"GeneDx"[submitter] AND "LOC126805905"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 1281371	NM_198053.3(CD247):c.58+158C>T	CD247, LOC126805905	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237879	NM_198053.3(CD247):c.58+59G>C	CD247, LOC126805905	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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