"Eurofins Ntd Llc (ga)"[submitter] AND "COL9A2"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 291230	NM_001852.4(COL9A2):c.2058C>T (p.Ile686=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GConflicting classifications of pathogenicity
Select item 196777	NM_001852.4(COL9A2):c.2019G>A (p.Ser673=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GConflicting classifications of pathogenicity
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 596148	NM_001852.4(COL9A2):c.1857C>G (p.Pro619=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 594104	NM_001852.4(COL9A2):c.1843G>A (p.Gly615Arg)	COL9A2 (G615R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196620	NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile)	COL9A2 (V581I)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GBenign
Select item 196621	NM_001852.4(COL9A2):c.1604-26CTCC[4]	COL9A2	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 196169	NM_001852.4(COL9A2):c.1576G>A (p.Val526Met)	COL9A2 (V526M)	Single nucleotide variant (missense variant)	Stickler syndrome, type 5 +1 more	GConflicting classifications of pathogenicity
Select item 196170	NM_001852.4(COL9A2):c.1564G>C (p.Asp522His)	COL9A2 (D522H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 593193	NM_001852.4(COL9A2):c.1504G>A (p.Gly502Arg)	COL9A2 (G502R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258374	NM_001852.4(COL9A2):c.1368+16A>G	COL9A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 258370	NM_001852.4(COL9A2):c.1288-12C>T	COL9A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 283517	NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr)	COL9A2 (P407T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 592985	NM_001852.4(COL9A2):c.1093C>T (p.Pro365Ser)	COL9A2 (P365S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195478	NM_001852.4(COL9A2):c.1041C>T (p.Gly347=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GConflicting classifications of pathogenicity
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 282805	NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser)	COL9A2 (G307S)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GUncertain significance
Select item 498500	NM_001852.4(COL9A2):c.846+10C>T	COL9A2	Single nucleotide variant (intron variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GConflicting classifications of pathogenicity
Select item 502434	NM_001852.4(COL9A2):c.802G>T (p.Gly268Cys)	COL9A2 (G268C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502124	NM_001852.4(COL9A2):c.688C>T (p.Pro230Ser)	COL9A2 (P230S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283502	NM_001852.4(COL9A2):c.481G>A (p.Gly161Arg)	COL9A2 (G161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198137	NM_001852.4(COL9A2):c.312C>T (p.Pro104=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GBenign/Likely benign
Select item 297311	NM_001852.4(COL9A2):c.250-7T>C	COL9A2	Single nucleotide variant (intron variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GBenign/Likely benign
Select item 451814	NM_001852.4(COL9A2):c.232G>A (p.Gly78Arg)	COL9A2 (G78R)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GUncertain significance
Select item 195153	NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln)	LOC129930261, COL9A2 (R32Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 193217	NM_001852.4(COL9A2):c.31C>T (p.Leu11Phe)	COL9A2 (L11F)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign

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Items: 28