ClinVar for MedGen (Select 1824052) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1806470	NM_024616.3(C3orf52):c.438_442del (p.Thr148fs)	C3orf52 (T148fs)	Deletion (frameshift variant +1 more)	Hypotrichosis 15	GPathogenic
Select item 1806469	NM_024616.3(C3orf52):c.34G>T (p.Glu12Ter)	C3orf52 (E12*)	Single nucleotide variant (nonsense)	Hypotrichosis 15	GPathogenic
Select item 1806468	NM_024616.3(C3orf52):c.492T>A (p.Tyr164Ter)	C3orf52 (Y164*)	Single nucleotide variant (nonsense +1 more)	Hypotrichosis 15	GPathogenic

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