Related gene-specific medical variations for Gene (Select 3516) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339977	NM_015874.6(RBPJ):c.155+6A>C	LOC126807011, RBPJ	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3152604	NM_015874.6(RBPJ):c.98A>G (p.Gln33Arg)	LOC126807011, RBPJ (Q32R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030365	NM_015874.6(RBPJ):c.103G>C (p.Val35Leu)	LOC126807011, RBPJ (V13L +4 more)	Single nucleotide variant (missense variant)	RBPJ-related disorder	GUncertain significance
Select item 2781515	NM_015874.6(RBPJ):c.103G>A (p.Val35Ile)	LOC126807011, RBPJ (V13I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2010704	NM_015874.6(RBPJ):c.60-13T>C	LOC126807011, RBPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930200	NM_015874.6(RBPJ):c.71G>A (p.Arg24Gln)	LOC126807011, RBPJ (R24Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1551679	NM_015874.6(RBPJ):c.129A>G (p.Ala43=)	LOC126807011, RBPJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1309159	NM_015874.6(RBPJ):c.134del (p.Lys45fs)	LOC126807011, RBPJ (K23fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1241825	NM_015874.6(RBPJ):c.60-116A>G	LOC126807011, RBPJ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206799	NM_015874.6(RBPJ):c.155+203A>G	LOC126807011, RBPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181052	NM_015874.6(RBPJ):c.60-68G>A	LOC126807011, RBPJ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178245	NM_015874.6(RBPJ):c.60-285G>A	LOC126807011, RBPJ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775215	NM_015874.6(RBPJ):c.141T>C (p.Tyr47=)	LOC126807011, RBPJ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 523586	NM_015874.6(RBPJ):c.154A>G (p.Arg52Gly)	LOC126807011, RBPJ (R65G +4 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 3 +1 more	GLikely pathogenic
Select item 521335	NM_015874.6(RBPJ):c.130C>G (p.Gln44Glu)	LOC126807011, RBPJ (Q57E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 444135	NC_000004.12:g.26450075G>A	RBPJ	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 444127	NC_000004.12:g.26453607G>C	RBPJ	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 444126	NC_000004.12:g.26444384G>A	RBPJ	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
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

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Links from Gene

Items: 23