"GeneDx"[submitter] AND "UGGT2"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57678	GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1	ABCC4, CLDN10 +168 more	Copy number loss	See cases	GPathogenic
Select item 152616	GRCh38/hg38 13q32.1(chr13:95851815-95983626)x1	UGGT2	Copy number loss	See cases	GLikely benign
Select item 1326582	NM_020121.4(UGGT2):c.2101+5A>G	UGGT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253491	GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1	ABCC4, ABHD13 +94 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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