"Ambry Genetics"[submitter] AND "LOC130005850"[gene] - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2312611	NM_001079559.3(HNRNPUL2):c.233A>G (p.Asp78Gly)	HNRNPUL2, HNRNPUL2-BSCL2 +1 more (D78G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370372	NM_001079559.3(HNRNPUL2):c.212C>T (p.Pro71Leu)	HNRNPUL2, HNRNPUL2-BSCL2 +1 more (P71L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345092	NM_001079559.3(HNRNPUL2):c.182C>G (p.Pro61Arg)	HNRNPUL2, HNRNPUL2-BSCL2 +1 more (P61R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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