"GDF3-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30591	NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)	GDF3 (R266C)	Single nucleotide variant (missense variant)	GDF3-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 3056871	NM_020634.3(GDF3):c.696C>A (p.Ser232=)	GDF3	Single nucleotide variant (synonymous variant)	GDF3-related disorder	GLikely benign
Select item 767184	NM_020634.3(GDF3):c.583C>T (p.Arg195Trp)	GDF3 (R195W)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 3, autosomal dominant +3 more	GBenign/Likely benign
Select item 1562457	NM_020634.3(GDF3):c.579C>T (p.Asn193=)	GDF3	Single nucleotide variant (synonymous variant)	GDF3-related disorder +1 more	GBenign
Select item 772340	NM_020634.3(GDF3):c.480C>T (p.Thr160=)	GDF3	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 3, autosomal dominant +1 more	GLikely benign
Select item 2637178	NM_020634.3(GDF3):c.268+1G>A	GDF3	Single nucleotide variant (splice donor variant)	GDF3-related disorder	GUncertain significance

ClinVar