"Ambry Genetics"[submitter] AND "LOC130006552"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2522939	NM_001039618.4(CREBZF):c.1049C>G (p.Ser350Cys)	CREBZF, LOC130006552 (S350C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077362	NM_001039618.4(CREBZF):c.1036C>T (p.Arg346Trp)	CREBZF, LOC130006552 (R346W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207608	NM_001039618.4(CREBZF):c.996C>G (p.Asp332Glu)	CREBZF, LOC130006552 (D332E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077371	NM_001039618.4(CREBZF):c.990T>A (p.His330Gln)	CREBZF, LOC130006552 (H330Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077370	NM_001039618.4(CREBZF):c.989A>C (p.His330Pro)	CREBZF, LOC130006552 (H330P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077369	NM_001039618.4(CREBZF):c.937C>G (p.Gln313Glu)	CREBZF, LOC130006552 (Q313E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar