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

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 2502536	NM_030650.3(LNPK):c.931A>G (p.Arg311Gly)	LNPK (R188G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502647	NM_030650.3(LNPK):c.855G>A (p.Met285Ile)	LNPK (M162I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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