Table 2 Recurrent variants

From: Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions

  

Number of cases

 

Gene

Variant

Prenatal

Postnatal

Total

Classification

PTPN11

c.188A>G [p.Tyr63Cys]

3

10

13

Pathogenic

PTPN11

c.922A>G [p.Asn308Asp]

0

11

11

Pathogenic

PTPN11

c.236A>G [p.Gln79Arg]

1

5

6

Pathogenic

PTPN11

c.1510A>G [p.Met504Val]

1

4

5

Pathogenic

PTPN11

c.417G>C [p.Glu139Asp]

0

4

4

Pathogenic

PTPN11

c.923A>G [p.Asn308Ser]

1

3

4

Pathogenic

PTPN11

c.1507G>A, c.1507G>C [p.Gly503Arg]

1

3

4

Pathogenic

RAF1

c.770C>T [p.Ser257Leu]

1

3

4

Pathogenic

PTPN11

c.844A>G [p.Ile282Val]

0

3

3

Pathogenic

SHOC2

c.4A>G [p.Ser2Gly]

0

3

3

Pathogenic

PTPN11

c.181G>A [p.Asp61Asn]

1

2

3

Pathogenic

KRAS

c.40G>A [p.Val14Ile]

0

2

2

Pathogenic

MAP2K1

c.389A>G [p.Tyr130Cys]

0

2

2

Pathogenic

PTPN11

c.174C>G [p.Asn58Lys]

0

2

2

Pathogenic

PTPN11

c.124A>G [p.Thr42Ala]

1

1

2

Pathogenic

PTPN11

c.218C>T [p.Thr73Ile]

1

1

2

Pathogenic

PTPN11

c.179G>T [p.Gly60Val]

2

0

2

Likely pathogenic

PTPN11

c.181G>C [p.Asp61His]

2

0

2

Pathogenic

PTPN11

c.854T>C [p.Phe285Ser]

2

0

2

Pathogenic

PTPN11

c.1505C>T [p.Ser502Leu]

2

0

2

Pathogenic

Back to article page