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 296

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
OR10G2, OR10G3
+859 more
Copy number gain
See cases
GPathogenic
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+399 more
Copy number gain
See cases
GPathogenic
LOC112214170, LOC112214171
+840 more
Copy number loss
See cases
GPathogenic
LOC124958010, LOC124958011
+529 more
Copy number gain
See cases
GLikely pathogenic
ABHD4, ARHGEF40
+242 more
Copy number gain
See cases
GUncertain significance
MMP14
Single nucleotide variant
not provided
GBenign
MMP14
Duplication
not provided
GBenign
MMP14
Single nucleotide variant
not provided
GBenign
MMP14
Single nucleotide variant
not provided
GBenign
MMP14
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
MMP14
(A4T)
Single nucleotide variant
(missense variant)
not provided
GBenign
MMP14
(P7fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
MMP14
(P8S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
MMP14
(R9S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP14
(R9H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
(T17R)
Single nucleotide variant
(missense variant)
Winchester syndrome
GPathogenic
MMP14
(A21T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(A21V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(L25F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP14
(G26S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(G26V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
(S31C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP14
Deletion
(intron variant)
not provided
GBenign
MMP14
Single nucleotide variant
(intron variant)
not provided
GBenign
MMP14
Single nucleotide variant
(intron variant)
not provided
GBenign
MMP14
Single nucleotide variant
(intron variant)
not provided
GBenign
MMP14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP14
(A37P)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
(P46S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(P46T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
(G48R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(G48R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(D49N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(R51H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP14
(T54A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(T54P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
(S60P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
(S62L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(A64del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
(A64V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MMP14
(T77I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP14
(A82T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP14
Deletion
(intron variant)
not provided
GBenign
MMP14
Single nucleotide variant
(intron variant)
not provided
GBenign
MMP14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP14
(R89G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP14
(R90H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(R92*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
(G100A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
(A105V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
Single nucleotide variant
(missense variant)
Winchester syndrome
GPathogenic
MMP14
(A113T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP14
(H121R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
Duplication
(intron variant)
not provided
GLikely benign
MMP14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP14
Single nucleotide variant
(intron variant)
not provided
GBenign
MMP14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
(R145H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(A147V)
Single nucleotide variant
(missense variant)
Winchester syndrome
GUncertain significance
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
(R149H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(V150M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(R158C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(R158H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(R160H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
(A165D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP14
(R168C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP14
(E169K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(H171R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP14
(F181S)
Single nucleotide variant
(missense variant)
Winchester syndrome
GUncertain significance
MMP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP14
(E183K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination