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Items: 1 to 100 of 568

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
ABCD4, ACYP1
+1421 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1202 more
Copy number gain
See cases
GPathogenic
LOC130056672, LOC130056673
+1071 more
Copy number gain
See cases
GPathogenic
ASB2, ATXN3
+201 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+880 more
Copy number gain
See cases
GPathogenic
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+1 more
GUncertain significance
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+1 more
GUncertain significance
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+1 more
GConflicting classifications of pathogenicity
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+1 more
GBenign/Likely benign
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+2 more
GBenign
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+2 more
GBenign/Likely benign
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+1 more
GUncertain significance
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+1 more
GUncertain significance
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+1 more
GBenign/Likely benign
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+1 more
GUncertain significance
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+1 more
GUncertain significance
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+1 more
GBenign
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+1 more
GBenign
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+1 more
GUncertain significance
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+1 more
GUncertain significance
FBLN5
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
+1 more
GUncertain significance
FBLN5
(F448L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBLN5
(Q445H +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
FBLN5
(Q486P +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
FBLN5
(Q445L +3 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
FBLN5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBLN5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBLN5
(S444L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(V387M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(I441M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBLN5
(R481Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(R440W +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
FBLN5
(R438Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(R382* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
FBLN5
(I381T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(V436E +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FBLN5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBLN5
(G433S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(I446T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(I429V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(V469G +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBLN5
(E462A +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBLN5
(D419G +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(L459V +3 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
FBLN5
(Q434H +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(I360V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
FBLN5
(R414Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Macular degeneration, age-related, 3
+2 more
GConflicting classifications of pathogenicity
FBLN5
(R358W +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBLN5
(P430S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBLN5
(G412E +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(K355R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(K411* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
FBLN5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBLN5
(I410T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(I410V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
FBLN5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBLN5
(P353L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
FBLN5
(R352H +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(R352C +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(W408S +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBLN5
(A443T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBLN5
(S401fs +5 more)
Deletion
(frameshift variant)
Cutis laxa, autosomal recessive, type 1A
+2 more
GPathogenic
FBLN5
(S442G +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FBLN5
(A402V +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBLN5
(R401L +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBLN5
(R401Q +1 more)
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa
+2 more
GConflicting classifications of pathogenicity
FBLN5
(T341M +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBLN5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FBLN5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FBLN5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FBLN5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FBLN5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FBLN5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FBLN5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FBLN5
Single nucleotide variant
(intron variant)
not provided
GBenign
FBLN5
Single nucleotide variant
(intron variant)
not provided
GBenign
FBLN5
Single nucleotide variant
(intron variant)
not provided
GBenign
FBLN5
Microsatellite
(intron variant)
not provided
GLikely benign
FBLN5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FBLN5
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
FBLN5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FBLN5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FBLN5
Deletion
(intron variant)
not provided
GUncertain significance
FBLN5
(R395W +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBLN5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FBLN5
(F409C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBLN5
(F336L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBLN5
(E391* +3 more)
Single nucleotide variant
(nonsense)
Cutis laxa, autosomal dominant
+1 more
GConflicting classifications of pathogenicity
FBLN5
(N387K +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FBLN5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FBLN5
(N331T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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