"Ambry Genetics"[submitter] AND "LOC130063779"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2512487	NM_078481.4(ADGRE5):c.2377G>A (p.Val793Ile)	ADGRE5, LOC130063779 (V744I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347904	NM_078481.4(ADGRE5):c.2380C>T (p.Arg794Trp)	ADGRE5, LOC130063779 (R701W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258432	NM_078481.4(ADGRE5):c.2387A>T (p.Glu796Val)	ADGRE5, LOC130063779 (E703V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355369	NM_078481.4(ADGRE5):c.2417G>C (p.Gly806Ala)	ADGRE5, LOC130063779 (G713A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535059	NM_078481.4(ADGRE5):c.2425A>C (p.Lys809Gln)	ADGRE5, LOC130063779 (K716Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591368	NM_078481.4(ADGRE5):c.2468A>G (p.Asn823Ser)	ADGRE5, LOC130063779 (N730S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389653	NM_078481.4(ADGRE5):c.2477G>A (p.Arg826Gln)	ADGRE5, LOC130063779 (R826Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar