Table 4 CNVs with known association with CHDs for which there is currently insufficient evidence to support a phenotypic expansion involving APVR.

From: Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

Chromosomal Region, size, (hg38 breakpoints)

Disorder associated with deleted or duplicated region [MIM#]

Subject ID

Other cases of APVR reported for this region

Cases of other CHDs reported for this region

References

Deletion 2q31.3q32.1, 555.4 kb, (chr2:181,915,576- 182,470,985)

N/A

S13

Yes

Yes

[21]

Deletion 3q29, 1.68 Mb,

(chr3:195,950,438- 197,629,463)

Chromosome 3q29 microdeletion syndrome [MIM# 609425]

S14

No

Yes

[48]

Duplication 16p13.11, 1.86 Mb

(chr16:14,816,348- 16,678,513)

N/A

S42

No

Yes

[49, 50]

Deletion 17q25.3, 1.08 Mb,

(chr17:82,004,063- 83,087,346)

N/A

S50

No

Yes

[51]

  1. APVR anomalous pulmonary venous return, CHDs congenital heart defects.