ClinVar for Gene (Select 11342) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047514	NM_183381.3(RNF13):c.145G>A (p.Asp49Asn)	RNF13 (D49N)	Single nucleotide variant (missense variant +2 more)	RNF13-related condition	GUncertain significance
Select item 3040590	NM_183381.3(RNF13):c.432C>T (p.Asp144=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	RNF13-related condition	GLikely benign
Select item 3009953	NM_183381.3(RNF13):c.90G>A (p.Leu30=)	RNF13	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3005510	NM_183381.3(RNF13):c.601T>C (p.Phe201Leu)	RNF13 (F201L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993631	NM_183381.3(RNF13):c.606+7A>C	RNF13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988774	NM_183381.3(RNF13):c.322-4G>C	RNF13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988545	NM_183381.3(RNF13):c.806C>T (p.Pro269Leu)	RNF13 (P138L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2980404	NM_183381.3(RNF13):c.605T>C (p.Met202Thr)	RNF13 (M202T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2977786	NM_183381.3(RNF13):c.670A>G (p.Lys224Glu)	RNF13 (K105E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2972526	NM_183381.3(RNF13):c.510T>C (p.Leu170=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971552	NM_183381.3(RNF13):c.921A>C (p.Glu307Asp)	RNF13 (E188D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2970241	NM_183381.3(RNF13):c.354A>T (p.Ala118=)	RNF13	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2966413	NM_183381.3(RNF13):c.387C>A (p.Leu129=)	RNF13 (S7*)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2964783	NM_183381.3(RNF13):c.1128C>T (p.Asn376=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964054	NM_183381.3(RNF13):c.870C>T (p.Gly290=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960034	NM_183381.3(RNF13):c.781+14C>T	RNF13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904517	NM_183381.3(RNF13):c.405C>T (p.Asn135=)	RNF13 (T13M)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2897437	NM_183381.3(RNF13):c.16G>C (p.Gly6Arg)	RNF13 (G6R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2892675	NM_183381.3(RNF13):c.321+8T>A	RNF13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881554	NM_183381.3(RNF13):c.41A>G (p.Gln14Arg)	RNF13 (Q14R)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2875366	NM_183381.3(RNF13):c.487A>G (p.Thr163Ala)	RNF13 (T32A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2874551	NM_183381.3(RNF13):c.25A>G (p.Met9Val)	RNF13 (M9V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2873513	NM_183381.3(RNF13):c.694A>G (p.Lys232Glu)	RNF13 (K232E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2873446	NM_183381.3(RNF13):c.453T>C (p.Gly151=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872415	NM_183381.3(RNF13):c.528T>C (p.Phe176=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2867094	NM_183381.3(RNF13):c.489A>T (p.Thr163=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2851750	NM_183381.3(RNF13):c.500+7A>C	RNF13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849105	NM_183381.3(RNF13):c.273C>T (p.Gly91=)	RNF13	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2846613	NM_183381.3(RNF13):c.560T>C (p.Phe187Ser)	RNF13 (F56S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2825500	NM_183381.3(RNF13):c.735T>C (p.Asp245=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2815265	NM_183381.3(RNF13):c.854_855del (p.Val285fs)	RNF13 (V166fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2811456	NM_183381.3(RNF13):c.738G>A (p.Glu246=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2810992	NM_183381.3(RNF13):c.1113T>C (p.Gly371=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2795654	NM_183381.3(RNF13):c.410-18C>G	RNF13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792613	NM_183381.3(RNF13):c.1117C>G (p.Arg373Gly)	RNF13 (R254G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2787910	NM_183381.3(RNF13):c.333A>G (p.Ala111=)	RNF13	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2785206	NM_183381.3(RNF13):c.680C>G (p.Pro227Arg)	RNF13 (P108R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2784162	NM_183381.3(RNF13):c.321G>C (p.Lys107Asn)	RNF13 (K107N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2783681	NM_183381.3(RNF13):c.453T>G (p.Gly151=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2779689	NM_183381.3(RNF13):c.960C>G (p.Ala320=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2778159	NM_183381.3(RNF13):c.50C>T (p.Thr17Ile)	RNF13 (T17I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2770388	NM_183381.3(RNF13):c.927C>A (p.Thr309=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2769745	NM_183381.3(RNF13):c.687del (p.His229fs)	RNF13 (H229fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2767383	NM_183381.3(RNF13):c.880_885del (p.292SD[1])	RNF13	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2759550	NM_183381.3(RNF13):c.858T>C (p.Val286=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2752400	NM_183381.3(RNF13):c.471T>C (p.Ser157=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2746596	NM_183381.3(RNF13):c.1045A>C (p.Thr349Pro)	RNF13 (T349P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2720710	NM_183381.3(RNF13):c.513_514dup (p.Leu172fs)	RNF13 (L41fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2718093	NM_183381.3(RNF13):c.622C>T (p.Gln208Ter)	RNF13 (Q77* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2709825	NM_183381.3(RNF13):c.778C>T (p.His260Tyr)	RNF13 (H260Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2707136	NM_183381.3(RNF13):c.1039G>A (p.Glu347Lys)	RNF13 (E216K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2706046	NM_183381.3(RNF13):c.700+5G>A	RNF13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2705077	NM_183381.3(RNF13):c.114+5G>T	RNF13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2698693	NM_183381.3(RNF13):c.700+6dup	RNF13	Duplication (intron variant)	not provided	GLikely benign
Select item 2697701	NM_183381.3(RNF13):c.1024G>C (p.Glu342Gln)	RNF13 (E342Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2693606	NM_183381.3(RNF13):c.15A>G (p.Ile5Met)	RNF13 (I5M)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2654225	NM_183381.3(RNF13):c.409+17C>T	RNF13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2629938	NM_183381.3(RNF13):c.1087G>A (p.Val363Ile)	RNF13 (V232I +2 more)	Single nucleotide variant (missense variant +1 more)	RNF13-related condition	GUncertain significance
Select item 2612980	NM_183381.3(RNF13):c.896G>A (p.Ser299Asn)	RNF13 (S299N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585441	NM_183381.3(RNF13):c.106A>G (p.Ile36Val)	RNF13 (I36V)	Single nucleotide variant (missense variant +3 more)	Developmental and epileptic encephalopathy, 73	GUncertain significance
Select item 2581970	NM_183381.3(RNF13):c.46T>C (p.Tyr16His)	RNF13 (Y16H)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2474768	NM_183381.3(RNF13):c.274A>T (p.Thr92Ser)	RNF13 (T92S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2425708	NC_000003.11:g.(?_149677823)_(149678891_?)del	RNF13	Deletion	not provided	GUncertain significance
Select item 2421667	NM_183381.3(RNF13):c.1009G>C (p.Glu337Gln)	RNF13 (E206Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2374666	NM_183381.3(RNF13):c.89T>A (p.Leu30Gln)	RNF13 (L30Q)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2274229	NM_183381.3(RNF13):c.370G>A (p.Val124Ile)	RNF13 (M1I +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2256886	NM_183381.3(RNF13):c.662A>G (p.Asp221Gly)	RNF13 (D102G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2177737	NM_183381.3(RNF13):c.233_234insGGC (p.Glu78_Pro79insAla)	RNF13	Insertion (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2177014	NM_183381.3(RNF13):c.708G>T (p.Glu236Asp)	RNF13 (E105D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2129271	NM_183381.3(RNF13):c.410-4A>G	RNF13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2128459	NM_183381.3(RNF13):c.917C>T (p.Thr306Ile)	RNF13 (T187I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2126986	NM_183381.3(RNF13):c.99A>G (p.Glu33=)	RNF13	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2116279	NM_183381.3(RNF13):c.410-7T>C	RNF13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114177	NM_183381.3(RNF13):c.828A>C (p.Lys276Asn)	RNF13 (K276N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2091471	NM_183381.3(RNF13):c.321+1G>C	RNF13	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2088181	NM_183381.3(RNF13):c.1032C>T (p.Asp344=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2071963	NM_183381.3(RNF13):c.953T>G (p.Val318Gly)	RNF13 (V318G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2071835	NM_183381.3(RNF13):c.283G>T (p.Val95Leu)	RNF13 (V95L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2067737	NM_183381.3(RNF13):c.845A>T (p.Lys282Met)	RNF13 (K282M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2045405	NM_183381.3(RNF13):c.757C>T (p.Leu253Phe)	RNF13 (L122F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2037873	NM_183381.3(RNF13):c.807T>C (p.Pro269=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2035355	NM_183381.3(RNF13):c.322-6T>G	RNF13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2025070	NM_183381.3(RNF13):c.782-14T>C	RNF13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995831	NM_183381.3(RNF13):c.44T>A (p.Val15Asp)	RNF13 (V15D)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1977872	NM_183381.3(RNF13):c.238A>G (p.Ile80Val)	RNF13 (I80V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1977363	NM_183381.3(RNF13):c.1061C>G (p.Ala354Gly)	RNF13 (A223G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1957922	NM_183381.3(RNF13):c.489A>G (p.Thr163=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1955290	NM_183381.3(RNF13):c.795G>A (p.Lys265=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1955133	NM_183381.3(RNF13):c.753C>A (p.Asp251Glu)	RNF13 (D120E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1954546	NM_183381.3(RNF13):c.916A>G (p.Thr306Ala)	RNF13 (T175A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1948268	NM_183381.3(RNF13):c.1086T>C (p.Asp362=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1940487	NM_183381.3(RNF13):c.114+9A>G	RNF13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940027	NM_183381.3(RNF13):c.427A>G (p.Ile143Val)	RNF13 (I143V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1932935	NM_183381.3(RNF13):c.607-13C>G	RNF13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926869	NM_183381.3(RNF13):c.199T>G (p.Phe67Val)	RNF13 (F67V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1926226	NM_183381.3(RNF13):c.410-6A>G	RNF13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918894	NM_183381.3(RNF13):c.1022A>G (p.Tyr341Cys)	RNF13 (Y222C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917331	NM_183381.3(RNF13):c.556C>T (p.Pro186Ser)	RNF13 (P55S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1916944	NM_183381.3(RNF13):c.511A>T (p.Ile171Phe)	RNF13 (I52F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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