ClinVar for Gene (Select 8318) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068440	NM_003504.5(CDC45):c.204G>A (p.Gln68=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	Meier-Gorlin syndrome 7	GLikely pathogenic
Select item 3050041	NM_003504.5(CDC45):c.1417C>T (p.Leu473=)	CDC45	Single nucleotide variant (synonymous variant)	CDC45-related condition	GLikely benign
Select item 3017941	NM_003504.5(CDC45):c.384C>T (p.Pro128=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015581	NM_003504.5(CDC45):c.112-12CT[3]	CDC45	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3015012	NM_003504.5(CDC45):c.653+11C>T	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010292	NM_003504.5(CDC45):c.165G>A (p.Trp55Ter)	CDC45 (W43* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3002762	NM_003504.5(CDC45):c.542+161G>A	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991575	NM_003504.5(CDC45):c.542+170C>T	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957040	NM_003504.5(CDC45):c.1636+14G>T	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955991	NM_003504.5(CDC45):c.1357-19A>T	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900765	NM_003504.5(CDC45):c.829C>T (p.Arg277Cys)	CDC45 (R309C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894995	NM_003504.5(CDC45):c.654-10C>T	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892288	NM_003504.5(CDC45):c.219T>C (p.Ile73=)	CDC45	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2871694	NM_003504.5(CDC45):c.957-10C>T	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845718	NM_003504.5(CDC45):c.957-14C>T	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839884	NM_003504.5(CDC45):c.345C>T (p.Ile115=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2831571	NM_003504.5(CDC45):c.1473G>C (p.Leu491=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2801992	NM_003504.5(CDC45):c.754C>G (p.His252Asp)	CDC45 (H240D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2780452	NM_003504.5(CDC45):c.1279C>T (p.Gln427Ter)	CDC45 (Q459* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2778051	NM_003504.5(CDC45):c.204+14G>A	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747512	NM_003504.5(CDC45):c.870del (p.Cys291fs)	CDC45 (C291fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2685672	GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1	RTL10, RTN4R +45 more	Copy number loss	not provided	GPathogenic
Select item 2684927	GRCh37/hg19 22q11.21(chr22:18916843-20716903)x3	ARVCF, C22orf39 +30 more	Copy number gain	not provided	GPathogenic
Select item 2672921	GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 2663892	GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3	AIFM3, ARVCF +174 more	Copy number gain	Microcephaly-digital anomalies-intellectual disability syndrome	GPathogenic
Select item 2652864	NM_003504.5(CDC45):c.1515C>T (p.Thr505=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2617810	NM_003504.5(CDC45):c.590C>T (p.Ser197Leu)	CDC45 (S229L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2580321	GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1	ARVCF, C22orf39 +27 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2580309	GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3	AIFM3, ARVCF +45 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal +1 more	GPathogenic
Select item 2580291	GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3	ARVCF, C22orf39 +30 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2579266	GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1	AIFM3, ARVCF +169 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2577585	NM_003504.5(CDC45):c.805C>T (p.Arg269Trp)	CDC45 (R223W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574689	GRCh37/hg19 22q11.21(chr22:18916842-20311810)	ARVCF, C22orf39 +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2574134	NC_000022.11:g.18948676_21110520del	LOC130066999, LOC130067004 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 2572172	NC_000022.11:g.18948676_21110520dup	LOC130066967, TSSK2 +170 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	ESS2, GGTLC3 +45 more	Copy number loss	not provided	GPathogenic
Select item 2552177	NM_003504.5(CDC45):c.248T>C (p.Leu83Pro)	CDC45 (L71P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2547456	NM_003504.5(CDC45):c.908G>T (p.Trp303Leu)	CDC45 (W257L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535267	NM_003504.5(CDC45):c.1118C>T (p.Ala373Val)	CDC45 (A361V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532374	NM_003504.5(CDC45):c.542+148C>A	CDC45 (A189D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514615	NM_003504.5(CDC45):c.1168G>T (p.Asp390Tyr)	CDC45 (D344Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 2445211	Single allele	ZDHHC8, C22orf39 +45 more	Deletion	See cases	GPathogenic
Select item 2430750	NM_003504.5(CDC45):c.382C>G (p.Pro128Ala)	CDC45 (P116A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2424095	NC_000022.10:g.(?_17565982)_(20052185_?)del	ADA2, ARVCF +35 more	Deletion	Immunodeficiency 51 +1 more	GPathogenic
Select item 2421573	NM_003504.5(CDC45):c.1412A>G (p.Lys471Arg)	CDC45 (K425R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418770	NM_003504.5(CDC45):c.1441-11C>T	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2409034	NM_003504.5(CDC45):c.1069C>T (p.Arg357Cys)	CDC45 (R311C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315818	NM_003504.5(CDC45):c.1661G>C (p.Arg554Pro)	CDC45 (R586P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294180	NM_003504.5(CDC45):c.890C>T (p.Ala297Val)	CDC45 (A251V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293690	NM_003504.5(CDC45):c.839T>C (p.Leu280Pro)	CDC45 (L234P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287362	NM_003504.5(CDC45):c.196A>G (p.Lys66Glu)	CDC45 (K66E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259674	NM_003504.5(CDC45):c.1315G>A (p.Val439Ile)	CDC45 (V439I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249493	NM_003504.5(CDC45):c.364G>A (p.Asp122Asn)	CDC45 (D110N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237007	NM_003504.5(CDC45):c.542+150G>A	CDC45 (A190T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228573	NM_003504.5(CDC45):c.1267C>G (p.Leu423Val)	CDC45 (L423V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210521	NM_003504.5(CDC45):c.821A>T (p.Tyr274Phe)	CDC45 (Y228F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2197053	NM_003504.5(CDC45):c.1357-4G>A	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2195684	NM_003504.5(CDC45):c.714C>T (p.Tyr238=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2190810	NM_003504.5(CDC45):c.1470C>T (p.Pro490=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2180890	NM_003504.5(CDC45):c.454G>C (p.Glu152Gln)	CDC45 (E152Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2176558	NM_003504.5(CDC45):c.1504G>A (p.Gly502Ser)	CDC45 (G534S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2173774	NM_003504.5(CDC45):c.704+7A>G	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2168401	NM_003504.5(CDC45):c.1575G>A (p.Ala525=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2167871	NM_003504.5(CDC45):c.661A>G (p.Ile221Val)	CDC45 (I175V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2166477	NM_003504.5(CDC45):c.314A>G (p.Asn105Ser)	CDC45 (N93S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2158250	NM_003504.5(CDC45):c.653+4C>T	CDC45	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2133387	NM_003504.5(CDC45):c.654-12C>G	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2121658	NM_003504.5(CDC45):c.1680A>G (p.Ala560=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2113883	NM_003504.5(CDC45):c.52-2A>G	CDC45	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2101864	NM_003504.5(CDC45):c.1592A>G (p.Glu531Gly)	CDC45 (E563G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2092230	NM_003504.5(CDC45):c.51+11G>A	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2085627	NM_003504.5(CDC45):c.1180del (p.Thr394fs)	CDC45 (T348fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2084579	NM_003504.5(CDC45):c.153A>G (p.Pro51=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2082662	NM_003504.5(CDC45):c.542+189A>G	CDC45 (M203V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072795	NM_003504.5(CDC45):c.591G>A (p.Ser197=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2071862	NM_003504.5(CDC45):c.1453C>T (p.Arg485Cys)	CDC45 (R439C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2062400	NM_003504.5(CDC45):c.519G>T (p.Gln173His)	CDC45 (Q127H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2061250	NM_003504.5(CDC45):c.825-12C>T	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2021022	NM_003504.5(CDC45):c.121del (p.Gln41fs)	CDC45 (Q41fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2016751	NM_003504.5(CDC45):c.1217+6A>T	CDC45	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2003624	NM_003504.5(CDC45):c.600G>A (p.Met200Ile)	CDC45 (M232I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1990895	NM_003504.5(CDC45):c.745G>A (p.Val249Ile)	CDC45 (V249I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1989513	NM_003504.5(CDC45):c.1440+15G>A	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988583	NM_003504.5(CDC45):c.1056-13G>T	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1985375	NM_003504.5(CDC45):c.1450C>T (p.Arg484Trp)	CDC45 (R472W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1984691	NM_003504.5(CDC45):c.1271G>A (p.Arg424Gln)	CDC45 (R412Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984606	NM_003504.5(CDC45):c.339C>T (p.Thr113=)	CDC45	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1983891	NM_003504.5(CDC45):c.1560-12G>A	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1983852	NM_003504.5(CDC45):c.795G>A (p.Val265=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1982115	NM_003504.5(CDC45):c.975G>A (p.Val325=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1980473	NM_003504.5(CDC45):c.1072G>A (p.Val358Met)	CDC45 (V346M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1968291	NM_003504.5(CDC45):c.542+8T>A	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966893	NM_003504.5(CDC45):c.930G>A (p.Arg310=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1962655	NM_003504.5(CDC45):c.1489_1490del (p.Leu497fs)	CDC45 (L451fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1960766	NM_003504.5(CDC45):c.1095T>C (p.Phe365=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1956681	NM_003504.5(CDC45):c.486+9G>A	CDC45	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950148	NM_003504.5(CDC45):c.112-9T>C	CDC45	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1942014	NM_003504.5(CDC45):c.793G>A (p.Val265Met)	CDC45 (V253M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1925672	NM_003504.5(CDC45):c.24A>G (p.Lys8=)	CDC45	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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