Total 50 pathogenic variants reported for Hyperprolinemia type 2 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) SNV
Germline		 Chr1:18877498 Conflicting classifications of pathogenicity Hyperprolinemia type 2 Criteria Provided
Conflicting Classifications
 CA116567 rs_137852937

4 SubmittersRCV000004210
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=) SNV
Germline		 Chr1:18875465 Conflicting classifications of pathogenicity Hyperprolinemia type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA646925 rs_146222625

3 SubmittersRCV000870521RCV005243183
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro) SNV
Germline		 Chr1:18883392 Conflicting classifications of pathogenicity Hyperprolinemia type 2 Criteria Provided
Conflicting Classifications
 CA647339 rs_369957092

3 SubmittersRCV000374270
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=) SNV
Germline		 Chr1:18883154 Conflicting classifications of pathogenicity Condition: not provided
Hyperprolinemia type 2		 Criteria Provided
Conflicting Classifications
 CA647286 rs_139340058

3 SubmittersRCV004597772RCV000865387
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=) SNV
Germline		 Chr1:18877455 Conflicting classifications of pathogenicity Hyperprolinemia type 2 Criteria Provided
Conflicting Classifications
 CA647075 rs_147471420

2 SubmittersRCV000648056
NM_003748.4(ALDH4A1):c.678+3G>A SNV
Germline		 Chr1:18883121 Conflicting classifications of pathogenicity Condition: not provided
Hyperprolinemia type 2
ALDH4A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA647275 rs_138788183

4 SubmittersRCV000555982RCV001089326RCV003920191
NM_003748.4(ALDH4A1):c.421G>A (p.Ala141Thr) SNV
Germline		 Chr1:18885505 Conflicting classifications of pathogenicity Hyperprolinemia type 2 Criteria Provided
Conflicting Classifications
 CA647371 rs_377259750

2 SubmittersRCV000388087
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu) SNV
Germline		 Chr1:18885557 Conflicting classifications of pathogenicity Hyperprolinemia type 2
Intellectual disability
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA647386 rs_147600006

5 SubmittersRCV000343942RCV001252139RCV003409444
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=) SNV
Germline		 Chr1:18890033 Conflicting classifications of pathogenicity Hyperprolinemia type 2 Criteria Provided
Conflicting Classifications
 CA647478 rs_147154947

2 SubmittersRCV000875050
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=) SNV
Germline		 Chr1:18890066 Conflicting classifications of pathogenicity Hyperprolinemia type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA647488 rs_148778436

3 SubmittersRCV000290192RCV003409445
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) SNV
Germline		 Chr1:18876392 Conflicting classifications of pathogenicity ALDH4A1-related disorder
Condition: not provided
Hyperprolinemia type 2		 Criteria Provided
Conflicting Classifications
 CA646978 rs_149414160

6 SubmittersRCV003967830RCV000513466RCV001088652
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=) SNV
Germline		 Chr1:18877467 Conflicting classifications of pathogenicity Hyperprolinemia type 2 Criteria Provided
Conflicting Classifications
 CA10609196 rs_41310410

2 SubmittersRCV000399137
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg) SNV
Germline		 Chr1:18877480 Conflicting classifications of pathogenicity Hyperprolinemia type 2
ALDH4A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA647085 rs_145243354

3 SubmittersRCV000877952RCV003920190
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu) SNV
Germline		 Chr1:18885513 Conflicting classifications of pathogenicity Hyperprolinemia type 2
ALDH4A1-related disorder
Condition: not provided
Intellectual disability		 Criteria Provided
Conflicting Classifications
 CA647374 rs_139640415

5 SubmittersRCV000648055RCV003920192RCV003409443RCV001252138
NM_003748.4(ALDH4A1):c.866+1G>A SNV
Germline		 Chr1:18881699 Pathogenic/Likely pathogenic Hyperprolinemia type 2 Criteria Provided
Multiple Submitters
No Conflicts
 CA647184 rs_78532707

4 SubmittersRCV000505674
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) SNV
Germline		 Chr1:18872954 Conflicting classifications of pathogenicity Hyperprolinemia type 2 Criteria Provided
Conflicting Classifications
 CA646818 rs_61757683

2 SubmittersRCV000552519
NM_003748.4(ALDH4A1):c.298-1G>C SNV
Germline		 Chr1:18885629 Likely pathogenic Hyperprolinemia type 2 Criteria Provided
Single Submitter
 CA338761435 rs_1557620472

1 SubmittersRCV000692385
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=) SNV
Germline		 Chr1:18876435 Conflicting classifications of pathogenicity Hyperprolinemia type 2 Criteria Provided
Conflicting Classifications
 CA646999 rs_111291014

2 SubmittersRCV000871109
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met) SNV
Germline		 Chr1:18889367 Conflicting classifications of pathogenicity Hyperprolinemia type 2
not specified		 Criteria Provided
Conflicting Classifications
 CA647450 rs_76762510

3 SubmittersRCV000864659RCV004702483
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=) SNV
Germline		 Chr1:18889383 Conflicting classifications of pathogenicity Hyperprolinemia type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA647452 rs_145686117

3 SubmittersRCV000865090RCV003884757
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg) SNV
Germline		 Chr1:18877457 Conflicting classifications of pathogenicity Hyperprolinemia type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA647076 rs_41306567

3 SubmittersRCV000871988RCV003411857
NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=) SNV
Germline		 Chr1:18879364 Conflicting classifications of pathogenicity Hyperprolinemia type 2 Criteria Provided
Conflicting Classifications
 CA647167 rs_775591571

2 SubmittersRCV001100733
NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu) SNV
Germline		 Chr1:18881826 Conflicting classifications of pathogenicity Hyperprolinemia type 2
not specified
Condition: not provided
ALDH4A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA647213 rs_558761793

6 SubmittersRCV001100734RCV004032070RCV003405308RCV003973062
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=) SNV
Germline		 Chr1:18890018 Conflicting classifications of pathogenicity Hyperprolinemia type 2 Criteria Provided
Conflicting Classifications
 CA647473 rs_201605414

2 SubmittersRCV001099014
NM_003748.4(ALDH4A1):c.1460+15C>T SNV
Germline		 Chr1:18875367 Conflicting classifications of pathogenicity Hyperprolinemia type 2
not specified		 Criteria Provided
Conflicting Classifications
 CA646900 rs_371777923

3 SubmittersRCV001100633RCV003987783
NM_003748.4(ALDH4A1):c.1185+10G>A SNV
Germline		 Chr1:18877198 Conflicting classifications of pathogenicity Hyperprolinemia type 2 Criteria Provided
Conflicting Classifications
 CA647028 rs_201079601

2 SubmittersRCV001097174
NM_003748.4(ALDH4A1):c.298-14C>T SNV
Germline		 Chr1:18885642 Conflicting classifications of pathogenicity Hyperprolinemia type 2 Criteria Provided
Conflicting Classifications
 CA647405 rs_201072479

2 SubmittersRCV001097261
NM_003748.4(ALDH4A1):c.139C>T (p.Arg47Ter) SNV
Germline		 Chr1:18890029 Pathogenic/Likely pathogenic Hyperprolinemia type 2 Criteria Provided
Multiple Submitters
No Conflicts
 CA647477 rs_756807746

2 SubmittersRCV001808041
NM_003748.4(ALDH4A1):c.361A>G (p.Ile121Val) SNV
Germline		 Chr1:18885565 Conflicting classifications of pathogenicity Hyperprolinemia type 2
not specified		 Criteria Provided
Conflicting Classifications
 CA647388 rs_779876883

2 SubmittersRCV002009462RCV004046210
NM_003748.4(ALDH4A1):c.240C>G (p.Tyr80Ter) SNV
Germline		 Chr1:18889371 Likely pathogenic Hyperprolinemia type 2 Criteria Provided
Single Submitter
 CA338764380 rs_2522617063

1 SubmittersRCV003389279
NM_003748.4(ALDH4A1):c.1A>G (p.Met1Val) SNV
Germline		 Chr1:18902523 Conflicting classifications of pathogenicity Hyperprolinemia type 2 Criteria Provided
Conflicting Classifications
 CA338770020 rs_2522672708

2 SubmittersRCV003610648
NM_003748.4(ALDH4A1):c.1580-2A>G SNV
Germline		 Chr1:18872959 Likely pathogenic Hyperprolinemia type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005009178
NM_003748.4(ALDH4A1):c.1333A>T (p.Lys445Ter) SNV
Germline		 Chr1:18876320 Likely pathogenic Hyperprolinemia type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005009192
NM_003748.4(ALDH4A1):c.453+1G>A SNV
Germline		 Chr1:18885472 Likely pathogenic Hyperprolinemia type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005009223
NM_003748.4(ALDH4A1):c.250-2A>G SNV
Germline		 Chr1:18886513 Likely pathogenic Hyperprolinemia type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005009230
NM_003748.4(ALDH4A1):c.451C>T (p.Gln151Ter) SNV
Germline		 Chr1:18885475 Pathogenic Hyperprolinemia type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005111400
NM_003748.4(ALDH4A1):c.1461-2A>G SNV
Germline		 Chr1:18874583 Likely pathogenic Hyperprolinemia type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005133978