ClinVar for MedGen (Select 21734) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2503342	NM_000264.5(PTCH1):c.3945del (p.Tyr1316fs)	PTCH1 (Y1165fs +4 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	JPX, KCNE5 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	TBC1D25, TBL1X +313 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	TSR2, TXLNG +307 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	GAGE12D, GAGE12E +265 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	GLOD5, GLRA2 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 973581	NC_000023.11:g.155985220_155986351delinsT		Indel	Turner syndrome	GPathogenic

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