A total 7 pathogenic variants reported in gene exosome component 2 (EXOSC2)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_014285.7(EXOSC2):c.89G>T (p.Gly30Val) SNV
Germline		 Chr9:130693880 Conflicting classifications of pathogenicity Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5284733 rs_537467155

7 SubmittersRCV000515461RCV002527440
NM_014285.7(EXOSC2):c.593G>A (p.Gly198Asp) SNV
Germline		 Chr9:130702231 Likely pathogenic Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA375247996 rs_756204866

2 SubmittersRCV000515462RCV004808743
NM_014285.7(EXOSC2):c.673-1G>T SNV
Germline		 Chr9:130703052 Conflicting classifications of pathogenicity Neurodevelopmental delay
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome		 Criteria Provided
Conflicting Classifications
 CA375248180 rs_1465736368

2 SubmittersRCV000761615RCV003988855
NM_014285.7(EXOSC2):c.801+1G>A SNV
Germline		 Chr9:130703182 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Clear cell carcinoma of kidney		 Criteria Provided
Conflicting Classifications
 CA5284979 rs_780641666

3 SubmittersRCV001038554RCV004761891RCV005912441
NM_014285.7(EXOSC2):c.260G>A (p.Arg87Gln) SNV
Germline		 Chr9:130697617 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome		 Criteria Provided
Conflicting Classifications
 CA5284789 rs_139286519

2 SubmittersRCV001494802RCV002284969
NM_014285.7(EXOSC2):c.691C>T (p.Arg231Ter) SNV
Germline		 Chr9:130703071 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome		 Criteria Provided
Conflicting Classifications
 CA5284958 rs_149299789

3 SubmittersRCV002015507RCV006635562
NM_014285.7(EXOSC2):c.611G>A (p.Trp204Ter) SNV
Unknown		 Chr9:130702249 Likely pathogenic Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome Criteria Provided
Single Submitter
 CA375248035 rs_2490800900

1 SubmittersRCV003148478