ClinVar for MedGen (Select 1920) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233357	NM_001035006.5(RPL17):c.452del (p.Thr151fs)	RPL17, RPL17-C18orf32 (T113fs +3 more)	Deletion (frameshift variant)	High forehead +9 more	GLikely pathogenic
Select item 916674	NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)	TERT (R938W)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +7 more	GLikely pathogenic