"GeneDx"[submitter] AND "PDZD2"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60258	GRCh38/hg38 5p13.3(chr5:30121868-32072887)x1	C5orf22, CDH6 +22 more	Copy number loss	See cases	GUncertain significance
Select item 60259	GRCh38/hg38 5p13.3(chr5:30138275-32106743)x1	C5orf22, CDH6 +23 more	Copy number loss	See cases	GUncertain significance
Select item 1260338	NM_178140.4(PDZD2):c.3820A>G (p.Thr1274Ala)	PDZD2 (T1274A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 253537	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3	AHRR, ADAMTS12 +82 more	Copy number gain	See cases	GPathogenic

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