ClinVar for MedGen (Select 354733) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1166402	NM_021961.6(TEAD1):c.513C>T (p.Asp171=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 984436	NM_021961.6(TEAD1):c.1261T>A (p.Tyr421Asn)	TEAD1 (Y421N)	Single nucleotide variant (missense variant)	Helicoid peripapillary chorioretinal degeneration	GConflicting classifications of pathogenicity
Select item 813239	NM_022367.4(SEMA4A):c.985C>T (p.Gln329Ter)	SEMA4A (Q160* +3 more)	Single nucleotide variant (nonsense)	Helicoid peripapillary chorioretinal degeneration	GPathogenic
Select item 802657	NM_021961.6(TEAD1):c.331-907AT[4]	TEAD1	Microsatellite (intron variant)	Helicoid peripapillary chorioretinal degeneration	GBenign
Select item 522308	NM_021961.6(TEAD1):c.675C>T (p.Leu225=)	TEAD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 12630	NM_021961.6(TEAD1):c.1261T>C (p.Tyr421His)	TEAD1 (Y421H)	Single nucleotide variant (missense variant)	Helicoid peripapillary chorioretinal degeneration	GPathogenic

ClinVar