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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1702507	NM_024753.5(TTC21B):c.3856A>G (p.Ile1286Val)	TTC21B (I1286V)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 704930	NM_024753.5(TTC21B):c.3702T>C (p.Tyr1234=)	TTC21B	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 261781	NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=)	TTC21B	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GConflicting classifications of pathogenicity
Select item 130655	NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=)	TTC21B	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GBenign
Select item 261780	NM_024753.5(TTC21B):c.3416T>C (p.Val1139Ala)	TTC21B (V1139A)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 195777	NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)	TTC21B (L1002V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 130654	NM_024753.5(TTC21B):c.2742C>T (p.Cys914=)	TTC21B	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GBenign
Select item 195530	NM_024753.5(TTC21B):c.2569-10dup	TTC21B	Duplication (intron variant)	Familial aplasia of the vermis +5 more	GBenign/Likely benign
Select item 331827	NM_024753.5(TTC21B):c.2472G>A (p.Leu824=)	TTC21B	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1702506	NM_024753.5(TTC21B):c.2431G>T (p.Val811Phe)	TTC21B (V811F)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 96138	NM_024753.5(TTC21B):c.2385G>C (p.Leu795=)	TTC21B	Single nucleotide variant (synonymous variant)	Nephronophthisis 12 +6 more	GBenign
Select item 130653	NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=)	TTC21B	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 220095	NM_024753.5(TTC21B):c.2322+3A>G	TTC21B	Single nucleotide variant (intron variant)	Connective tissue disorder +7 more	GBenign/Likely benign
Select item 379762	NM_024753.5(TTC21B):c.1965G>A (p.Arg655=)	TTC21B	Single nucleotide variant (synonymous variant)	Nephronophthisis 12 +6 more	GBenign/Likely benign
Select item 130651	NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys)	TTC21B (R616C)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GConflicting classifications of pathogenicity
Select item 1019751	NM_024753.5(TTC21B):c.1768A>G (p.Met590Val)	TTC21B (M590V)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GUncertain significance
Select item 96137	NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe)	TTC21B (L473F)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +6 more	GBenign
Select item 130649	NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser)	TTC21B (P463S)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GBenign
Select item 1702509	NM_024753.5(TTC21B):c.946G>T (p.Ala316Ser)	TTC21B (A316S)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GUncertain significance
Select item 583234	NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys)	TTC21B (R301C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 130661	NM_024753.5(TTC21B):c.838A>G (p.Met280Val)	TTC21B (M280V)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 130658	NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)	TTC21B-AS1, TTC21B (Q222L)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 528908	NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg)	TTC21B, TTC21B-AS1 (G171R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 130648	NM_024753.5(TTC21B):c.114C>G (p.Val38=)	TTC21B	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24