"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "DYNC1I2 - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2817809	NM_001378.3(DYNC1I2):c.49C>T (p.Arg17Ter)	DYNC1I2 (R17*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2760151	NM_001378.3(DYNC1I2):c.108A>T (p.Glu36Asp)	DYNC1I2 (E36D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2424739	NC_000002.11:g.(?_171675102)_(174232392_?)dup	CDCA7, CYBRD1 +15 more	Duplication	not provided	GUncertain significance
Select item 1010962	NC_000002.11:g.(?_172291068)_(172750744_?)dup	CYBRD1, DCAF17 +3 more	Duplication	not provided	GUncertain significance

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