ClinVar for MedGen (Select 766662) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435387	NM_005349.4(RBPJ):c.20C>A (p.Ser7Ter)	RBPJ (S7*)	Single nucleotide variant (nonsense +2 more)	Adams-Oliver syndrome 3	GUncertain significance
Select item 1805553	NM_015874.6(RBPJ):c.140A>G (p.Tyr47Cys)	LOC126807011, RBPJ (Y25C +4 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 3	GUncertain significance
Select item 1803755	NM_015874.6(RBPJ):c.155G>C (p.Arg52Thr)	LOC126807011, RBPJ (R30T +4 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 3	GLikely pathogenic
Select item 1696469	NM_015874.6(RBPJ):c.1375G>A (p.Glu459Lys)	RBPJ (E405K +5 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 3	GUncertain significance
Select item 1342378	NM_015874.6(RBPJ):c.50G>A (p.Arg17Gln)	RBPJ (R15Q +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 523588	NM_015874.6(RBPJ):c.957C>A (p.Ser319Arg)	RBPJ (S332R +3 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 3	GLikely pathogenic
Select item 523587	NM_015874.6(RBPJ):c.157T>G (p.Phe53Val)	RBPJ (F66V +4 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 3	GLikely pathogenic
Select item 523586	NM_015874.6(RBPJ):c.154A>G (p.Arg52Gly)	LOC126807011, RBPJ (R65G +4 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GLikely pathogenic
Select item 37054	NM_015874.6(RBPJ):c.466A>G (p.Lys156Glu)	RBPJ (K169E +4 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 3	GPathogenic
Select item 37053	NM_015874.6(RBPJ):c.149A>G (p.Glu50Gly)	LOC126807011, RBPJ (E63G +4 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 3	GPathogenic