"Ambry Genetics"[submitter] AND "CIB2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287702	NM_006383.4(CIB2):c.473T>G (p.Leu158Trp)	CIB2 (L158W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2558184	NM_006383.4(CIB2):c.295T>C (p.Cys99Arg)	CIB2 (C56R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 850355	NM_006383.4(CIB2):c.289G>A (p.Val97Met)	CIB2 (V48M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 844404	NM_006383.4(CIB2):c.238G>A (p.Glu80Lys)	CIB2 (E80K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 854599	NM_006383.4(CIB2):c.227C>T (p.Ala76Val)	CIB2 (A76V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1047257	NM_006383.4(CIB2):c.166A>G (p.Met56Val)	CIB2 (M13V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3144911	NM_006383.4(CIB2):c.146G>A (p.Ser49Asn)	CIB2 (S6N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277946	NM_006383.4(CIB2):c.72G>C (p.Lys24Asn)	CIB2 (K24N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2286978	NM_006383.4(CIB2):c.44A>G (p.Asn15Ser)	CIB2, LOC130057683 (N15S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2539417	NM_006383.4(CIB2):c.23T>G (p.Phe8Cys)	CIB2, LOC130057683 (F8C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3267325	NM_006383.4(CIB2):c.20T>C (p.Ile7Thr)	CIB2, LOC130057683 (I7T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance