5077[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	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 3043517	NM_181458.4(PAX3):c.*239C>A	PAX3	Single nucleotide variant (3 prime UTR variant)	PAX3-related disorder	GLikely benign
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 (intron variant +1 more)	Craniofacial-deafness-hand syndrome +1 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)	not provided	GLikely benign
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 +1 more	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)	Waardenburg syndrome +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 2184751	NM_181458.4(PAX3):c.1231G>A (p.Ala411Thr)	PAX3 (A410T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 +1 more	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)	Waardenburg syndrome type 1	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 specified +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 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 727828	NM_181458.4(PAX3):c.1173+9C>T	LOC126806529, PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667018	NM_181458.4(PAX3):c.1166C>G (p.Ser389Ter)	LOC126806529, PAX3 (S389* +1 more)	Single nucleotide variant (nonsense)	Rare genetic deafness	GPathogenic
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 1941819	NM_181458.4(PAX3):c.1160G>A (p.Gly387Asp)	LOC126806529, PAX3 (G387D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1065041	NM_181458.4(PAX3):c.1145C>A (p.Pro382His)	LOC126806529, PAX3 (P381H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1690361	NM_181458.4(PAX3):c.1127C>A (p.Pro376His)	LOC126806529, PAX3 (P375H +1 more)	Single nucleotide variant (missense variant)	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 334559	NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu)	LOC126806529, PAX3 (P373L +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2866409	NM_181458.4(PAX3):c.1113_1115dup (p.Pro373_Ser374insPro)	LOC126806529, PAX3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 505111	NM_181458.4(PAX3):c.1116T>A (p.Pro372=)	LOC126806529, PAX3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2131126	NM_181458.4(PAX3):c.1111G>T (p.Val371Leu)	LOC126806529, PAX3 (V371L +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 715840	NM_181458.4(PAX3):c.1107C>T (p.Ser369=)	LOC126806529, PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1275818	NM_181458.4(PAX3):c.1097del (p.Tyr366fs)	LOC126806529, PAX3 (Y365fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 800731	NM_181458.4(PAX3):c.1076_1077del (p.Thr359fs)	LOC126806529, PAX3 (T359fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GPathogenic
Select item 783361	NM_181458.4(PAX3):c.1071C>T (p.Pro357=)	LOC126806529, PAX3	Single nucleotide variant (synonymous variant)	PAX3-related disorder +1 more	GBenign/Likely benign
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 739452	NM_181458.4(PAX3):c.1029G>A (p.Thr343=)	LOC126806529, PAX3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 547751	NM_181458.4(PAX3):c.1021C>T (p.Gln341Ter)	LOC126806529, PAX3 (Q341* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 1453696	NM_181458.4(PAX3):c.1015_1016del (p.Val339fs)	LOC126806529, PAX3 (V338fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 899135	NM_181458.4(PAX3):c.1012A>T (p.Thr338Ser)	LOC126806529, PAX3 (T338S +1 more)	Single nucleotide variant (missense variant)	Craniofacial-deafness-hand syndrome +2 more	GUncertain significance
Select item 226993	NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser)	LOC126806529, PAX3 (P334S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1387929	NM_181458.4(PAX3):c.998C>T (p.Pro333Leu)	LOC126806529, PAX3 (P332L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 504758	NM_181458.4(PAX3):c.982G>A (p.Val328Ile)	LOC126806529, PAX3 (V327I +1 more)	Single nucleotide variant (missense variant)	PAX3-related disorder +2 more	GLikely benign
Select item 895017	NM_181458.4(PAX3):c.981C>T (p.Thr327=)	LOC126806529, PAX3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 252800	NM_181458.4(PAX3):c.968A>G (p.Asp323Gly)	LOC126806529, PAX3 (D323G +1 more)	Single nucleotide variant (missense variant)	not specified	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 504759	NM_181458.4(PAX3):c.958+9G>A	LOC126806529, PAX3	Single nucleotide variant (intron variant)	Craniofacial-deafness-hand syndrome +3 more	GConflicting classifications of pathogenicity
Select item 505854	NM_181458.4(PAX3):c.958+6G>A	PAX3	Single nucleotide variant (intron variant)	not specified	GUncertain significance

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