ClinVar for Gene (Select 1303) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381012	NM_004370.6(COL12A1):c.4084G>T (p.Glu1362Ter)	COL12A1 (E1271* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3381011	NM_004370.6(COL12A1):c.4215G>A (p.Trp1405Ter)	COL12A1 (W1314* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3381010	NM_004370.6(COL12A1):c.5302_5309del (p.Ser1768fs)	COL12A1 (S1677fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3379701	NM_004370.6(COL12A1):c.487A>G (p.Ile163Val)	COL12A1 (I163V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3379700	NM_004370.6(COL12A1):c.797A>G (p.Asn266Ser)	COL12A1 (N266S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3379699	NM_004370.6(COL12A1):c.7362T>G (p.Ser2454Arg)	COL12A1 (S1290R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379698	NM_004370.6(COL12A1):c.8618A>C (p.Lys2873Thr)	COL12A1 (K1709T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377520	NM_004370.6(COL12A1):c.4410A>T (p.Glu1470Asp)	COL12A1, LOC129996730 (E1379D +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2	GUncertain significance
Select item 3377403	NM_004370.6(COL12A1):c.8348G>A (p.Gly2783Asp)	COL12A1 (G1619D +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2	GLikely pathogenic
Select item 3377131	NM_004370.6(COL12A1):c.9103C>T (p.Arg3035Ter)	COL12A1 (R1871* +3 more)	Single nucleotide variant (nonsense)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely pathogenic
Select item 3376057	NM_004370.6(COL12A1):c.8411A>G (p.Glu2804Gly)	COL12A1 (E1640G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376016	NM_004370.6(COL12A1):c.3242G>A (p.Gly1081Glu)	COL12A1 (G1081E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375753	NM_004370.6(COL12A1):c.-35-4G>T	COL12A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3375610	NM_004370.6(COL12A1):c.8645G>C (p.Arg2882Thr)	COL12A1 (R1718T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373714	NM_004370.6(COL12A1):c.170T>C (p.Ile57Thr)	COL12A1 (I57T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373668	NM_004370.6(COL12A1):c.7133T>C (p.Leu2378Pro)	COL12A1, LOC126859712 (L1214P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373079	NM_004370.6(COL12A1):c.8623G>A (p.Gly2875Arg)	COL12A1 (G1711R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372867	NM_004370.6(COL12A1):c.8690A>T (p.Asp2897Val)	COL12A1 (D1733V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372701	NM_004370.6(COL12A1):c.4703G>A (p.Arg1568Lys)	COL12A1 (R1477K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372623	NM_004370.6(COL12A1):c.8415+3A>T	COL12A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3370716	NM_004370.6(COL12A1):c.3265T>A (p.Ser1089Thr)	COL12A1 (S1089T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368722	NM_004370.6(COL12A1):c.1144G>A (p.Val382Met)	COL12A1 (V382M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367927	NM_004370.6(COL12A1):c.-35-3C>T	COL12A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3365279	NM_004370.6(COL12A1):c.2340G>C (p.Glu780Asp)	COL12A1 (E780D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365078	NM_004370.6(COL12A1):c.565A>G (p.Arg189Gly)	COL12A1 (R189G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364916	NM_004370.6(COL12A1):c.4133G>C (p.Ser1378Thr)	COL12A1 (S1287T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364605	NM_004370.6(COL12A1):c.4777G>C (p.Val1593Leu)	COL12A1 (V1502L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364424	NM_004370.6(COL12A1):c.3257G>T (p.Arg1086Leu)	COL12A1 (R1086L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364033	NM_004370.6(COL12A1):c.6779C>G (p.Thr2260Ser)	COL12A1 (T1096S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362140	NM_004370.6(COL12A1):c.8966G>A (p.Arg2989Lys)	COL12A1 (R1825K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361942	NM_004370.6(COL12A1):c.824G>T (p.Gly275Val)	COL12A1 (G275V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361633	NM_004370.6(COL12A1):c.8302G>A (p.Gly2768Ser)	COL12A1 (G1604S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361297	NM_004370.6(COL12A1):c.1769C>A (p.Pro590His)	COL12A1 (P590H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360300	NM_004370.6(COL12A1):c.7559G>C (p.Gly2520Ala)	COL12A1 (G1356A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359925	NM_004370.6(COL12A1):c.5233C>A (p.Pro1745Thr)	COL12A1 (P1654T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359882	NM_004370.6(COL12A1):c.8330G>T (p.Gly2777Val)	COL12A1 (G1613V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349468	NM_004370.6(COL12A1):c.5230+7G>T	COL12A1	Single nucleotide variant (intron variant)	COL12A1-related disorder	GLikely benign
Select item 3347828	NM_004370.6(COL12A1):c.8567C>T (p.Pro2856Leu)	COL12A1 (P1692L +3 more)	Single nucleotide variant (missense variant)	COL12A1-related disorder	GUncertain significance
Select item 3347150	NM_004370.6(COL12A1):c.3811T>C (p.Tyr1271His)	COL12A1 (Y107H +2 more)	Single nucleotide variant (missense variant)	COL12A1-related disorder	GUncertain significance
Select item 3343837	NM_004370.6(COL12A1):c.7195G>A (p.Gly2399Arg)	COL12A1, LOC126859712 (G1235R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343398	NM_004370.6(COL12A1):c.5275C>G (p.Leu1759Val)	COL12A1 (L1668V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342427	NM_004370.6(COL12A1):c.6326G>C (p.Gly2109Ala)	COL12A1 (G2018A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341957	NM_004370.6(COL12A1):c.5798T>A (p.Met1933Lys)	COL12A1 (M1842K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341060	NM_004370.6(COL12A1):c.8462G>A (p.Gly2821Asp)	COL12A1 (G1657D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340889	NM_004370.6(COL12A1):c.8179-12T>G	COL12A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3337929	NM_004370.6(COL12A1):c.7187A>C (p.Tyr2396Ser)	COL12A1, LOC126859712 (Y1232S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337928	NM_004370.6(COL12A1):c.8265+5G>A	COL12A1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 3337927	NM_004370.6(COL12A1):c.8760G>T (p.Met2920Ile)	COL12A1 (M1756I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3268524	NM_004370.6(COL12A1):c.6029A>T (p.Asp2010Val)	COL12A1 (D1919V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268523	NM_004370.6(COL12A1):c.2051C>G (p.Thr684Ser)	COL12A1 (T684S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268522	NM_004370.6(COL12A1):c.5543G>A (p.Arg1848Lys)	COL12A1 (R684K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268521	NM_004370.6(COL12A1):c.4226C>T (p.Ser1409Phe)	COL12A1 (S245F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268520	NM_004370.6(COL12A1):c.1067C>A (p.Pro356Gln)	COL12A1 (P356Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268519	NM_004370.6(COL12A1):c.1900C>T (p.Pro634Ser)	COL12A1 (P634S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268518	NM_004370.6(COL12A1):c.3109A>C (p.Lys1037Gln)	COL12A1 (K1037Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268517	NM_004370.6(COL12A1):c.4175T>C (p.Val1392Ala)	COL12A1 (V1392A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268516	NM_004370.6(COL12A1):c.2797C>A (p.Arg933Ser)	COL12A1 (R842S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268515	NM_004370.6(COL12A1):c.5063C>G (p.Thr1688Ser)	COL12A1 (T1597S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268514	NM_004370.6(COL12A1):c.6799G>A (p.Asp2267Asn)	COL12A1 (D2260N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257383	NM_004370.6(COL12A1):c.3443+4G>A	COL12A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3256738	NM_004370.6(COL12A1):c.8415+1G>A	COL12A1	Single nucleotide variant (splice donor variant)	Bethlem myopathy 2	GLikely pathogenic
Select item 3252484	NM_004370.6(COL12A1):c.727A>G (p.Lys243Glu)	COL12A1 (K243E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3251096	NM_004370.6(COL12A1):c.2698A>G (p.Thr900Ala)	COL12A1 (T900A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3246046	NC_000006.11:g.(?_75901397)_(75912508_?)dup	COL12A1	Duplication	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 3246045	NC_000006.11:g.(?_75827078)_(75912508_?)dup	COL12A1	Duplication	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 3246043	NC_000006.11:g.(?_75827078)_(76640888_?)dup	COL12A1, COX7A2 +5 more	Duplication	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 3246042	NC_000006.11:g.(?_75875203)_(75875515_?)dup	COL12A1	Duplication	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 3234922	NM_004370.6(COL12A1):c.2726A>C (p.Gln909Pro)	COL12A1 (Q818P +1 more)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 2	GUncertain significance
Select item 3233817	NM_004370.6(COL12A1):c.8134C>G (p.Pro2712Ala)	COL12A1 (P1548A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147173	NM_004370.6(COL12A1):c.6890C>G (p.Ala2297Gly)	COL12A1 (A2297G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147171	NM_004370.6(COL12A1):c.4233T>A (p.Ser1411Arg)	COL12A1 (S1411R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147170	NM_004370.6(COL12A1):c.3648A>C (p.Arg1216Ser)	COL12A1 (R1216S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147169	NM_004370.6(COL12A1):c.2791A>G (p.Met931Val)	COL12A1 (M840V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147168	NM_004370.6(COL12A1):c.1904C>T (p.Pro635Leu)	COL12A1 (P635L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147167	NM_004370.6(COL12A1):c.1022T>C (p.Ile341Thr)	COL12A1 (I341T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067356	NM_004370.6(COL12A1):c.6202G>C (p.Asp2068His)	COL12A1 (D1977H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3066370	NM_004370.6(COL12A1):c.8219C>A (p.Thr2740Lys)	COL12A1 (T1576K +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2	GUncertain significance
Select item 3065992	NM_004370.6(COL12A1):c.4285G>A (p.Glu1429Lys)	COL12A1 (E1338K +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2	GUncertain significance
Select item 3065301	NM_004370.6(COL12A1):c.5308_5311del (p.Thr1770fs)	COL12A1 (T1679fs +3 more)	Deletion (frameshift variant)	Bethlem myopathy 2	GLikely pathogenic
Select item 3064388	NM_004370.6(COL12A1):c.8685+1G>A	COL12A1	Single nucleotide variant (splice donor variant)	Bethlem myopathy 2	GUncertain significance
Select item 3041094	NM_004370.6(COL12A1):c.2893C>T (p.Leu965=)	COL12A1	Single nucleotide variant (synonymous variant +1 more)	COL12A1-related disorder	GLikely benign
Select item 3032482	NM_004370.6(COL12A1):c.1288+9A>G	COL12A1	Single nucleotide variant (intron variant)	COL12A1-related disorder	GLikely benign
Select item 3031994	NM_004370.6(COL12A1):c.2657T>C (p.Leu886Ser)	COL12A1 (L886S)	Single nucleotide variant (missense variant +1 more)	COL12A1-related disorder	GUncertain significance
Select item 3031119	NM_004370.6(COL12A1):c.1226G>C (p.Gly409Ala)	COL12A1 (G409A)	Single nucleotide variant (missense variant +1 more)	COL12A1-related disorder	GUncertain significance
Select item 3028929	NM_004370.6(COL12A1):c.633A>T (p.Pro211=)	COL12A1	Single nucleotide variant (synonymous variant +1 more)	COL12A1-related disorder	GLikely benign
Select item 3026309	NM_004370.6(COL12A1):c.3258G>A (p.Arg1086=)	COL12A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025581	NM_004370.6(COL12A1):c.9109C>A (p.Pro3037Thr)	COL12A1 (P1873T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954552	NM_004370.6(COL12A1):c.2232T>C (p.Thr744=)	COL12A1	Single nucleotide variant (synonymous variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2954551	NM_004370.6(COL12A1):c.4681G>A (p.Glu1561Lys)	COL12A1 (E1561K +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954550	NM_004370.6(COL12A1):c.8578-6T>G	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954478	NM_004370.6(COL12A1):c.7333G>A (p.Ala2445Thr)	COL12A1, LOC126859712 (A1281T +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954349	NM_004370.6(COL12A1):c.5632T>C (p.Tyr1878His)	COL12A1 (Y1871H +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954251	NM_004370.6(COL12A1):c.290A>G (p.Tyr97Cys)	COL12A1 (Y97C)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954242	NM_004370.6(COL12A1):c.984T>G (p.Val328=)	COL12A1	Single nucleotide variant (synonymous variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954170	NM_004370.6(COL12A1):c.5768G>C (p.Gly1923Ala)	COL12A1 (G759A +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954055	NM_004370.6(COL12A1):c.8434G>A (p.Gly2812Ser)	COL12A1 (G1648S +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954039	NM_004370.6(COL12A1):c.7482C>G (p.Asp2494Glu)	COL12A1 (D2403E +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2953996	NM_004370.6(COL12A1):c.4297A>G (p.Ser1433Gly)	COL12A1 (S1342G +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2953877	NM_004370.6(COL12A1):c.5342A>G (p.Gln1781Arg)	COL12A1 (Q1781R +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2953837	NM_004370.6(COL12A1):c.1381G>A (p.Ala461Thr)	COL12A1 (A461T)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance

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