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Links from MedGen

Items: 1 to 100 of 5583

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL6A1
(E595fs)
Deletion
(frameshift variant)
Bethlem myopathy 1A
GLikely pathogenic
COL6A3
(D1354H +3 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A2
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A1
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A2
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A2
(L772fs)
Deletion
(frameshift variant)
Bethlem myopathy 1A
GPathogenic
COL6A1
(F187V)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A1
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A1
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A2
(G167C)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
+1 more
GUncertain significance
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A2
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A2
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
(I188T)
Single nucleotide variant
(missense variant +1 more)
Bethlem myopathy 1A
GUncertain significance
COL6A1
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A2
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
Single nucleotide variant
(synonymous variant +1 more)
Bethlem myopathy 1A
GLikely benign
COL6A3
(T2942I +4 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
(I2719T +4 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3, LOC126806573
(M2975L +4 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A1
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A1
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
(K1254* +4 more)
Single nucleotide variant
(nonsense)
Bethlem myopathy 1A
GPathogenic
COL6A3
Single nucleotide variant
(synonymous variant +1 more)
Bethlem myopathy 1A
GLikely benign
COL6A2
(Q909P)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
(G1392E +4 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A2
Deletion
(splice acceptor variant)
Bethlem myopathy 1A
GLikely pathogenic
COL6A2
(T142R)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A1
(E519R)
Indel
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
(L1420S +3 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
(S238T +3 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A2
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
(S1291N +3 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A2
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GUncertain significance
COL6A1
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
(K585N +2 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A2
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
(L1487P +4 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
(R597T +3 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
(R1096G +3 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A1
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(splice acceptor variant)
Bethlem myopathy 1A
GLikely pathogenic
COL6A1
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A1
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
(K1532I +4 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A1
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A1
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
(N251D +1 more)
Single nucleotide variant
(missense variant +1 more)
Bethlem myopathy 1A
GUncertain significance
COL6A3
(K99E)
Single nucleotide variant
(missense variant +1 more)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A1
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GBenign
COL6A2
(F892Y)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
(S1216N +3 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A2
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A1
(T703M)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GBenign
COL6A3
(P626L +2 more)
Single nucleotide variant
(missense variant +1 more)
Bethlem myopathy 1A
GUncertain significance
COL6A3
(G2174D +4 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A2
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
(S261G +2 more)
Single nucleotide variant
(missense variant +1 more)
Bethlem myopathy 1A
GUncertain significance
COL6A1
(K803Q)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A1
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A2
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GUncertain significance
COL6A2
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
(Y352C +2 more)
Single nucleotide variant
(missense variant +1 more)
Bethlem myopathy 1A
GLikely benign
COL6A3
(K462Q +3 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
(V1694I +4 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
Duplication
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
(D2256H +4 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A1
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A1
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A1
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Single nucleotide variant
(synonymous variant +1 more)
Bethlem myopathy 1A
GLikely benign
COL6A3
(V123L +1 more)
Single nucleotide variant
(missense variant +1 more)
Bethlem myopathy 1A
GUncertain significance
COL6A2
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
COL6A3
Deletion
(intron variant)
Bethlem myopathy 1A
GBenign
COL6A2
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1A
GLikely benign
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