Total 49 pathogenic variants reported for Pontocerebellar hypoplasia type 9 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001368809.2(AMPD2):c.2172G>C (p.Glu724Asp) SNV
Germline		 Chr1:109630697 Pathogenic Pontocerebellar hypoplasia type 9
Pontoneocerebellar hypoplasia		 Criteria Provided
Single Submitter
 CA156214 rs_587777392

2 SubmittersRCV000119279RCV006456713
NM_001368809.2(AMPD2):c.885C>A (p.Tyr295Ter) SNV
Germline		 Chr1:109627453 Pathogenic Pontocerebellar hypoplasia type 9 No Assertion Criteria Provided
 CA156215 rs_587777393

1 SubmittersRCV000119280
NM_001368809.2(AMPD2):c.2215G>T (p.Asp739Tyr) SNV
Germline		 Chr1:109630740 Pathogenic Pontocerebellar hypoplasia type 9 No Assertion Criteria Provided
 CA156217 rs_587777394

1 SubmittersRCV000119281
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His) SNV
Germline		 Chr1:109629487 Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 9
Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
Hereditary spastic paraplegia 63
Pontoneocerebellar hypoplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA156218 rs_587777395

6 SubmittersRCV000119282RCV002515805RCV003343648RCV005431474
NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln) SNV
Germline		 Chr1:109628692 Conflicting classifications of pathogenicity Global developmental delay
Brain malformation
Seizure
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Pontocerebellar hypoplasia type 9		 Criteria Provided
Conflicting Classifications
 CA249914 rs_192669225

2 SubmittersRCV000162110RCV002515123RCV003984820
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=) SNV
Germline		 Chr1:109628244 Conflicting classifications of pathogenicity not specified
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA205620 rs_114727970

4 SubmittersRCV000192657RCV000548443RCV001725137
NM_001368809.2(AMPD2):c.2094C>G (p.Tyr698Ter) SNV
Germline		 Chr1:109630343 Pathogenic Pontocerebellar hypoplasia type 9 No Assertion Criteria Provided
 CA10576093 rs_875989844

1 SubmittersRCV000211051
NM_001368809.2(AMPD2):c.1081-8C>A SNV
Germline		 Chr1:109628075 Conflicting classifications of pathogenicity Condition: not provided
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA993026 rs_145268448

3 SubmittersRCV000224507RCV001399673RCV005895102
NM_001368809.2(AMPD2):c.589C>T (p.Arg197Trp) SNV
Germline		 Chr1:109626783 Conflicting classifications of pathogenicity Condition: not provided
Pontocerebellar hypoplasia type 9		 Criteria Provided
Conflicting Classifications
 CA992849 rs_755344801

2 SubmittersRCV000316938RCV005864469
NM_001368809.2(AMPD2):c.1407+3A>G SNV
Germline		 Chr1:109628498 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
AMPD2-related disorder		 Criteria Provided
Conflicting Classifications
 CA993087 rs_41280332

6 SubmittersRCV000502839RCV000513569RCV001083524RCV003932809
NM_001368809.2(AMPD2):c.2165T>G (p.Leu722Arg) SNV
Germline		 Chr1:109630690 Pathogenic Pontocerebellar hypoplasia type 9 Criteria Provided
Single Submitter
 CA341562786 rs_1553230375

1 SubmittersRCV000578379
NM_001368809.2(AMPD2):c.971G>T (p.Arg324Leu) SNV
Germline		 Chr1:109627794 Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA341557548 rs_746332433

4 SubmittersRCV000692141RCV004586881RCV004760714RCV006302197
NM_001368809.2(AMPD2):c.520G>T (p.Glu174Ter) SNV
Germline		 Chr1:109626416 Pathogenic/Likely pathogenic Condition: not provided
Pontocerebellar hypoplasia type 9
Pontoneocerebellar hypoplasia
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9		 Criteria Provided
Multiple Submitters
No Conflicts
 CA992820 rs_753591864

5 SubmittersRCV000760709RCV001784371RCV005056507RCV006556620
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter) SNV
Germline		 Chr1:109628433 Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 9
Condition: not provided
Pontoneocerebellar hypoplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA993080 rs_760433806

6 SubmittersRCV001004867RCV002279706RCV003987758
NM_001368809.2(AMPD2):c.2039C>T (p.Pro680Leu) SNV
Germline		 Chr1:109630288 Conflicting classifications of pathogenicity Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Condition: not provided
Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63		 Criteria Provided
Conflicting Classifications
 CA993269 rs_761542502

4 SubmittersRCV001234925RCV003318673RCV003346399RCV003346398
NM_001368809.2(AMPD2):c.1198C>T (p.Gln400Ter) SNV
Unknown		 Chr1:109628200 Pathogenic Pontocerebellar hypoplasia type 9 Criteria Provided
Single Submitter
 CA28695641 rs_1011286644

1 SubmittersRCV001251496
NM_001368809.2(AMPD2):c.247G>T (p.Glu83Ter) SNV
Germline		 Chr1:109625686 Pathogenic Pontocerebellar hypoplasia type 9 Criteria Provided
Single Submitter
 CA341554130 rs_2101154713

1 SubmittersRCV001420164
NM_001368809.2(AMPD2):c.1859G>T (p.Arg620Leu) SNV
Germline		 Chr1:109629487 Likely pathogenic Pontocerebellar hypoplasia type 9 Criteria Provided
Single Submitter
 CA993200 rs_587777395

1 SubmittersRCV001420165
NM_001368809.2(AMPD2):c.2366G>A (p.Arg789His) SNV
Germline		 Chr1:109631040 Likely pathogenic Pontocerebellar hypoplasia type 9 Criteria Provided
Single Submitter
 CA993390 rs_774256040

1 SubmittersRCV001785327
NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp) SNV
Germline		 Chr1:109627793 Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
not specified		 Criteria Provided
Conflicting Classifications
 CA992989 rs_776868175

3 SubmittersRCV001806390RCV002542417RCV004770209
NM_001368809.2(AMPD2):c.895C>T (p.Gln299Ter) SNV
Germline		 Chr1:109627463 Pathogenic Pontocerebellar hypoplasia type 9 No Assertion Criteria Provided
 CA341557325 rs_1329101309

1 SubmittersRCV001824272
NM_001368809.2(AMPD2):c.1698+1G>A SNV
Germline		 Chr1:109629236 Pathogenic/Likely pathogenic Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341559668 rs_1650988132

2 SubmittersRCV002040456RCV006302552
NM_001368809.2(AMPD2):c.223-5C>A SNV
Germline		 Chr1:109625657 Conflicting classifications of pathogenicity Inborn genetic diseases
Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63		 Criteria Provided
Conflicting Classifications
 CA992733 rs_764953041

2 SubmittersRCV003025498RCV002183239
NM_001368809.2(AMPD2):c.1057C>T (p.Arg353Ter) SNV
Germline		 Chr1:109627880 Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 9
Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA28695246 rs_150197784

3 SubmittersRCV002283614RCV003774934RCV006435269
NM_001368809.2(AMPD2):c.-45C>T SNV
Germline		 Chr1:109621131 Conflicting classifications of pathogenicity Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA28686341 rs_1030974786

2 SubmittersRCV003068942RCV004071618
NM_001368809.2(AMPD2):c.319C>T (p.Gln107Ter) SNV
Germline		 Chr1:109625758 Pathogenic Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9		 Criteria Provided
Single Submitter
 CA341554493 rs_2524398223

1 SubmittersRCV002820600
NM_001368809.2(AMPD2):c.1858C>A (p.Arg620Ser) SNV
Germline		 Chr1:109629486 Likely pathogenic Pontocerebellar hypoplasia type 9 Criteria Provided
Single Submitter
 CA341561829 rs_756745194

1 SubmittersRCV003229780
NM_001368809.2(AMPD2):c.2185G>C (p.Ala729Pro) SNV
Germline		 Chr1:109630710 Likely pathogenic Pontocerebellar hypoplasia type 9 Criteria Provided
Single Submitter

1 SubmittersRCV004821101
NM_001368809.2(AMPD2):c.1782G>A (p.Trp594Ter) SNV
Germline		 Chr1:109629410 Likely pathogenic Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9		 Criteria Provided
Single Submitter

1 SubmittersRCV005006767
NM_001368809.2(AMPD2):c.1984-2A>G SNV
Germline		 Chr1:109630231 Likely pathogenic Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9		 Criteria Provided
Single Submitter

1 SubmittersRCV005006793
NM_001368809.2(AMPD2):c.91+1G>T SNV
Germline		 Chr1:109621267 Likely pathogenic Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9		 Criteria Provided
Single Submitter

1 SubmittersRCV005006698
NM_001368809.2(AMPD2):c.861-2A>G SNV
Germline		 Chr1:109627427 Likely pathogenic Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9		 Criteria Provided
Single Submitter

1 SubmittersRCV005211309
NM_001368809.2(AMPD2):c.1983+1G>A SNV
Unknown		 Chr1:109629917 Likely pathogenic Pontocerebellar hypoplasia type 9 Criteria Provided
Single Submitter

1 SubmittersRCV006450790
NM_001368809.2(AMPD2):c.2007C>A (p.Tyr669Ter) SNV
Germline		 Chr1:109630256 Pathogenic Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63		 Criteria Provided
Single Submitter

1 SubmittersRCV006598718
NM_001368809.2(AMPD2):c.1080+2T>G SNV
Germline		 Chr1:109627905 Likely pathogenic Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63		 Criteria Provided
Single Submitter

1 SubmittersRCV006596383