"Eurofins Ntd Llc (ga)"[submitter] AND "IFT122"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 282987	NM_052989.3(IFT122):c.229G>A (p.Val77Ile)	IFT122 (V77I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197865	NM_052989.3(IFT122):c.273-308A>T	IFT122 (R113S)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 288141	NM_052989.3(IFT122):c.669C>T (p.Tyr223=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 597650	NM_052989.3(IFT122):c.778G>C (p.Gly260Arg)	IFT122 (G311R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283081	NM_052989.3(IFT122):c.978G>A (p.Thr326=)	IFT122	Single nucleotide variant (synonymous variant)	not provided +1 more	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 497275	NM_052989.3(IFT122):c.1084C>G (p.Arg362Gly)	IFT122 (R413G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 497915	NM_052989.3(IFT122):c.1148-7T>C	IFT122	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 593588	NM_052989.3(IFT122):c.1148-1G>C	IFT122	Single nucleotide variant (splice acceptor variant)	Cranioectodermal dysplasia 1 +1 more	GPathogenic/Likely pathogenic
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 597651	NM_052989.3(IFT122):c.1488+10C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 595634	NM_052989.3(IFT122):c.1526T>C (p.Val509Ala)	IFT122 (V560A +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 497280	NM_052989.3(IFT122):c.1976T>C (p.Phe659Ser)	IFT122 (F710S +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 194796	NM_052989.3(IFT122):c.1992+7A>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 194901	NM_052989.3(IFT122):c.1993-7G>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia +2 more	GBenign
Select item 281344	NM_052989.3(IFT122):c.2035del (p.Ser679fs)	IFT122 (S529fs +6 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 195537	NM_052989.3(IFT122):c.2245A>T (p.Met749Leu)	IFT122 (M800L +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 195782	NM_052989.3(IFT122):c.2720C>T (p.Ala907Val)	IFT122 (A958V +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
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 195780	NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp)	IFT122 (Y968D +6 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 499444	NM_052989.3(IFT122):c.3023C>T (p.Ala1008Val)	IFT122 (A1059V +6 more)	Single nucleotide variant (missense variant)	not provided	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 196048	NM_052989.3(IFT122):c.3244A>G (p.Ile1082Val)	IFT122 (I1133V +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
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 196634	NM_052989.3(IFT122):c.3546C>T (p.Leu1182=)	IFT122	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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Items: 29