Table 2.

Disease-Causing SLC12A2 Variants

Variant	Sex	Age	Origin	Exon	Prot. domain	Reference
		Hearing	Dev. del.	Phenotype	Effect
p.Val1026Phefs∗2	Girl	14 year old	California	Exon 22	C-terminus	Delpire et al. 80
NKCC1-DFX	hetero		None	Lung, GI, bladder, endocrine	Dominant Negative
22 kb deletion	Boy	5 year old	Illinois	Exons 2–7	TM1–TM5	Macnamara et al.79
Killquist	homo	Deaf		Brain, lung, GI, sweat	Knockout
c.1431delT c.2006-1G>A	Girl	8 year old	Sweden	Exon 8 Exon 13		Stodberg et al.81
	comp	Deaf		Brain, lung, GI, sweat	Knockout
p. Asp981Tyr	Girl + Brother + 4 adults	7 months	Japan	Exon 21	C-terminus	Mutai et al.98
	Hetero	Loss			LOF
p.Pro988Thr	Boy	22 months	Japan	Exon 21	C-terminus	Mutai et al.98
	Hetero	Loss		Minor motor developmental delay	LOF
c.2930AA>G	Girl	17 months	Japan	Exon 21	3′ splicing	Mutai et al.98
	Hetero	Loss		Minor motor developmental delay
p.Val327Ala	Boy	1 year old	United Kingdom	Exon 4	TM2	McNeill et al.99
	Hetero	Loss			LOF
p Arg410Gln	Boy	9 year old	United Kingdom	Exon 6	TM4	McNeill et al.99
	Hetero				LOF
p.Try892*	Girl	15 year old	United Kingdom	Exon 18	C-terminus	McNeill et al.99
	Hetero	Loss			LOF
p.Asn376Ile	Girl	3 year old	United Kingdom	Exon 5	TM3	McNeill et al.99
	Hetero				LOF
p.His186Alafs*17	Girl	6 year old	United Kingdom	Exon 1	N-terminus	McNeill et al.99
	Hetero				LOF
p.Ala379Leu	Boy	21 year old	Italy	Exon 5	TM3	McNeill et al.99
	Hetero				LOF
p.Glu980Lys	Boy	2 year old	United States	Exon 21	C-terminus	McNeill et al.99
	Hetero	Loss			LOF
p.Glu979Lys	Man	44-year-old father	France	Exon 21	C-terminus	McNeill et al.99
	Hetero	Loss			LOF
p.Glu979Lys	Boy	5-year-old son	France	Exon 21	C-terminus	McNeill et al.99
	Hetero	Loss			LOF
p. Tyr199Cys			Quebec	Exon 1	N-terminus	Merner et al.100
	Hetero	Normal		Schizophrrenia	GOF?

Comp, compound heterozyote; Hetero, heterozygote; Homo, homozygote; LOF, loss-of-function; GOF, gain-of--function; TM2, transmembrane domain 2; TM4, transmembrane domain 4; TM1, transmembrane domain 1; TM5, transmembrane domain 5.