"GTPBP2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2064413	NM_019096.5(GTPBP2):c.1673G>A (p.Arg558His)	GTPBP2, POLR1C (R470H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2427863	NM_019096.5(GTPBP2):c.1629C>G (p.Ala543=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1613941	NM_019096.5(GTPBP2):c.1572G>A (p.Gln524=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3030337	NM_019096.5(GTPBP2):c.60C>T (p.Ala20=)	GTPBP2, LOC129996523 +1 more	Single nucleotide variant (synonymous variant +1 more)	GTPBP2-related disorder	GLikely benign
Select item 3037832	NM_019096.5(GTPBP2):c.21G>A (p.Glu7=)	GTPBP2, LOC129996523 +1 more	Single nucleotide variant (synonymous variant +1 more)	GTPBP2-related disorder	GLikely benign

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