"Ambry Genetics"[submitter] AND "COL11A2"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1462244	NM_080680.3(COL11A2):c.4999C>A (p.Arg1667Ser)	COL11A2 (R1560S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1371300	NM_080680.3(COL11A2):c.4951G>T (p.Val1651Phe)	COL11A2 (V1565F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 282710	NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu)	COL11A2 (D1618E +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +6 more	GConflicting classifications of pathogenicity
Select item 2267557	NM_080680.3(COL11A2):c.4837G>T (p.Val1613Leu)	COL11A2 (V1613L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482160	NM_080680.3(COL11A2):c.4753G>C (p.Glu1585Gln)	COL11A2 (E1478Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 178688	NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys)	COL11A2 (R1569C +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1392503	NM_080680.3(COL11A2):c.4516A>G (p.Ile1506Val)	COL11A2 (I1506V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2081736	NM_080680.3(COL11A2):c.4387C>T (p.Leu1463Phe)	COL11A2 (L1377F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1310892	NM_080680.3(COL11A2):c.4384G>A (p.Gly1462Ser)	COL11A2 (G1355S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1312940	NM_080680.3(COL11A2):c.4337T>C (p.Met1446Thr)	COL11A2 (M1339T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1064928	NM_080680.3(COL11A2):c.4202G>A (p.Arg1401Gln)	COL11A2 (R1294Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1196565	NM_080680.3(COL11A2):c.4126C>G (p.Gln1376Glu)	COL11A2 (Q1269E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 505177	NM_080680.3(COL11A2):c.4055C>T (p.Pro1352Leu)	COL11A2 (P1352L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 905304	NM_080680.3(COL11A2):c.3794A>G (p.Asn1265Ser)	COL11A2 (N1179S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2539095	NM_080680.3(COL11A2):c.3752C>T (p.Pro1251Leu)	COL11A2 (P1251L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 356389	NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)	COL11A2 (S1242L +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 2287710	NM_080680.3(COL11A2):c.3719G>C (p.Gly1240Ala)	COL11A2 (G1133A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526000	NM_080680.3(COL11A2):c.3475G>C (p.Gly1159Arg)	COL11A2 (G1159R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1307785	NM_080680.3(COL11A2):c.3446A>G (p.Asn1149Ser)	COL11A2 (N1042S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2557240	NM_080680.3(COL11A2):c.3413G>A (p.Gly1138Glu)	COL11A2 (G1031E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1218502	NM_080680.3(COL11A2):c.3343C>A (p.Pro1115Thr)	COL11A2 (P1008T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2266915	NM_080680.3(COL11A2):c.3125G>A (p.Gly1042Glu)	COL11A2 (G956E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1004012	NM_080680.3(COL11A2):c.3110C>T (p.Pro1037Leu)	COL11A2 (P1037L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1424222	NM_080680.3(COL11A2):c.2849C>T (p.Pro950Leu)	COL11A2 (P843L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1306116	NM_080680.3(COL11A2):c.2669C>T (p.Pro890Leu)	COL11A2 (P783L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2144971	NM_080680.3(COL11A2):c.2647G>A (p.Gly883Ser)	COL11A2 (G797S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2264957	NM_080680.3(COL11A2):c.2623G>A (p.Glu875Lys)	COL11A2 (E875K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608913	NM_080680.3(COL11A2):c.2597G>A (p.Gly866Asp)	COL11A2 (G524D +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233982	NM_080680.3(COL11A2):c.2593G>C (p.Gly865Arg)	COL11A2 (G758R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1438058	NM_080680.3(COL11A2):c.2533C>T (p.Pro845Ser)	COL11A2 (P738S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 505130	NM_080680.3(COL11A2):c.2495G>A (p.Gly832Glu)	COL11A2 (G832E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 208730	NM_080680.3(COL11A2):c.2268+1G>T	COL11A2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1398032	NM_080680.3(COL11A2):c.2179G>A (p.Gly727Arg)	COL11A2 (G727R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2327209	NM_080680.3(COL11A2):c.1921C>A (p.Pro641Thr)	COL11A2 (P555T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318165	NM_080680.3(COL11A2):c.1795C>T (p.Pro599Ser)	COL11A2 (P492S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 194797	NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln)	COL11A2 (R546Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2550797	NM_080680.3(COL11A2):c.1244T>G (p.Ile415Ser)	COL11A2 (I308S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528371	NM_080680.3(COL11A2):c.1071G>T (p.Glu357Asp)	COL11A2 (E357D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 906412	NM_080680.3(COL11A2):c.920T>A (p.Leu307His)	COL11A2 (L281H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2404736	NM_080680.3(COL11A2):c.679G>A (p.Glu227Lys)	COL11A2 (E227K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 547213	NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)	COL11A2 (V182I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 439497	NM_080680.3(COL11A2):c.539G>A (p.Arg180His)	COL11A2 (R180H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2258446	NM_080680.3(COL11A2):c.392C>T (p.Pro131Leu)	COL11A2 (P131L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519763	NM_080680.3(COL11A2):c.358G>A (p.Val120Ile)	COL11A2 (V120I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2238099	NM_080680.3(COL11A2):c.349G>C (p.Gly117Arg)	COL11A2 (G117R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 226533	NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln)	COL11A2 (P77Q)	Single nucleotide variant (missense variant)	Connective tissue disorder +7 more	GConflicting classifications of pathogenicity
Select item 1493246	NM_080680.3(COL11A2):c.185T>C (p.Val62Ala)	COL11A2 (V62A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1386768	NM_080680.3(COL11A2):c.107G>A (p.Arg36Gln)	COL11A2 (R36Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 48