ClinVar for MedGen (Select 481571) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664923	NM_001851.6(COL9A1):c.443G>A (p.Gly148Asp)	COL9A1 (G148D)	Single nucleotide variant (missense variant)	Stickler syndrome, type 4	GUncertain significance
Select item 2664842	NM_001851.6(COL9A1):c.1864G>A (p.Gly622Arg)	COL9A1 (G379R +2 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome, type 4	GUncertain significance
Select item 2664714	NM_001851.6(COL9A1):c.1450-1G>T	COL9A1	Single nucleotide variant (splice acceptor variant)	Stickler syndrome, type 4	GLikely pathogenic
Select item 1805759	NM_001851.6(COL9A1):c.2260G>C (p.Gly754Arg)	COL9A1 (G462R +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome, type 4	GUncertain significance
Select item 1699500	NM_001851.6(COL9A1):c.2284A>G (p.Ile762Val)	COL9A1 (I470V +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome, type 4	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)	not provided +2 more	GUncertain significance
Select item 1388848	NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter)	COL9A1 (W5*)	Single nucleotide variant (nonsense)	Epiphyseal dysplasia, multiple, 6 +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)	Stickler syndrome, type 4 +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)	Epiphyseal dysplasia, multiple, 6 +2 more	GBenign/Likely benign
Select item 1090615	NM_001851.6(COL9A1):c.88+19A>C	COL9A1	Single nucleotide variant (intron variant)	Stickler syndrome, type 4 +3 more	GLikely benign
Select item 1064099	NM_001851.6(COL9A1):c.2404G>A (p.Gly802Ser)	COL9A1 (G510S +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome, type 4 +1 more	GUncertain significance
Select item 1054519	NM_001851.6(COL9A1):c.680C>T (p.Pro227Leu)	COL9A1 (P227L)	Single nucleotide variant (missense variant)	Stickler syndrome, type 4 +2 more	GUncertain significance
Select item 971435	NM_001851.6(COL9A1):c.1150C>T (p.Pro384Ser)	COL9A1, LOC129996692 (P384S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 931840	NM_001851.6(COL9A1):c.2174T>C (p.Val725Ala)	COL9A1 (V482A +2 more)	Single nucleotide variant (missense variant +2 more)	Stickler syndrome, type 4 +1 more	GUncertain significance
Select item 930660	NM_001851.6(COL9A1):c.352C>T (p.Arg118Ter)	COL9A1 (R118*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 597109	NM_001851.6(COL9A1):c.1052C>A (p.Ser351Ter)	COL9A1 (S351* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GLikely pathogenic
Select item 547841	NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)	COL2A1 (G873V +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +15 more	GUncertain significance
Select item 499848	NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys)	COL9A1 (R209K)	Single nucleotide variant (missense variant)	not provided +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 357811	NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)	COL9A1 (P301L +1 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +4 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)	Epiphyseal dysplasia, multiple, 6 +4 more	GBenign/Likely benign
Select item 161449	NM_001851.6(COL9A1):c.1519C>T (p.Arg507Ter)	COL9A1 (R507* +1 more)	Single nucleotide variant (nonsense +1 more)	Connective tissue disorder +1 more	GPathogenic
Select item 17195	NM_001851.6(COL9A1):c.883C>T (p.Arg295Ter)	COL9A1 (R295* +1 more)	Single nucleotide variant (nonsense +1 more)	See cases	GPathogenic
Select item 17194	NM_001851.6(COL9A1):c.876+2dup	COL9A1	Duplication (splice donor variant)	not provided +2 more	GUncertain significance

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Items: 29