Total 8 pathogenic variants reported for X-linked intellectual disability, van Esch type 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001330360.2(POLA1):c.254T>G (p.Ile85Ser) SNV
Germline		 ChrX:24703336 Pathogenic X-linked intellectual disability, van Esch type No Assertion Criteria Provided
 CA412610249 rs_1569271378

2 SubmittersRCV000791329
NM_001330360.2(POLA1):c.346G>A (p.Gly116Arg) SNV
Germline		 ChrX:24704469 Pathogenic X-linked intellectual disability, van Esch type No Assertion Criteria Provided
 CA412610471 rs_1569271892

2 SubmittersRCV000791333
NM_001330360.2(POLA1):c.4160C>T (p.Pro1387Leu) SNV
Germline		 ChrX:24888118 Pathogenic X-linked intellectual disability, van Esch type No Assertion Criteria Provided
 CA412609578 rs_1569350993

2 SubmittersRCV000791330
NM_001330360.2(POLA1):c.525+1G>A SNV
Germline		 ChrX:24715204 Pathogenic X-linked intellectual disability, van Esch type No Assertion Criteria Provided
 CA412527843 rs_1569277899

2 SubmittersRCV000791331
NM_001330360.2(POLA1):c.1207G>A (p.Asp403Asn) SNV
Germline		 ChrX:24724341 Likely pathogenic X-linked intellectual disability, van Esch type Criteria Provided
Single Submitter
 CA10372938 rs_774419889

1 SubmittersRCV000995840
NM_001330360.2(POLA1):c.463-2A>T SNV
Germline		 ChrX:24715139 Pathogenic X-linked intellectual disability, van Esch type Criteria Provided
Single Submitter
 CA412527407 rs_2148341850

1 SubmittersRCV001786494
NM_001330360.2(POLA1):c.463-9C>T SNV
Germline		 ChrX:24715132 Conflicting classifications of pathogenicity Condition: not provided
X-linked intellectual disability, van Esch type		 Criteria Provided
Conflicting Classifications
 CA10372791 rs_778776585

2 SubmittersRCV002198670RCV002466743