"GeneDx"[submitter] AND "LOC130062628"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 259177	NM_003839.4(TNFRSF11A):c.-39G>A	LOC130062628, TNFRSF11A	Single nucleotide variant (5 prime UTR variant)	Osteopetrosis +3 more	GBenign/Likely benign
Select item 193259	NM_003839.4(TNFRSF11A):c.-9T>C	LOC130062628, TNFRSF11A	Single nucleotide variant (5 prime UTR variant)	Osteopetrosis +3 more	GBenign/Likely benign

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