C0432235[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 343225	NM_052985.3(IFT122):c.-210C>A	IFT122	Single nucleotide variant	Cranioectodermal dysplasia 1 +1 more	GBenign/Likely benign
Select item 343226	NM_052985.3(IFT122):c.-206A>G	IFT122	Single nucleotide variant	not provided +1 more	GBenign
Select item 901320	NM_052985.3(IFT122):c.-145T>A	IFT122	Single nucleotide variant	Cranioectodermal dysplasia 1	GUncertain significance
Select item 901866	NM_052989.3(IFT122):c.-22C>A	IFT122, LOC129937552	Single nucleotide variant (5 prime UTR variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343227	NM_052989.3(IFT122):c.-3G>A	IFT122, LOC129937552	Single nucleotide variant (5 prime UTR variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 291273	NM_052989.3(IFT122):c.41+15G>T	IFT122, LOC129937552	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 901867	NM_052989.3(IFT122):c.54C>T (p.Ile18=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343228	NM_052989.3(IFT122):c.109-15T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia +2 more	GBenign/Likely benign
Select item 343229	NM_052989.3(IFT122):c.132C>G (p.Thr44=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 343230	NM_052989.3(IFT122):c.199C>A (p.Arg67Ser)	IFT122 (R67S)	Single nucleotide variant (missense variant +2 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343231	NM_052989.3(IFT122):c.214T>G (p.Ser72Ala)	IFT122 (S72A)	Single nucleotide variant (missense variant +2 more)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 343232	NM_052989.3(IFT122):c.228C>T (p.Ser76=)	IFT122	Single nucleotide variant (synonymous variant +2 more)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 902768	NM_052989.3(IFT122):c.273-260T>C	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343233	NM_052989.3(IFT122):c.321A>G (p.Gln107=)	IFT122	Single nucleotide variant (synonymous variant +2 more)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 343234	NM_052989.3(IFT122):c.475C>T (p.Arg159Trp)	IFT122 (R210W +3 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 631905	NM_052989.3(IFT122):c.552del (p.Cys183_Trp184insTer)	IFT122	Deletion (nonsense)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 581786	NM_052989.3(IFT122):c.565C>T (p.Arg189Ter)	IFT122 (R240* +2 more)	Single nucleotide variant (nonsense +1 more)	IFT122-related condition +1 more	GConflicting classifications of pathogenicity
Select item 283378	NM_052989.3(IFT122):c.617T>C (p.Ile206Thr)	IFT122 (I257T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 262273	NM_052989.3(IFT122):c.740+15G>A	IFT122	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 900217	NM_052989.3(IFT122):c.752A>G (p.Asn251Ser)	IFT122 (N140S +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 775028	NM_052989.3(IFT122):c.783G>A (p.Gln261=)	IFT122	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 343235	NM_052989.3(IFT122):c.829C>T (p.Arg277Trp)	IFT122 (R328W +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 900218	NM_052989.3(IFT122):c.876C>T (p.Gly292=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 343236	NM_052989.3(IFT122):c.938G>A (p.Arg313Gln)	IFT122 (R364Q +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 343237	NM_052989.3(IFT122):c.1009-14C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 262266	NM_052989.3(IFT122):c.1026C>T (p.Asp342=)	IFT122	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194126	NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn)	IFT122 (S419N +6 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 461790	NM_052989.3(IFT122):c.1113C>T (p.Asp371=)	IFT122	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 343238	NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp)	IFT122 (R435W +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	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 343240	NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu)	IFT122 (K483E +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 343241	NM_052989.3(IFT122):c.1533G>A (p.Leu511=)	IFT122	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 343242	NM_052989.3(IFT122):c.1553G>A (p.Arg518His)	IFT122 (R569H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 901924	NM_052989.3(IFT122):c.1570G>A (p.Ala524Thr)	IFT122 (A516T +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 901925	NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys)	IFT122 (R518C +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 262268	NM_052989.3(IFT122):c.1654-12C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia +2 more	GBenign
Select item 343243	NM_052989.3(IFT122):c.1713G>T (p.Ser571=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia +3 more	GBenign/Likely benign
Select item 343244	NM_052989.3(IFT122):c.1758C>G (p.His586Gln)	IFT122 (H637Q +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 343245	NM_052989.3(IFT122):c.1800C>T (p.Ser600=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 707440	NM_052989.3(IFT122):c.1854C>T (p.Ser618=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +2 more	GBenign/Likely benign
Select item 343246	NM_052989.3(IFT122):c.1884A>T (p.Lys628Asn)	IFT122 (K679N +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 211179	NM_052989.3(IFT122):c.1908T>C (p.Ile636=)	IFT122	Single nucleotide variant (synonymous variant)	IFT122-related condition +3 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 211180	NM_052989.3(IFT122):c.1993-8C>T	IFT122	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 194901	NM_052989.3(IFT122):c.1993-7G>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia +2 more	GBenign
Select item 343248	NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln)	IFT122 (R724Q +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343249	NM_052989.3(IFT122):c.2055G>T (p.Lys685Asn)	IFT122, LOC126806810 (K736N +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
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 901429	NM_052989.3(IFT122):c.2138A>G (p.Tyr713Cys)	IFT122, LOC126806810 (Y504C +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343250	NM_052989.3(IFT122):c.2154C>T (p.His718=)	LOC126806810, IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +2 more	GBenign/Likely benign
Select item 343251	NM_052989.3(IFT122):c.2181C>T (p.Thr727=)	IFT122, LOC126806810	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 252770	NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr)	IFT122 (K816T +6 more)	Single nucleotide variant (missense variant)	IFT122-related condition +2 more	GBenign/Likely benign
Select item 343252	NM_052989.3(IFT122):c.2304G>A (p.Val768=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 707457	NM_052989.3(IFT122):c.2349C>A (p.Ile783=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +1 more	GBenign/Likely benign
Select item 901987	NM_052989.3(IFT122):c.2389G>A (p.Ala797Thr)	IFT122 (A738T +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 901988	NM_052989.3(IFT122):c.2393G>A (p.Arg798His)	IFT122 (R739H +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 343253	NM_052989.3(IFT122):c.2415C>T (p.Arg805=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +2 more	GBenign/Likely benign
Select item 343254	NM_052989.3(IFT122):c.2433C>T (p.Cys811=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 901989	NM_052989.3(IFT122):c.2523C>T (p.His841=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 901990	NM_052989.3(IFT122):c.2575G>C (p.Glu859Gln)	IFT122 (E748Q +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343255	NM_052989.3(IFT122):c.2577G>A (p.Glu859=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 343256	NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu)	IFT122 (P918L +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343257	NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys)	IFT122 (R928C +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia +1 more	GUncertain significance
Select item 902885	NM_052989.3(IFT122):c.2643C>T (p.Ala881=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 343258	NM_052989.3(IFT122):c.2681C>T (p.Ala894Val)	IFT122 (A945V +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 530931	NM_052989.3(IFT122):c.2682G>A (p.Ala894=)	IFT122	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	GBenign/Likely benign
Select item 195781	NM_052989.3(IFT122):c.2721G>A (p.Ala907=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 902886	NM_052989.3(IFT122):c.2798C>A (p.Ala933Asp)	IFT122 (A783D +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343259	NM_052989.3(IFT122):c.2840G>A (p.Arg947His)	IFT122 (R998H +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 902887	NM_052989.3(IFT122):c.2881C>G (p.His961Asp)	IFT122 (H752D +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 902888	NM_052989.3(IFT122):c.3049C>A (p.His1017Asn)	IFT122 (H1010N +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 900331	NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys)	IFT122 (Y810C +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 343260	NM_052989.3(IFT122):c.3128G>A (p.Arg1043His)	IFT122 (R1094H +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 195991	NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)	IFT122	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 343261	NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val)	IFT122 (A1095V +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343262	NM_052989.3(IFT122):c.3154-9G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 900332	NM_052989.3(IFT122):c.3194C>T (p.Pro1065Leu)	IFT122 (P1116L +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 631906	NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys)	IFT122 (R1129C +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343263	NM_052989.3(IFT122):c.3252C>T (p.Ser1084=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343264	NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys)	IFT122 (Y1139C +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343265	NM_052989.3(IFT122):c.3265+7C>T	IFT122	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 343266	NM_052989.3(IFT122):c.3268G>A (p.Val1090Met)	IFT122 (V1141M +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 343267	NM_052989.3(IFT122):c.3303G>T (p.Gly1101=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +1 more	GBenign/Likely benign
Select item 901487	NM_052989.3(IFT122):c.3391+6C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 901488	NM_052989.3(IFT122):c.3404T>C (p.Leu1135Pro)	IFT122 (L1076P +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 211181	NM_052989.3(IFT122):c.3432C>T (p.Ile1144=)	IFT122	Single nucleotide variant (synonymous variant)	IFT122-related condition +3 more	GBenign/Likely benign
Select item 901489	NM_052989.3(IFT122):c.3446C>T (p.Pro1149Leu)	IFT122 (P1039L +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 283739	NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile)	IFT122 (F1214I +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 343268	NM_052989.3(IFT122):c.3533G>A (p.Arg1178His)	IFT122 (R1229H +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 343269	NM_052989.3(IFT122):c.3570G>T (p.Leu1190=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 343270	NM_052989.3(IFT122):c.3636+3A>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 902060	NM_052989.3(IFT122):c.3698G>A (p.Arg1233His)	IFT122 (R1226H +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 902061	NM_052989.3(IFT122):c.3711T>C (p.Asp1237=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343271	NM_052989.3(IFT122):c.*16C>T	IFT122	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 902062	NM_052989.3(IFT122):c.*121G>T	IFT122	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 902063	NM_052989.3(IFT122):c.*142C>G	IFT122	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 902941	NM_052989.3(IFT122):c.*241C>G	IFT122	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 1	GUncertain significance

ClinVar

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Items: 99