ClinVar for MedGen (Select 1647359) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338054	GTPBP2, 2-BP DEL, NT1527	GTPBP2	Deletion	Jaberi-Elahi syndrome	GPathogenic
Select item 3338053	c.1236+1G-A	GTPBP2	Single nucleotide variant	Jaberi-Elahi syndrome	GPathogenic
Select item 3064362	NM_019096.5(GTPBP2):c.1726G>T (p.Glu576Ter)	GTPBP2 (E488* +1 more)	Single nucleotide variant (nonsense)	Jaberi-Elahi syndrome	GUncertain significance
Select item 2689181	NM_019096.5(GTPBP2):c.1470C>T (p.Gly490=)	GTPBP2	Single nucleotide variant (synonymous variant)	Jaberi-Elahi syndrome	GUncertain significance
Select item 2689180	NM_019096.5(GTPBP2):c.611C>A (p.Ala204Asp)	GTPBP2 (A116D +1 more)	Single nucleotide variant (missense variant)	Jaberi-Elahi syndrome	GUncertain significance
Select item 2432333	NM_019096.5(GTPBP2):c.939C>G (p.Ile313Met)	GTPBP2 (I225M +1 more)	Single nucleotide variant (missense variant)	Jaberi-Elahi syndrome	GUncertain significance
Select item 2412595	NM_019096.5(GTPBP2):c.8C>A (p.Ser3Ter)	GTPBP2, LOC129996523 (S3*)	Single nucleotide variant (nonsense)	Jaberi-Elahi syndrome	GPathogenic
Select item 1957807	NM_019096.5(GTPBP2):c.1609G>C (p.Val537Leu)	GTPBP2 (V537L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1705264	NM_019096.5(GTPBP2):c.655C>T (p.Arg219Ter)	GTPBP2 (R131*)	Single nucleotide variant (nonsense)	Jaberi-Elahi syndrome	GPathogenic
Select item 1705263	NM_019096.5(GTPBP2):c.1558C>T (p.Arg520Ter)	GTPBP2 (R432*)	Single nucleotide variant (nonsense)	Jaberi-Elahi syndrome	GPathogenic
Select item 1333277	NM_019096.5(GTPBP2):c.1053_1054del (p.Glu352fs)	GTPBP2 (E264fs +1 more)	Deletion (frameshift variant)	Jaberi-Elahi syndrome	GPathogenic
Select item 1324518	NM_019096.5(GTPBP2):c.1187_1188insT (p.Asn397fs)	GTPBP2 (N309fs +1 more)	Insertion (frameshift variant)	Jaberi-Elahi syndrome	GLikely pathogenic
Select item 974842	NM_019096.5(GTPBP2):c.1527_1528del (p.Glu509fs)	GTPBP2 (E421fs +1 more)	Microsatellite (frameshift variant)	Jaberi-Elahi syndrome	GLikely pathogenic
Select item 800941	NM_019096.5(GTPBP2):c.1236+1G>A	GTPBP2	Single nucleotide variant (splice donor variant)	Jaberi-Elahi syndrome	GLikely pathogenic
Select item 544689	NM_019096.5(GTPBP2):c.1408C>T (p.Arg470Ter)	GTPBP2 (R470* +1 more)	Single nucleotide variant (nonsense)	Jaberi-Elahi syndrome	GPathogenic
Select item 544688	NM_019096.5(GTPBP2):c.1219C>T (p.Gln407Ter)	GTPBP2 (Q407* +1 more)	Single nucleotide variant (nonsense)	Jaberi-Elahi syndrome	GPathogenic
Select item 544687	NM_019096.5(GTPBP2):c.430C>T (p.Arg144Ter)	GTPBP2 (R144* +1 more)	Single nucleotide variant (nonsense)	Jaberi-Elahi syndrome	GPathogenic
Select item 544686	NM_019096.5(GTPBP2):c.1237-1G>T	GTPBP2	Single nucleotide variant (splice acceptor variant)	Jaberi-Elahi syndrome	GPathogenic