"Centogene AG - the Rare Disease Company"[submitter] AND "GTPBP2"[gene - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 974842	NM_019096.5(GTPBP2):c.1527_1528del (p.Glu509fs)	GTPBP2, POLR1C (E421fs +1 more)	Microsatellite (frameshift variant +1 more)	Jaberi-Elahi syndrome	GLikely pathogenic
Select item 800941	NM_019096.5(GTPBP2):c.1236+1G>A	POLR1C, GTPBP2	Single nucleotide variant (intron variant +1 more)	Jaberi-Elahi syndrome	GLikely pathogenic