"GeneDx"[submitter] AND "PAX3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146029	GRCh38/hg38 2q36.1-36.2(chr2:221663502-224426183)x1	ACSL3, ACSL3-AS1 +75 more	Copy number loss	See cases	GPathogenic
Select item 1291395	NM_181458.4(PAX3):c.*354GT[11]	PAX3	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1684057	NM_181458.4(PAX3):c.*257G>T	PAX3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1244902	NM_181458.4(PAX3):c.*257G>C	PAX3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1264428	NM_181458.4(PAX3):c.*109dup	PAX3	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1186210	NM_181458.4(PAX3):c.108_109dup	PAX3	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1216734	NM_181458.4(PAX3):c.1421-17C>T	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246737	NM_181458.4(PAX3):c.1421-76C>T	PAX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 334553	NM_181458.4(PAX3):c.1420+112dup	PAX3	Duplication (3 prime UTR variant +1 more)	Waardenburg syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1216859	NM_181458.4(PAX3):c.1420+126del	PAX3	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2442649	NM_181458.4(PAX3):c.1378A>G (p.Met460Val)	PAX3 (M459V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2503139	NM_181458.4(PAX3):c.1241dup (p.Leu415fs)	PAX3 (L414fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3364030	NM_181458.4(PAX3):c.1232C>T (p.Ala411Val)	PAX3 (A410V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1215499	NM_181458.4(PAX3):c.1174-10G>A	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 226998	NM_181458.4(PAX3):c.1174-10G>C	PAX3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1205058	NM_181458.4(PAX3):c.1174-287G>A	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196080	NM_181458.4(PAX3):c.1173+40C>T	LOC126806529, PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250844	NM_181458.4(PAX3):c.1173+26G>A	LOC126806529, PAX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310730	NM_181458.4(PAX3):c.1151T>C (p.Ile384Thr)	LOC126806529, PAX3 (I383T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 334559	NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu)	LOC126806529, PAX3 (P373L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3363730	NM_181458.4(PAX3):c.1115C>T (p.Pro372Leu)	LOC126806529, PAX3 (P371L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443446	NM_181458.4(PAX3):c.1107C>G (p.Ser369Arg)	LOC126806529, PAX3 (S368R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 783361	NM_181458.4(PAX3):c.1071C>T (p.Pro357=)	LOC126806529, PAX3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3343622	NM_181458.4(PAX3):c.1057G>T (p.Ala353Ser)	LOC126806529, PAX3 (A352S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306788	NM_181458.4(PAX3):c.1036T>C (p.Ser346Pro)	LOC126806529, PAX3 (S345P +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 3 +4 more	GUncertain significance
Select item 3342732	NM_181458.4(PAX3):c.1024A>C (p.Ser342Arg)	LOC126806529, PAX3 (S341R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504758	NM_181458.4(PAX3):c.982G>A (p.Val328Ile)	LOC126806529, PAX3 (V327I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3342303	NM_181458.4(PAX3):c.959-5T>G	LOC126806529, PAX3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1207871	NM_181458.4(PAX3):c.959-28T>C	LOC126806529, PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251800	NM_181458.4(PAX3):c.958+294G>A	LOC126806529, PAX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 218940	NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)	PAX3 (T315K +1 more)	Single nucleotide variant (missense variant)	Congenital diaphragmatic hernia +5 more	GConflicting classifications of pathogenicity
Select item 739321	NM_181458.4(PAX3):c.924G>A (p.Ser308=)	PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 226997	NM_181458.4(PAX3):c.879G>T (p.Gly293=)	PAX3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1306549	NM_181458.4(PAX3):c.874G>A (p.Gly292Arg)	PAX3 (G291R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 226996	NM_181458.4(PAX3):c.873C>T (p.Pro291=)	PAX3	Single nucleotide variant (synonymous variant)	Waardenburg syndrome +3 more	GBenign/Likely benign
Select item 505249	NM_181458.4(PAX3):c.871C>T (p.Pro291Ser)	PAX3 (P290S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1305436	NM_181458.4(PAX3):c.854C>T (p.Ala285Val)	PAX3 (A284V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423782	NM_181458.4(PAX3):c.835G>A (p.Gly279Arg)	PAX3 (G279R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620105	NM_181458.4(PAX3):c.821G>A (p.Trp274Ter)	PAX3 (W274* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 279964	NM_181458.4(PAX3):c.812G>A (p.Arg271His)	PAX3 (R271H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 547747	NM_181458.4(PAX3):c.808C>T (p.Arg270Cys)	PAX3 (R270C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 334560	NM_181458.4(PAX3):c.807C>T (p.Asn269=)	PAX3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1722963	NM_181458.4(PAX3):c.797G>A (p.Trp266Ter)	PAX3 (W265* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2573953	NM_181458.4(PAX3):c.793G>T (p.Val265Phe)	PAX3 (V264F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1278226	NM_181458.4(PAX3):c.792+88C>G	PAX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3252574	NM_181458.4(PAX3):c.792+1G>A	PAX3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 280007	NM_181458.4(PAX3):c.784C>T (p.Arg262Ter)	PAX3 (R262* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1695782	NM_181458.4(PAX3):c.731C>A (p.Pro244His)	PAX3 (P243H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514816	NM_181458.4(PAX3):c.721A>T (p.Thr241Ser)	PAX3 (T241S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 503680	NM_181458.4(PAX3):c.667C>T (p.Arg223Ter)	PAX3 (R223* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 1 +2 more	GPathogenic
Select item 1311395	NM_181458.4(PAX3):c.658C>A (p.Arg220Ser)	PAX3 (R219S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817322	NM_181458.4(PAX3):c.619dup (p.Ile207fs)	PAX3 (I207fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 392483	NM_181458.4(PAX3):c.602C>G (p.Ser201Ter)	PAX3 (S201* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1230911	NM_181458.4(PAX3):c.587-251A>G	PAX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217018	NM_181458.4(PAX3):c.586+745A>T	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237889	NM_181458.4(PAX3):c.586+729del	PAX3	Deletion (intron variant)	not provided	GBenign
Select item 1211222	NM_181458.4(PAX3):c.586+638C>A	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 432827	NM_181458.4(PAX3):c.586+427G>T	PAX3 (G202*)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1223079	NM_181458.4(PAX3):c.586+332G>A	PAX3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1269208	NM_181458.4(PAX3):c.586+233del	PAX3	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1218247	NM_181458.4(PAX3):c.586+96G>C	PAX3	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1235769	NM_181458.4(PAX3):c.586+86A>C	PAX3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 227833	NM_181458.4(PAX3):c.586+57A>G	PAX3 (S215G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 995191	NM_181458.4(PAX3):c.586+52C>A	PAX3 (S213*)	Single nucleotide variant (nonsense +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1311612	NM_181458.4(PAX3):c.586+5G>T	PAX3 (K197N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2499802	NM_181458.4(PAX3):c.586G>A (p.Ala196Thr)	PAX3 (A195T +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 488795	NM_181458.4(PAX3):c.583C>T (p.Arg195Ter)	PAX3 (R195* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 504786	NM_181458.4(PAX3):c.580G>A (p.Glu194Lys)	PAX3 (E194K +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome +6 more	GConflicting classifications of pathogenicity
Select item 229127	NM_181458.4(PAX3):c.572T>C (p.Ile191Thr)	PAX3 (I191T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 229126	NM_181458.4(PAX3):c.561C>G (p.Ser187Arg)	PAX3 (S187R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 4209	NM_181458.4(PAX3):c.558_559del (p.His186fs)	PAX3 (H185fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3342420	NM_181458.4(PAX3):c.544AAG[1] (p.Lys183del)	PAX3 (K182del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 514690	NM_181458.4(PAX3):c.528G>A (p.Glu176=)	PAX3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 226992	NM_181458.4(PAX3):c.525G>C (p.Lys175Asn)	PAX3 (K175N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 1307188	NM_181458.4(PAX3):c.467G>T (p.Arg156Leu)	PAX3 (R155L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 547740	NM_181458.4(PAX3):c.452-9C>A	PAX3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1273705	NM_181458.4(PAX3):c.452-99G>T	PAX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288558	NM_181458.4(PAX3):c.452-235C>A	PAX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196604	NM_181458.4(PAX3):c.451+211C>A	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290017	NM_181458.4(PAX3):c.451+129C>A	PAX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205688	NM_181458.4(PAX3):c.451+89C>T	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254424	NM_181458.4(PAX3):c.451+25C>G	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1704043	NM_181458.4(PAX3):c.450A>G (p.Ser150=)	PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely pathogenic
Select item 1309458	NM_181458.4(PAX3):c.448T>C (p.Ser150Pro)	PAX3 (S149P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308584	NM_181458.4(PAX3):c.424G>T (p.Val142Phe)	PAX3 (V141F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194231	NM_181458.4(PAX3):c.322-29C>T	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193952	NM_181458.4(PAX3):c.322-117G>A	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189458	NM_181458.4(PAX3):c.322-274T>A	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209506	NM_181458.4(PAX3):c.321+258A>G	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682675	NM_181458.4(PAX3):c.321+91G>T	PAX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250793	NM_181458.4(PAX3):c.321+73T>C	PAX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304247	NM_181458.4(PAX3):c.287T>C (p.Ile96Thr)	PAX3 (I96T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975974	NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter)	PAX3 (Y90*)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 4210	NM_181457.3(PAX3):c.242G>C (p.Gly81Ala)	PAX3 (G81A)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 133308	NM_181458.4(PAX3):c.241G>T (p.Gly81Cys)	PAX3 (G81C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2136213	NM_181458.4(PAX3):c.238C>T (p.His80Tyr)	PAX3 (H80Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1195199	NM_181458.4(PAX3):c.233T>A (p.Val78Glu)	PAX3 (V78E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1696895	NM_181458.4(PAX3):c.185T>A (p.Met62Lys)	PAX3 (M62K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2697412	NM_181458.4(PAX3):c.179T>A (p.Val60Glu)	PAX3 (V60E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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