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Table 2 Details of heterozygous or hemizygous pathogenic/likely pathogenic variants identified in this study

From: Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

Sample

% ROH

Gene

Chr

Position

HGVS (nucleotide)

HGVS (protein)

Variation type

ExAC Allele Count/Total Allele No.

Classification

Associated Disorders

ROH07

10

PNPLA4

X

7,870,101

c.559C > T

p.R187*

Stop-gain

2/87731

Likely pathogenic

Mitochondrial respiratory chain complex deficiencies

ROH21

5.89

CADM1

11

115,088,681

c.752A > C

p.Y251S

Missense

42/121050

Likely pathogenic

Susceptibility to ASD

ROH23

3.6

HBB

11

5,248,155

c.92 + 5G > C

–

Splice region

87/121280

Likely pathogenic

Beta thalassaemia

ROH23

3.6

HBB

11

5,248,224

c.27dupG

p.Ser10Valfs*14

Frameshift

34/121344

Likely pathogenic

Beta thalassaemia

ROH34

5.3

SOS1

2

39,278,394

c.755 T > C

p.I252T

Missense

9/121342

Pathogenic

Noonan syndrome

ROH37

6.13

SFTPC

8

22,020,159

c.115G > A

p.V39M

Missense

4/120740

Likely pathogenic

Interstitial lung disease

ROH44

24.55

OTC

X

38,226,630

c.164A > G

p.Y55C

Missense

0/121412

Likely pathogenic

Ornithine transcarbamylase deficiency

ROH45

15.8

PNPLA4

X

7,870,101

c.559C > T

p.R187*

Stop-gain

2/87731

Likely pathogenic

Mitochondrial respiratory chain complex deficiencies

ROH52

18.1

ASMT

X

1,748,834

c.562 + 2 T > C

–

Splice donor

168/121412

Pathogenic

Susceptibility to ASD