"GeneDx"[submitter] AND "GTPBP1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 1252553	NM_015374.3(SUN2):c.2041-216T>A	GTPBP1, SUN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168063	NM_015374.3(SUN2):c.2011G>A (p.Gly671Ser)	GTPBP1, SUN2 (G671S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1170297	NM_015374.3(SUN2):c.1824A>G (p.Gln608=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy +1 more	GBenign
Select item 1257955	NM_015374.3(SUN2):c.1578+28A>G	GTPBP1, SUN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294973	NM_015374.3(SUN2):c.1147-195_1147-194dup	GTPBP1, SUN2	Duplication (intron variant)	not provided	GBenign
Select item 461670	NM_015374.3(SUN2):c.1042C>T (p.Arg348Cys)	GTPBP1, SUN2 (R348C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic