COL20A1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2538317	NM_020882.4(COL20A1):c.24C>A (p.His8Gln)	COL20A1 (H8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147382	NM_020882.4(COL20A1):c.73C>G (p.Gln25Glu)	COL20A1 (Q25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570266	NM_020882.4(COL20A1):c.103G>C (p.Ala35Pro)	COL20A1 (A35P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297754	NM_020882.4(COL20A1):c.256A>C (p.Ser86Arg)	COL20A1 (S86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147368	NM_020882.4(COL20A1):c.283A>G (p.Ile95Val)	COL20A1 (I95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147373	NM_020882.4(COL20A1):c.308G>C (p.Arg103Pro)	COL20A1 (R103P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147377	NM_020882.4(COL20A1):c.329A>C (p.Glu110Ala)	COL20A1 (E110A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284048	NM_020882.4(COL20A1):c.358T>A (p.Ser120Thr)	COL20A1 (S120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147381	NM_020882.4(COL20A1):c.388G>A (p.Gly130Ser)	COL20A1 (G130S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1174522	NM_020882.4(COL20A1):c.392C>G (p.Ser131Cys)	COL20A1 (S131C)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma i, striate, focal, or diffuse	GUncertain significance
Select item 2273183	NM_020882.4(COL20A1):c.413C>G (p.Pro138Arg)	COL20A1 (P138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787606	NM_020882.4(COL20A1):c.423G>A (p.Thr141=)	COL20A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2652520	NM_020882.4(COL20A1):c.525C>T (p.Pro175=)	COL20A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2527989	NM_020882.4(COL20A1):c.682C>G (p.Gln228Glu)	COL20A1 (Q228E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370400	NM_020882.4(COL20A1):c.740G>A (p.Arg247His)	COL20A1 (R247H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147383	NM_020882.4(COL20A1):c.749G>A (p.Arg250His)	COL20A1 (R250H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147384	NM_020882.4(COL20A1):c.793G>A (p.Val265Met)	COL20A1 (V265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652521	NM_020882.4(COL20A1):c.811C>G (p.Gln271Glu)	COL20A1 (Q271E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3147385	NM_020882.4(COL20A1):c.845A>G (p.Lys282Arg)	COL20A1 (K282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752588	NM_020882.4(COL20A1):c.864G>A (p.Thr288=)	COL20A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2652522	NM_020882.4(COL20A1):c.867C>T (p.Asp289=)	COL20A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601625	NM_020882.4(COL20A1):c.901C>T (p.Arg301Cys)	COL20A1 (R301C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549061	NM_020882.4(COL20A1):c.922G>A (p.Val308Met)	COL20A1 (V308M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588957	NM_020882.4(COL20A1):c.928G>A (p.Val310Ile)	COL20A1 (V310I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2496405	NM_020882.4(COL20A1):c.986C>T (p.Pro329Leu)	COL20A1 (P329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393304	NM_020882.4(COL20A1):c.1033G>A (p.Gly345Ser)	COL20A1 (G345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529337	NM_020882.4(COL20A1):c.1068C>G (p.Cys356Trp)	COL20A1 (C356W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588576	NM_020882.4(COL20A1):c.1091C>T (p.Pro364Leu)	COL20A1 (P364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147348	NM_020882.4(COL20A1):c.1109C>T (p.Ala370Val)	COL20A1 (A370V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147349	NM_020882.4(COL20A1):c.1118C>T (p.Ala373Val)	COL20A1 (A373V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314995	NM_020882.4(COL20A1):c.1160A>G (p.Gln387Arg)	COL20A1 (Q387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353645	NM_020882.4(COL20A1):c.1168T>A (p.Ser390Thr)	COL20A1 (S390T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364986	NM_020882.4(COL20A1):c.1181G>T (p.Arg394Leu)	COL20A1 (R394L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147350	NM_020882.4(COL20A1):c.1198G>A (p.Ala400Thr)	COL20A1 (A400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221678	NM_020882.4(COL20A1):c.1205G>A (p.Arg402Gln)	COL20A1 (R402Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261709	NM_020882.4(COL20A1):c.1228G>A (p.Val410Ile)	COL20A1 (V410I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550530	NM_020882.4(COL20A1):c.1274A>G (p.Glu425Gly)	COL20A1 (E425G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147351	NM_020882.4(COL20A1):c.1285G>A (p.Ala429Thr)	COL20A1 (A429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147352	NM_020882.4(COL20A1):c.1292C>T (p.Thr431Met)	COL20A1 (T431M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147353	NM_020882.4(COL20A1):c.1301A>G (p.His434Arg)	COL20A1 (H434R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147354	NM_020882.4(COL20A1):c.1304A>G (p.Asn435Ser)	COL20A1 (N435S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147355	NM_020882.4(COL20A1):c.1313C>G (p.Ser438Cys)	COL20A1 (S438C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206018	NM_020882.4(COL20A1):c.1316G>T (p.Arg439Leu)	COL20A1 (R439L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147356	NM_020882.4(COL20A1):c.1357G>A (p.Gly453Arg)	COL20A1 (G453R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652523	NM_020882.4(COL20A1):c.1394-8C>A	COL20A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3147357	NM_020882.4(COL20A1):c.1447G>A (p.Val483Ile)	COL20A1 (V483I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364804	NM_020882.4(COL20A1):c.1483C>T (p.His495Tyr)	COL20A1 (H495Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358496	NM_020882.4(COL20A1):c.1484A>G (p.His495Arg)	COL20A1 (H495R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147358	NM_020882.4(COL20A1):c.1499G>A (p.Cys500Tyr)	COL20A1 (C500Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652524	NM_020882.4(COL20A1):c.1510T>G (p.Ser504Ala)	COL20A1 (S504A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3147359	NM_020882.4(COL20A1):c.1535G>A (p.Arg512Gln)	COL20A1 (R512Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330266	NM_020882.4(COL20A1):c.1545G>C (p.Gln515His)	COL20A1 (Q515H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454406	NM_020882.4(COL20A1):c.1604C>T (p.Ser535Leu)	COL20A1 (S535L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461363	NM_020882.4(COL20A1):c.1651C>T (p.Arg551Cys)	COL20A1 (R551C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511363	NM_020882.4(COL20A1):c.1702G>A (p.Val568Met)	COL20A1 (V568M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348287	NM_020882.4(COL20A1):c.1714G>A (p.Ala572Thr)	COL20A1 (A572T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147360	NM_020882.4(COL20A1):c.1739C>T (p.Ala580Val)	COL20A1 (A580V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511769	NM_020882.4(COL20A1):c.1753C>T (p.Arg585Cys)	COL20A1 (R585C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320317	NM_020882.4(COL20A1):c.1792C>T (p.His598Tyr)	COL20A1 (H598Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553417	NM_020882.4(COL20A1):c.1960T>C (p.Ser654Pro)	COL20A1 (S654P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374255	NM_020882.4(COL20A1):c.1967C>T (p.Thr656Met)	COL20A1 (T656M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147361	NM_020882.4(COL20A1):c.1988T>C (p.Val663Ala)	COL20A1 (V663A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397384	NM_020882.4(COL20A1):c.2008G>A (p.Ala670Thr)	COL20A1 (A670T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480212	NM_020882.4(COL20A1):c.2048C>T (p.Thr683Met)	COL20A1 (T683M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287160	NM_020882.4(COL20A1):c.2101A>C (p.Thr701Pro)	COL20A1 (T701P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570121	NM_020882.4(COL20A1):c.2252C>T (p.Ser751Leu)	COL20A1 (S751L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588968	NM_020882.4(COL20A1):c.2263G>A (p.Asp755Asn)	COL20A1 (D755N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147362	NM_020882.4(COL20A1):c.2266A>C (p.Ser756Arg)	COL20A1 (S756R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147364	NM_020882.4(COL20A1):c.2386G>A (p.Val796Met)	COL20A1 (V796M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551642	NM_020882.4(COL20A1):c.2426T>C (p.Val809Ala)	COL20A1 (V809A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147365	NM_020882.4(COL20A1):c.2467G>A (p.Val823Met)	COL20A1 (V823M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519314	NM_020882.4(COL20A1):c.2494C>G (p.Pro832Ala)	COL20A1 (P832A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377980	NM_020882.4(COL20A1):c.2578C>T (p.Arg860Trp)	COL20A1 (R860W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365606	NM_020882.4(COL20A1):c.2668G>A (p.Val890Ile)	COL20A1 (V890I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540335	NM_020882.4(COL20A1):c.2674C>T (p.Pro892Ser)	COL20A1 (P892S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147366	NM_020882.4(COL20A1):c.2689C>T (p.Pro897Ser)	COL20A1 (P897S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214522	NM_020882.4(COL20A1):c.2704G>A (p.Val902Ile)	COL20A1 (V902I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382762	NM_020882.4(COL20A1):c.2738G>A (p.Arg913His)	COL20A1 (R913H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147367	NM_020882.4(COL20A1):c.2749G>A (p.Ala917Thr)	COL20A1 (A917T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360461	NM_020882.4(COL20A1):c.2767G>A (p.Ala923Thr)	COL20A1 (A923T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404059	NM_020882.4(COL20A1):c.2807C>T (p.Ala936Val)	COL20A1 (A936V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244856	NM_020882.4(COL20A1):c.2836C>T (p.Arg946Cys)	COL20A1 (R946C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254847	NM_020882.4(COL20A1):c.2864C>T (p.Ala955Val)	COL20A1 (A955V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147369	NM_020882.4(COL20A1):c.2917G>A (p.Val973Met)	COL20A1 (V973M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147370	NM_020882.4(COL20A1):c.2921A>T (p.His974Leu)	COL20A1 (H974L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374573	NM_020882.4(COL20A1):c.2923G>A (p.Val975Met)	COL20A1 (V975M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267376	NM_020882.4(COL20A1):c.2935C>T (p.Arg979Cys)	COL20A1 (R979C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147371	NM_020882.4(COL20A1):c.2936G>A (p.Arg979His)	COL20A1 (R979H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147372	NM_020882.4(COL20A1):c.2981G>A (p.Arg994Gln)	COL20A1 (R994Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463168	NM_020882.4(COL20A1):c.2990G>C (p.Gly997Ala)	COL20A1 (G997A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349780	NM_020882.4(COL20A1):c.2997G>T (p.Met999Ile)	COL20A1 (M999I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306686	NM_020882.4(COL20A1):c.2998G>A (p.Gly1000Ser)	COL20A1 (G1000S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619527	NM_020882.4(COL20A1):c.3056C>T (p.Pro1019Leu)	COL20A1 (P1019L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222780	NM_020882.4(COL20A1):c.3059G>A (p.Arg1020Gln)	COL20A1 (R1020Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227152	NM_020882.4(COL20A1):c.3068C>T (p.Ser1023Leu)	COL20A1 (S1023L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514507	NM_020882.4(COL20A1):c.3073G>A (p.Ala1025Thr)	COL20A1 (A1025T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2492186	NM_020882.4(COL20A1):c.3108T>G (p.Ser1036Arg)	COL20A1 (S1036R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475784	NM_020882.4(COL20A1):c.3127G>T (p.Asp1043Tyr)	COL20A1 (D1043Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469342	NM_020882.4(COL20A1):c.3131G>A (p.Arg1044Gln)	COL20A1 (R1044Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593396	NM_020882.4(COL20A1):c.3145C>G (p.Pro1049Ala)	COL20A1 (P1049A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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