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

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 328609	NM_000095.3(COMP):c.2227+8G>A	COMP	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia type 1 +3 more	GBenign/Likely benign
Select item 769450	NM_000095.3(COMP):c.2152C>A (p.Arg718=)	COMP	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 777452	NM_000095.3(COMP):c.1956C>T (p.Asn652=)	COMP	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1559952	NM_000095.3(COMP):c.1581G>A (p.Thr527=)	COMP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1702391	NM_000095.3(COMP):c.1521C>A (p.Asp507Glu)	COMP (D507E)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 1497620	NM_000095.3(COMP):c.1331C>G (p.Ser444Cys)	COMP (S444C)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GUncertain significance
Select item 40987	NM_000095.3(COMP):c.1156A>G (p.Asn386Asp)	COMP (N386D)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 1702394	NM_000095.3(COMP):c.768C>A (p.Ala256=)	COMP	Single nucleotide variant (synonymous variant)	Connective tissue disorder	GLikely benign
Select item 197627	NM_000095.3(COMP):c.511G>A (p.Ala171Thr)	COMP (A171T)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 328623	NM_000095.3(COMP):c.410T>C (p.Phe137Ser)	COMP (F137S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1540004	NM_000095.3(COMP):c.382G>A (p.Val128Ile)	COMP (V128I)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 1702393	NM_000095.3(COMP):c.217+4A>G	COMP	Single nucleotide variant (intron variant)	Connective tissue disorder	GUncertain significance
Select item 888609	NM_000095.3(COMP):c.11A>C (p.Asp4Ala)	COMP (D4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity