1. Name: IRF6, 18-BP DEL/1-BP INS AND Van der Woude syndrome
Gene(s): IRF6 
Phenotype: Van der Woude syndrome
Clinical Significance: Pathogenic 
Review Status: classified by single submitter
Accession: RCV000003581.1 
ID: 2416379


2. Name: OFD1:c.1071_1078delGAAGGATGinsTTTTTCCT (p.Leu357_Asp360delinsLeuPheSerTyr) AND Oral-facial-digital syndrome
Gene(s): OFD1 
Variation: c.1071_1078delGAAGGATGinsTTTTTCCT (p.Leu357_Asp360delinsLeuPheSerTyr)
Phenotype: Oral-facial-digital syndrome
Clinical Significance: Pathogenic 
Review Status: classified by single submitter
Chromosome: X
Location (GRCh38):13771502-13771509
Accession: RCV000033954.2 
ID: 2479860


3. Name: GLI3:c.2058_2059delGGinsAT (p.Arg686_Glu687delinsArgTer) AND Pallister-Hall syndrome
Gene(s): GLI3 
Variation: c.2058_2059delGGinsAT (p.Arg686_Glu687delinsArgTer)
Phenotype: Pallister-Hall syndrome
Clinical Significance: Pathogenic 
Review Status: classified by single submitter
Chromosome: 7
Location (GRCh38):42011980-42011981
Accession: RCV000031862.1 
ID: 2478631


4. Name: GNAS:c.775_776delCGinsGC (p.Arg259Ala) AND Pseudopseudohypoparathyroidism
Gene(s): GNAS 
Variation: c.775_776delCGinsGC (p.Arg259Ala)
Phenotype: Pseudopseudohypoparathyroidism
Clinical Significance: Pathogenic 
Review Status: classified by single submitter
Chromosome: 20
Location (GRCh38):57484792-57484793
Accession: RCV000017307.22 
ID: 2471302


5. Name: TFAP2A, 18-BP DEL/6-BP INS, NT828 AND Branchiooculofacial syndrome
Gene(s): TFAP2A 
Phenotype: Branchiooculofacial syndrome
Clinical Significance: Pathogenic 
Review Status: classified by single submitter
Accession: RCV000019534.23 
ID: 2273650


6. Name: RPL5, 5-BP DEL/39-BP INS, NT498 AND Aase syndrome
Gene(s): RPL5 
Phenotype: Aase syndrome
Clinical Significance: Pathogenic 
Review Status: classified by single submitter
Accession: RCV000006560.1 
ID: 2368247


7. Name: DNMT1:c.1518_1520delTCCinsATA (p.Asp506_Pro507delinsGluTyr) AND NEUROPATHY, HEREDITARY SENSORY, TYPE IE
Gene(s): DNMT1 
Variation: c.1518_1520delTCCinsATA (p.Asp506_Pro507delinsGluTyr)
Phenotype: NEUROPATHY, HEREDITARY SENSORY, TYPE IE
Clinical Significance: Pathogenic 
Review Status: classified by single submitter
Chromosome: 19
Location (GRCh38):10265705-10265707
Accession: RCV000022530.26 
ID: 2475123