"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1702447	NM_052989.3(IFT122):c.536T>G (p.Ile179Arg)	IFT122 (I127R +3 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 1702448	NM_052989.3(IFT122):c.616A>G (p.Ile206Val)	IFT122 (I206V +2 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder	GUncertain significance
Select item 1626335	NM_052989.3(IFT122):c.732C>T (p.Asp244=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +1 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)	Rod-cone dystrophy +4 more	GBenign/Likely benign
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 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 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 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 1702440	NM_052989.3(IFT122):c.2315T>A (p.Ile772Asn)	IFT122 (I563N +6 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +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 1702441	NM_052989.3(IFT122):c.2596A>G (p.Met866Val)	IFT122 (M657V +6 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 530931	NM_052989.3(IFT122):c.2682G>A (p.Ala894=)	IFT122	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1702442	NM_052989.3(IFT122):c.2803_2805del (p.Lys935del)	IFT122 (K726del +6 more)	Deletion (inframe_deletion)	Connective tissue disorder	GUncertain significance
Select item 1702443	NM_052989.3(IFT122):c.2988-6C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 715124	NM_052989.3(IFT122):c.3051C>T (p.His1017=)	IFT122	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 1702444	NM_052989.3(IFT122):c.3127C>A (p.Arg1043Ser)	IFT122 (R1036S +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)	not specified +3 more	GConflicting classifications of pathogenicity
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 1702445	NM_052989.3(IFT122):c.3343G>T (p.Val1115Leu)	IFT122 (V1005L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 283739	NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile)	IFT122 (F1214I +6 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity

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Items: 22