PAX3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3043517	NM_181458.4(PAX3):c.*239C>A	PAX3	Single nucleotide variant (3 prime UTR variant)	PAX3-related disorder	GLikely benign
Select item 3304468	NM_181458.4(PAX3):c.*196G>A	PAX3 (D494N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1048552	NM_181458.4(PAX3):c.*175C>T	PAX3 (Q487*)	Single nucleotide variant (3 prime UTR variant +2 more)	Waardenburg syndrome type 1	GPathogenic
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 800739	NM_181458.4(PAX3):c.*3G>C	PAX3	Single nucleotide variant (3 prime UTR variant +2 more)	Waardenburg syndrome type 1	GUncertain significance
Select item 227834	NM_181458.4(PAX3):c.1449C>T (p.Ile483=)	PAX3 (S401L)	Single nucleotide variant (synonymous variant +1 more)	not specified	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 334551	NM_181458.4(PAX3):c.1420+220C>T	PAX3	Single nucleotide variant (intron variant +1 more)	Craniofacial-deafness-hand syndrome +1 more	GBenign
Select item 334552	NM_181458.4(PAX3):c.1420+201C>T	PAX3	Single nucleotide variant (3 prime UTR variant +1 more)	Craniofacial-deafness-hand syndrome +1 more	GUncertain significance
Select item 894955	NM_181458.4(PAX3):c.1420+186G>A	PAX3	Single nucleotide variant (3 prime UTR variant +1 more)	Craniofacial-deafness-hand syndrome +1 more	GBenign
Select item 894956	NM_181458.4(PAX3):c.1420+165G>T	PAX3	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
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 334554	NM_181458.4(PAX3):c.1420+125T>G	PAX3	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 334555	NM_181458.4(PAX3):c.1420+104G>A	PAX3	Single nucleotide variant (intron variant +1 more)	Craniofacial-deafness-hand syndrome +1 more	GBenign
Select item 896391	NM_181458.4(PAX3):c.1420+103C>T	PAX3	Single nucleotide variant (3 prime UTR variant +1 more)	Craniofacial-deafness-hand syndrome +1 more	GUncertain significance
Select item 334556	NM_181458.4(PAX3):c.1420+55C>T	PAX3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 752833	NM_181458.4(PAX3):c.1420+14T>A	PAX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1492374	NM_181458.4(PAX3):c.1399C>A (p.Gln467Lys)	PAX3 (Q467K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2631393	NM_181458.4(PAX3):c.1371_1376delinsGTCCACC (p.Tyr458fs)	PAX3 (Y457fs +1 more)	Indel (frameshift variant +1 more)	PAX3-related disorder	GLikely pathogenic
Select item 547753	NM_181458.4(PAX3):c.1372_1375dup (p.Ser459fs)	PAX3 (S459fs +1 more)	Duplication (frameshift variant +1 more)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 2910583	NM_181458.4(PAX3):c.1375A>C (p.Ser459Arg)	PAX3 (S458R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2373916	NM_181458.4(PAX3):c.1367C>T (p.Thr456Ile)	PAX3 (T455I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1975071	NM_181458.4(PAX3):c.1352C>A (p.Pro451His)	PAX3 (P450H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2168904	NM_181458.4(PAX3):c.1348C>G (p.Pro450Ala)	PAX3 (P449A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2809987	NM_181458.4(PAX3):c.1342dup (p.Tyr448fs)	PAX3 (Y448fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 756734	NM_181458.4(PAX3):c.1338G>A (p.Gln446=)	PAX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2490090	NM_181458.4(PAX3):c.1325T>G (p.Leu442Arg)	PAX3 (L442R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2862586	NM_181458.4(PAX3):c.1291C>T (p.Gln431Ter)	PAX3 (Q431* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 547752	NM_181458.4(PAX3):c.1277C>A (p.Ser426Ter)	PAX3 (S426* +1 more)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 896392	NM_181458.4(PAX3):c.1253G>T (p.Gly418Val)	PAX3 (G418V +1 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 743485	NM_181458.4(PAX3):c.1248C>T (p.Thr416=)	PAX3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 898020	NM_181458.4(PAX3):c.1240C>T (p.Pro414Ser)	PAX3 (P413S +1 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome +1 more	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 2184751	NM_181458.4(PAX3):c.1231G>A (p.Ala411Thr)	PAX3 (A410T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 737127	NM_181458.4(PAX3):c.1230C>T (p.Tyr410=)	PAX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 545017	NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter)	PAX3 (Y410* +1 more)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 1	GPathogenic
Select item 334557	NM_181458.4(PAX3):c.1229A>T (p.Tyr410Phe)	PAX3 (Y410F +1 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 2123511	NM_181458.4(PAX3):c.1213C>T (p.Gln405Ter)	PAX3 (Q404* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2896438	NM_181458.4(PAX3):c.1208C>T (p.Pro403Leu)	PAX3 (P402L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2411333	NM_181458.4(PAX3):c.1204G>T (p.Val402Leu)	PAX3 (V402L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 334558	NM_181458.4(PAX3):c.1204G>A (p.Val402Ile)	PAX3 (V402I +1 more)	Single nucleotide variant (missense variant +1 more)	Craniofacial-deafness-hand syndrome +2 more	GUncertain significance
Select item 723893	NM_181458.4(PAX3):c.1197C>T (p.His399=)	PAX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 488039	NM_181458.4(PAX3):c.1195C>G (p.His399Asp)	PAX3 (H399D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1430969	NM_181458.4(PAX3):c.1181G>A (p.Gly394Glu)	PAX3 (G393E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2746537	NM_181458.4(PAX3):c.1174-2A>G	PAX3	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 229128	NM_181458.4(PAX3):c.1174-3del	PAX3	Deletion (intron variant)	not specified	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 2097849	NM_181458.4(PAX3):c.1174-18A>G	PAX3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1205058	NM_181458.4(PAX3):c.1174-287G>A	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 505854	NM_181458.4(PAX3):c.958+6G>A	PAX3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1175990	NM_181458.4(PAX3):c.955C>T (p.Gln319Ter)	PAX3 (Q318* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1925416	NM_181458.4(PAX3):c.942C>T (p.Pro314=)	PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817192	NM_181458.4(PAX3):c.936C>G (p.Tyr312Ter)	PAX3 (Y312* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 995916	NM_181458.4(PAX3):c.925dup (p.Glu309fs)	PAX3 (E308fs +1 more)	Duplication (frameshift variant)	Waardenburg syndrome type 1	GPathogenic
Select item 739321	NM_181458.4(PAX3):c.924G>A (p.Ser308=)	PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 547750	NM_181458.4(PAX3):c.921del (p.Ser308fs)	PAX3 (S307fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 2966312	NM_181458.4(PAX3):c.900G>A (p.Pro300=)	PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 505425	NM_181458.4(PAX3):c.879dup (p.Phe294fs)	PAX3 (F294fs +1 more)	Duplication (frameshift variant)	Waardenburg syndrome +3 more	GPathogenic
Select item 1447634	NM_181458.4(PAX3):c.879del (p.Phe294fs)	PAX3 (F294fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 747565	NM_181458.4(PAX3):c.879G>A (p.Gly293=)	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 517263	NM_181458.4(PAX3):c.873dup (p.Gly292fs)	PAX3 (G292fs +1 more)	Duplication (frameshift variant)	Rare genetic deafness +2 more	GPathogenic
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 2636714	NM_181458.4(PAX3):c.863A>G (p.His288Arg)	PAX3 (H287R +1 more)	Single nucleotide variant (missense variant)	PAX3-related disorder	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 1064867	NM_181458.4(PAX3):c.829C>T (p.Gln277Ter)	PAX3 (Q276* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 3	GPathogenic
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 547749	NM_181458.4(PAX3):c.818G>A (p.Arg273Lys)	PAX3 (R273K +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GUncertain significance
Select item 3038612	NM_181458.4(PAX3):c.813dup (p.Ala272fs)	PAX3 (A271fs +1 more)	Duplication (frameshift variant)	PAX3-related disorder	GLikely pathogenic
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 547748	NM_181458.4(PAX3):c.811C>T (p.Arg271Cys)	PAX3 (R271C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2664999	NM_181458.4(PAX3):c.809G>A (p.Arg270His)	PAX3 (R269H +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 1677250	NM_181458.4(PAX3):c.809G>C (p.Arg270Pro)	PAX3 (R269P +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
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 2756989	NM_181458.4(PAX3):c.804del (p.Ser268fs)	PAX3 (S267fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 3344079	NM_181458.4(PAX3):c.793-1G>C	PAX3	Single nucleotide variant (splice acceptor variant)	PAX3-related disorder	GLikely pathogenic
Select item 2630762	NM_181458.4(PAX3):c.793-4A>G	PAX3	Single nucleotide variant (intron variant)	PAX3-related disorder	GUncertain significance
Select item 1897587	NM_181458.4(PAX3):c.793-16T>G	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278226	NM_181458.4(PAX3):c.792+88C>G	PAX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1686005	NM_181458.4(PAX3):c.792+2T>C	PAX3	Single nucleotide variant (splice donor variant)	Craniofacial-deafness-hand syndrome	GPathogenic
Select item 3252574	NM_181458.4(PAX3):c.792+1G>A	PAX3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 547746	NM_181458.4(PAX3):c.791A>C (p.Gln264Pro)	PAX3 (Q264P +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 488036	NM_181458.4(PAX3):c.790C>T (p.Gln264Ter)	PAX3 (Q264* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 1	GLikely pathogenic
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

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