"Ambry Genetics"[submitter] AND "COL9A2"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 876311	NM_001852.4(COL9A2):c.2036G>A (p.Arg679His)	COL9A2 (R679H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1000392	NM_001852.4(COL9A2):c.1985G>A (p.Gly662Asp)	COL9A2 (G662D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 521950	NM_001852.4(COL9A2):c.1972G>A (p.Val658Met)	COL9A2 (V658M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3147835	NM_001852.4(COL9A2):c.1925C>T (p.Ser642Phe)	COL9A2 (S642F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147834	NM_001852.4(COL9A2):c.1902C>G (p.Asn634Lys)	COL9A2 (N634K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393197	NM_001852.4(COL9A2):c.1832G>A (p.Arg611Gln)	COL9A2 (R611Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 874335	NM_001852.4(COL9A2):c.1781C>T (p.Thr594Met)	COL9A2 (T594M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2618955	NM_001852.4(COL9A2):c.1771A>G (p.Ile591Val)	COL9A2 (I591V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607753	NM_001852.4(COL9A2):c.1763T>C (p.Val588Ala)	COL9A2 (V588A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1495774	NM_001852.4(COL9A2):c.1736G>A (p.Arg579Gln)	COL9A2 (R579Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2895073	NM_001852.4(COL9A2):c.1688C>T (p.Pro563Leu)	COL9A2 (P563L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3147833	NM_001852.4(COL9A2):c.1687C>T (p.Pro563Ser)	COL9A2 (P563S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244631	NM_001852.4(COL9A2):c.1664T>G (p.Met555Arg)	COL9A2 (M555R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1378062	NM_001852.4(COL9A2):c.1636C>G (p.Arg546Gly)	COL9A2 (R546G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2854375	NM_001852.4(COL9A2):c.1575C>G (p.Ile525Met)	COL9A2 (I525M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2324303	NM_001852.4(COL9A2):c.1566C>A (p.Asp522Glu)	COL9A2 (D522E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 875262	NM_001852.4(COL9A2):c.1474C>A (p.Pro492Thr)	COL9A2 (P492T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3147832	NM_001852.4(COL9A2):c.1442G>A (p.Gly481Glu)	COL9A2 (G481E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475267	NM_001852.4(COL9A2):c.1399C>G (p.Gln467Glu)	COL9A2 (Q467E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1201165	NM_001852.4(COL9A2):c.1124G>C (p.Arg375Pro)	COL9A2 (R375P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 297302	NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)	COL9A2 (R375G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 1991377	NM_001852.4(COL9A2):c.1013T>C (p.Val338Ala)	COL9A2 (V338A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2188580	NM_001852.4(COL9A2):c.971C>T (p.Ala324Val)	COL9A2 (A324V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 874398	NM_001852.4(COL9A2):c.927T>G (p.Asp309Glu)	COL9A2 (D309E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2481855	NM_001852.4(COL9A2):c.899C>T (p.Thr300Met)	COL9A2 (T300M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1498687	NM_001852.4(COL9A2):c.887C>T (p.Pro296Leu)	COL9A2 (P296L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2418969	NM_001852.4(COL9A2):c.880A>G (p.Thr294Ala)	COL9A2 (T294A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1053228	NM_001852.4(COL9A2):c.769G>A (p.Ala257Thr)	COL9A2 (A257T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1353034	NM_001852.4(COL9A2):c.694G>A (p.Gly232Ser)	COL9A2 (G232S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 804594	NM_001852.4(COL9A2):c.629C>T (p.Pro210Leu)	COL9A2 (P210L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2240653	NM_001852.4(COL9A2):c.476G>T (p.Arg159Leu)	COL9A2 (R159L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256778	NM_001852.4(COL9A2):c.433G>C (p.Asp145His)	COL9A2 (D145H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 297308	NM_001852.4(COL9A2):c.407G>A (p.Arg136Gln)	COL9A2 (R136Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1442161	NM_001852.4(COL9A2):c.398T>C (p.Ile133Thr)	COL9A2 (I133T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1982515	NM_001852.4(COL9A2):c.367C>T (p.Pro123Ser)	COL9A2 (P123S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1353937	NM_001852.4(COL9A2):c.352G>T (p.Ala118Ser)	COL9A2 (A118S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1974080	NM_001852.4(COL9A2):c.338C>T (p.Pro113Leu)	COL9A2, LOC129930257 (P113L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2593864	NM_001852.4(COL9A2):c.305G>A (p.Gly102Asp)	COL9A2 (G102D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3268873	NM_001852.4(COL9A2):c.260G>A (p.Gly87Glu)	COL9A2 (G87E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2612693	NM_001852.4(COL9A2):c.151G>A (p.Gly51Ser)	COL9A2 (G51S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1204660	NM_001852.4(COL9A2):c.124G>A (p.Gly42Arg)	COL9A2, LOC129930261 (G42R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1480073	NM_001852.4(COL9A2):c.122C>T (p.Pro41Leu)	COL9A2, LOC129930261 (P41L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2300235	NM_001852.4(COL9A2):c.64C>G (p.Leu22Val)	COL9A2 (L22V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 45