"Ambry Genetics"[submitter] AND "RBBP8"[gene] - ClinVar

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Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313114	NM_002894.3(RBBP8):c.45T>A (p.Asp15Glu)	RBBP8 (D15E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548207	NM_002894.3(RBBP8):c.189T>G (p.Asn63Lys)	RBBP8 (N63K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313112	NM_002894.3(RBBP8):c.202G>A (p.Glu68Lys)	RBBP8 (E68K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1368312	NM_002894.3(RBBP8):c.293A>G (p.His98Arg)	RBBP8 (H98R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1206084	NM_002894.3(RBBP8):c.329G>A (p.Arg110Gln)	RBBP8 (R110Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2394043	NM_002894.3(RBBP8):c.331C>A (p.Gln111Lys)	RBBP8 (Q111K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313117	NM_002894.3(RBBP8):c.367G>C (p.Glu123Gln)	RBBP8 (E123Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229963	NM_002894.3(RBBP8):c.425T>C (p.Ile142Thr)	RBBP8 (I142T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288952	NM_002894.3(RBBP8):c.457C>G (p.Leu153Val)	RBBP8 (L153V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2082803	NM_002894.3(RBBP8):c.517G>A (p.Val173Ile)	RBBP8 (V173I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2548279	NM_002894.3(RBBP8):c.547C>T (p.His183Tyr)	RBBP8 (H183Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183841	NM_002894.3(RBBP8):c.590C>G (p.Ser197Cys)	RBBP8 (S197C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2527758	NM_002894.3(RBBP8):c.596G>A (p.Cys199Tyr)	RBBP8 (C199Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152075	NM_002894.3(RBBP8):c.620C>G (p.Ser207Cys)	RBBP8 (S207C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152076	NM_002894.3(RBBP8):c.745T>A (p.Ser249Thr)	RBBP8 (S249T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390388	NM_002894.3(RBBP8):c.889G>A (p.Glu297Lys)	RBBP8 (E297K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307190	NM_002894.3(RBBP8):c.900A>C (p.Arg300Ser)	RBBP8 (R300S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270480	NM_002894.3(RBBP8):c.971G>A (p.Arg324Gln)	RBBP8 (R324Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1424292	NM_002894.3(RBBP8):c.985G>A (p.Val329Ile)	RBBP8 (V329I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1324996	NM_002894.3(RBBP8):c.1072del (p.His358fs)	RBBP8 (H358fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2241872	NM_002894.3(RBBP8):c.1103G>A (p.Cys368Tyr)	RBBP8 (C368Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383152	NM_002894.3(RBBP8):c.1223T>G (p.Ile408Arg)	RBBP8 (I408R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1358859	NM_002894.3(RBBP8):c.1328G>A (p.Arg443Gln)	RBBP8 (R443Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2595382	NM_002894.3(RBBP8):c.1364A>G (p.Glu455Gly)	RBBP8 (E455G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152069	NM_002894.3(RBBP8):c.1622G>A (p.Gly541Asp)	RBBP8 (G541D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1923387	NM_002894.3(RBBP8):c.1700G>C (p.Cys567Ser)	RBBP8 (C567S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 235211	NM_002894.3(RBBP8):c.1771C>T (p.Arg591Cys)	RBBP8 (R591C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3313116	NM_002894.3(RBBP8):c.1874T>C (p.Leu625Pro)	RBBP8 (L625P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1515094	NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro)	RBBP8 (Q643P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2228400	NM_002894.3(RBBP8):c.1939+3G>T	RBBP8	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1463881	NM_002894.3(RBBP8):c.1976C>T (p.Pro659Leu)	RBBP8 (P659L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2347886	NM_002894.3(RBBP8):c.2003T>G (p.Met668Arg)	RBBP8 (M668R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152070	NM_002894.3(RBBP8):c.2030A>G (p.Asp677Gly)	RBBP8 (D677G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225501	NM_002894.3(RBBP8):c.2042C>G (p.Ser681Ter)	RBBP8 (S681*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 502503	NM_002894.3(RBBP8):c.2074T>G (p.Cys692Gly)	RBBP8 (C692G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3152071	NM_002894.3(RBBP8):c.2177A>G (p.Asp726Gly)	RBBP8 (D726G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313113	NM_002894.3(RBBP8):c.2179A>G (p.Met727Val)	RBBP8 (M727V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305463	NM_002894.3(RBBP8):c.2180T>A (p.Met727Lys)	RBBP8 (M727K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152072	NM_002894.3(RBBP8):c.2188C>T (p.Arg730Trp)	RBBP8 (R730W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476889	NM_002894.3(RBBP8):c.2221G>A (p.Ala741Thr)	RBBP8 (A741T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598586	NM_002894.3(RBBP8):c.2248G>A (p.Glu750Lys)	RBBP8 (E750K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401975	NM_002894.3(RBBP8):c.2399G>A (p.Arg800Gln)	RBBP8 (R800Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1030603	NM_002894.3(RBBP8):c.2435C>T (p.Thr812Met)	RBBP8 (T812M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2374794	NM_002894.3(RBBP8):c.2456A>T (p.Tyr819Phe)	RBBP8 (I787F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1377557	NM_002894.3(RBBP8):c.2498C>A (p.Ala833Asp)	RBBP8 (A833D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2198247	NM_002894.3(RBBP8):c.2512C>T (p.His838Tyr)	RBBP8 (H838Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2335385	NM_002894.3(RBBP8):c.2534C>G (p.Pro845Arg)	RBBP8 (P813A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1946664	NM_002894.3(RBBP8):c.2596+3G>A	RBBP8	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3152074	NM_002894.3(RBBP8):c.2613T>A (p.Asp871Glu)	RBBP8 (D871E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 436515	NM_002894.3(RBBP8):c.2613T>G (p.Asp871Glu)	RBBP8 (D871E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2246349	NM_002894.3(RBBP8):c.2614C>G (p.Leu872Val)	RBBP8 (I839M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 51