ClinVar for Gene (Select 5077) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3389138	NM_181458.4(PAX3):c.642A>C (p.Pro214=)	PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3388639	NM_181458.4(PAX3):c.1122G>A (p.Ser374=)	PAX3, LOC126806529	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3382706	NM_181458.4(PAX3):c.452-1G>A	PAX3	Single nucleotide variant (splice acceptor variant)	Craniofacial-deafness-hand syndrome +3 more	GLikely pathogenic
Select item 3382692	NM_181458.4(PAX3):c.709G>C (p.Ala237Pro)	PAX3 (A236P +1 more)	Single nucleotide variant (missense variant)	Craniofacial-deafness-hand syndrome +3 more	GUncertain significance
Select item 3381830	NM_181458.4(PAX3):c.797_798inv (p.Trp266Ser)	PAX3 (W265S +1 more)	Inversion (missense variant)	Waardenburg syndrome	GPathogenic
Select item 3381829	NM_181458.4(PAX3):c.185T>C (p.Met62Thr)	PAX3 (M62T)	Single nucleotide variant (missense variant)	Waardenburg syndrome	GPathogenic
Select item 3377159	NM_181458.4(PAX3):c.1238C>T (p.Ser413Phe)	PAX3 (S412F +1 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome	GUncertain significance
Select item 3377037	NM_181458.4(PAX3):c.86-2A>C	PAX3	Single nucleotide variant (splice acceptor variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 3376858	NM_181458.4(PAX3):c.1253del (p.Gly418fs)	PAX3 (G417fs +1 more)	Deletion (intron variant +1 more)	Waardenburg syndrome type 1	GPathogenic
Select item 3367515	NM_181458.4(PAX3):c.46C>T (p.Pro16Ser)	CCDC140, PAX3 (P16S)	Single nucleotide variant (missense variant)	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 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 3353601	NM_181458.4(PAX3):c.232G>A (p.Val78Met)	PAX3 (V78M)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GPathogenic
Select item 3347313	NM_181458.4(PAX3):c.128_129inv (p.Gly43Asp)	PAX3 (G43D)	Inversion (missense variant)	PAX3-related disorder	GUncertain significance
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 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 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 3342420	NM_181458.4(PAX3):c.544AAG[1] (p.Lys183del)	PAX3 (K182del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3342303	NM_181458.4(PAX3):c.959-5T>G	LOC126806529, PAX3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3337438	NM_181458.4(PAX3):c.178G>A (p.Val60Met)	PAX3 (V60M)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3336795	NM_181458.4(PAX3):c.265A>G (p.Arg89Gly)	PAX3 (R89G)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 3	GLikely pathogenic
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 3255589	NM_181458.4(PAX3):c.526del (p.Glu176fs)	PAX3 (E175fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 3253402	NM_181458.4(PAX3):c.52C>T (p.Gln18Ter)	CCDC140, PAX3 (Q18*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3252574	NM_181458.4(PAX3):c.792+1G>A	PAX3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3247601	NC_000002.11:g.(?_223066643)_(223086126_?)del	PAX3	Deletion	not provided	GPathogenic
Select item 3247600	NC_000002.11:g.(?_223066643)_(223097022_?)del	PAX3	Deletion	not provided	GPathogenic
Select item 3247599	NC_000002.11:g.(?_223066643)_(223066929_?)del	PAX3	Deletion	not provided	GUncertain significance
Select item 3247598	NC_000002.11:g.(?_223163230)_(223163334_?)del	CCDC140, PAX3	Deletion	not provided	GPathogenic
Select item 3247534	NC_000002.11:g.(?_223066643)_(223520792_?)dup	CCDC140, FARSB +2 more	Duplication	not provided	GUncertain significance
Select item 3208977	NM_181458.4(PAX3):c.317C>T (p.Pro106Leu)	PAX3 (P106L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208976	NM_181458.4(PAX3):c.1135C>T (p.Pro379Ser)	LOC126806529, PAX3 (P379S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3061695	NM_181458.4(PAX3):c.586+407C>T	PAX3	Single nucleotide variant (3 prime UTR variant +1 more)	PAX3-related disorder	GLikely benign
Select item 3061153	NM_181458.4(PAX3):c.295G>T (p.Gly99Cys)	PAX3 (G99C)	Single nucleotide variant (missense variant)	PAX3-related disorder	GUncertain significance
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 3038612	NM_181458.4(PAX3):c.813dup (p.Ala272fs)	PAX3 (A271fs +1 more)	Duplication (frameshift variant)	PAX3-related disorder	GLikely pathogenic
Select item 3036489	NM_181458.4(PAX3):c.768G>A (p.Ala256=)	PAX3	Single nucleotide variant (synonymous variant)	PAX3-related disorder	GLikely benign
Select item 3031519	NM_181458.4(PAX3):c.444G>T (p.Val148=)	PAX3	Single nucleotide variant (synonymous variant)	PAX3-related disorder	GLikely benign
Select item 3030669	NM_181458.4(PAX3):c.586+29T>C	PAX3	Single nucleotide variant (synonymous variant +1 more)	PAX3-related disorder	GLikely benign
Select item 3012911	NM_181458.4(PAX3):c.85+18C>G	CCDC140, PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979073	NM_181458.4(PAX3):c.756G>A (p.Leu252=)	PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968330	NM_181458.4(PAX3):c.587-8G>A	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966312	NM_181458.4(PAX3):c.900G>A (p.Pro300=)	PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919319	NM_181458.4(PAX3):c.19G>T (p.Ala7Ser)	CCDC140, PAX3 (A7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917656	NM_181458.4(PAX3):c.547A>C (p.Lys183Gln)	PAX3 (K182Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2874599	NM_181458.4(PAX3):c.587-9T>C	PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866409	NM_181458.4(PAX3):c.1113_1115dup (p.Pro373_Ser374insPro)	LOC126806529, PAX3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2863272	NM_181458.4(PAX3):c.1162C>G (p.Leu388Val)	LOC126806529, PAX3 (L387V +1 more)	Single nucleotide variant (missense variant)	not provided	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 2850743	NM_181458.4(PAX3):c.614_615del (p.Gly204_Ser205insTer)	PAX3	Microsatellite (nonsense)	not provided	GPathogenic
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 2811818	NM_181458.4(PAX3):c.118C>A (p.Gln40Lys)	PAX3 (Q40K)	Single nucleotide variant (missense variant)	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 2808619	NM_181458.4(PAX3):c.63G>A (p.Pro21=)	CCDC140, PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791415	NM_181458.4(PAX3):c.77C>T (p.Pro26Leu)	CCDC140, PAX3 (P26L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780971	NM_181458.4(PAX3):c.69C>T (p.Ser23=)	CCDC140, PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775992	NM_181458.4(PAX3):c.694G>C (p.Glu232Gln)	PAX3 (E232Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762993	NM_181458.4(PAX3):c.266G>C (p.Arg89Thr)	PAX3 (R89T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2757775	NM_181458.4(PAX3):c.127G>A (p.Gly43Ser)	PAX3 (G43S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2756989	NM_181458.4(PAX3):c.804del (p.Ser268fs)	PAX3 (S267fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 2712440	NM_181458.4(PAX3):c.490A>T (p.Lys164Ter)	PAX3 (K163* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2708857	NM_181458.4(PAX3):c.322-2A>G	PAX3	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2701956	NM_181458.4(PAX3):c.262_271dup (p.Gln91fs)	PAX3 (Q91fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2700189	NM_181458.4(PAX3):c.16G>C (p.Gly6Arg)	CCDC140, LOC107980445 +1 more (G6R)	Single nucleotide variant (missense variant)	not provided	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
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	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 2664327	NM_181458.4(PAX3):c.433C>T (p.Arg145Ter)	PAX3 (R144* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 2651941	NM_181458.4(PAX3):c.723T>G (p.Thr241=)	PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2633055	NM_181458.4(PAX3):c.994C>T (p.Gln332Ter)	LOC126806529, PAX3 (Q331* +1 more)	Single nucleotide variant (nonsense)	PAX3-related disorder	GLikely pathogenic
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 2630762	NM_181458.4(PAX3):c.793-4A>G	PAX3	Single nucleotide variant (intron variant)	PAX3-related disorder	GUncertain significance
Select item 2585308	NM_181458.4(PAX3):c.509C>A (p.Ala170Asp)	PAX3 (A170D +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2579126	NM_181458.4(PAX3):c.602C>A (p.Ser201Ter)	PAX3 (S200* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 2577203	NM_181458.4(PAX3):c.142G>A (p.Gly48Ser)	PAX3 (G48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574253	NM_181458.4(PAX3):c.91A>C (p.Thr31Pro)	PAX3 (T31P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2556551	NM_181458.4(PAX3):c.173A>G (p.Lys58Arg)	PAX3 (K58R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508524	NM_181458.4(PAX3):c.571A>T (p.Ile191Phe)	PAX3 (I190F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 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 2427576	NC_000002.11:g.(?_223066643)_(223163334_?)del	CCDC140, PAX3	Deletion	not provided	GPathogenic
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 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 2250509	NM_181458.4(PAX3):c.658C>T (p.Arg220Cys)	PAX3 (R220C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245411	NM_181458.4(PAX3):c.379G>C (p.Gly127Arg)	PAX3 (G126R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203269	NM_181458.4(PAX3):c.451+1G>A	PAX3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 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 2155770	NM_181458.4(PAX3):c.1121C>T (p.Ser374Leu)	LOC126806529, PAX3 (S374L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

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