"GeneDx"[submitter] AND "LOC130067389"[gene] - ClinVar - NCBI

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Items: 5

	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 1181572	NM_001039141.3(TRIOBP):c.5323-5311A>G	LOC130067389, TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208825	NM_001039141.3(TRIOBP):c.5323-5171C>T	LOC130067389, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign

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