"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 439635	NM_006579.3(EBP):c.-74+3G>C	EBP	Single nucleotide variant (intron variant)	Connective tissue disorder +1 more	GBenign/Likely benign
Select item 811902	NM_006579.3(EBP):c.188G>A (p.Arg63Gln)	EBP (R63Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1330409	NM_006579.3(EBP):c.283G>A (p.Ala95Thr)	EBP (A95T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 158547	NM_006579.3(EBP):c.382C>T (p.Leu128=)	EBP	Single nucleotide variant (synonymous variant)	Chondrodysplasia punctata 2 X-linked dominant +2 more	GConflicting classifications of pathogenicity
Select item 618615	NM_006579.3(EBP):c.445A>G (p.Ile149Val)	EBP (I149V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 158551	NM_006579.3(EBP):c.511C>T (p.Arg171Cys)	EBP (R171C)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant +2 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

ClinVar