"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "COL12A1"[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1318519	NM_004370.6(COL12A1):c.9038C>T (p.Pro3013Leu)	COL12A1 (P1849L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 835422	NM_004370.6(COL12A1):c.8554C>T (p.Pro2852Ser)	COL12A1 (P1688S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 579591	NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His)	COL12A1 (R2779H +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 423385	NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys)	COL12A1 (N2623K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 425388	NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met)	COL12A1 (T2618M +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
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 1440320	NM_004370.6(COL12A1):c.7307G>A (p.Arg2436Gln)	COL12A1, LOC126859712 (R1272Q +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 1408545	NM_004370.6(COL12A1):c.7250G>T (p.Trp2417Leu)	COL12A1, LOC126859712 (W1253L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 475893	NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met)	COL12A1, LOC126859712 (T2408M +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 1423402	NM_004370.6(COL12A1):c.7154C>T (p.Ala2385Val)	COL12A1, LOC126859712 (A1221V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 583015	NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu)	COL12A1 (V2350L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 2682936	NM_004370.6(COL12A1):c.6308A>G (p.Asp2103Gly)	COL12A1 (D2012G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204297	NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys)	COL12A1 (R1965C +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 1399889	NM_004370.6(COL12A1):c.5644G>A (p.Ala1882Thr)	COL12A1 (A1882T +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 963874	NM_004370.6(COL12A1):c.5603A>G (p.Glu1868Gly)	COL12A1 (E704G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 837588	NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met)	COL12A1 (T672M +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 475877	NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile)	COL12A1 (V1823I +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 642585	NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala)	COL12A1 (T1820A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 475874	NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met)	COL12A1 (T1798M +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GUncertain significance
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 567112	NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala)	COL12A1 (T1770A +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 648979	NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala)	COL12A1 (P1603A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 843474	NM_004370.6(COL12A1):c.4762C>A (p.Pro1588Thr)	COL12A1 (P1588T +1 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 846142	NM_004370.6(COL12A1):c.4675G>A (p.Val1559Ile)	COL12A1 (V1559I +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 2933426	NM_004370.6(COL12A1):c.4537A>G (p.Thr1513Ala)	COL12A1 (T349A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 855101	NM_004370.6(COL12A1):c.4301G>A (p.Arg1434Gln)	COL12A1 (R270Q +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 1427287	NM_004370.6(COL12A1):c.4275G>T (p.Gly1425=)	COL12A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 3381012	NM_004370.6(COL12A1):c.4084G>T (p.Glu1362Ter)	COL12A1 (E1271* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1686643	NM_004370.6(COL12A1):c.4000+1G>A	COL12A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1939930	NM_004370.6(COL12A1):c.3892C>T (p.Pro1298Ser)	COL12A1 (P134S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 450114	NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His)	COL12A1 (R1286H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 575462	NM_004370.6(COL12A1):c.3835+4A>G	COL12A1	Single nucleotide variant (intron variant)	Bethlem myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 573037	NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)	COL12A1 (S1261N +1 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 2682937	NM_004370.6(COL12A1):c.3730A>G (p.Ser1244Gly)	COL12A1 (S1153G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 956450	NM_004370.6(COL12A1):c.3070G>A (p.Val1024Ile)	COL12A1 (V1024I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 939805	NM_004370.6(COL12A1):c.3044C>A (p.Thr1015Lys)	COL12A1 (T1015K)	Single nucleotide variant (missense variant +1 more)	COL12A1-related disorder +3 more	GUncertain significance
Select item 2682938	NM_004370.6(COL12A1):c.2972C>A (p.Ala991Asp)	COL12A1 (A900D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2413722	NM_004370.6(COL12A1):c.2820A>C (p.Lys940Asn)	COL12A1 (K940N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 475851	NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu)	COL12A1 (G899E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 661884	NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys)	COL12A1 (E720K)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 1438199	NM_004370.6(COL12A1):c.2032G>A (p.Val678Met)	COL12A1 (V678M)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 542492	NM_004370.6(COL12A1):c.2006C>T (p.Ala669Val)	COL12A1 (A669V)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 475849	NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe)	COL12A1 (V633F)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 2928621	NM_004370.6(COL12A1):c.1736C>T (p.Ala579Val)	COL12A1 (A579V)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 2682939	NM_004370.6(COL12A1):c.1673G>C (p.Arg558Thr)	COL12A1 (R558T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1057682	NM_004370.6(COL12A1):c.1667C>T (p.Ala556Val)	COL12A1 (A556V)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 2 +2 more	GUncertain significance
Select item 840011	NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln)	COL12A1 (E420Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 573286	NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr)	COL12A1 (A396T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 566613	NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe)	COL12A1 (I308F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 1020289	NM_004370.6(COL12A1):c.569C>A (p.Thr190Asn)	COL12A1 (T190N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2682940	NM_004370.6(COL12A1):c.566G>C (p.Arg189Thr)	COL12A1 (R189T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1025161	NM_004370.6(COL12A1):c.350C>T (p.Ser117Leu)	COL12A1 (S117L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 640831	NM_004370.6(COL12A1):c.274G>T (p.Val92Leu)	COL12A1 (V92L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 577239	NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu)	COL12A1 (K34E)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance

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Items: 59