ClinVar for MedGen (Select 436517) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444431	NM_001851.6(COL9A1):c.911del (p.Pro304fs)	COL9A1 (P304fs +1 more)	Deletion (frameshift variant +1 more)	Epiphyseal dysplasia, multiple, 6	GLikely pathogenic
Select item 2429461	NM_001851.6(COL9A1):c.287G>A (p.Arg96Lys)	COL9A1 (R96K)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 6	GUncertain significance
Select item 1493374	NM_001851.6(COL9A1):c.2552A>G (p.Asn851Ser)	COL9A1 (N559S +3 more)	Single nucleotide variant (missense variant +1 more)	Epiphyseal dysplasia, multiple, 6 +2 more	GUncertain significance
Select item 1388848	NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter)	COL9A1 (W5*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1381175	NM_001851.6(COL9A1):c.2270C>T (p.Pro757Leu)	COL9A1 (P524L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1354895	NM_001851.6(COL9A1):c.73G>C (p.Val25Leu)	COL9A1 (V25L)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 6 +2 more	GUncertain significance
Select item 1318479	NM_001851.6(COL9A1):c.2228C>T (p.Ala743Val)	COL9A1 (A500V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1170057	NM_001851.6(COL9A1):c.2079+7dup	COL9A1	Duplication (intron variant)	Stickler syndrome, type 4 +2 more	GBenign/Likely benign
Select item 1090615	NM_001851.6(COL9A1):c.88+19A>C	COL9A1	Single nucleotide variant (intron variant)	Epiphyseal dysplasia, multiple, 6 +3 more	GLikely benign
Select item 1054519	NM_001851.6(COL9A1):c.680C>T (p.Pro227Leu)	COL9A1 (P227L)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 6 +2 more	GUncertain significance
Select item 677878	NM_001851.6(COL9A1):c.877-23C>G	COL9A1	Single nucleotide variant (intron variant)	Epiphyseal dysplasia, multiple, 6 +1 more	GBenign
Select item 547841	NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)	COL2A1 (G873V +1 more)	Single nucleotide variant (missense variant)	Avascular necrosis of femoral head, primary, 1 +15 more	GUncertain significance
Select item 499848	NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys)	COL9A1 (R209K)	Single nucleotide variant (missense variant)	Stickler syndrome, type 4 +2 more	GUncertain significance
Select item 451031	NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser)	COL9A1 (G875S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 449774	NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln)	COL9A1 (R118Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 374336	NM_001851.6(COL9A1):c.876+2T>A	COL9A1	Single nucleotide variant (splice donor variant)	COL9A1-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 282983	NM_001851.6(COL9A1):c.1634G>A (p.Arg545His)	COL9A1 (R545H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 258359	NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr)	COL9A1 (P824T +3 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 258357	NM_001851.6(COL9A1):c.2259+32T>C	COL9A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 258354	NM_001851.6(COL9A1):c.2034+19T>C	COL9A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 258353	NM_001851.6(COL9A1):c.1862A>G (p.Gln621Arg)	COL9A1 (Q621R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 258352	NM_001851.6(COL9A1):c.1765-26T>C	COL9A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 258351	NM_001851.6(COL9A1):c.1765-21G>A	COL9A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 258350	NM_001851.6(COL9A1):c.1720-24A>C	COL9A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 258346	NM_001851.6(COL9A1):c.1612-26C>A	COL9A1	Single nucleotide variant (intron variant)	Epiphyseal dysplasia, multiple, 6 +2 more	GBenign
Select item 258344	NM_001851.6(COL9A1):c.1504-32T>G	COL9A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 258341	NM_001851.6(COL9A1):c.1230+12T>C	COL9A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 258335	NM_001851.6(COL9A1):c.1015T>C (p.Ser339Pro)	COL9A1 (S339P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 195957	NM_001851.6(COL9A1):c.1728T>G (p.Pro576=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 194938	NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly)	COL9A1 (E450G +1 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 17194	NM_001851.6(COL9A1):c.876+2dup	COL9A1	Duplication (splice donor variant)	not specified +3 more	GUncertain significance

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Items: 31