"COL9A2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 508779	NM_001852.4(COL9A2):c.1962G>T (p.Leu654=)	COL9A2	Single nucleotide variant (synonymous variant)	COL9A2-related disorder +1 more	GLikely benign
Select item 297291	NM_001852.4(COL9A2):c.1834G>A (p.Gly612Arg)	COL9A2 (G612R)	Single nucleotide variant (missense variant)	COL9A2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2635390	NM_001852.4(COL9A2):c.1804G>T (p.Glu602Ter)	COL9A2 (E602*)	Single nucleotide variant (nonsense)	COL9A2-related disorder	GUncertain significance
Select item 3047663	NM_001852.4(COL9A2):c.1792+3G>T	COL9A2	Single nucleotide variant (intron variant)	COL9A2-related disorder	GUncertain significance
Select item 874335	NM_001852.4(COL9A2):c.1781C>T (p.Thr594Met)	COL9A2 (T594M)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +3 more	GConflicting classifications of pathogenicity
Select item 1217758	NM_001852.4(COL9A2):c.1753G>A (p.Val585Met)	COL9A2 (V585M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874336	NM_001852.4(COL9A2):c.1753G>T (p.Val585Leu)	COL9A2 (V585L)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GLikely benign
Select item 1378062	NM_001852.4(COL9A2):c.1636C>G (p.Arg546Gly)	COL9A2 (R546G)	Single nucleotide variant (missense variant)	COL9A2-related disorder +2 more	GUncertain significance
Select item 1081839	NM_001852.4(COL9A2):c.1621G>A (p.Ala541Thr)	COL9A2 (A541T)	Single nucleotide variant (missense variant)	COL9A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 777748	NM_001852.4(COL9A2):c.1604-26CTCC[5]	COL9A2	Microsatellite (intron variant)	COL9A2-related disorder +1 more	GBenign/Likely benign
Select item 1119334	NM_001852.4(COL9A2):c.1480C>T (p.Pro494Ser)	COL9A2 (P494S)	Single nucleotide variant (missense variant)	COL9A2-related disorder +1 more	GLikely benign
Select item 297297	NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)	COL9A2 (Q467R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2628388	NM_001852.4(COL9A2):c.1337T>G (p.Val446Gly)	COL9A2 (V446G)	Single nucleotide variant (missense variant)	COL9A2-related disorder	GUncertain significance
Select item 3044591	NM_001852.4(COL9A2):c.1272C>T (p.Gly424=)	COL9A2	Single nucleotide variant (synonymous variant)	COL9A2-related disorder	GLikely benign
Select item 632106	NM_001852.4(COL9A2):c.1242del (p.Gly415fs)	COL9A2 (G415fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 689606	NM_001852.4(COL9A2):c.1237C>T (p.Pro413Ser)	COL9A2 (P413S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1173040	NM_001852.4(COL9A2):c.1061C>T (p.Pro354Leu)	COL9A2 (P354L)	Single nucleotide variant (missense variant)	COL9A2-related disorder +3 more	GUncertain significance
Select item 3029702	NM_001852.4(COL9A2):c.1051C>T (p.Gln351Ter)	COL9A2 (Q351*)	Single nucleotide variant (nonsense)	COL9A2-related disorder	GLikely pathogenic
Select item 195478	NM_001852.4(COL9A2):c.1041C>T (p.Gly347=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1612553	NM_001852.4(COL9A2):c.1011T>C (p.Gly337=)	COL9A2	Single nucleotide variant (synonymous variant)	COL9A2-related disorder +1 more	GLikely benign
Select item 282805	NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser)	COL9A2 (G307S)	Single nucleotide variant (missense variant)	Stickler syndrome, type 5 +3 more	GConflicting classifications of pathogenicity
Select item 874400	NM_001852.4(COL9A2):c.847-9G>A	COL9A2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1450840	NM_001852.4(COL9A2):c.824G>A (p.Arg275Gln)	COL9A2 (R275Q)	Single nucleotide variant (missense variant)	COL9A2-related disorder +1 more	GUncertain significance
Select item 258391	NM_001852.4(COL9A2):c.544A>G (p.Met182Val)	COL9A2 (M182V)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +4 more	GBenign
Select item 1407632	NM_001852.4(COL9A2):c.497T>C (p.Leu166Pro)	COL9A2 (L166P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1017332	NM_001852.4(COL9A2):c.376C>A (p.Pro126Thr)	COL9A2 (P126T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 445655	NM_001852.4(COL9A2):c.364-16A>G	COL9A2	Single nucleotide variant (intron variant)	COL9A2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1149450	NM_001852.4(COL9A2):c.335T>G (p.Leu112Arg)	COL9A2, LOC129930257 (L112R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2633445	NM_001852.4(COL9A2):c.307C>T (p.Gln103Ter)	COL9A2 (Q103*)	Single nucleotide variant (nonsense)	COL9A2-related disorder	GLikely pathogenic
Select item 2593864	NM_001852.4(COL9A2):c.305G>A (p.Gly102Asp)	COL9A2 (G102D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 740959	NM_001852.4(COL9A2):c.151-8T>C	COL9A2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 2789969	NM_001852.4(COL9A2):c.22C>G (p.Pro8Ala)	COL9A2 (P8A)	Single nucleotide variant (missense variant)	COL9A2-related disorder +1 more	GUncertain significance
Select item 297314	NM_001852.4(COL9A2):c.-43G>A	COL9A2	Single nucleotide variant (5 prime UTR variant)	COL9A2-related disorder +2 more	GLikely benign

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Items: 33