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Links from MedGen

Items: 1 to 100 of 190

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL7
(E207del +1 more)
Microsatellite
(inframe_deletion)
3M syndrome 1
GUncertain significance
CUL7
Single nucleotide variant
(splice acceptor variant)
3M syndrome 1
GLikely pathogenic
CUL7
(G56V)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(P613fs +1 more)
Deletion
(frameshift variant)
3M syndrome 1
GLikely pathogenic
CUL7
Deletion
(splice donor variant)
3M syndrome 1
GLikely pathogenic
CUL7
(Q1550* +3 more)
Single nucleotide variant
(nonsense)
3M syndrome 1
GPathogenic
CUL7
(W1282R +2 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(R1122fs +2 more)
Deletion
(frameshift variant)
3M syndrome 1
GLikely pathogenic
CUL7
Single nucleotide variant
(intron variant)
3M syndrome 1
GUncertain significance
CUL7
(Q1676fs +3 more)
Deletion
(frameshift variant)
3M syndrome 1
GUncertain significance
CUL7
Single nucleotide variant
(splice donor variant)
3M syndrome 1
GLikely pathogenic
CUL7
(N719fs +1 more)
Insertion
(frameshift variant)
3M syndrome 1
GPathogenic
CUL7
(N921fs +1 more)
Microsatellite
(frameshift variant)
3M syndrome 1
GLikely pathogenic
CUL7
(Q1083fs +1 more)
Deletion
(frameshift variant)
3M syndrome 1
GLikely pathogenic
CUL7
(Q1432* +2 more)
Single nucleotide variant
(nonsense)
3M syndrome 1
GPathogenic
CUL7
Single nucleotide variant
(splice donor variant)
3M syndrome 1
GLikely pathogenic
CUL7
(P1300R +2 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(E1021K +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GLikely pathogenic
CUL7
(L1099fs +1 more)
Deletion
(frameshift variant)
3M syndrome 1
GLikely pathogenic
CUL7
(L551F +1 more)
Single nucleotide variant
3M syndrome 1
GUncertain significance
CUL7
(V776M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CUL7
(R1298C +2 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(C1615* +3 more)
Single nucleotide variant
(nonsense)
3M syndrome 1
GUncertain significance
CUL7
Single nucleotide variant
(splice acceptor variant)
3M syndrome 1
GPathogenic
CUL7
(E1357D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CUL7
(R210W)
Single nucleotide variant
(missense variant +1 more)
3M syndrome 1
GUncertain significance
CUL7
(R1713G +3 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(I1534F +2 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(L826R +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(C1589fs +3 more)
Microsatellite
(frameshift variant)
3M syndrome 1
GPathogenic
CUL7
(R734C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CUL7
(L1587P +5 more)
Single nucleotide variant
(missense variant +1 more)
3M syndrome 1
GPathogenic
CUL7
(R722* +5 more)
Single nucleotide variant
(nonsense)
3M syndrome 1
GPathogenic
CUL7
(L1587P +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CUL7
(Y1021D +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GLikely pathogenic
CUL7
(Q334K +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(T140fs)
Microsatellite
(frameshift variant)
3M syndrome 1
GPathogenic
CUL7
Single nucleotide variant
(synonymous variant)
3M syndrome 1
GUncertain significance
CUL7
(R47L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CUL7
(K71N)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
3M syndrome 1
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
3M syndrome 1
GUncertain significance
CUL7
(A585T +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+1 more
GUncertain significance
CUL7
(R972C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CUL7
(R940H +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+1 more
GUncertain significance
CUL7
(R1027H +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+1 more
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
3M syndrome 1
+1 more
GConflicting classifications of pathogenicity
CUL7
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CUL7
(V1524I +3 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+1 more
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
3M syndrome 1
GUncertain significance
CUL7
(S1535L +3 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(S1607N +3 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+1 more
GUncertain significance
CUL7
(G90R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CUL7
(E608G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CUL7
(R623C +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+1 more
GUncertain significance
CUL7
(I1094V +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(R1095C +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(R1127H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CUL7
Single nucleotide variant
(intron variant)
3M syndrome 1
GUncertain significance
CUL7
(R288Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CUL7
(R321T +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+1 more
GUncertain significance
CUL7
(R787H +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+1 more
GUncertain significance
CUL7
(R1163Q +2 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(A1201V +2 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+1 more
GUncertain significance
CUL7
(E1658K +3 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(R1702Q +3 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+1 more
GUncertain significance
CUL7, LOC129996487
Single nucleotide variant
(5 prime UTR variant)
3M syndrome 1
GUncertain significance
CUL7, LOC129996487
Single nucleotide variant
(5 prime UTR variant)
3M syndrome 1
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
3M syndrome 1
GUncertain significance
CUL7
(Y389H +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(V473M +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(C518Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
3M syndrome 1
GUncertain significance
CUL7
(A871V +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+1 more
GBenign
CUL7
Single nucleotide variant
(synonymous variant)
3M syndrome 1
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
3M syndrome 1
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
3M syndrome 1
+1 more
GConflicting classifications of pathogenicity
CUL7
(E1357K +2 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(W996* +1 more)
Single nucleotide variant
(nonsense)
3M syndrome 1
GPathogenic
CUL7
(R218fs +1 more)
Deletion
(frameshift variant)
3M syndrome 1
GPathogenic
CUL7
(R414* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CUL7
(V1251fs +2 more)
Duplication
(frameshift variant)
3M syndrome 1
GLikely pathogenic
CUL7
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CUL7
Single nucleotide variant
(synonymous variant)
3M syndrome 1
+1 more
GConflicting classifications of pathogenicity
CUL7
(T1420A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CUL7
(R693Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
CUL7
(P861S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CUL7
Deletion
3M syndrome 1
GUncertain significance
CUL7
(H812Y +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(Q1469R +2 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(P1030fs +1 more)
Deletion
(frameshift variant)
3M syndrome 1
GLikely pathogenic
CUL7
(E1372fs +2 more)
Deletion
(frameshift variant)
3M syndrome 1
GLikely pathogenic
OBSL1
(E376*)
Duplication
(nonsense)
3M syndrome 1
+1 more
GPathogenic/Likely pathogenic
OBSL1
(R396H)
Single nucleotide variant
(missense variant)
3M syndrome 1
GLikely pathogenic
OBSL1
Deletion
(splice donor variant)
3M syndrome 1
GLikely pathogenic
CUL7
(M69fs)
Duplication
(frameshift variant)
3M syndrome 1
GLikely pathogenic
CUL7
(W494* +1 more)
Single nucleotide variant
(nonsense)
3M syndrome 1
GLikely pathogenic
CUL7
(Q1229* +2 more)
Single nucleotide variant
(nonsense)
3M syndrome 1
GLikely pathogenic
CUL7
(L170W)
Single nucleotide variant
(missense variant)
3M syndrome 1
+2 more
GUncertain significance
CUL7
(E1376del +2 more)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
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