"Ambry Genetics"[submitter] AND "RBPJ"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2322326	NM_015874.6(RBPJ):c.208A>G (p.Lys70Glu)	RBPJ (K83E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321118	NM_015874.6(RBPJ):c.404G>T (p.Gly135Val)	RBPJ (G133V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306172	NM_015874.6(RBPJ):c.416A>T (p.Asp139Val)	RBPJ (D138V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152603	NM_015874.6(RBPJ):c.1004T>C (p.Leu335Pro)	RBPJ (L335P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1402003	NM_015874.6(RBPJ):c.1007C>T (p.Ala336Val)	RBPJ (A335V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2488321	NM_015874.6(RBPJ):c.1063G>A (p.Val355Ile)	RBPJ (V316I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487019	NM_015874.6(RBPJ):c.1294A>C (p.Thr432Pro)	RBPJ (T393P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance