Table 2 De novo, compound heterozygous and homozygous variants

SPTBN5

c.73G > A

–

–

p.(Glu25Lys)

–

interaction of cytoskeletal filament with other components of the cell [47]

De novo

PDZD2

c.3317C > T

rs34748216

0.763

p.(Ser1106Phe)

–

insulin regulation [52]

H

PKHD1L1

c.8291A > C

c.11969G > A

rs118074609/

rs146831382

0.713/0.081

p.(Asn2764Thr)/p.(Gly3990Glu)

–

cellular immunity [65]

CH

GLTSCR2

c.568C > T

c.851C > T

rs34462252/

rs200463741

0.163/0.704

p.(Arg190Trp)/p.(Thr284Met)

–

PTEN regulation [66]

CH

PTEN

c.235G > A

rs202004587

–

p.(Ala45Thr)

VATER association with macrocephaly and ventriculomegaly

growth regulation and tumorigenicity of human glioblastoma cells [22]

HET

VANGL1

c.1013C > A

rs74117015

–

p.(Ser338Ter)

Caudal regression syndrome

Regulation of growth of human hepatoma cells [20]

HET

ARHGEF16

c.784A > G

c.1477C > T

–/–

–/–

p.(Thr262Ala)/p.(Leu493Phe)

–

guanyl-nucleotide exchange factor

CH

KIF1A

c.4781C > T

c.2522A > T

rs201825284/–

0.011/–

p.(Ser1594Leu)/p.(Asn841Leu)

mental retardation, spastic paraplegia-30, neuropathy

synaptic-vesicle transportation [67]

CH

CLTCL1

c.4859G > A

c.130G > T

rs5748024/

rs34869740

0.787/0.855

p.(Arg1620His)/p.(Val44Phe)

intracellular trafficking of the glucose transporter GLUT4 [68]

CH

MORN1

c.319G > A

–

–

p.(Gly107Arg)

cardiomyopathy, hypertrophic-17

intracellular ion chanel communication [69]

De novo

DNAH10

c.4846G > A

c.10859C > T

rs376989344/rs202063832

0.012/0.421

p.(Ala1616Thr)/p.(Thr3620Leu)

primary ciliary dyskinesia

inner arm dynein heavy chain [70]

CH

ZNF330

c.6_7insT

–

–

p.(Lys3fs)

–

–

De novo

VPS18

c.1697A > G

c.1823G > A

rs373608134/rs34865655

0.023/0.605–

p.(Tyr566Cys)/p.(Arg608His)

–

protein transportation to the vacuole [71]

CH

PKD1L2 ^a

c.6241_6242ins19nt^b

c.706_707delAA

–/rs55980345

–/–

p.(Thr2081fs)/p(Asn236fs)

–

CH