"Illumina Laboratory Services, Illumina"[submitter] AND "LOC130056407" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369085	NM_003384.2(VRK1):c.-110C>T	VRK1, LOC130056407	Single nucleotide variant	Pontoneocerebellar hypoplasia	GLikely benign
Select item 315120	NM_003384.2(VRK1):c.-81C>T	LOC130056407, VRK1	Single nucleotide variant	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 888342	NM_003384.3(VRK1):c.-11C>T	LOC130056407, VRK1	Single nucleotide variant (5 prime UTR variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance

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