"GeneDx"[submitter] AND "GTPBP2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 1181361	NM_019096.5(GTPBP2):c.1467+106AC[2]	GTPBP2, POLR1C	Microsatellite (intron variant)	not provided	GBenign
Select item 1169306	NM_019096.5(GTPBP2):c.1429C>T (p.Leu477=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1182025	NM_019096.5(GTPBP2):c.1295+23C>T	POLR1C, GTPBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268358	NM_019096.5(GTPBP2):c.1101-183_1101-180del	GTPBP2	Deletion (intron variant)	not provided	GBenign
Select item 1287334	NM_019096.5(GTPBP2):c.399-156A>G	GTPBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181188	NM_019096.5(GTPBP2):c.398+63G>T	POLR1C, GTPBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294748	NM_019096.5(GTPBP2):c.213+200T>C	GTPBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166830	NM_019096.5(GTPBP2):c.86G>C (p.Gly29Ala)	GTPBP2, LOC129996523 (G29A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1277497	NM_019096.5(GTPBP2):c.-5G>A	GTPBP2, LOC129996523	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign