Total 134 pathogenic variants reported for Pontocerebellar hypoplasia type 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) SNV
Germline		 Chr14:96876033 Pathogenic Pontocerebellar hypoplasia type 1A
Inborn genetic diseases
Condition: not provided
Congenital pontocerebellar hypoplasia type 1
Abnormality of the musculature
Neuronopathy, distal hereditary motor, autosomal recessive 10		 Criteria Provided
Multiple Submitters
No Conflicts
 CA248458 rs_137853063

12 SubmittersRCV000007926RCV000210656RCV000523082RCV000690009RCV001836703RCV003387437
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) SNV
Germline		 Chr9:37783993 Pathogenic Pontocerebellar hypoplasia type 1B
Inborn genetic diseases
Condition: not provided
Hypotonia
Abnormality of the nervous system
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA204654 rs_141138948

35 SubmittersRCV000024366RCV000190687RCV000224817RCV000761614RCV001836713RCV003156064
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) SNV
Germline		 Chr9:37784953 Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1B
7 conditions
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342800 rs_387907196

20 SubmittersRCV000024369RCV000853550RCV001092265
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg) SNV
Germline		 Chr9:37780795 Likely pathogenic Pontocerebellar hypoplasia type 1B Criteria Provided
Single Submitter
 CA260047 rs_672601332

2 SubmittersRCV000024370
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) SNV
Germline		 Chr9:37784807 Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1B
Pontoneocerebellar hypoplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA345539 rs_374550999

9 SubmittersRCV000117005RCV000825519RCV001200535
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) SNV
Germline		 Chr14:96856555 Conflicting classifications of pathogenicity Condition: not provided
Pontocerebellar hypoplasia type 1A
Congenital pontocerebellar hypoplasia type 1
Inborn genetic diseases
Distal spinal muscular atrophy
not specified
VRK1-related disorder		 Criteria Provided
Conflicting Classifications
 CA231650 rs_139476915

14 SubmittersRCV000118846RCV000322092RCV000559445RCV002444574RCV002227063RCV003488393RCV003952580
NM_006831.3(CLP1):c.419G>A (p.Arg140His) SNV
Germline		 Chr11:57659895 Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 10
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA333293 rs_587777616

8 SubmittersRCV000133463RCV000658593
NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys) SNV
Germline		 Chr9:37782041 Pathogenic Pontocerebellar hypoplasia type 1B No Assertion Criteria Provided
 CA273761 rs_730882145

1 SubmittersRCV000161917
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) SNV
Germline		 Chr14:96846144 Conflicting classifications of pathogenicity Condition: not provided
Pontocerebellar hypoplasia type 1A
Inborn genetic diseases
Neuronopathy, distal hereditary motor, autosomal recessive 10		 Criteria Provided
Conflicting Classifications
 CA245220 rs_773138218

7 SubmittersRCV000178190RCV000203270RCV000624198RCV003387512
NM_003384.3(VRK1):c.356A>G (p.His119Arg) SNV
Germline		 Chr14:96847326 Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1A
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA250404 rs_371295780

4 SubmittersRCV000191143RCV000523462
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) SNV
Germline		 Chr14:96860628 Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A
Juvenile amyotrophic lateral sclerosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA250406 rs_772731615

5 SubmittersRCV000191144RCV001095537RCV001705076
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) SNV
Germline		 Chr9:37782040 Conflicting classifications of pathogenicity not specified
Pontocerebellar hypoplasia type 1B
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA205371 rs_797045567

5 SubmittersRCV000192511RCV000625808RCV003992226
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile) SNV
Germline		 Chr9:37784852 Conflicting classifications of pathogenicity not specified
Pontocerebellar hypoplasia type 1B
Condition: not provided
Inborn genetic diseases
EXOSC3-related disorder		 Criteria Provided
Conflicting Classifications
 CA205604 rs_62640002

6 SubmittersRCV000192646RCV000865460RCV001545046RCV004020316RCV003955150
NM_003384.3(VRK1):c.706G>A (p.Val236Met) SNV
Germline		 Chr14:96855353 Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A
Inborn genetic diseases
Neuronopathy, distal hereditary motor, autosomal recessive 10
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA339651 rs_771364038

7 SubmittersRCV000203265RCV002517363RCV003387514RCV003441782
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala) SNV
Germline		 Chr14:96837776 Conflicting classifications of pathogenicity Condition: not provided
Pontocerebellar hypoplasia type 1A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7338879 rs_61736727

5 SubmittersRCV000319758RCV001272568RCV002411141
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys) SNV
Germline		 Chr14:96856579 Conflicting classifications of pathogenicity Condition: not provided
Pontocerebellar hypoplasia type 1A
Congenital pontocerebellar hypoplasia type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7339107 rs_541660707

5 SubmittersRCV000289205RCV000358150RCV000823345RCV002374471
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) SNV
Germline		 Chr9:37784879 Conflicting classifications of pathogenicity not specified
Pontocerebellar hypoplasia type 1B
Inborn genetic diseases
EXOSC3-related disorder		 Criteria Provided
Conflicting Classifications
 CA5062844 rs_148348866

6 SubmittersRCV000418914RCV000874627RCV002523792RCV003902438
NM_016042.4(EXOSC3):c.-11T>C SNV
Germline		 Chr9:37785055 Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B
not specified		 Criteria Provided
Conflicting Classifications
 CA5062903 rs_373191549

2 SubmittersRCV000276347RCV000442496
NM_003384.3(VRK1):c.261C>T (p.Tyr87=) SNV
Germline		 Chr14:96846139 Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia
Pontocerebellar hypoplasia type 1A		 Criteria Provided
Conflicting Classifications
 CA7338901 rs_748309797

2 SubmittersRCV000297803RCV002522341
NM_003384.3(VRK1):c.1069-9A>G SNV
Germline		 Chr14:96876021 Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A
Congenital pontocerebellar hypoplasia type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7339186 rs_767585930

4 SubmittersRCV000323388RCV001278971RCV003884464
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=) SNV
Germline		 Chr9:37783958 Conflicting classifications of pathogenicity Condition: not provided
Pontocerebellar hypoplasia type 1B		 Criteria Provided
Conflicting Classifications
 CA5062761 rs_138085418

3 SubmittersRCV000875625RCV001168095
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) SNV
Germline		 Chr14:96860687 Conflicting classifications of pathogenicity not specified
Condition: not provided
Pontocerebellar hypoplasia type 1A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7339143 rs_147853760

10 SubmittersRCV000445136RCV000727208RCV001116698RCV002379307
NM_016042.4(EXOSC3):c.475-12A>G SNV
Germline		 Chr9:37782149 Conflicting classifications of pathogenicity Condition: not provided
Pontocerebellar hypoplasia type 1B		 Criteria Provided
Conflicting Classifications
 CA5062742 rs_370087266

2 SubmittersRCV000578597RCV000696069
NM_003384.3(VRK1):c.1160G>A (p.Arg387His) SNV
Germline		 Chr14:96881177 Pathogenic/Likely pathogenic Inborn genetic diseases
Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 10
Pontocerebellar hypoplasia type 1A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA390932560 rs_1420939606

4 SubmittersRCV000622335RCV003488735RCV003387440RCV003103815
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys) SNV
Unknown		 Chr16:89647238 Likely pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter
 CA397433083 rs_1064794609

1 SubmittersRCV000626145
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter) SNV
Germline		 Chr14:96846143 Pathogenic Inborn genetic diseases
Pontocerebellar hypoplasia type 1A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7338902 rs_772263867

2 SubmittersRCV002458053RCV002533248
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) SNV
Germline		 Chr14:96860643 Pathogenic Pontocerebellar hypoplasia type 1A
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566713184

3 SubmittersRCV000758202RCV001592942
NM_003384.3(VRK1):c.683C>T (p.Thr228Met) SNV
Germline		 Chr14:96855330 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Pontocerebellar hypoplasia type 1A
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_146113610

5 SubmittersRCV001374508RCV001830759RCV003226397RCV004028265
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) SNV
Germline		 Chr14:96860733 Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Multiple Submitters
No Conflicts
 rs_1223645705

2 SubmittersRCV001809826
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro) SNV
Germline		 Chr9:37784992 Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_145677716

3 SubmittersRCV000923636RCV002541008
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys) SNV
Germline		 Chr9:37784993 Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_147135294

3 SubmittersRCV000923637RCV002542175
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) SNV
Germline		 Chr14:96855284 Conflicting classifications of pathogenicity EMG: neuropathic changes
Microcephaly-complex motor and sensory axonal neuropathy syndrome
Pontocerebellar hypoplasia type 1A		 Criteria Provided
Conflicting Classifications
 rs_1595676477

3 SubmittersRCV001003373RCV002479197
NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter) SNV
Germline		 Chr14:96833627 Pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter
 rs_1887100431

1 SubmittersRCV003103923
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter) SNV
Germline		 Chr14:96855307 Pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter
 rs_762979613

1 SubmittersRCV002553209
NM_003384.3(VRK1):c.1159+1G>A SNV
Germline		 Chr14:96876121 Pathogenic/Likely pathogenic Condition: not provided
Pontocerebellar hypoplasia type 1A		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_774877872

2 SubmittersRCV002290574RCV002553287
NM_003384.3(VRK1):c.828T>C (p.Ile276=) SNV
Germline		 Chr14:96856248 Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A Criteria Provided
Conflicting Classifications
 rs_1334577291

2 SubmittersRCV001116697
NM_003384.3(VRK1):c.161-14A>G SNV
Germline		 Chr14:96837748 Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A Criteria Provided
Conflicting Classifications
 rs_375176918

2 SubmittersRCV001121578
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=) SNV
Germline		 Chr9:37785003 Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B Criteria Provided
Conflicting Classifications
 rs_1828679645

2 SubmittersRCV001165972
NM_016042.4(EXOSC3):c.325-6T>C SNV
Germline		 Chr9:37784069 Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B Criteria Provided
Conflicting Classifications
 rs_375827861

2 SubmittersRCV001168859
NM_016042.4(EXOSC3):c.324+15C>T SNV
Germline		 Chr9:37784706 Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B Criteria Provided
Conflicting Classifications
 rs_775818894

2 SubmittersRCV001168860
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr) SNV
Germline		 Chr9:37785043 Pathogenic/Likely pathogenic Condition: not provided
Pontoneocerebellar hypoplasia
Pontocerebellar hypoplasia type 1B		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1325914775

4 SubmittersRCV001200536RCV003331076RCV003770230
NM_003384.3(VRK1):c.889+1G>A SNV
Germline		 Chr14:96856587 Likely pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter
 rs_1482696609

1 SubmittersRCV002561763
NM_003384.3(VRK1):c.889+1G>T SNV
Germline		 Chr14:96856587 Likely pathogenic Inborn genetic diseases
Pontocerebellar hypoplasia type 1A		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1482696609

2 SubmittersRCV002375189RCV002561903
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly) SNV
Germline		 Chr14:96856208 Pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter
 rs_1428656431

2 SubmittersRCV001290422
NM_003384.3(VRK1):c.812T>C (p.Val271Ala) SNV
Germline		 Chr14:96856232 Likely pathogenic Pontocerebellar hypoplasia type 1A No Assertion Criteria Provided
 rs_2139804166

1 SubmittersRCV001645020
NM_003384.3(VRK1):c.216+1G>C SNV
Germline		 Chr14:96837818 Likely pathogenic Pontocerebellar hypoplasia type 1A
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_774518440

3 SubmittersRCV001836384RCV002432061
NM_003384.3(VRK1):c.110G>A (p.Trp37Ter) SNV
Germline		 Chr14:96833581 Pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter
 rs_2139748841

1 SubmittersRCV002550273
NM_003384.3(VRK1):c.705C>G (p.Gly235=) SNV
Germline		 Chr14:96855352 Conflicting classifications of pathogenicity Condition: not provided
Pontocerebellar hypoplasia type 1A		 Criteria Provided
Conflicting Classifications
 rs_2230532

2 SubmittersRCV001761375RCV002539151
NM_016042.4(EXOSC3):c.3G>T (p.Met1Ile) SNV
Germline		 Chr9:37785042 Pathogenic Pontocerebellar hypoplasia type 1B Criteria Provided
Single Submitter
 rs_1198691735

1 SubmittersRCV003827688
NM_003384.3(VRK1):c.733G>T (p.Glu245Ter) SNV
Germline		 Chr14:96856153 Pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter
 rs_1200170208

1 SubmittersRCV002561409
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter) SNV
Germline		 Chr14:96876085 Pathogenic Pontocerebellar hypoplasia type 1A
Neuronopathy, distal hereditary motor, autosomal recessive 10		 Criteria Provided
Single Submitter
 rs_184887106

2 SubmittersRCV002563635RCV003387539
NM_003384.3(VRK1):c.652A>T (p.Lys218Ter) SNV
Germline		 Chr14:96855299 Pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter
 rs_2139801958

1 SubmittersRCV002564383
NM_003384.3(VRK1):c.160+1G>T SNV
Germline		 Chr14:96833632 Likely pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter
 rs_2139749072

1 SubmittersRCV002579619
NM_003384.3(VRK1):c.783G>A (p.Trp261Ter) SNV
Germline		 Chr14:96856203 Pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter
 rs_2139804073

1 SubmittersRCV002553454
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly) SNV
Germline		 Chr9:37782130 Likely pathogenic Pontocerebellar hypoplasia type 1B Criteria Provided
Single Submitter
 rs_2118977758

1 SubmittersRCV002211035
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter) SNV
Germline		 Chr9:37782056 Pathogenic/Likely pathogenic Pontoneocerebellar hypoplasia
Pontocerebellar hypoplasia type 1B		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002308518RCV003102289
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg) SNV
Germline		 Chr9:37785043 Likely pathogenic Pontocerebellar hypoplasia type 1B Criteria Provided
Single Submitter

1 SubmittersRCV002470377
NM_016042.4(EXOSC3):c.151C>T (p.Arg51Ter) SNV
Germline		 Chr9:37784894 Pathogenic Pontocerebellar hypoplasia type 1B Criteria Provided
Single Submitter

1 SubmittersRCV003072623
NM_003384.3(VRK1):c.710-1G>A SNV
Germline		 Chr14:96856129 Likely pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter

1 SubmittersRCV002636991
NM_003384.3(VRK1):c.1069-2A>G SNV
Germline		 Chr14:96876028 Likely pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter

1 SubmittersRCV002863646
NM_003384.3(VRK1):c.22C>T (p.Gln8Ter) SNV
Germline		 Chr14:96833493 Pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter

1 SubmittersRCV003016872
NM_003384.3(VRK1):c.216+1G>A SNV
Germline		 Chr14:96837818 Likely pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter

1 SubmittersRCV003043515
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg) SNV
Germline		 Chr9:37780804 Likely pathogenic Pontocerebellar hypoplasia type 1B Criteria Provided
Single Submitter

1 SubmittersRCV003225691
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter) SNV
Germline		 Chr14:96852920 Pathogenic Inborn genetic diseases
Pontocerebellar hypoplasia type 1A		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003282068RCV003507492
NM_003384.3(VRK1):c.374+1G>T SNV
Germline		 Chr14:96847345 Likely pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter

1 SubmittersRCV003507556
NM_003384.3(VRK1):c.542C>G (p.Ser181Ter) SNV
Germline		 Chr14:96853132 Pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter

1 SubmittersRCV003507656
NM_003384.3(VRK1):c.31A>T (p.Arg11Ter) SNV
Germline		 Chr14:96833502 Pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter

1 SubmittersRCV003508555
NM_003384.3(VRK1):c.161-2A>G SNV
Germline		 Chr14:96837760 Likely pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter

1 SubmittersRCV003506816
NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter) SNV
Germline		 Chr9:37780793 Pathogenic Pontocerebellar hypoplasia type 1B Criteria Provided
Single Submitter

1 SubmittersRCV003529833
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val) SNV
Germline		 Chr9:37785044 Pathogenic Pontocerebellar hypoplasia type 1B Criteria Provided
Single Submitter

1 SubmittersRCV003529892
NM_003384.3(VRK1):c.287-2A>C SNV
Germline		 Chr14:96847255 Likely pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter

1 SubmittersRCV003620836
NM_016042.4(EXOSC3):c.325-1G>T SNV
Germline		 Chr9:37784064 Likely pathogenic Pontocerebellar hypoplasia type 1B Criteria Provided
Single Submitter

1 SubmittersRCV003646533
NM_003384.3(VRK1):c.483+1G>A SNV
Germline		 Chr14:96852940 Likely pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter

1 SubmittersRCV003621418
NM_016042.4(EXOSC3):c.1A>T (p.Met1Leu) SNV
Germline		 Chr9:37785044 Pathogenic Pontocerebellar hypoplasia type 1B Criteria Provided
Single Submitter

1 SubmittersRCV003647130
NM_003384.3(VRK1):c.576+1G>A SNV
Germline		 Chr14:96853167 Likely pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter

1 SubmittersRCV003836653
NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter) SNV
Germline		 Chr14:96856230 Pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter

1 SubmittersRCV003831271
NM_003384.3(VRK1):c.830+1G>C SNV
Germline		 Chr14:96856251 Likely pathogenic Pontocerebellar hypoplasia type 1A Criteria Provided
Single Submitter

1 SubmittersRCV003867784
NM_016042.4(EXOSC3):c.3G>A (p.Met1Ile) SNV
Germline		 Chr9:37785042 Pathogenic Pontocerebellar hypoplasia type 1B Criteria Provided
Single Submitter

1 SubmittersRCV003876594