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 2720

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Stickler syndrome type 1
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Stickler syndrome type 1
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Stickler syndrome type 1
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
COL2A1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Type II Collagenopathies
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Type II Collagenopathies
+2 more
GBenign
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Type II Collagenopathies
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Type II Collagenopathies
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GLikely benign
COL2A1
Single nucleotide variant
(3 prime UTR variant)
Type II Collagenopathies
+4 more
GBenign
COL2A1
Single nucleotide variant
(stop lost)
Stickler syndrome, type I, nonsyndromic ocular
GUncertain significance
COL2A1
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
COL2A1
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
COL2A1
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
COL2A1
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
COL2A1
(F1417del +1 more)
Microsatellite
(inframe_deletion)
not provided
GLikely pathogenic
COL2A1
(L1487M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
(C1485R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL2A1
(P1414fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
COL2A1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
COL2A1
(P1483L +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
(G1482fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
COL2A1
(G1413R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COL2A1
(D1411N +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL2A1
(V1410A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL2A1
(G1409S +1 more)
Single nucleotide variant
(missense variant)
Spondyloperipheral dysplasia
+1 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL2A1
(F1408L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL2A1
(E1405K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL2A1
Single nucleotide variant
(synonymous variant)
Achondrogenesis type II
+16 more
GLikely benign
COL2A1
(G1403fs +1 more)
Deletion
(frameshift variant)
Platyspondylic dysplasia, Torrance type
GPathogenic
COL2A1
(G1472E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
(G1472W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
(G1472R +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COL2A1
(I1401T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
(I1401V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL2A1
(D1400Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
COL2A1
(P1398H +1 more)
Single nucleotide variant
(missense variant)
COL2A1-related condition
GUncertain significance
COL2A1
(A1466L +1 more)
Indel
(missense variant)
not provided
GUncertain significance
COL2A1
(A1397V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
(A1397E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL2A1
(I1394M +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COL2A1
(I1463del +1 more)
Deletion
(inframe_deletion)
Connective tissue disorder
GLikely pathogenic
COL2A1
(I1463T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
(I1394V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL2A1
(L1391F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
(R1390H +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COL2A1
(R1459C +1 more)
Single nucleotide variant
(missense variant)
Type II Collagenopathies
+2 more
GConflicting classifications of pathogenicity
COL2A1
(T1388S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
(Q1455* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
COL2A1
(R1384Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL2A1
(R1384W +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
COL2A1
(Y1383C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COL2A1
(E1382K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL2A1
Single nucleotide variant
(synonymous variant)
Stickler syndrome type 1
+2 more
GConflicting classifications of pathogenicity
COL2A1
(I1381V +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL2A1
(V1380fs +1 more)
Deletion
(frameshift variant)
Achondrogenesis type II
GLikely pathogenic
COL2A1
Single nucleotide variant
(synonymous variant)
Stickler syndrome type 1
+19 more
GBenign/Likely benign
COL2A1
(T1379I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
(T1448S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL2A1
(K1447R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL2A1
(G1377fs +1 more)
Deletion
(frameshift variant)
Stickler syndrome, type I, nonsyndromic ocular
GUncertain significance
COL2A1
(G1374fs +1 more)
Indel
(frameshift variant)
not provided
GLikely pathogenic
COL2A1
(G1374D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
(G1374fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
COL2A1
(G1443S +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+2 more
GConflicting classifications of pathogenicity
COL2A1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL2A1
(T1373N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
(T1373fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
COL2A1
(H1441fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
COL2A1
(K1371N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
(K1371E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL2A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL2A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL2A1
Deletion
(intron variant)
not provided
GLikely benign
COL2A1
Microsatellite
(intron variant)
not provided
GLikely benign
COL2A1
Deletion
(intron variant)
not provided
GLikely benign
COL2A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL2A1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
COL2A1
Deletion
(intron variant)
not provided
GBenign
COL2A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL2A1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
COL2A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL2A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL2A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL2A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL2A1
Single nucleotide variant
(intron variant)
Type II Collagenopathies
+1 more
GUncertain significance
COL2A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL2A1
Duplication
(splice donor variant)
not provided
GUncertain significance
COL2A1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
COL2A1
Single nucleotide variant
(splice donor variant)
Connective tissue disorder
GLikely pathogenic
COL2A1
Deletion
(splice donor variant)
not provided
GPathogenic
Format
Items per page
Sort by
Choose Destination