Related gene-specific medical variations for Gene (Select 55764) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382118	NM_052989.3(IFT122):c.1044C>A (p.Tyr348Ter)	IFT122 (Y139* +6 more)	Single nucleotide variant (nonsense)	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 3363126	NM_052989.3(IFT122):c.998C>A (p.Ser333Tyr)	IFT122 (S124Y +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3362811	NM_052989.3(IFT122):c.2162T>C (p.Leu721Pro)	IFT122, LOC126806810 (L512P +9 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 3361402	NM_052989.3(IFT122):c.1574C>T (p.Ser525Phe)	IFT122 (S316F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360180	NM_052989.3(IFT122):c.2594A>G (p.Tyr865Cys)	IFT122 (Y656C +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3285413	NM_052989.3(IFT122):c.2085T>G (p.Phe695Leu)	IFT122, LOC126806810 (F486L +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246869	NC_000003.11:g.(?_129168694)_(129236457_?)dup	IFT122	Duplication	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 2981043	NM_052989.3(IFT122):c.41+16G>A	IFT122, LOC129937552	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2769095	NM_052989.3(IFT122):c.2163C>T (p.Leu721=)	IFT122, LOC126806810	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2721675	NM_052989.3(IFT122):c.2127C>T (p.Ala709=)	IFT122, LOC126806810	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2714335	NM_052989.3(IFT122):c.39C>T (p.His13=)	IFT122, LOC129937552	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2524669	NM_052989.3(IFT122):c.2180C>T (p.Thr727Ile)	IFT122, LOC126806810 (T598I +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2502831	NM_052989.3(IFT122):c.1288A>G (p.Ile430Val)	IFT122 (I221V +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2432805	NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)	IFT122 (G32R)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2432804	NM_052989.3(IFT122):c.197A>C (p.Lys66Thr)	IFT122 (K66T)	Single nucleotide variant (missense variant +2 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2271904	NM_052989.3(IFT122):c.2203G>A (p.Ala735Thr)	IFT122, LOC126806810 (A585T +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2181653	NM_052989.3(IFT122):c.2208+7T>C	IFT122, LOC126806810	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2149075	NM_052989.3(IFT122):c.2063G>A (p.Gly688Glu)	IFT122, LOC126806810 (G479E +9 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2050766	NM_052989.3(IFT122):c.2087T>G (p.Leu696Arg)	IFT122, LOC126806810 (L546R +9 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1589222	NM_052989.3(IFT122):c.2121T>C (p.His707=)	IFT122, LOC126806810	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1364859	NM_052989.3(IFT122):c.2165C>T (p.Ala722Val)	IFT122, LOC126806810 (A611V +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
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 1243609	NM_052989.3(IFT122):c.2208+207G>A	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 1218044	NM_052989.3(IFT122):c.2047-173G>A	IFT122, LOC126806810	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179190	NM_052989.3(IFT122):c.2285del (p.Lys762fs)	IFT122 (K553fs +6 more)	Deletion (frameshift variant)	Cranioectodermal dysplasia 1	GPathogenic
Select item 1120551	NM_052989.3(IFT122):c.2148T>C (p.Ser716=)	IFT122, LOC126806810	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
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 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 591658	NM_052989.3(IFT122):c.213del (p.Ser72fs)	IFT122 (S72fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 591152	NM_052989.3(IFT122):c.1733dup (p.Lys579fs)	IFT122 (K520fs +6 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 546944	NM_052989.3(IFT122):c.3046C>T (p.Arg1016Trp)	IFT122 (R1067W +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 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 4638	NM_052989.3(IFT122):c.21G>C (p.Trp7Cys)	IFT122, LOC129937552 (W7C)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GPathogenic

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Links from Gene

Items: 41