"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "RBPJ"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2654701	NM_015874.2(RBPJ):c.7G>C (p.Gly3Arg)	RBPJ (G3R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2654702	NM_015874.6(RBPJ):c.46A>G (p.Lys16Glu)	RBPJ (K14E +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2654703	NM_015874.6(RBPJ):c.188T>C (p.Met63Thr)	RBPJ (M41T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809630	NM_015874.6(RBPJ):c.673C>T (p.Arg225Ter)	RBPJ (R223* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2654704	NM_015874.6(RBPJ):c.1023G>T (p.Val341=)	RBPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 789470	NM_015874.6(RBPJ):c.1284C>T (p.Thr428=)	RBPJ	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign

ClinVar