"PreventionGenetics, part of Exact Sciences"[submitter] AND "GDF5-AS1" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631825	NM_000557.5(GDF5):c.1420A>T (p.Ile474Phe)	GDF5, GDF5-AS1 (I474F)	Single nucleotide variant (non-coding transcript variant +1 more)	GDF5-related disorder	GLikely pathogenic
Select item 256714	NM_000557.5(GDF5):c.1309T>C (p.Leu437=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 256713	NM_000557.5(GDF5):c.1017= (p.Lys339=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +6 more	GBenign
Select item 2920220	NM_000557.5(GDF5):c.1011C>T (p.His337=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 338318	NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly)	GDF5, GDF5-AS1 (R334G)	Single nucleotide variant (non-coding transcript variant +1 more)	Brachydactyly +6 more	GBenign/Likely benign
Select item 256716	NM_000557.5(GDF5):c.826= (p.Ala276=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +6 more	GBenign

ClinVar