"GeneDx"[submitter] AND "IQSEC2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58616	GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2	BMP15, CENPVL1 +77 more	Copy number gain	See cases	GPathogenic
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 384399	NM_001111125.3(IQSEC2):c.*13G>C	IQSEC2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1310781	NM_001111125.3(IQSEC2):c.4465T>A (p.Ter1489Arg)	IQSEC2	Single nucleotide variant (stop lost +1 more)	not provided	GLikely pathogenic
Select item 449855	NM_001111125.3(IQSEC2):c.4463T>C (p.Val1488Ala)	IQSEC2 (V1488A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 423803	NM_001111125.3(IQSEC2):c.4459G>A (p.Val1487Met)	IQSEC2 (V1487M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 681628	NM_001111125.3(IQSEC2):c.4458C>T (p.Thr1486=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1718724	NM_001111125.3(IQSEC2):c.4448G>A (p.Arg1483Gln)	IQSEC2 (R1483Q)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1 +1 more	GUncertain significance
Select item 2663104	NM_001111125.3(IQSEC2):c.4433del (p.Lys1478fs)	IQSEC2 (K1478fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1206978	NM_001111125.3(IQSEC2):c.4430C>T (p.Pro1477Leu)	IQSEC2 (P1477L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 975247	NM_001111125.3(IQSEC2):c.4419dup (p.Ser1474fs)	IQSEC2 (S1474fs)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 1 +1 more	GPathogenic
Select item 770080	NM_001111125.3(IQSEC2):c.4419C>A (p.Pro1473=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1218277	NM_001111125.3(IQSEC2):c.4418C>T (p.Pro1473Leu)	IQSEC2 (P1473L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129284	NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr)	IQSEC2 (A1470T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 3064512	NM_001111125.3(IQSEC2):c.4387G>A (p.Ala1463Thr)	IQSEC2 (A1463T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1 +1 more	GUncertain significance
Select item 1800754	NM_001111125.3(IQSEC2):c.4348T>C (p.Ser1450Pro)	IQSEC2 (S1450P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 759728	NM_001111125.3(IQSEC2):c.4317C>T (p.Pro1439=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1 +1 more	GLikely benign
Select item 421727	NM_001111125.3(IQSEC2):c.4300del (p.His1434fs)	IQSEC2 (H1434fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 194482	NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 817176	NM_001111125.3(IQSEC2):c.4255dup (p.His1419fs)	IQSEC2 (H1419fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 508555	NM_001111125.3(IQSEC2):c.4245C>T (p.Tyr1415=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 383928	NM_001111125.3(IQSEC2):c.4206G>A (p.Ala1402=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 426456	NM_001111125.3(IQSEC2):c.4204G>A (p.Ala1402Thr)	IQSEC2 (A1402T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1 +1 more	GLikely benign
Select item 2504569	NM_001111125.3(IQSEC2):c.4174C>T (p.His1392Tyr)	IQSEC2 (H1392Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576752	NM_001111125.3(IQSEC2):c.4127A>C (p.Gln1376Pro)	IQSEC2 (Q1376P)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1 +1 more	GUncertain significance
Select item 1007288	NM_001111125.3(IQSEC2):c.4120G>A (p.Ala1374Thr)	IQSEC2 (A1374T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 620442	NM_001111125.3(IQSEC2):c.4113C>G (p.Tyr1371Ter)	IQSEC2 (Y1371*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 511258	NM_001111125.3(IQSEC2):c.4110G>A (p.Leu1370=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 93557	NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1 +3 more	GBenign/Likely benign
Select item 1700807	NM_001111125.3(IQSEC2):c.4093A>C (p.Thr1365Pro)	IQSEC2 (T1365P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 857562	NM_001111125.3(IQSEC2):c.4050C>A (p.His1350Gln)	IQSEC2 (H1350Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 422032	NM_001111125.3(IQSEC2):c.4039dup (p.Ala1347fs)	IQSEC2 (A1347fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1208860	NM_001111125.3(IQSEC2):c.4039G>A (p.Ala1347Thr)	IQSEC2 (A1347T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 418989	NM_001111125.3(IQSEC2):c.4027_4030dup (p.Arg1344fs)	IQSEC2 (R1344fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 497655	NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys)	IQSEC2 (R1341K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1308037	NM_001111125.3(IQSEC2):c.4000T>C (p.Tyr1334His)	IQSEC2 (Y1334H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 512507	NM_001111125.3(IQSEC2):c.3999C>T (p.His1333=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 129282	NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 384373	NM_001111125.3(IQSEC2):c.3970G>A (p.Ala1324Thr)	IQSEC2 (A1324T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 1460948	NM_001111125.3(IQSEC2):c.3958C>T (p.Arg1320Cys)	IQSEC2 (R1320C)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1 +2 more	GUncertain significance
Select item 3365806	NM_001111125.3(IQSEC2):c.3946G>A (p.Val1316Met)	IQSEC2 (V1316M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575025	NM_001111125.3(IQSEC2):c.3931G>A (p.Ala1311Thr)	IQSEC2 (A1311T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1810117	NM_001111125.3(IQSEC2):c.3913T>G (p.Ser1305Ala)	IQSEC2 (S1305A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1327664	NM_001111125.3(IQSEC2):c.3895C>T (p.Pro1299Ser)	IQSEC2 (P1299S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 421942	NM_001111125.3(IQSEC2):c.3886C>T (p.Gln1296Ter)	IQSEC2 (Q1296*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 450292	NM_001111125.3(IQSEC2):c.3880C>A (p.Pro1294Thr)	IQSEC2 (P1294T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1 +2 more	GConflicting classifications of pathogenicity
Select item 383434	NM_001111125.3(IQSEC2):c.3870T>C (p.Leu1290=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 620190	NM_001111125.3(IQSEC2):c.3856C>T (p.Gln1286Ter)	IQSEC2 (Q1286*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 507394	NM_001111125.3(IQSEC2):c.3849C>G (p.Leu1283=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 388931	NM_001111125.3(IQSEC2):c.3825G>A (p.Pro1275=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 422479	NM_001111125.3(IQSEC2):c.3793C>T (p.Gln1265Ter)	IQSEC2 (Q1265*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 516662	NM_001111125.3(IQSEC2):c.3717CCA[6] (p.His1247del)	IQSEC2 (H1247del)	Microsatellite (inframe_deletion +1 more)	Intellectual disability, X-linked 1 +1 more	GConflicting classifications of pathogenicity
Select item 420371	NM_001111125.3(IQSEC2):c.3717CCA[4] (p.His1245_His1247del)	IQSEC2	Microsatellite (inframe_deletion +1 more)	Intellectual disability, X-linked 1 +1 more	GLikely benign
Select item 211207	NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1341618	NM_001111125.3(IQSEC2):c.3727C>T (p.His1243Tyr)	IQSEC2 (H1243Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 817936	NM_001111125.3(IQSEC2):c.3718dup (p.His1240fs)	IQSEC2 (H1240fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 523861	NM_001111125.3(IQSEC2):c.3679C>T (p.Gln1227Ter)	IQSEC2 (Q1227*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1052061	NM_001111125.3(IQSEC2):c.3674C>T (p.Thr1225Ile)	IQSEC2 (T1225I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 387552	NM_001111125.3(IQSEC2):c.3669G>A (p.Pro1223=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 211206	NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1185976	NM_001111125.3(IQSEC2):c.3564G>C (p.Pro1188=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 706991	NM_001111125.3(IQSEC2):c.3555A>C (p.Pro1185=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 432902	NM_001111125.3(IQSEC2):c.3548C>T (p.Pro1183Leu)	IQSEC2 (P1183L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1306076	NM_001111125.3(IQSEC2):c.3533A>G (p.Gln1178Arg)	IQSEC2 (Q1178R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1218675	NM_001111125.3(IQSEC2):c.3515dup (p.Ser1172fs)	IQSEC2 (S1172fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 429884	NM_001111125.3(IQSEC2):c.3502-2del	IQSEC2	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 682472	NM_001111125.3(IQSEC2):c.3502-8G>A	IQSEC2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 518169	NM_001111125.3(IQSEC2):c.3502-15C>T	IQSEC2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1218677	NM_001111125.3(IQSEC2):c.3475G>A (p.Val1159Met)	IQSEC2 (V1159M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2231093	NM_001111125.3(IQSEC2):c.3467G>A (p.Arg1156His)	IQSEC2 (R1156H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1043276	NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp)	IQSEC2 (R1155W)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1 +2 more	GConflicting classifications of pathogenicity
Select item 1304197	NM_001111125.3(IQSEC2):c.3457C>T (p.Arg1153Trp)	IQSEC2 (R1153W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1174360	NM_001111125.3(IQSEC2):c.3452-40del	IQSEC2	Deletion (intron variant)	not provided	GLikely benign
Select item 1194191	NM_001111125.3(IQSEC2):c.3452-46G>C	IQSEC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191128	NM_001111125.3(IQSEC2):c.3452-163_3452-161del	IQSEC2	Deletion (intron variant)	not provided	GLikely benign
Select item 385473	NM_001111125.3(IQSEC2):c.3451+17C>T	IQSEC2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1341609	NM_001111125.3(IQSEC2):c.3439C>A (p.Leu1147Ile)	IQSEC2 (L1147I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1070778	NM_001111125.3(IQSEC2):c.3433C>T (p.Arg1145Ter)	IQSEC2 (R1145* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1308964	NM_001111125.3(IQSEC2):c.3397G>A (p.Asp1133Asn)	IQSEC2 (D1133N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1 +1 more	GConflicting classifications of pathogenicity
Select item 507281	NM_001111125.3(IQSEC2):c.3387C>T (p.Tyr1129=)	IQSEC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1345014	NM_001111125.3(IQSEC2):c.3365G>A (p.Arg1122His)	IQSEC2 (R917H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 506413	NM_001111125.3(IQSEC2):c.3314A>G (p.Asn1105Ser)	IQSEC2 (N1105S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1 +1 more	GLikely benign
Select item 689766	NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1 +1 more	GConflicting classifications of pathogenicity
Select item 426448	NM_001111125.3(IQSEC2):c.3278-5C>G	IQSEC2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1199930	NM_001111125.3(IQSEC2):c.3278-13G>C	IQSEC2	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 1 +1 more	GBenign/Likely benign
Select item 383947	NM_001111125.3(IQSEC2):c.3278-14C>T	IQSEC2	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 1 +1 more	GLikely benign
Select item 1246333	NM_001111125.3(IQSEC2):c.3278-158A>G	IQSEC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383472	NM_001111125.3(IQSEC2):c.3277+18G>A	IQSEC2	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 1 +1 more	GBenign
Select item 422353	NM_001111125.3(IQSEC2):c.3277+5G>A	IQSEC2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 423760	NM_001111125.3(IQSEC2):c.3250C>T (p.Gln1084Ter)	IQSEC2 (Q1084* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1305330	NM_001111125.3(IQSEC2):c.3242C>T (p.Ala1081Val)	IQSEC2 (A1081V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 871790	NM_001111125.3(IQSEC2):c.3229C>T (p.Arg1077Cys)	IQSEC2 (R872C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1 +2 more	GConflicting classifications of pathogenicity
Select item 3372799	NM_001111125.3(IQSEC2):c.3217A>G (p.Thr1073Ala)	IQSEC2 (T1073A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975246	NM_001111125.3(IQSEC2):c.3206G>A (p.Arg1069Gln)	IQSEC2 (R1069Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 449760	NM_001111125.3(IQSEC2):c.3206G>C (p.Arg1069Pro)	IQSEC2 (R1069P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 511234	NM_001111125.3(IQSEC2):c.3159G>A (p.Gly1053=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1 +1 more	GBenign/Likely benign
Select item 1188655	NM_001111125.3(IQSEC2):c.3116-310C>T	IQSEC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298084	NM_001111125.3(IQSEC2):c.3115+218T>G	IQSEC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426422	NM_001111125.3(IQSEC2):c.3082G>A (p.Val1028Met)	IQSEC2 (V1028M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662132	NM_001111125.3(IQSEC2):c.3055T>C (p.Tyr1019His)	IQSEC2 (Y1019H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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