"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1300 - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1941310	NM_006383.4(CIB2):c.51+13C>T	CIB2, LOC130057683	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2115742	NM_006383.4(CIB2):c.51+6C>G	CIB2, LOC130057683	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 950983	NM_006383.4(CIB2):c.48C>G (p.Tyr16Ter)	LOC130057683, CIB2 (Y16*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1420092	NM_006383.4(CIB2):c.40_47del (p.Asp14fs)	CIB2, LOC130057683 (D14fs)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2197718	NM_006383.4(CIB2):c.39A>G (p.Leu13=)	CIB2, LOC130057683	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1933355	NM_006383.4(CIB2):c.28G>A (p.Glu10Lys)	CIB2, LOC130057683 (E10K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 710301	NM_006383.4(CIB2):c.27C>G (p.Thr9=)	CIB2, LOC130057683	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1123780	NM_006383.4(CIB2):c.24C>T (p.Phe8=)	CIB2, LOC130057683	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1376784	NM_006383.4(CIB2):c.4G>A (p.Gly2Arg)	CIB2, LOC130057683 (G2R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance