ClinVar for Gene (Select 5962) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364602	NM_002906.4(RDX):c.1348T>C (p.Phe450Leu)	RDX (F103L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360086	NM_002906.4(RDX):c.1344+4A>G	RDX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3359727	NM_002906.4(RDX):c.263A>G (p.Asp88Gly)	RDX (D56G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3313472	NM_002906.4(RDX):c.1176G>T (p.Glu392Asp)	RDX (E256D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3239309	NM_002906.4(RDX):c.1181G>A (p.Arg394Gln)	RDX (R258Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3236793	NM_002906.4(RDX):c.134T>C (p.Phe45Ser)	RDX (F45S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 3152812	NM_002906.4(RDX):c.19G>A (p.Val7Ile)	RDX (V7I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3152810	NM_002906.4(RDX):c.1543G>A (p.Val515Ile)	RDX (V168I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3152809	NM_002906.4(RDX):c.1303A>G (p.Lys435Glu)	RDX (K299E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3075946	NM_002906.4(RDX):c.1324G>A (p.Ala442Thr)	RDX (A306T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3075934	NM_002906.4(RDX):c.1180C>T (p.Arg394Ter)	RDX (R258* +2 more)	Single nucleotide variant (nonsense +1 more)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3075837	NM_002906.4(RDX):c.1557G>C (p.Gln519His)	RDX (Q172H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3075836	NM_002906.4(RDX):c.1412C>A (p.Pro471His)	RDX (P124H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3061950	NM_002906.4(RDX):c.295C>T (p.Gln99Ter)	RDX (Q67* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely pathogenic
Select item 3058467	NM_002906.4(RDX):c.1588-7dup	RDX	Duplication (intron variant)	RDX-related disorder	GLikely benign
Select item 3044989	NM_002906.4(RDX):c.846C>T (p.Ala282=)	RDX	Single nucleotide variant (synonymous variant +1 more)	RDX-related disorder	GLikely benign
Select item 3030347	NC_000011.10:g.110199605C>G	RDX	Single nucleotide variant (3 prime UTR variant)	RDX-related disorder	GLikely benign
Select item 3021805	NM_002906.4(RDX):c.1314G>A (p.Lys438=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3021182	NM_002906.4(RDX):c.1077T>C (p.Ile359=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2997802	NM_002906.4(RDX):c.192+12A>G	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980520	NM_002906.4(RDX):c.959+8G>T	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955794	NM_002906.4(RDX):c.1251+13C>G	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863763	NM_002906.4(RDX):c.930_931del (p.Glu311fs)	RDX (E175fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2786969	NM_002906.4(RDX):c.1305G>A (p.Lys435=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2663362	NM_002906.4(RDX):c.394G>A (p.Ala132Thr)	RDX (A100T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2621313	NM_002906.4(RDX):c.889C>G (p.Pro297Ala)	RDX (P161A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592183	NM_002906.4(RDX):c.1109G>A (p.Arg370Gln)	RDX (R23Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585105	NM_002906.4(RDX):c.1076_1079del (p.Ile359fs)	RDX (I359fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely pathogenic
Select item 2549129	NM_002906.4(RDX):c.1075A>G (p.Ile359Val)	RDX (I223V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2526784	NM_002906.4(RDX):c.425A>G (p.His142Arg)	RDX (H110R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523963	NM_002906.4(RDX):c.376G>C (p.Ala126Pro)	RDX (A126P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522699	NM_002906.4(RDX):c.1136G>A (p.Arg379Gln)	RDX (R32Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512203	NM_002906.4(RDX):c.119G>A (p.Arg40His)	RDX (R40H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2502096	NM_002906.4(RDX):c.1384G>C (p.Glu462Gln)	RDX (E115Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2501372	NM_002906.4(RDX):c.1522C>T (p.His508Tyr)	RDX (H161Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2498534	NM_002906.4(RDX):c.720del (p.Trp242fs)	RDX (W106fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2494198	NM_002906.4(RDX):c.830A>G (p.Asn277Ser)	RDX (N141S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490977	NM_002906.4(RDX):c.158A>G (p.Lys53Arg)	RDX (K53R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2428636	NM_002906.4(RDX):c.1501T>C (p.Ser501Pro)	RDX (S154P +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 2418984	NM_002906.4(RDX):c.484_487del (p.His161_Lys162insTer)	RDX	Deletion (nonsense +1 more)	not provided	GPathogenic
Select item 2383964	NM_002906.4(RDX):c.1253C>T (p.Ala418Val)	RDX (A71V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274857	NM_002906.4(RDX):c.131T>G (p.Phe44Cys)	RDX (F44C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274150	NM_002906.4(RDX):c.436T>C (p.Tyr146His)	RDX (Y114H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271307	NM_002906.4(RDX):c.1706G>A (p.Arg569Gln)	RDX (R222Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215171	NM_002906.4(RDX):c.836G>A (p.Arg279Gln)	RDX (R143Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2197025	NM_002906.4(RDX):c.1005G>A (p.Lys335=)	RDX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2181983	NM_002906.4(RDX):c.466C>T (p.Arg156Cys)	RDX (R124C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2124387	NM_002906.4(RDX):c.989G>C (p.Arg330Thr)	RDX (R330T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2090492	NM_002906.4(RDX):c.399G>A (p.Lys133=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2038747	NM_002906.4(RDX):c.1417C>T (p.Pro473Ser)	RDX (P337S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2000410	NM_002906.4(RDX):c.764T>G (p.Phe255Cys)	RDX (F119C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1989650	NM_002906.4(RDX):c.693C>T (p.Asp231=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1989460	NM_002906.4(RDX):c.354G>A (p.Pro118=)	RDX	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1965656	NM_002906.4(RDX):c.387T>C (p.Ala129=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1942867	NM_002906.4(RDX):c.1410C>T (p.Pro470=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1926917	NM_002906.4(RDX):c.648G>A (p.Leu216=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1915154	NM_002906.4(RDX):c.1452C>T (p.Asn484=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1914263	NM_002906.4(RDX):c.1473G>A (p.Glu491=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1806659	NM_002906.4(RDX):c.413A>G (p.Asn138Ser)	RDX (N106S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1803398	NM_002906.4(RDX):c.1688A>G (p.Lys563Arg)	RDX (K159R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802039	NM_002906.4(RDX):c.236A>G (p.Lys79Arg)	RDX (K47R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1706383	NM_002906.4(RDX):c.401A>G (p.Tyr134Cys)	RDX (Y102C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703468	NM_002906.4(RDX):c.1568G>A (p.Arg523His)	RDX (R176H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1698704	NM_002906.4(RDX):c.1346del (p.Ala449fs)	RDX (A102fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GPathogenic
Select item 1694647	NM_002906.4(RDX):c.652C>T (p.Leu218=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1691806	NM_002906.4(RDX):c.766G>C (p.Val256Leu)	RDX (V120L +1 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1683958	NM_002906.4(RDX):c.796-39C>G	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674057	NM_002906.4(RDX):c.698+16G>T	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1669590	NM_002906.4(RDX):c.1588-16T>C	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644312	NM_002906.4(RDX):c.1365C>T (p.Asp455=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1583953	NM_002906.4(RDX):c.467+15C>A	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1576464	NM_002906.4(RDX):c.123G>A (p.Glu41=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1558036	NM_002906.4(RDX):c.959+13T>C	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528974	NM_002906.4(RDX):c.698+19T>C	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527668	GRCh37/hg19 11q22.3(chr11:110130586-110269484)	RDX	Copy number gain	not specified	GUncertain significance
Select item 1421978	NM_002906.4(RDX):c.1497A>T (p.Glu499Asp)	RDX (E152D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1396029	NM_002906.4(RDX):c.761A>T (p.Lys254Ile)	RDX (K254I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1388912	NM_002906.4(RDX):c.146A>G (p.Tyr49Cys)	RDX (Y49C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1388586	NM_002906.4(RDX):c.1421C>T (p.Pro474Leu)	RDX (P474L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1377095	NM_002906.4(RDX):c.339T>G (p.Asp113Glu)	RDX (D113E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1345018	NM_002906.4(RDX):c.192+42G>A	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1334117	NM_002906.4(RDX):c.513_514del (p.Arg171fs)	RDX (R171fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely pathogenic
Select item 1333282	NM_002906.4(RDX):c.1135C>T (p.Arg379Ter)	RDX (R243* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely pathogenic
Select item 1325000	NM_002906.4(RDX):c.1141C>T (p.Arg381Ter)	RDX (R245* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely pathogenic
Select item 1282187	NM_002906.4(RDX):c.12+191G>A	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277958	NM_002906.4(RDX):c.97-235C>A	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270883	NM_002906.4(RDX):c.1587+38T>G	RDX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1247924	NM_002906.4(RDX):c.699-87T>C	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245905	NM_002906.4(RDX):c.-64-110dup	RDX	Duplication (intron variant)	not provided	GBenign
Select item 1244921	NM_002906.4(RDX):c.1090+64T>G	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243330	NM_002906.4(RDX):c.1344+78G>A	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241237	NM_002906.4(RDX):c.1345-18C>T	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239241	NM_002906.4(RDX):c.96+207T>C	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235729	NM_002906.4(RDX):c.467+77dup	RDX	Duplication (intron variant)	not provided	GBenign
Select item 1234006	NM_002906.4(RDX):c.1587+173C>T	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227775	NM_002906.4(RDX):c.1345-219_1345-218insGAC	RDX	Insertion (intron variant)	not provided	GBenign

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