ClinVar for Gene (Select 5932) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359270	NM_002894.3(RBBP8):c.1379G>A (p.Cys460Tyr)	RBBP8 (C460Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3346927	NM_002894.3(RBBP8):c.603T>C (p.Asn201=)	RBBP8	Single nucleotide variant (synonymous variant)	RBBP8-related disorder	GLikely benign
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 3313116	NM_002894.3(RBBP8):c.1874T>C (p.Leu625Pro)	RBBP8 (L625P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3313113	NM_002894.3(RBBP8):c.2179A>G (p.Met727Val)	RBBP8 (M727V)	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 3242762	NC_000018.9:g.(?_20516815)_(21534612_?)del	ANKRD29, CABLES1 +6 more	Deletion	Niemann-Pick disease, type C1	GPathogenic
Select item 3233656	NM_002894.3(RBBP8):c.2144-2A>G	RBBP8	Single nucleotide variant (splice acceptor variant)	not specified	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 3152075	NM_002894.3(RBBP8):c.620C>G (p.Ser207Cys)	RBBP8 (S207C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3152072	NM_002894.3(RBBP8):c.2188C>T (p.Arg730Trp)	RBBP8 (R730W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3152070	NM_002894.3(RBBP8):c.2030A>G (p.Asp677Gly)	RBBP8 (D677G)	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 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 3024004	NM_002894.3(RBBP8):c.1812+18A>G	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011949	NM_002894.3(RBBP8):c.2061A>G (p.Thr687=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005195	NM_002894.3(RBBP8):c.1939+20G>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998464	NM_002894.3(RBBP8):c.516C>T (p.Gly172=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994258	NM_002894.3(RBBP8):c.110-18T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976286	NM_002894.3(RBBP8):c.153-6C>T	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972355	NM_002894.3(RBBP8):c.1638C>G (p.Pro546=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971564	NM_002894.3(RBBP8):c.2028+13G>T	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963467	NM_002894.3(RBBP8):c.1977G>A (p.Pro659=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959541	NM_002894.3(RBBP8):c.2494T>C (p.Leu832=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958798	NM_002894.3(RBBP8):c.361+13T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957546	NM_002894.3(RBBP8):c.709+18A>G	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919241	NM_002894.3(RBBP8):c.2079A>C (p.Thr693=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918702	NM_002894.3(RBBP8):c.355G>A (p.Glu119Lys)	RBBP8 (E119K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906995	NM_002894.3(RBBP8):c.2337G>A (p.Pro779=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874237	NM_002894.3(RBBP8):c.2232C>T (p.Phe744=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869715	NM_002894.3(RBBP8):c.2271C>T (p.Ala757=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804803	NM_002894.3(RBBP8):c.709+15G>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804246	NM_002894.3(RBBP8):c.772G>T (p.Ala258Ser)	RBBP8 (A258S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800710	NM_002894.3(RBBP8):c.1704T>A (p.Ser568=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800045	NM_002894.3(RBBP8):c.324T>C (p.Asn108=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799993	NM_002894.3(RBBP8):c.1827T>C (p.His609=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796177	NM_002894.3(RBBP8):c.1383C>G (p.Pro461=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791664	NM_002894.3(RBBP8):c.1812+16T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784410	NM_002894.3(RBBP8):c.709+10A>T	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779774	NM_002894.3(RBBP8):c.2144-19C>T	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778677	NM_002894.3(RBBP8):c.1940-20G>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753266	NM_002894.3(RBBP8):c.604+19T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2723280	NM_002894.3(RBBP8):c.1520A>G (p.Gln507Arg)	RBBP8 (Q507R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722785	NM_002894.3(RBBP8):c.1940-8T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707185	NM_002894.3(RBBP8):c.255A>G (p.Arg85=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695775	NM_002894.3(RBBP8):c.249-17C>T	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689862	NM_002894.3(RBBP8):c.65A>C (p.Asp22Ala)	RBBP8 (D22A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689861	NM_002894.3(RBBP8):c.1487G>A (p.Arg496Gln)	RBBP8 (R496Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648618	NM_002894.3(RBBP8):c.2481A>C (p.Glu827Asp)	RBBP8 (E827D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627339	NM_002894.3(RBBP8):c.1486del (p.Arg496fs)	RBBP8 (R496fs)	Deletion (frameshift variant)	not specified	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 2595382	NM_002894.3(RBBP8):c.1364A>G (p.Glu455Gly)	RBBP8 (E455G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2548207	NM_002894.3(RBBP8):c.189T>G (p.Asn63Lys)	RBBP8 (N63K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2476889	NM_002894.3(RBBP8):c.2221G>A (p.Ala741Thr)	RBBP8 (A741T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424567	NC_000018.9:g.(?_20586306)_(20586415_?)del	RBBP8	Deletion	not provided	GUncertain significance
Select item 2422760	NC_000018.9:g.(?_18963480)_(21534612_?)dup	ABHD3, ANKRD29 +15 more	Duplication	Niemann-Pick disease, type C1	GUncertain significance
Select item 2417801	NM_002894.3(RBBP8):c.684T>C (p.Tyr228=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2394043	NM_002894.3(RBBP8):c.331C>A (p.Gln111Lys)	RBBP8 (Q111K)	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 2383152	NM_002894.3(RBBP8):c.1223T>G (p.Ile408Arg)	RBBP8 (I408R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2347886	NM_002894.3(RBBP8):c.2003T>G (p.Met668Arg)	RBBP8 (M668R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2307190	NM_002894.3(RBBP8):c.900A>C (p.Arg300Ser)	RBBP8 (R300S)	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 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 2270480	NM_002894.3(RBBP8):c.971G>A (p.Arg324Gln)	RBBP8 (R324Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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
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 2229963	NM_002894.3(RBBP8):c.425T>C (p.Ile142Thr)	RBBP8 (I142T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2225501	NM_002894.3(RBBP8):c.2042C>G (p.Ser681Ter)	RBBP8 (S681*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
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 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 2170479	NM_002894.3(RBBP8):c.2658A>G (p.Ala886=)	RBBP8 (Q854R)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2170267	NM_002894.3(RBBP8):c.2254G>C (p.Glu752Gln)	RBBP8 (E752Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155196	NM_002894.3(RBBP8):c.296T>C (p.Met99Thr)	RBBP8 (M99T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150681	NM_002894.3(RBBP8):c.220C>T (p.His74Tyr)	RBBP8 (H74Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142720	NM_002894.3(RBBP8):c.12G>A (p.Ser4=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131565	NM_002894.3(RBBP8):c.1318T>A (p.Leu440Met)	RBBP8 (L440M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129410	NM_002894.3(RBBP8):c.808-16T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2127871	NM_002894.3(RBBP8):c.1705C>T (p.Pro569Ser)	RBBP8 (P569S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120523	NM_002894.3(RBBP8):c.2080T>A (p.Leu694Met)	RBBP8 (L694M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118576	NM_002894.3(RBBP8):c.2368T>C (p.Leu790=)	RBBP8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2118058	NM_002894.3(RBBP8):c.1724T>C (p.Leu575Ser)	RBBP8 (L575S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117535	NM_002894.3(RBBP8):c.282A>G (p.Val94=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095668	NM_002894.3(RBBP8):c.605-21_605-19del	RBBP8	Deletion (intron variant)	not provided	GLikely benign
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 2077895	NM_002894.3(RBBP8):c.2099T>C (p.Leu700Pro)	RBBP8 (L700P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072561	NM_002894.3(RBBP8):c.604+1del	RBBP8	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2072150	NM_002894.3(RBBP8):c.1110T>G (p.Ser370=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067024	NM_002894.3(RBBP8):c.800A>G (p.Glu267Gly)	RBBP8 (E267G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063775	NM_002894.3(RBBP8):c.344A>G (p.Lys115Arg)	RBBP8 (K115R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050494	NM_002894.3(RBBP8):c.1772G>C (p.Arg591Pro)	RBBP8 (R591P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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