"Ambry Genetics"[submitter] AND "COL12A1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 151

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 566830	NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser)	COL12A1 (G3063S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 430380	NM_004370.6(COL12A1):c.9142C>T (p.Gln3048Ter)	COL12A1 (Q3048* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 655423	NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu)	COL12A1 (P3037L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 259356	NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)	COL12A1 (R3028H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 580957	NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala)	COL12A1 (P3026A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 647013	NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys)	COL12A1 (R1774C +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 1971640	NM_004370.6(COL12A1):c.8783A>G (p.Asn2928Ser)	COL12A1 (N1764S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 475905	NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg)	COL12A1 (H2880R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2311893	NM_004370.6(COL12A1):c.8603C>T (p.Thr2868Ile)	COL12A1 (T1704I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521418	NM_004370.6(COL12A1):c.8453G>A (p.Gly2818Glu)	COL12A1 (G2818E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 542511	NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His)	COL12A1 (R2807H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2241736	NM_004370.6(COL12A1):c.8330G>A (p.Gly2777Asp)	COL12A1 (G1613D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 705004	NM_004370.6(COL12A1):c.8185G>A (p.Glu2729Lys)	COL12A1 (E1565K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1003683	NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val)	COL12A1 (D1564V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2080542	NM_004370.6(COL12A1):c.8033G>A (p.Gly2678Glu)	COL12A1 (G2678E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1432303	NM_004370.6(COL12A1):c.8022C>G (p.Ile2674Met)	COL12A1 (I1510M +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 2440266	NM_004370.6(COL12A1):c.7930T>C (p.Phe2644Leu)	COL12A1 (F1480L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2924769	NM_004370.6(COL12A1):c.7817C>T (p.Pro2606Leu)	COL12A1 (P2515L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 964906	NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln)	COL12A1 (K1441Q +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 2010557	NM_004370.6(COL12A1):c.7633G>T (p.Gly2545Trp)	COL12A1 (G1381W +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 2533854	NM_004370.6(COL12A1):c.7072C>T (p.Pro2358Ser)	COL12A1 (P1194S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608559	NM_004370.6(COL12A1):c.6920C>G (p.Pro2307Arg)	COL12A1 (P1143R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1320915	NM_004370.6(COL12A1):c.6860A>C (p.Lys2287Thr)	COL12A1 (K1123T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 862698	NM_004370.6(COL12A1):c.6682C>T (p.Arg2228Trp)	COL12A1 (R1064W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 955379	NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn)	COL12A1 (D2181N +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GUncertain significance
Select item 2464024	NM_004370.6(COL12A1):c.6272A>C (p.Tyr2091Ser)	COL12A1 (Y927S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324068	NM_004370.6(COL12A1):c.6265A>G (p.Thr2089Ala)	COL12A1 (T925A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1487501	NM_004370.6(COL12A1):c.6223G>A (p.Gly2075Ser)	COL12A1 (G2075S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1956167	NM_004370.6(COL12A1):c.6221C>G (p.Pro2074Arg)	COL12A1 (P2074R +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 1318816	NM_004370.6(COL12A1):c.6187G>A (p.Val2063Ile)	COL12A1 (V2063I +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GUncertain significance
Select item 2612356	NM_004370.6(COL12A1):c.6140A>T (p.His2047Leu)	COL12A1 (H1956L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197003	NM_004370.6(COL12A1):c.6125C>T (p.Ser2042Leu)	COL12A1 (S2042L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 986252	NM_004370.6(COL12A1):c.6067+1G>A	COL12A1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2298877	NM_004370.6(COL12A1):c.6053C>A (p.Ala2018Asp)	COL12A1 (A2018D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362602	NM_004370.6(COL12A1):c.6046A>G (p.Ser2016Gly)	COL12A1 (S2016G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 475882	NM_004370.6(COL12A1):c.6026C>T (p.Ser2009Leu)	COL12A1 (S2009L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 2552077	NM_004370.6(COL12A1):c.6009C>A (p.Asn2003Lys)	COL12A1 (N839K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 960356	NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys)	COL12A1 (R823C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 580676	NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg)	COL12A1 (P1958R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2551830	NM_004370.6(COL12A1):c.5813G>T (p.Arg1938Ile)	COL12A1 (R774I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 647187	NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr)	COL12A1 (A1879T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 834379	NM_004370.6(COL12A1):c.5569A>G (p.Thr1857Ala)	COL12A1 (T1857A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1053823	NM_004370.6(COL12A1):c.5510G>A (p.Gly1837Glu)	COL12A1 (G1837E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1462839	NM_004370.6(COL12A1):c.5483C>T (p.Pro1828Leu)	COL12A1 (P664L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 2293436	NM_004370.6(COL12A1):c.5443C>A (p.Pro1815Thr)	COL12A1 (P651T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 475874	NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met)	COL12A1 (T1798M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 522655	NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser)	COL12A1 (N1763S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 653341	NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly)	COL12A1 (D1736G +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 2298819	NM_004370.6(COL12A1):c.5173A>G (p.Thr1725Ala)	COL12A1 (T561A +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 2528622	NM_004370.6(COL12A1):c.5036C>T (p.Ala1679Val)	COL12A1 (A1679V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 662453	NM_004370.6(COL12A1):c.4888T>C (p.Tyr1630His)	COL12A1 (Y466H +1 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2 +2 more	GUncertain significance
Select item 1015194	NM_004370.6(COL12A1):c.4828G>A (p.Val1610Ile)	COL12A1 (V1610I +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GUncertain significance
Select item 648979	NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala)	COL12A1 (P1603A +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 2161058	NM_004370.6(COL12A1):c.4705C>T (p.Pro1569Ser)	COL12A1 (P1569S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1449814	NM_004370.6(COL12A1):c.4682A>T (p.Glu1561Val)	COL12A1 (E1561V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2163939	NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln)	COL12A1 (R1560Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 838940	NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met)	COL12A1 (T375M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 475869	NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser)	COL12A1 (N1538S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 449260	NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys)	COL12A1 (R1522C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1466295	NM_004370.6(COL12A1):c.4531A>G (p.Lys1511Glu)	COL12A1 (K1511E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1359075	NM_004370.6(COL12A1):c.4402G>A (p.Gly1468Arg)	COL12A1 (G304R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2071232	NM_004370.6(COL12A1):c.4334A>G (p.Lys1445Arg)	COL12A1 (K281R +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 2486727	NM_004370.6(COL12A1):c.4322T>G (p.Leu1441Arg)	COL12A1 (L1441R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1419782	NM_004370.6(COL12A1):c.4301G>T (p.Arg1434Leu)	COL12A1 (R1434L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 935023	NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His)	COL12A1 (R263H +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
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 945425	NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His)	COL12A1 (R235H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 659320	NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys)	COL12A1 (R122C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2528462	NM_004370.6(COL12A1):c.3840G>C (p.Met1280Ile)	COL12A1 (M116I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 573037	NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)	COL12A1 (S1261N +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 1194241	NM_004370.6(COL12A1):c.3774C>G (p.Asp1258Glu)	COL12A1 (D1258E +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GUncertain significance
Select item 970668	NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg)	COL12A1 (H1256R +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 1053437	NM_004370.6(COL12A1):c.3718C>G (p.Leu1240Val)	COL12A1 (L1240V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 578055	NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys)	COL12A1 (R1224C +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
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 571448	NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu)	COL12A1 (A1213E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2539419	NM_004370.6(COL12A1):c.3581C>T (p.Thr1194Ile)	COL12A1 (T30I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234944	NM_004370.6(COL12A1):c.3580A>C (p.Thr1194Pro)	COL12A1 (T30P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 452138	NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys)	COL12A1 (R1128K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1447822	NM_004370.6(COL12A1):c.3346G>T (p.Gly1116Cys)	COL12A1 (G1116C)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 945430	NM_004370.6(COL12A1):c.3331C>G (p.Pro1111Ala)	COL12A1 (P1111A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 475857	NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val)	COL12A1 (I1068V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1344910	NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln)	COL12A1 (R1054Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2321983	NM_004370.6(COL12A1):c.3142A>G (p.Thr1048Ala)	COL12A1 (T1048A)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +3 more	GUncertain significance
Select item 582140	NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)	COL12A1 (D990Y)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 1025514	NM_004370.6(COL12A1):c.2881A>T (p.Met961Leu)	COL12A1 (M961L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	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 2482412	NM_004370.6(COL12A1):c.2782G>A (p.Ala928Thr)	COL12A1 (A928T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1058225	NM_004370.6(COL12A1):c.2746A>G (p.Ile916Val)	COL12A1 (I916V)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 475851	NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu)	COL12A1 (G899E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 957293	NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr)	COL12A1 (A885T)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 1397483	NM_004370.6(COL12A1):c.2633A>G (p.Gln878Arg)	COL12A1 (Q878R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 962622	NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met)	COL12A1 (T868M)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 565445	NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu)	COL12A1 (G863E)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1365982	NM_004370.6(COL12A1):c.2581G>A (p.Val861Met)	COL12A1 (V861M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 581163	NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu)	COL12A1 (Q857E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 949745	NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu)	COL12A1 (V851E)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +3 more	GUncertain significance
Select item 1397384	NM_004370.6(COL12A1):c.2488A>G (p.Met830Val)	COL12A1 (M830V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 851634	NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala)	COL12A1 (P825A)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2