"GeneDx"[submitter] AND "LOC129935863"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 1190696	NM_001195129.2(PRSS56):c.446+116C>A	LOC129935863, PRSS56	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269333	NM_001195129.2(PRSS56):c.446+137A>G	LOC129935863, PRSS56	Single nucleotide variant (intron variant)	not provided	GBenign

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