"GeneDx"[submitter] AND "LOC129933771"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 58869	GRCh38/hg38 2p16.1(chr2:55426587-56072649)x3	CFAP36, EFEMP1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 1434562	NM_033109.5(PNPT1):c.29G>A (p.Cys10Tyr)	LOC129933771, PNPT1 (C10Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497689	NM_033109.5(PNPT1):c.16T>A (p.Tyr6Asn)	LOC129933771, PNPT1 (Y6N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388275	NM_033109.4(PNPT1):c.-25C>G	PNPT1, LOC129933771	Single nucleotide variant	not specified	GLikely benign

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