"Baylor Genetics"[submitter] AND "GPC3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 997494	NM_004484.4(GPC3):c.1640A>G (p.Asn547Ser)	GPC3 (N493S +3 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 1 +1 more	GUncertain significance
Select item 939767	NM_004484.4(GPC3):c.1454A>C (p.Asp485Ala)	GPC3 (D431A +3 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 1 +1 more	GUncertain significance
Select item 849942	NM_004484.4(GPC3):c.797A>G (p.Gln266Arg)	GPC3 (Q266R +2 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 1327076	NM_004484.4(GPC3):c.467T>A (p.Ile156Asn)	GPC3 (I102N +2 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 1	GUncertain significance
Select item 1028766	NM_004484.4(GPC3):c.-1G>C	GPC3	Single nucleotide variant (5 prime UTR variant)	Simpson-Golabi-Behmel syndrome type 1	GUncertain significance
Select item 625800	GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)	STK26, TFDP3 +9 more	Copy number loss	Nystagmus 1, congenital, X-linked +1 more	GPathogenic

ClinVar