U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 752

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HCG26, HCG27
+2581 more
Copy number gain
See cases
GPathogenic
AARS2, ABCC10
+435 more
Copy number loss
See cases
GPathogenic
LOC123620117, LOC123620118
+324 more
Copy number loss
See cases
GPathogenic
LOC132089385, LOC132089386
+221 more
Copy number loss
See cases
GPathogenic
CUL7
Microsatellite
not provided
GBenign
CUL7
Single nucleotide variant
(3 prime UTR variant)
3M syndrome 1
GUncertain significance
CUL7
Single nucleotide variant
(3 prime UTR variant)
3M syndrome 1
GUncertain significance
CUL7
(R1697L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
(R1702Q +3 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+1 more
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
3M syndrome 1
+2 more
GBenign
CUL7
(F1694V +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CUL7
(T1691I +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CUL7
(R1713G +3 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(R1681W +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CUL7
(Q1676fs +3 more)
Deletion
(frameshift variant)
3M syndrome 1
GUncertain significance
CUL7
(Q1681K +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CUL7
(Q1676* +3 more)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
CUL7
(L1703I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
(L1671F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
(E1658K +3 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(V1656A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
(T1651P +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CUL7
(Y1645C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
(Y1646H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
3M syndrome 1
+1 more
GBenign/Likely benign
CUL7
(R1640Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CUL7
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
CUL7
(D1637* +3 more)
Duplication
(nonsense)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
CUL7
(R1636H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CUL7
(T1633M +3 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+2 more
GBenign
CUL7
(G1629S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
(L1628P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
(L1633R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
(L1626V +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CUL7
(C1623Y +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
(C1615* +3 more)
Single nucleotide variant
(nonsense)
3M syndrome 1
GUncertain significance
CUL7
(S1607N +3 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+1 more
GUncertain significance
CUL7
(V1606I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
(R1608fs +3 more)
Insertion
(frameshift variant)
not provided
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CUL7
(E1594fs +3 more)
Duplication
(frameshift variant)
not provided
GPathogenic
CUL7
Single nucleotide variant
(intron variant)
CUL7-related disorder
GLikely benign
CUL7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUL7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUL7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUL7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUL7
Duplication
(intron variant)
not provided
GLikely benign
CUL7
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
CUL7
(C1589fs +3 more)
Microsatellite
(frameshift variant)
3M syndrome 1
GPathogenic
CUL7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUL7
(L1587P +5 more)
Single nucleotide variant
(missense variant +1 more)
3M syndrome 1
GPathogenic
CUL7
(L1587P +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CUL7
(L1588I +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
CUL7
(Q1586* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CUL7
(H1578R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
CUL7-related disorder
+1 more
GBenign/Likely benign
CUL7
(A1576T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUL7
(R1572Q +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CUL7
(R1573* +3 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+1 more
GPathogenic
CUL7
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
CUL7
(N1597Y +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
(R1564W +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
3M syndrome 1
GUncertain significance
CUL7
(E1561Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUL7
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CUL7
(E1552R +3 more)
Indel
(missense variant)
not provided
GUncertain significance
CUL7
(Q1550* +3 more)
Single nucleotide variant
(nonsense)
3M syndrome 1
GPathogenic
CUL7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUL7
(R1542Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CUL7
(I1540V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
CUL7-related disorder
GLikely benign
CUL7
(S1535L +3 more)
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)
not provided
GLikely benign
CUL7
(R1527* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CUL7
(R1528fs +3 more)
Duplication
(frameshift variant)
Yakut short stature syndrome
GPathogenic
CUL7
(V1524I +3 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+1 more
GUncertain significance
CUL7
Duplication
(intron variant)
not provided
GLikely benign
CUL7
(P1520S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
(K1518R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUL7
(G1510V +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CUL7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUL7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUL7
(I1534F +2 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(A1501V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
(A1495T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
CUL7
(L1493fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
CUL7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUL7
(A1489V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUL7
(L1488P +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
CUL7
(V1483fs +2 more)
Microsatellite
(frameshift variant)
3M syndrome 1
+1 more
GPathogenic
CUL7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUL7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CUL7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
Format
Items per page
Sort by
Choose Destination