Table 2.

Phenotypic characteristics (gender, age, BMI, BMI-SDS) of heterozygous carriers of infrequent variants detected in the genomic region of DGAT2

Mutation	Gender	Age [years]	BMI [kg/m2]	BMI-SDS*
p.V82A	male	12	29.30	3.6
p.R297Q	female	26	16.9	-1.3
	female	23	17.0	-1.6
p.G318S	male	25	19.6	-1.2
	male	20	17.9	-1.9
p.L385V	male	23	20.4	-0.9
c.812A > G (T194T)	female	12	31.4	4.6
c.920T > C (S230S)	male	13	31.5	3.7
-584C > G	female	34	18.4	-1.3
-30C > T	male	24	19.6	-1.4
IVS2–3C > G	male	27	19.5	-1.5
IVS7+23C > T	female	14	35.9	5.4
	female	16	33.8	5.2
IVS7+73C > T	male	12	29.3	3.3
*22C > T	male	21	33.8	4.7

All individuals are heterozygous carries of these variants. * Estimates based on Hebebrand et al., 1996 (53)