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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2336468	NM_032565.5(EBPL):c.529G>T (p.Val177Phe)	EBPL (V177F)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2607827	NM_032565.5(EBPL):c.412G>C (p.Glu138Gln)	EBPL (E138Q)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2373557	NM_032565.5(EBPL):c.319G>T (p.Ala107Ser)	EBPL (A107S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220192	NM_032565.5(EBPL):c.319G>A (p.Ala107Thr)	EBPL (A107T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595259	NM_032565.5(EBPL):c.130C>T (p.Leu44Phe)	EBPL (L44F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527555	NM_032565.5(EBPL):c.124G>T (p.Gly42Trp)	EBPL (G42W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488764	NM_032565.5(EBPL):c.107A>G (p.Gln36Arg)	EBPL (Q36R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2553830	NM_032565.5(EBPL):c.79G>A (p.Ala27Thr)	EBPL (A27T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar