Table 1.

Reported pathogenic mobile element insertions (MEIs).

Gene	Classification	Transcript	Annotation	Inheritance	Orientation	TSD	5’ truncation
ATM	LPATH	NM_139312	c.169–4insL1	AR	−	21 bp	8 bp
BRCA2a	PATH	NM_000059.3	c.3407_3408insAlu	AD	+	17 bp	220 bp
CHD8	LPATH	NM_001170629.1	c.5419_5420insAlu	AD	+	16 bp	None
DEPDC5	PATH	NM_001242896	c.2958_2959insAlu	AD	−	15 bp	211 bp
EFTUD2	PATH	NM_001258353	c.1277_1278insAlu	AD	−	16 bp	2 bp
ETFB	PATH	NM_001985	c.426_427insAlu	AR	+	16 bp	None
MAK	PATH	NM_001242385	c.1297_1298insAlu	AR	−	11 bp	None
NSD1	PATH	NM_022455.4	c.1926_1927insAlu	AD	−	17 bp	None
OCRL	PATH	NM_001587	c.2557_2558insL1	XL	−	17 bp	5657 bp
OFD1	PATH	NM_001330209	c.416_417insAlu	XL	−	15 bp	None
RPL11	PATH	NM_000975	c.375_376insSVA	AD	−	16 bp	716 bp
SLC26A3	LPATH	NM_000111	c.131+3insAlu	AR	−	13 bp	1 bp
USH2A	PATH	NM_206933.2	c.8932_8933insAlu	AR	−	14 bp	1 bp
ZEB2	PATH	NM_014795	c.1600_1601insAlu	AD	−	9 bp	None

Orientation is relative to hg19.

AD autosomal dominant, AR autosomal recessive, Ins insertion, LPATH likely pathogenic, PATH pathogenic, TSD target site duplication, XL X-linked.

^aSecondary finding. All other MEIs are considered diagnostic.