Total 55 pathogenic variants reported for Hypomyelinating leukodystrophy 11 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) SNV
Germline		 Chr6:43520962 Pathogenic/Likely pathogenic Treacher Collins syndrome 3
Condition: not provided
Hypomyelinating leukodystrophy 11
POLR1C-related disorder
Inborn genetic diseases
Hypomyelinating leukodystrophy 11
Treacher Collins syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA259909 rs_191582628

12 SubmittersRCV000023796RCV000513700RCV000788034RCV002281718RCV002513205RCV002504821
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp) SNV
Germline		 Chr6:43520961 Pathogenic/Likely pathogenic Treacher Collins syndrome 3
Condition: not provided
Hypomyelinating leukodystrophy 11
Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11		 Criteria Provided
Multiple Submitters
No Conflicts
 CA259912 rs_141156009

6 SubmittersRCV000023800RCV000382254RCV000788033RCV005031454
NM_203290.4(POLR1C):c.221A>G (p.Asn74Ser) SNV
Germline		 Chr6:43519412 Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA204036 rs_371802902

7 SubmittersRCV000186584RCV001852434RCV006263731
NM_203290.4(POLR1C):c.95A>T (p.Asn32Ile) SNV
Germline		 Chr6:43517331 Pathogenic Hypomyelinating leukodystrophy 11 Criteria Provided
Single Submitter
 CA204038 rs_796052124

3 SubmittersRCV000186585
NM_203290.4(POLR1C):c.436T>C (p.Cys146Arg) SNV
Germline		 Chr6:43520119 Pathogenic Hypomyelinating leukodystrophy 11 Criteria Provided
Single Submitter
 CA204040 rs_796052125

3 SubmittersRCV000186586
NM_203290.4(POLR1C):c.77C>T (p.Thr26Ile) SNV
Germline		 Chr6:43517313 Pathogenic Hypomyelinating leukodystrophy 11 Criteria Provided
Multiple Submitters
No Conflicts
 CA204042 rs_796052126

4 SubmittersRCV000186588
NM_203290.4(POLR1C):c.326G>A (p.Arg109His) SNV
Germline		 Chr6:43519782 Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 11
Treacher Collins syndrome 3
POLR1C-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA204044 rs_796052127

5 SubmittersRCV000186589RCV000853238RCV003387792
NM_203290.4(POLR1C):c.79A>G (p.Thr27Ala) SNV
Germline		 Chr6:43517315 Conflicting classifications of pathogenicity not specified
Hypomyelinating leukodystrophy 11		 Criteria Provided
Conflicting Classifications
 CA208108 rs_144054843

2 SubmittersRCV000194137RCV000788019
NM_203290.4(POLR1C):c.70-1G>A SNV
Germline		 Chr6:43517305 Pathogenic/Likely pathogenic Condition: not provided
Hypomyelinating leukodystrophy 11
Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602984 rs_886041661

3 SubmittersRCV000368134RCV000788018RCV005031844
NM_203290.4(POLR1C):c.699C>G (p.Tyr233Ter) SNV
Germline		 Chr6:43520668 Pathogenic Condition: not provided
Hypomyelinating leukodystrophy 11		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603008 rs_763593155

2 SubmittersRCV000402973RCV000788030
NM_203290.4(POLR1C):c.572G>A (p.Arg191Gln) SNV
Germline		 Chr6:43520344 Conflicting classifications of pathogenicity Condition: not provided
Hypomyelinating leukodystrophy 11		 Criteria Provided
Conflicting Classifications
 CA3825493 rs_373046018

4 SubmittersRCV000288773RCV000788028
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) SNV
Germline		 Chr6:43519384 Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11
Hearing impairment
not specified
Condition: not provided
Inborn genetic diseases
Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11		 Criteria Provided
Conflicting Classifications
 CA3825367 rs_141471029

12 SubmittersRCV000778794RCV001375152RCV001814980RCV001861282RCV004022026RCV005044579
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) SNV
Germline		 Chr6:43517324 Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 11
Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11
POLR1C-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16044223 rs_1057519455

6 SubmittersRCV000416459RCV000850585RCV006263922
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) SNV
Germline		 Chr6:43519820 Likely pathogenic Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11		 Criteria Provided
Single Submitter
 CA364283103 rs_1554131502

2 SubmittersRCV000661924RCV000661923
NM_203290.4(POLR1C):c.281T>C (p.Val94Ala) SNV
Germline		 Chr6:43519737 Pathogenic Hypomyelinating leukodystrophy 11 Criteria Provided
Single Submitter
 CA364282578 rs_1305006253

2 SubmittersRCV000788020
NM_203290.4(POLR1C):c.313A>T (p.Ile105Phe) SNV
Germline		 Chr6:43519769 Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 11
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA138322857 rs_770637715

2 SubmittersRCV000788021RCV004783855
NM_203290.4(POLR1C):c.322C>T (p.His108Tyr) SNV
Germline		 Chr6:43519778 Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11
Condition: not provided
Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11		 Criteria Provided
Conflicting Classifications
 CA138322870 rs_1015942660

4 SubmittersRCV000788022RCV002253609RCV005036117
NM_203290.4(POLR1C):c.325C>T (p.Arg109Cys) SNV
Germline		 Chr6:43519781 Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 11 Criteria Provided
Multiple Submitters
No Conflicts
 CA364282859 rs_1255115751

2 SubmittersRCV000788023
NM_203290.4(POLR1C):c.349G>C (p.Ala117Pro) SNV
Germline		 Chr6:43519805 Pathogenic Hypomyelinating leukodystrophy 11 Criteria Provided
Single Submitter
 CA364283000 rs_1582181247

1 SubmittersRCV000788024
NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp) SNV
Germline		 Chr6:43520078 Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11
Treacher Collins syndrome 3
Condition: not provided
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA3825424 rs_201320592

9 SubmittersRCV000788025RCV001162227RCV001873200RCV002535733RCV006459905
NM_203290.4(POLR1C):c.502G>A (p.Val168Met) SNV
Germline		 Chr6:43520185 Pathogenic Hypomyelinating leukodystrophy 11 Criteria Provided
Single Submitter
 CA3825454 rs_773388338

1 SubmittersRCV000788027
NM_203290.4(POLR1C):c.733G>A (p.Val245Met) SNV
Germline		 Chr6:43520702 Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3825555 rs_772343871

2 SubmittersRCV000788031RCV001856207
NM_203290.4(POLR1C):c.785T>C (p.Ile262Thr) SNV
Germline		 Chr6:43520754 Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 11 Criteria Provided
Multiple Submitters
No Conflicts
 CA3825565 rs_751006626

3 SubmittersRCV000788032
NM_203290.4(POLR1C):c.938C>T (p.Thr313Met) SNV
Germline		 Chr6:43521197 Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11
Treacher Collins syndrome 3
Condition: not provided
Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11		 Criteria Provided
Conflicting Classifications
 CA3825648 rs_181576159

4 SubmittersRCV000788036RCV001159340RCV002535734RCV005036118
NM_203290.4(POLR1C):c.970G>A (p.Glu324Lys) SNV
Germline		 Chr6:43521229 Pathogenic Hypomyelinating leukodystrophy 11 Criteria Provided
Single Submitter
 CA364285324 rs_1582184344

2 SubmittersRCV000788037
NM_203290.4(POLR1C):c.69+1G>A SNV
Germline		 Chr6:43517179 Pathogenic Hypomyelinating leukodystrophy 11 Criteria Provided
Single Submitter
 CA364279796 rs_1582177745

1 SubmittersRCV000788017
NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys) SNV
Germline		 Chr6:43520104 Conflicting classifications of pathogenicity Condition: not provided
Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11
POLR1C-related disorder		 Criteria Provided
Conflicting Classifications
 CA3825431 rs_148385032

5 SubmittersRCV000898875RCV001162228RCV001333747RCV004541874
NM_203290.4(POLR1C):c.908G>A (p.Arg303Gln) SNV
Germline		 Chr6:43521034 Conflicting classifications of pathogenicity Condition: not provided
Hypomyelinating leukodystrophy 11		 Criteria Provided
Conflicting Classifications
 CA3825616 rs_749189234

2 SubmittersRCV001774020RCV001849235
NM_203290.4(POLR1C):c.793C>T (p.Gln265Ter) SNV
Germline		 Chr6:43520762 Likely pathogenic Condition: not provided
Hypomyelinating leukodystrophy 11
Treacher Collins syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA364284945 rs_2127691140

2 SubmittersRCV001782668RCV005038324
NM_203290.4(POLR1C):c.232C>T (p.Arg78Ter) SNV
Germline		 Chr6:43519423 Pathogenic/Likely pathogenic Condition: not provided
Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11
Treacher Collins syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA364281375 rs_1793021342

3 SubmittersRCV001867402RCV002506921RCV005232690
NM_203290.4(POLR1C):c.901C>T (p.Arg301Trp) SNV
Germline		 Chr6:43521027 Conflicting classifications of pathogenicity Condition: not provided
Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11		 Criteria Provided
Conflicting Classifications
 CA3825614 rs_756072030

2 SubmittersRCV002583462RCV005042872
NM_178148.4(SLC35B2):c.896C>T (p.Ser299Leu) SNV
Germline		 Chr6:44255109 Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11
Treacher Collins syndrome 3
not specified		 Criteria Provided
Conflicting Classifications
 CA138353861 rs_868023411

2 SubmittersRCV004725604RCV004150462
NM_203290.4(POLR1C):c.205G>T (p.Asp69Tyr) SNV
Germline		 Chr6:43519396 Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA364281181 rs_1793020065

3 SubmittersRCV003388304RCV006272514
NM_203290.4(POLR1C):c.922+1G>C SNV
Germline		 Chr6:43521049 Conflicting classifications of pathogenicity Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA138325095 rs_372409106

2 SubmittersRCV005037000RCV003729088
NM_203290.4(POLR1C):c.70-2A>G SNV
Germline		 Chr6:43517304 Likely pathogenic Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11
Hypomyelinating leukodystrophy 11		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005045693RCV005860473
NM_203290.4(POLR1C):c.247G>T (p.Glu83Ter) SNV
Germline		 Chr6:43519438 Likely pathogenic Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11		 Criteria Provided
Single Submitter

1 SubmittersRCV005039780
NM_203290.4(POLR1C):c.383-2A>G SNV
Germline		 Chr6:43520064 Likely pathogenic Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11		 Criteria Provided
Single Submitter

1 SubmittersRCV005039781
NM_203290.4(POLR1C):c.595A>T (p.Ile199Phe) SNV
Germline		 Chr6:43520367 Likely pathogenic Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11		 Criteria Provided
Single Submitter

1 SubmittersRCV005039783
NM_203290.4(POLR1C):c.699C>A (p.Tyr233Ter) SNV
Germline		 Chr6:43520668 Likely pathogenic Treacher Collins syndrome 3
Hypomyelinating leukodystrophy 11		 Criteria Provided
Single Submitter

1 SubmittersRCV005045696
NM_203290.4(POLR1C):c.934T>C (p.Ser312Pro) SNV
Germline		 Chr6:43521193 Likely pathogenic Hypomyelinating leukodystrophy 11 Criteria Provided
Single Submitter

1 SubmittersRCV005860979