Related gene-specific medical variations for Gene (Select 10682) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441167	NM_006579.3(EBP):c.292T>C (p.Ser98Pro)	EBP (S98P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676540	NM_006579.3(EBP):c.437T>A (p.Leu146His)	EBP (L146H)	Single nucleotide variant	not provided	GUncertain significance
Select item 1343209	NM_006579.3(EBP):c.337C>A (p.Leu113Met)	EBP (L113M)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 1330409	NM_006579.3(EBP):c.283G>A (p.Ala95Thr)	EBP (A95T)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant +2 more	GUncertain significance
Select item 1322814	NM_006579.3(EBP):c.301+1G>A	EBP	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 624410	NM_006579.3(EBP):c.278A>G (p.Asp93Gly)	EBP (D93G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591740	NM_006579.3(EBP):c.419T>G (p.Phe140Cys)	EBP (F140C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260003	NM_006579.3(EBP):c.301+5G>C	EBP	Single nucleotide variant (intron variant)	not specified	GLikely benign

ClinVar