Total 85 pathogenic variants reported for Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys) SNV
Germline		 Chr13:40807379 Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA312984 rs_104894424

5 SubmittersRCV000006359RCV000514789
NM_014252.4(SLC25A15):c.535C>T (p.Arg179Ter) SNV
Germline		 Chr13:40807376 Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
SLC25A15-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340488 rs_104894429

6 SubmittersRCV000006360RCV003415665
NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg) SNV
Germline		 Chr13:40799080 Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA340490 rs_104894430

5 SubmittersRCV000006361
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln) SNV
Germline		 Chr13:40809585 Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter
 CA340491 rs_104894431

3 SubmittersRCV000006362
NM_014252.4(SLC25A15):c.110T>G (p.Met37Arg) SNV
Germline		 Chr13:40799111 Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome No Assertion Criteria Provided
 CA340492 rs_121908533

1 SubmittersRCV000006363
NM_014252.4(SLC25A15):c.212T>A (p.Leu71Gln) SNV
Germline		 Chr13:40799213 Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter
 CA340493 rs_121908534

2 SubmittersRCV000006364
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile) SNV
Germline		 Chr13:40809576 Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA340494 rs_121908535

3 SubmittersRCV000006365
NM_014252.4(SLC25A15):c.95C>G (p.Thr32Arg) SNV
Germline		 Chr13:40799096 Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA340495 rs_121908536

4 SubmittersRCV000006366
NM_014252.4(SLC25A15):c.337G>T (p.Gly113Cys) SNV
Germline		 Chr13:40805140 Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA343038 rs_199894905

2 SubmittersRCV001235689
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu) SNV
Germline		 Chr13:40807405 Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA343041 rs_141028076

4 SubmittersRCV000031951
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg) SNV
Germline		 Chr13:40808473 Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA343043 rs_202247805

3 SubmittersRCV000031953
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter) SNV
Germline		 Chr13:40809584 Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA343046 rs_202247807

5 SubmittersRCV000031955
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) SNV
Germline		 Chr13:40799183 Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Condition: not provided
Intellectual disability
SLC25A15-related disorder		 Criteria Provided
Conflicting Classifications
 CA312980 rs_34615430

9 SubmittersRCV000401214RCV000726011RCV001251645RCV003907650
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=) SNV
Germline		 Chr13:40799226 Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA6959650 rs_765380976

4 SubmittersRCV000301414RCV000616579
NM_014252.3(SLC25A15):c.-273C>G SNV
Germline		 Chr13:40789460 Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10639577 rs_541415883

3 SubmittersRCV000290397RCV002251464
NM_014252.4(SLC25A15):c.565G>A (p.Gly189Ser) SNV
Germline		 Chr13:40807406 Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Condition: not provided
Inborn genetic diseases
SLC25A15-related disorder		 Criteria Provided
Conflicting Classifications
 CA6959761 rs_151239794

5 SubmittersRCV000327082RCV001545717RCV002520886RCV003940206
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=) SNV
Germline		 Chr13:40805148 Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Conflicting Classifications
 CA6959703 rs_35434090

3 SubmittersRCV000371389
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln) SNV
Germline		 Chr13:40799279 Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Conflicting Classifications
 CA6959664 rs_369201060

3 SubmittersRCV000367821
NM_014252.4(SLC25A15):c.177C>A (p.Gly59=) SNV
Germline		 Chr13:40799178 Conflicting classifications of pathogenicity Condition: not provided
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome		 Criteria Provided
Conflicting Classifications
 CA16043748 rs_1057519112

2 SubmittersRCV000415773RCV001428336
NM_014252.4(SLC25A15):c.564C>T (p.Phe188=) SNV
Germline		 Chr13:40807405 Conflicting classifications of pathogenicity not specified
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome		 Criteria Provided
Conflicting Classifications
 CA6959760 rs_141028076

3 SubmittersRCV000434750RCV000946208
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) SNV
Germline		 Chr13:40808521 Conflicting classifications of pathogenicity Condition: not provided
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6959807 rs_142236568

8 SubmittersRCV000498164RCV001086827RCV002265783RCV004023330
NM_014252.4(SLC25A15):c.22C>T (p.Gln8Ter) SNV
Germline		 Chr13:40793248 Pathogenic Condition: not provided
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hereditary breast ovarian cancer syndrome
Cardiac arrhythmia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387916252 rs_1448259297

4 SubmittersRCV000579310RCV001382896RCV004543282RCV004526708
NM_014252.4(SLC25A15):c.55+6G>C SNV
Germline		 Chr13:40793287 Conflicting classifications of pathogenicity not specified
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
SLC25A15-related disorder		 Criteria Provided
Conflicting Classifications
 CA6959595 rs_200219313

3 SubmittersRCV000602038RCV001069032RCV003905601
NM_014252.4(SLC25A15):c.388G>A (p.Val130Met) SNV
Germline		 Chr13:40805191 Conflicting classifications of pathogenicity Intellectual disability
Abnormal facial shape
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome		 Criteria Provided
Conflicting Classifications
 rs_553432772

3 SubmittersRCV000758010RCV000931063
NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter) SNV
Germline		 Chr13:40807355 Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_1480063127

2 SubmittersRCV000812857
NM_014252.4(SLC25A15):c.521C>A (p.Ser174Ter) SNV
Germline		 Chr13:40807362 Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter
 rs_200873328

1 SubmittersRCV000806204
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu) SNV
Germline		 Chr13:40799148 Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_187685447

4 SubmittersRCV000877375RCV001356738
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=) SNV
Germline		 Chr13:40799217 Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Conflicting Classifications
 rs_572717478

3 SubmittersRCV000915908
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=) SNV
Germline		 Chr13:40799256 Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Conflicting Classifications
 rs_536354947

3 SubmittersRCV000918604
NM_014252.4(SLC25A15):c.452+2T>C SNV
Germline		 Chr13:40805257 Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_1882127556

2 SubmittersRCV001070913
NM_014252.4(SLC25A15):c.45G>A (p.Ala15=) SNV
Germline		 Chr13:40793271 Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Conflicting Classifications
 rs_200958757

2 SubmittersRCV001109117
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser) SNV
Germline		 Chr13:40805140 Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_199894905

5 SubmittersRCV001113456RCV001570454RCV002555095
NM_014252.4(SLC25A15):c.778G>T (p.Glu260Ter) SNV
Germline		 Chr13:40808593 Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter
 rs_1882296594

1 SubmittersRCV001224690
NM_014252.4(SLC25A15):c.44C>T (p.Ala15Val) SNV
Germline		 Chr13:40793270 Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter
 rs_202247806

1 SubmittersRCV001250167
NM_014252.4(SLC25A15):c.622+1G>A SNV
Germline		 Chr13:40807464 Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_957788324

2 SubmittersRCV001378384
NM_014252.4(SLC25A15):c.672G>A (p.Trp224Ter) SNV
Germline		 Chr13:40808487 Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter
 rs_1593295876

1 SubmittersRCV001384113
NM_014252.4(SLC25A15):c.338G>T (p.Gly113Val) SNV
Germline		 Chr13:40805141 Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter
 rs_2138054088

1 SubmittersRCV001959586
NM_014252.4(SLC25A15):c.236C>G (p.Ser79Ter) SNV
Germline		 Chr13:40799237 Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_2138045987

2 SubmittersRCV001898279
NM_014252.4(SLC25A15):c.315-1G>A SNV
Germline		 Chr13:40805117 Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter
 rs_2138053997

1 SubmittersRCV002045445
NM_014252.4(SLC25A15):c.781+1G>A SNV
Germline		 Chr13:40808597 Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
SLC25A15-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003041189RCV003404032
NM_014252.4(SLC25A15):c.403C>T (p.Gln135Ter) SNV
Germline		 Chr13:40805206 Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003054285
NM_014252.4(SLC25A15):c.315-2A>C SNV
Unknown		 Chr13:40805116 Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003472830
NM_014252.4(SLC25A15):c.530T>A (p.Leu177Ter) SNV
Unknown		 Chr13:40807371 Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003472834
NM_014252.4(SLC25A15):c.265C>T (p.Gln89Ter) SNV
Unknown		 Chr13:40799266 Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003472835
NM_014252.4(SLC25A15):c.169C>T (p.Gln57Ter) SNV
Unknown		 Chr13:40799170 Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003472836
NM_014252.4(SLC25A15):c.112C>T (p.Gln38Ter) SNV
Germline		 Chr13:40799113 Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003504731
NM_014252.4(SLC25A15):c.56-1G>A SNV
Germline		 Chr13:40799056 Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003505618
NM_014252.4(SLC25A15):c.781+2T>A SNV
Germline		 Chr13:40808598 Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003616841
NM_014252.4(SLC25A15):c.453-2A>C SNV
Germline		 Chr13:40807292 Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003615700
NM_014252.4(SLC25A15):c.1A>G (p.Met1Val) SNV
Germline		 Chr13:40793227 Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003882005
NM_014252.4(SLC25A15):c.782-2A>G SNV
Unknown		 Chr13:40809541 Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004573613
NM_014252.4(SLC25A15):c.623-1G>A SNV
Unknown		 Chr13:40808437 Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004573615