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Items: 1 to 100 of 2579

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP39A1, DAAM2
+2577 more
Copy number gain
See cases
GPathogenic
COL11A2
Single nucleotide variant
not provided
GBenign
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Stickler Syndrome, Dominant
+3 more
GLikely benign
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Stickler Syndrome, Dominant
+3 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Stickler Syndrome, Dominant
+3 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Stickler Syndrome, Dominant
+3 more
GUncertain significance
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+3 more
GUncertain significance
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Stickler Syndrome, Dominant
+3 more
GUncertain significance
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Otospondylomegaepiphyseal dysplasia, autosomal dominant
+2 more
GUncertain significance
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+3 more
GUncertain significance
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Stickler Syndrome, Dominant
+3 more
GLikely benign
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Stickler Syndrome, Dominant
+3 more
GLikely benign
B3GALT4, COL11A2
+26 more
Duplication
Intellectual disability, autosomal dominant 5
GUncertain significance
COL11A2
Microsatellite
(3 prime UTR variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(3 prime UTR variant)
Stickler Syndrome, Dominant
+6 more
GBenign/Likely benign
COL11A2
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
COL11A2
(M1453T +6 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL11A2
(M1628L +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
COL11A2
(V1050A +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL11A2
(V1625L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
(P1449S +6 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL11A2
(V1620L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
(V1641M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL11A2
(R1724Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL11A2
(R1724W +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
COL11A2
(R1637K +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
COL11A2
(P1722L +2 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+6 more
GBenign/Likely benign
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(synonymous variant)
COL11A2-related condition
+2 more
GBenign/Likely benign
COL11A2
(L1611V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
(L1718M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
(D1717V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(synonymous variant)
COL11A2-related condition
GLikely benign
COL11A2
(P1623S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
(Q1621H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL11A2
(E1620K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
COL11A2
(V1597G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
Single nucleotide variant
(synonymous variant)
COL11A2-related condition
+2 more
GConflicting classifications of pathogenicity
COL11A2
(T1420M +6 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL11A2
(R1615Q +2 more)
Single nucleotide variant
(missense variant)
Otospondylomegaepiphyseal dysplasia, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL11A2
(T1589M +2 more)
Single nucleotide variant
(missense variant)
COL11A2-related condition
+1 more
GConflicting classifications of pathogenicity
COL11A2
(R1695Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
COL11A2
(R1588G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
(R1695W +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
COL11A2
Single nucleotide variant
(intron variant)
Stickler Syndrome, Dominant
+6 more
GBenign/Likely benign
COL11A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(intron variant)
COL11A2-related condition
+4 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
COL11A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL11A2
Deletion
(intron variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(intron variant)
not provided
GBenign
COL11A2
Single nucleotide variant
(intron variant)
not provided
GBenign
COL11A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL11A2
Duplication
(intron variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL11A2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL11A2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL11A2
(T1571fs +2 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
COL11A2
(V1575I +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL11A2
(S1337G +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
(E1570D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
Single nucleotide variant
(synonymous variant)
COL11A2-related condition
+1 more
GBenign/Likely benign
COL11A2
(P1569Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
(P1569L +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL11A2
(S1393N +6 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL11A2
(D1565N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
(E1564K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL11A2
(R1667H +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
COL11A2
(R1560S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL11A2
(R1581C +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL11A2
(R1665K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
(L1664R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL11A2
(G1555S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL11A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL11A2
(R1553H +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
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