Table 2 Analyzed genes and variants with their involvement in blood-related functions and cancer

ASXL1 *^▲

Bohring–Opitz syndrome

NM_015338.5:c.1210C>T^►

Nonsense

3

3

p.R404*

Yes

10

90.0%

NM_015338.5:c.2893C>T^►

Nonsense

1

2

p.R965*

Yes

17

70.6%

NM_015338.5:c.1117C>T^►

Nonsense

0

2

–

–

–

–

BRAF*^∆

Cardio-facio-cutaneous

NM_004333.5:c.1799T>A^►

Missense

1

2

p.V600E

Yes

29,274

3.0%

syndrome

NM_004333.5:c.1406G>A

Missense

1

0

p.G469E

Yes

28

0.0%

CBL*

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

NM_005188.3:c.1186T>C

Missense

1

0

p.C396R

Yes

13

100.0%

NM_005188.3:c.1259G>A^►

Missense

2

2

p.R420Q

Yes

27

77.8%

NM_005188.3:c.1111T>C^►

Missense

1

2

p.Y371H

Yes

30

96.7%

DNMT3A*

Tatton–Brown–Rahman syndrome

NM_022552.5:c.2312G>A^►

Missense

3

2

p.R771Q

Yes

8

50.0%

NM_022552.5:c.2644C>T^►

Missense

4

3

p.R882C

Yes

398

98.5%

NM_022552.5:c.2536C>T

Nonsense

1

0

p.Q846*

No

1

100.0%

FGFR3^▲∆

LADD syndrome/Thanatophoric dysplasia, type I

NM_000142.5:c.1537G>A

Missense

1

0

–

–

–

–

NM_000142.5:c.746C>G^►

Missense

1

0

p.S249C

Yes

1,525

0.0%

IDH2*^∆

D-2-hydroxyglutaric aciduria 2

NM_001289910.1:c.263G>A

Missense

4

3

–

–

–

–

KRAS*^∆

Noonan syndrome 3/RAS-associated autoimmune leukoproliferative disorder

NM_004985.4:c.40G>A^►

Missense

1

0

p.V14I

Yes

34

14.71%

NM_004985.4:c.35G>A^►

Missense

1

1

p.G12D

Yes

15,834

1.67%

PTPN11*

Noonan syndrome 1

NM_002834.5:c.1471C>T^►

Missense

1

NA

–

–

–

–

NM_002834.5:c.794G>A^►

Missense

1

0

p.R265Q

Yes

4

100.0%

NM_002834.5:c.188A>G^►

Missense

0

1

p.Y63C

No

4

100.0%

SETBP1

Schinzel–Giedion midface retraction syndrome

NM_015559.3:c.2608G>A^►

Missense

2

1

p.G870S

Yes

72

98.61%