"GeneDx"[submitter] AND "IFT122"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365789	NC_000003.12:g.129439794G>A	IFT122, LOC129937550 +1 more (R14C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 343225	NM_052985.3(IFT122):c.-210C>A	IFT122	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 343226	NM_052985.3(IFT122):c.-206A>G	IFT122	Single nucleotide variant	Cranioectodermal dysplasia 1 +1 more	GBenign
Select item 1262972	NM_052989.3(IFT122):c.42-265T>C	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254763	NM_052989.3(IFT122):c.42-230G>A	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251712	NM_052989.3(IFT122):c.108+89del	IFT122	Deletion (intron variant)	not provided	GBenign
Select item 1246859	NM_052989.3(IFT122):c.108+88_108+89del	IFT122	Deletion (intron variant)	not provided	GBenign
Select item 343228	NM_052989.3(IFT122):c.109-15T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1 +3 more	GBenign/Likely benign
Select item 419260	NM_052989.3(IFT122):c.183T>G (p.Tyr61Ter)	IFT122 (Y61*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1261022	NM_052989.3(IFT122):c.194-96C>T	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193127	NM_052989.3(IFT122):c.272+128G>T	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270613	NM_052989.3(IFT122):c.273-694A>G	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293727	NM_052989.3(IFT122):c.273-448_273-447insTG	IFT122	Insertion (intron variant)	not provided	GBenign
Select item 262272	NM_052989.3(IFT122):c.273-417del	IFT122	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1300807	NM_052989.3(IFT122):c.273-110G>A	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 343233	NM_052989.3(IFT122):c.321A>G (p.Gln107=)	IFT122	Single nucleotide variant (synonymous variant +2 more)	Cranioectodermal dysplasia 1 +4 more	GConflicting classifications of pathogenicity
Select item 1205106	NM_052989.3(IFT122):c.349+232A>C	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293732	NM_052989.3(IFT122):c.416+119T>C	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281833	NM_052989.3(IFT122):c.417-75G>T	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 419921	NM_052989.3(IFT122):c.511C>T (p.Arg171Trp)	IFT122 (R222W +3 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 1208349	NM_052989.3(IFT122):c.563+279C>T	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179921	NM_052989.3(IFT122):c.564-92T>C	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243895	NM_052989.3(IFT122):c.564-72C>A	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 283378	NM_052989.3(IFT122):c.617T>C (p.Ile206Thr)	IFT122 (I257T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 430211	NM_052989.3(IFT122):c.655A>G (p.Lys219Glu)	IFT122 (K270E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 262273	NM_052989.3(IFT122):c.740+15G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1 +3 more	GBenign
Select item 1288528	NM_052989.3(IFT122):c.740+236del	IFT122	Deletion (intron variant)	not provided	GBenign
Select item 1228054	NM_052989.3(IFT122):c.741-223C>G	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275396	NM_052989.3(IFT122):c.741-162T>G	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268215	NM_052989.3(IFT122):c.741-105C>T	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223264	NM_052989.3(IFT122):c.816+65G>A	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270513	NM_052989.3(IFT122):c.817-218T>G	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238613	NM_052989.3(IFT122):c.817-187A>G	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238478	NM_052989.3(IFT122):c.817-172C>G	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262274	NM_052989.3(IFT122):c.825G>T (p.Lys275Asn)	IFT122 (K326N +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 262266	NM_052989.3(IFT122):c.1026C>T (p.Asp342=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +2 more	GConflicting classifications of pathogenicity
Select item 423724	NM_052989.3(IFT122):c.1067A>C (p.His356Pro)	IFT122 (H407P +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 461790	NM_052989.3(IFT122):c.1113C>T (p.Asp371=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +1 more	GBenign/Likely benign
Select item 262267	NM_052989.3(IFT122):c.1147+19C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1 +2 more	GBenign
Select item 1211490	NM_052989.3(IFT122):c.1147+32G>A	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269721	NM_052989.3(IFT122):c.1147+143dup	IFT122	Duplication (intron variant)	not provided	GBenign
Select item 1178782	NM_052989.3(IFT122):c.1147+142_1147+143dup	IFT122	Duplication (intron variant)	not provided	GLikely benign
Select item 1263433	NM_052989.3(IFT122):c.1147+144C>T	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228802	NM_052989.3(IFT122):c.1147+160dup	IFT122	Duplication (intron variant)	not provided	GBenign
Select item 1212376	NM_052989.3(IFT122):c.1147+160del	IFT122	Deletion (intron variant)	not provided	GLikely benign
Select item 3340230	NM_052989.3(IFT122):c.1171G>C (p.Val391Leu)	IFT122 (V182L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 343239	NM_052989.3(IFT122):c.1239G>A (p.Glu413=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +1 more	GBenign/Likely benign
Select item 530928	NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn)	IFT122 (D469N +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 288335	NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp)	IFT122 (R476W +6 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1265517	NM_052989.3(IFT122):c.1350+54C>G	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207723	NM_052989.3(IFT122):c.1350+54C>T	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243580	NM_052989.3(IFT122):c.1350+216TTTTA[3]	IFT122	Microsatellite (intron variant)	not provided	GBenign
Select item 1265924	NM_052989.3(IFT122):c.1351-312C>T	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178119	NM_052989.3(IFT122):c.1351-219G>T	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1369697	NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr)	IFT122 (C247Y +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 1183155	NM_052989.3(IFT122):c.1380C>T (p.Ser460=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +1 more	GLikely benign
Select item 1290366	NM_052989.3(IFT122):c.1488+29G>T	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220099	NM_052989.3(IFT122):c.1488+49C>T	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215001	NM_052989.3(IFT122):c.1488+108C>T	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292184	NM_052989.3(IFT122):c.1489-117T>G	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 343241	NM_052989.3(IFT122):c.1533G>A (p.Leu511=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +1 more	GBenign/Likely benign
Select item 901925	NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys)	IFT122 (R518C +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1276285	NM_052989.3(IFT122):c.1653+235A>C	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218221	NM_052989.3(IFT122):c.1653+296G>A	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178814	NM_052989.3(IFT122):c.1654-300A>G	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254913	NM_052989.3(IFT122):c.1654-82A>G	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262268	NM_052989.3(IFT122):c.1654-12C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1 +3 more	GBenign
Select item 343243	NM_052989.3(IFT122):c.1713G>T (p.Ser571=)	IFT122	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 2506826	NM_052989.3(IFT122):c.1730A>C (p.Asn577Thr)	IFT122 (N368T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438171	NM_052989.3(IFT122):c.1759C>T (p.Arg587Trp)	IFT122 (R528W +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 2581902	NM_052989.3(IFT122):c.1837G>A (p.Val613Met)	IFT122 (V404M +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1269103	NM_052989.3(IFT122):c.1851+119G>T	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217677	NM_052989.3(IFT122):c.1851+123G>A	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209553	NM_052989.3(IFT122):c.1852-316del	IFT122	Deletion (intron variant)	not provided	GLikely benign
Select item 1220032	NM_052989.3(IFT122):c.1852-315C>G	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247463	NM_052989.3(IFT122):c.1852-304G>T	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 707440	NM_052989.3(IFT122):c.1854C>T (p.Ser618=)	IFT122	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2209951	NM_052989.3(IFT122):c.1878T>G (p.Asp626Glu)	IFT122 (D476E +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 211179	NM_052989.3(IFT122):c.1908T>C (p.Ile636=)	IFT122	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 902830	NM_052989.3(IFT122):c.1940G>A (p.Arg647His)	IFT122 (R647H +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 343247	NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala)	IFT122 (E699A +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1233493	NM_052989.3(IFT122):c.1992+69C>G	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188588	NM_052989.3(IFT122):c.1992+127C>T	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193747	NM_052989.3(IFT122):c.1992+272C>T	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199055	NM_052989.3(IFT122):c.1993-281G>A	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232938	NM_052989.3(IFT122):c.1993-117C>A	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 211180	NM_052989.3(IFT122):c.1993-8C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1 +2 more	GBenign/Likely benign
Select item 194901	NM_052989.3(IFT122):c.1993-7G>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia +3 more	GBenign
Select item 620533	NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter)	IFT122 (R724* +6 more)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 1300938	NM_052989.3(IFT122):c.2046+24T>C	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262269	NM_052989.3(IFT122):c.2046+32A>G	IFT122	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1233154	NM_052989.3(IFT122):c.2046+143C>T	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218044	NM_052989.3(IFT122):c.2047-173G>A	IFT122, LOC126806810	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262270	NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln)	LOC126806810, IFT122 (R738Q +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2506715	NM_052989.3(IFT122):c.2123A>G (p.Glu708Gly)	IFT122, LOC126806810 (E499G +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 343250	NM_052989.3(IFT122):c.2154C>T (p.His718=)	IFT122, LOC126806810	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +2 more	GBenign/Likely benign
Select item 1285685	NM_052989.3(IFT122):c.2208+61G>A	IFT122, LOC126806810	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249747	NM_052989.3(IFT122):c.2208+130G>C	IFT122, LOC126806810	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219982	NM_052989.3(IFT122):c.2208+163C>T	IFT122, LOC126806810	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243609	NM_052989.3(IFT122):c.2208+207G>A	IFT122, LOC126806810	Single nucleotide variant (intron variant)	not provided	GBenign

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