"Ambry Genetics"[submitter] AND "CIB3"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2294715	NM_054113.4(CIB3):c.556C>G (p.Arg186Gly)	CIB3 (R137G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347407	NM_054113.4(CIB3):c.523C>T (p.Arg175Trp)	CIB3 (R175W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473553	NM_054113.4(CIB3):c.488G>A (p.Arg163Gln)	CIB3 (R114Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618617	NM_054113.4(CIB3):c.410G>A (p.Arg137Gln)	CIB3 (R137Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624395	NM_054113.4(CIB3):c.340A>G (p.Ile114Val)	CIB3 (I114V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246369	NM_054113.4(CIB3):c.304G>C (p.Ala102Pro)	CIB3 (A53P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591395	NM_054113.4(CIB3):c.212G>A (p.Arg71His)	CIB3 (R71H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144914	NM_054113.4(CIB3):c.211C>T (p.Arg71Cys)	CIB3 (R22C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526526	NM_054113.4(CIB3):c.205C>T (p.Pro69Ser)	CIB3 (P69S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553574	NM_054113.4(CIB3):c.196A>C (p.Lys66Gln)	CIB3 (K66Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144913	NM_054113.4(CIB3):c.134A>C (p.Asp45Ala)	CIB3 (D45A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144912	NM_054113.4(CIB3):c.119A>G (p.Gln40Arg)	CIB3 (Q40R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293297	NM_054113.4(CIB3):c.112G>A (p.Ala38Thr)	CIB3 (A38T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144915	NM_054113.4(CIB3):c.97C>A (p.Arg33Ser)	CIB3 (R33S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206459	NM_054113.4(CIB3):c.95A>G (p.Tyr32Cys)	CIB3 (Y32C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance