):c.-45C>G SNV
Germline		 Chr9:33001607 Conflicting classifications of pathogenicity not specified
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
APTX-related disorder		 Criteria Provided
Conflicting Classifications
 CA5022777 rs_371868908

3 SubmittersRCV000601159RCV001167792RCV003945545
NM_001195248.2(APTX):c.484-1G>T SNV
Germline		 Chr9:32986031 Pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Criteria Provided
Single Submitter
 CA373179196 rs_1563963464

1 SubmittersRCV000785175
NM_001195248.2(APTX):c.771-5A>G SNV
Germline		 Chr9:32974566 Conflicting classifications of pathogenicity Condition: not provided
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Hepatocellular carcinoma		 Criteria Provided
Conflicting Classifications
 CA5022307 rs_751250105

4 SubmittersRCV000925927RCV001169599RCV005903143
NM_001195248.2(APTX):c.-5+1G>T SNV
Germline		 Chr9:33001566 Conflicting classifications of pathogenicity Condition: not provided
not specified
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Thymoma
Colon adenocarcinoma		 Criteria Provided
Conflicting Classifications
 CA5022760 rs_146487634

4 SubmittersRCV000999150RCV003396584RCV003989615RCV005912273RCV005912272
NM_001195248.2(APTX):c.46C>T (p.Arg16Ter) SNV
Germline		 Chr9:32989846 Pathogenic/Likely pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA373181237 rs_1015321377

3 SubmittersRCV001195418RCV002560200
NM_001195248.2(APTX):c.593C>T (p.Ala198Val) SNV
Germline		 Chr9:32984808 Likely pathogenic Condition: not provided
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5022363 rs_748165574

3 SubmittersRCV001288442RCV001814301
NM_001195248.2(APTX):c.544-1G>C SNV
Unknown		 Chr9:32984858 Pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Criteria Provided
Single Submitter
 CA373177955 rs_2118688818

1 SubmittersRCV001647163
NM_001195248.2(APTX):c.388C>T (p.Gln130Ter) SNV
Germline		 Chr9:32987639 Pathogenic/Likely pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA373179759 rs_1225927323

2 SubmittersRCV001807978RCV001869577
NM_001195248.2(APTX):c.484-1G>C SNV
Germline		 Chr9:32986031 Likely pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Criteria Provided
Single Submitter
 CA373179197 rs_1563963464

1 SubmittersRCV003990512
NM_001195248.2(APTX):c.603T>A (p.His201Gln) SNV
Germline		 Chr9:32984798 Likely pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Criteria Provided
Single Submitter

1 SubmittersRCV005410100
NM_001195248.2(APTX):c.601C>T (p.His201Tyr) SNV
Germline		 Chr9:32984800 Likely pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Criteria Provided
Single Submitter

1 SubmittersRCV006258342