"GeneDx"[submitter] AND "TMEM50B"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 151383	GRCh38/hg38 21q22.11(chr21:33361172-34048047)x1	ATP5PO, CRYZL1 +41 more	Copy number loss	See cases	GLikely pathogenic
Select item 1268638	NM_005534.4(IFNGR2):c.722-55T>C	IFNGR2, TMEM50B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1170207	NM_005534.4(IFNGR2):c.879+19C>T	IFNGR2, TMEM50B	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 36377	NM_005534.4(IFNGR2):c.879+19del	IFNGR2, TMEM50B	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1276407	NM_005534.4(IFNGR2):c.880-87dup	IFNGR2, TMEM50B	Duplication (intron variant)	not provided	GBenign
Select item 1266737	NM_005534.4(IFNGR2):c.880-86T>A	IFNGR2, TMEM50B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 59012	GRCh38/hg38 21q22.11(chr21:33465408-33806416)x1	CRYZL1, DNAJC28 +15 more	Copy number loss	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253448	GRCh37/hg19 21q22.11(chr21:32578640-35060092)x1	C21orf62, IFNAR1 +24 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic