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

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258383	NM_001852.4(COL9A2):c.2001C>T (p.Ala667=)	COL9A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 196778	NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu)	COL9A2 (P661L)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +3 more	GConflicting classifications of pathogenicity
Select item 258382	NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr)	COL9A2 (P661T)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 297290	NM_001852.4(COL9A2):c.1870+9T>C	COL9A2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 297292	NM_001852.4(COL9A2):c.1824A>G (p.Glu608=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2 +3 more	GLikely benign
Select item 1626641	NM_001852.4(COL9A2):c.1782G>A (p.Thr594=)	COL9A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 1587565	NM_001852.4(COL9A2):c.1761C>T (p.Ala587=)	COL9A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 1702386	NM_001852.4(COL9A2):c.1701A>T (p.Pro567=)	COL9A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder	GUncertain significance
Select item 1702385	NM_001852.4(COL9A2):c.1696T>C (p.Tyr566His)	COL9A2 (Y566H)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 1702384	NM_001852.4(COL9A2):c.1691_1692insA (p.Gly565fs)	COL9A2 (G565fs)	Insertion (frameshift variant)	Connective tissue disorder	GUncertain significance
Select item 1167800	NM_001852.4(COL9A2):c.1604-26CTCC[7]	COL9A2	Microsatellite (intron variant)	not provided +3 more	GBenign
Select item 196171	NM_001852.4(COL9A2):c.1551C>T (p.Gly517=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 258367	NM_001852.4(COL9A2):c.1161+10T>A	COL9A2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 258366	NM_001852.4(COL9A2):c.1150A>C (p.Met384Leu)	COL9A2 (M384L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1086892	NM_001852.4(COL9A2):c.1068G>A (p.Pro356=)	COL9A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 1173040	NM_001852.4(COL9A2):c.1061C>T (p.Pro354Leu)	COL9A2 (P354L)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GUncertain significance
Select item 194939	NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu)	COL9A2 (A336E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 258397	NM_001852.4(COL9A2):c.955-4C>G	COL9A2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 258394	NM_001852.4(COL9A2):c.738+10T>C	COL9A2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 258393	NM_001852.4(COL9A2):c.737C>T (p.Thr246Met)	COL9A2 (T246M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 258391	NM_001852.4(COL9A2):c.544A>G (p.Met182Val)	COL9A2 (M182V)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +3 more	GBenign/Likely benign

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Items: 21