"Ambry Genetics"[submitter] AND "LOC126862094"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 655305	NM_001036.6(RYR3):c.13702G>C (p.Ala4568Pro)	AVEN, LOC126862094 +1 more (A4568P +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2266473	NM_001036.6(RYR3):c.13703C>G (p.Ala4568Gly)	AVEN, LOC126862094 +1 more (A4563G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342625	NM_001036.6(RYR3):c.13717G>C (p.Glu4573Gln)	AVEN, LOC126862094 +1 more (E4568Q +1 more)	Single nucleotide variant (missense variant)	RYR3-related Epileptic encephalopathy +1 more	GUncertain significance
Select item 970288	NM_001036.6(RYR3):c.13736A>G (p.Lys4579Arg)	AVEN, LOC126862094 +1 more (K4579R +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 531053	NM_001036.6(RYR3):c.13769C>T (p.Thr4590Ile)	AVEN, LOC126862094 +1 more (T4590I +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 461868	NM_001036.6(RYR3):c.13781C>T (p.Ala4594Val)	LOC126862094, RYR3 +1 more (A4594V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

ClinVar