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Items: 1 to 100 of 195

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRB3, ADGRB3-DT
+310 more
Copy number loss
See cases
GPathogenic
ADGRB3, COL19A1
+35 more
Copy number gain
See cases
GPathogenic
COL19A1
(L18I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(V24M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Duplication
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
(R67H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Microsatellite
(intron variant)
not provided
GBenign
COL19A1
Microsatellite
(intron variant)
not provided
GBenign
COL19A1
(I133V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
COL19A1
(D152N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(R169H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
(H226L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(A234S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
COL19A1
(I237M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
(C250F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(A277G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(E280Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(I288V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(N290S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
(A294T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(G295R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(H308Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(P312L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
(Q345E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(A352G)
Single nucleotide variant
(missense variant)
not provided
GBenign
COL19A1
(N360S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
B3GAT2, COL19A1
+20 more
Copy number gain
See cases
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
(G373D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
(P386T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
(G391V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(P402R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(G406D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
(G412V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(P423T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
(I434L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(T437I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(G439D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
(G474V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(G480A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(E481V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(P482T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(G492E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(V499A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
COL19A1
(I567V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(P573S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(S585I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
(P611T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(G615S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(D619N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL19A1
(P636Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(R646Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(V663I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
(G677A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL19A1
Single nucleotide variant
(intron variant)
not provided
GBenign
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Sort by
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