Recognizable type of pituitary, heart, kidney and skeletal dysplasia mostly caused by SEMA3A mutation: A case report

Table 1 Clinical whole-exome detection results

Gene	Sequence	Nucleotide change/mutation	Amino acid change	Gene subregion	Heterozygous	Chromosome location	Variant type
ACAN	NM_013227.3	c.6798G>A	p.Pro22666=	EX12	Heterozygous	Chr15: 89402614	VUS
LHCGR	NM_000233.3	c.911G>A	p.Cys304Tyr	EX10	Heterozygous	Chr2: 48921399	VUS
HSPG2	NM_005529.5	c.1216C>T	p.Pro406Ser	EX11	Heterozygous	Chr1: 22211645	VUS
PKD1L1	NM_138295.3	c.2842T>G	p.Phe948Val	EX18	Heterozygous	Chr7: 47925647	VUS
SEMA3A	NM_006080.2	c.950A>G	p.Lys317Arg	EX9	Heterozygous	Chr7: 83640383	VUS

VUS: Variant uncertain significace.