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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 218685	NM_006579.3(EBP):c.13G>A (p.Ala5Thr)	EBP (A5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1164233	NM_006579.3(EBP):c.154C>T (p.Arg52Cys)	EBP (R52C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3086881	NM_006579.3(EBP):c.250G>A (p.Val84Ile)	EBP (V84I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1379206	NM_006579.3(EBP):c.301+3G>C	EBP	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1019011	NM_006579.3(EBP):c.341G>T (p.Gly114Val)	EBP (G114V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 618614	NM_006579.3(EBP):c.512G>A (p.Arg171His)	EBP (R171H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1684701	NM_006579.3(EBP):c.517G>A (p.Gly173Arg)	EBP (G173R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 592979	NM_006579.3(EBP):c.650C>T (p.Thr217Met)	EBP (T217M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign

ClinVar