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Links from MedGen

Items: 1 to 100 of 2672

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL12A1
(Q818P +1 more)
Single nucleotide variant
(missense variant +1 more)
Bethlem myopathy 2
GUncertain significance
COL12A1
(T1576K +3 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 2
GUncertain significance
COL12A1
(E1338K +2 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 2
GUncertain significance
COL12A1
(T1679fs +3 more)
Deletion
(frameshift variant)
Bethlem myopathy 2
GLikely pathogenic
COL12A1
Single nucleotide variant
(splice donor variant)
Bethlem myopathy 2
GUncertain significance
COL12A1
Single nucleotide variant
(synonymous variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
(E1561K +2 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1, LOC126859712
(A1281T +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(Y1871H +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(Y97C)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(synonymous variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(G759A +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(G1648S +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(D2403E +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(S1342G +2 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(Q1781R +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(A461T)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(N1795S +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
(N700K)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
(H2198R +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(P2961Q +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(T1659fs +2 more)
Duplication
(frameshift variant)
Ullrich congenital muscular dystrophy 2
+1 more
GPathogenic
COL12A1
(P784L)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
LOC126859712, COL12A1
(S1255G +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(Y888H +1 more)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(T510fs +2 more)
Deletion
(frameshift variant)
Ullrich congenital muscular dystrophy 2
+1 more
GPathogenic
COL12A1
(G1893R +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(synonymous variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1, LOC129996730
Microsatellite
(splice donor variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely pathogenic
COL12A1
(T2635R +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(G2593D +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
(E1887D +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(synonymous variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
(V316M)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(R1599G +2 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
(P1330T +2 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(synonymous variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(V518A +2 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(A103V +2 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(F1458S +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1, LOC126859712
Duplication
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(G2740R +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(V659G)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(P712S)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
Single nucleotide variant
(synonymous variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(Q875R +1 more)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(T509fs)
Deletion
(frameshift variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(L895V)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(Y1787C +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
(A2664S +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(Y646N)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
(G1787V +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(intron variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(D1443N +2 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(E593D)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(V1349A +2 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
(D819E)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(A1860V +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
Single nucleotide variant
(synonymous variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
(F497L)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Deletion
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
(G1333E +2 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(I210T)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(P2711T +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(E1549Q +2 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(E464G)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(S798L)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(I1891T +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(R749*)
Single nucleotide variant
(nonsense +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(synonymous variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
Single nucleotide variant
(synonymous variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
(V1106A +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(synonymous variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
(K630N)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Duplication
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GBenign
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
Single nucleotide variant
(splice donor variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely pathogenic
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
(Q2907fs +3 more)
Deletion
(frameshift variant)
Ullrich congenital muscular dystrophy 2
+1 more
GPathogenic
COL12A1
(I507V)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
(E1604K +2 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL12A1
Single nucleotide variant
(synonymous variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
Single nucleotide variant
(synonymous variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
Single nucleotide variant
(splice donor variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely pathogenic
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely benign
COL12A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
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