ClinVar for Gene (Select 5993) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362560	NM_001025603.2(RFX5):c.1025del (p.Pro342fs)	RFX5 (P302fs +1 more)	Deletion (frameshift variant)	MHC class II deficiency 3	GLikely pathogenic
Select item 3313941	NM_001025603.2(RFX5):c.1481A>G (p.Gln494Arg)	RFX5 (Q494R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313940	NM_001025603.2(RFX5):c.1112C>G (p.Ala371Gly)	RFX5 (A331G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247711	NC_000001.10:g.(?_151314662)_(151666077_?)del	CGN, POGZ +5 more	Deletion	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3236741	NM_001025603.2(RFX5):c.1239_1240del (p.Asn414fs)	RFX5 (N374fs +1 more)	Microsatellite (frameshift variant)	MHC class II deficiency 3	GPathogenic
Select item 3234424	NM_001025603.2(RFX5):c.618C>T (p.Ala206=)	RFX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3153490	NM_001025603.2(RFX5):c.452T>C (p.Leu151Pro)	RFX5 (L111P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153489	NM_001025603.2(RFX5):c.1822C>T (p.His608Tyr)	RFX5 (H568Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153488	NM_001025603.2(RFX5):c.1582G>A (p.Ala528Thr)	RFX5 (A488T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153487	NM_001025603.2(RFX5):c.1487C>T (p.Ser496Leu)	RFX5 (S496L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153486	NM_001025603.2(RFX5):c.1220C>A (p.Thr407Asn)	RFX5 (T367N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3051084	NM_001025603.2(RFX5):c.353+9A>T	RFX5	Single nucleotide variant (intron variant)	RFX5-related disorder	GLikely benign
Select item 3022717	NM_001025603.2(RFX5):c.1697G>A (p.Ser566Asn)	RFX5 (S526N +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 3013107	NM_001025603.2(RFX5):c.150+15G>A	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 3010700	NM_001025603.2(RFX5):c.69G>A (p.Glu23=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2995578	NM_001025603.2(RFX5):c.1499G>A (p.Trp500Ter)	RFX5 (W460* +1 more)	Single nucleotide variant (nonsense)	MHC class II deficiency	GPathogenic
Select item 2989016	NM_001025603.2(RFX5):c.844G>C (p.Glu282Gln)	RFX5 (E242Q +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2981568	NM_001025603.2(RFX5):c.1408C>T (p.Arg470Ter)	RFX5 (R430* +1 more)	Single nucleotide variant (nonsense)	MHC class II deficiency	GPathogenic
Select item 2976887	NM_001025603.2(RFX5):c.612G>C (p.Ala204=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2975475	NM_001025603.2(RFX5):c.592G>A (p.Asp198Asn)	RFX5 (D198N +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2974397	NM_001025603.2(RFX5):c.1754T>G (p.Val585Gly)	RFX5 (V545G +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2971867	NM_001025603.2(RFX5):c.556-17G>A	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2971547	NM_001025603.2(RFX5):c.858+9G>A	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2961378	NM_001025603.2(RFX5):c.1104T>C (p.Ser368=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2917272	NM_001025603.2(RFX5):c.150+13G>T	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2911310	NM_001025603.2(RFX5):c.234-6C>G	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2897197	NM_001025603.2(RFX5):c.1041T>C (p.Ser347=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2893387	NM_001025603.2(RFX5):c.1051C>T (p.Leu351=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2885694	NM_001025603.2(RFX5):c.891C>T (p.Ala297=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2883720	NM_001025603.2(RFX5):c.859-13C>G	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2881208	NM_001025603.2(RFX5):c.1783T>C (p.Leu595=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2878826	NM_001025603.2(RFX5):c.1058C>G (p.Pro353Arg)	RFX5 (P313R +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2873523	NM_001025603.2(RFX5):c.922A>G (p.Ser308Gly)	RFX5 (S268G +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2854392	NM_001025603.2(RFX5):c.1008_1014del (p.Pro337fs)	RFX5 (P297fs +1 more)	Deletion (frameshift variant)	MHC class II deficiency	GPathogenic
Select item 2853561	NM_001025603.2(RFX5):c.1059del (p.Arg354fs)	RFX5 (R354fs +1 more)	Deletion (frameshift variant)	MHC class II deficiency	GPathogenic
Select item 2837609	NM_001025603.2(RFX5):c.97A>G (p.Arg33Gly)	RFX5 (R33G)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2812310	NM_001025603.2(RFX5):c.1266C>T (p.Asp422=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2809942	NM_001025603.2(RFX5):c.582del (p.Ala195fs)	RFX5 (A155fs +1 more)	Deletion (frameshift variant)	MHC class II deficiency	GPathogenic
Select item 2808991	NM_001025603.2(RFX5):c.172del (p.Asp58fs)	RFX5 (D58fs)	Deletion (frameshift variant)	MHC class II deficiency	GPathogenic
Select item 2796587	NM_001025603.2(RFX5):c.635C>T (p.Ala212Val)	RFX5 (A212V +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2790992	NM_001025603.2(RFX5):c.116+16A>G	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2788885	NM_001025603.2(RFX5):c.233+14T>C	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2784221	NM_001025603.2(RFX5):c.495G>A (p.Arg165=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2784073	NM_001025603.2(RFX5):c.473+2T>C	RFX5	Single nucleotide variant (splice donor variant)	MHC class II deficiency	GLikely pathogenic
Select item 2776688	NM_001025603.2(RFX5):c.392G>A (p.Ser131Asn)	RFX5 (S91N +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2768755	NM_001025603.2(RFX5):c.1263T>C (p.Gly421=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2761512	NM_001025603.2(RFX5):c.859-8C>A	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2751062	NM_001025603.2(RFX5):c.1033C>A (p.Pro345Thr)	RFX5 (P305T +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2733985	NM_001025603.2(RFX5):c.961C>T (p.Gln321Ter)	RFX5 (Q281* +1 more)	Single nucleotide variant (nonsense)	MHC class II deficiency	GPathogenic
Select item 2724697	NM_001025603.2(RFX5):c.124G>A (p.Val42Met)	RFX5 (V42M)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2713039	NM_001025603.2(RFX5):c.757+19A>C	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2711466	NM_001025603.2(RFX5):c.150+7G>A	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2706050	NM_001025603.2(RFX5):c.809T>G (p.Leu270Ter)	RFX5 (L230* +1 more)	Single nucleotide variant (nonsense)	MHC class II deficiency	GPathogenic
Select item 2682177	NM_001025603.2(RFX5):c.117-1G>T	RFX5	Single nucleotide variant (splice acceptor variant)	MHC class II deficiency	GLikely pathogenic
Select item 2636809	NM_001025603.2(RFX5):c.1569G>T (p.Glu523Asp)	RFX5 (E483D +1 more)	Single nucleotide variant (missense variant)	RFX5-related disorder	GUncertain significance
Select item 2634797	NM_001025603.2(RFX5):c.1391G>A (p.Arg464Lys)	RFX5 (R424K +1 more)	Single nucleotide variant (missense variant)	RFX5-related disorder	GUncertain significance
Select item 2628868	NM_001025603.2(RFX5):c.103C>T (p.Arg35Ter)	RFX5 (R35*)	Single nucleotide variant (nonsense)	RFX5-related disorder	GLikely pathogenic
Select item 2628863	NM_001025603.2(RFX5):c.555+1G>A	RFX5	Single nucleotide variant (splice donor variant)	RFX5-related disorder	GLikely pathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2498413	NM_001025603.2(RFX5):c.616G>C (p.Ala206Pro)	RFX5 (A166P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2445905	NM_001025603.2(RFX5):c.233+1G>T	RFX5	Single nucleotide variant (splice donor variant)	MHC class II deficiency	GLikely pathogenic
Select item 2416653	NM_001025603.2(RFX5):c.544G>A (p.Gly182Ser)	RFX5 (G142S +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2413747	NM_001025603.2(RFX5):c.1026G>A (p.Pro342=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2280545	NM_001025603.2(RFX5):c.670G>A (p.Val224Ile)	RFX5 (V224I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271088	NM_001025603.2(RFX5):c.1579G>C (p.Gly527Arg)	RFX5 (G487R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251651	NM_001025603.2(RFX5):c.347C>T (p.Ala116Val)	RFX5 (A116V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241055	NM_001025603.2(RFX5):c.1244G>C (p.Arg415Thr)	RFX5 (R375T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2201645	NM_001025603.2(RFX5):c.1229G>A (p.Arg410Gln)	RFX5 (R410Q +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2199159	NM_001025603.2(RFX5):c.234-9T>C	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2194557	NM_001025603.2(RFX5):c.316A>G (p.Thr106Ala)	RFX5 (T106A)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 2191883	NM_001025603.2(RFX5):c.354-13C>T	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2188570	NM_001025603.2(RFX5):c.1114G>A (p.Gly372Arg)	RFX5 (G372R +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2183097	NM_001025603.2(RFX5):c.683G>A (p.Arg228His)	RFX5 (R228H +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2182525	NM_001025603.2(RFX5):c.958C>T (p.Leu320=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2182085	NM_001025603.2(RFX5):c.436A>C (p.Ile146Leu)	RFX5 (I106L +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2180143	NM_001025603.2(RFX5):c.1063C>G (p.Leu355Val)	RFX5 (L355V +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2178174	NM_001025603.2(RFX5):c.1387A>G (p.Lys463Glu)	RFX5 (K463E +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency +1 more	GUncertain significance
Select item 2166316	NM_001025603.2(RFX5):c.779G>A (p.Arg260Gln)	RFX5 (R260Q +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2156804	NM_001025603.2(RFX5):c.367_368del (p.Leu124fs)	RFX5 (L84fs +1 more)	Microsatellite (frameshift variant)	MHC class II deficiency	GPathogenic
Select item 2154274	NM_001025603.2(RFX5):c.1013G>A (p.Arg338His)	RFX5 (R298H +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2153991	NM_001025603.2(RFX5):c.1348G>A (p.Ala450Thr)	RFX5 (A410T +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2153421	NM_001025603.2(RFX5):c.1521G>A (p.Gly507=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2151896	NM_001025603.2(RFX5):c.715C>T (p.Arg239Ter)	RFX5 (R199* +1 more)	Single nucleotide variant (nonsense)	MHC class II deficiency	GPathogenic
Select item 2147008	NM_001025603.2(RFX5):c.757+20T>C	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GBenign
Select item 2141527	NM_001025603.2(RFX5):c.1113C>T (p.Ala371=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2140970	NM_001025603.2(RFX5):c.1012C>T (p.Arg338Cys)	RFX5 (R338C +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2140967	NM_001025603.2(RFX5):c.56C>A (p.Pro19Gln)	RFX5 (P19Q)	Single nucleotide variant (missense variant)	MHC class II deficiency +1 more	GUncertain significance
Select item 2130286	NM_001025603.2(RFX5):c.473A>G (p.Lys158Arg)	RFX5 (K158R +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2127385	NM_001025603.2(RFX5):c.1715G>A (p.Arg572Lys)	RFX5 (R572K +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2126438	NM_001025603.2(RFX5):c.683G>C (p.Arg228Pro)	RFX5 (R228P +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2114173	NM_001025603.2(RFX5):c.1374dup (p.Ala459fs)	RFX5 (A459fs +1 more)	Duplication (frameshift variant)	MHC class II deficiency	GPathogenic
Select item 2105178	NM_001025603.2(RFX5):c.1526G>A (p.Gly509Asp)	RFX5 (G509D +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2104792	NM_001025603.2(RFX5):c.757+1G>A	RFX5	Single nucleotide variant (splice donor variant)	MHC class II deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2096239	NM_001025603.2(RFX5):c.1420G>C (p.Gly474Arg)	RFX5 (G434R +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2096008	NM_001025603.2(RFX5):c.55_56dup (p.Gly20fs)	RFX5 (G20fs)	Duplication (frameshift variant)	MHC class II deficiency	GPathogenic
Select item 2088089	NM_001025603.2(RFX5):c.944C>T (p.Pro315Leu)	RFX5 (P275L +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2075321	NM_001025603.2(RFX5):c.1188T>G (p.Pro396=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2069587	NM_001025603.2(RFX5):c.49G>T (p.Ala17Ser)	RFX5 (A17S)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance

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