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Items: 1 to 100 of 146

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
LOC130060786, LOC130060787
+633 more
Copy number gain
See cases
GPathogenic
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GLikely benign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GLikely benign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GLikely benign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GLikely benign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GBenign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
+1 more
GLikely benign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GBenign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GLikely benign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
CAVIN1
Duplication
(3 prime UTR variant)
not provided
GLikely benign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
+1 more
GConflicting classifications of pathogenicity
CAVIN1
(D380H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN1
(I375M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN1
(D368N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAVIN1
(R363C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN1
(A358P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN1
Single nucleotide variant
(synonymous variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
(E350A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN1
(D349del)
Microsatellite
(inframe_deletion)
Monogenic diabetes
+1 more
GUncertain significance
CAVIN1
(E334K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN1
(V315I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN1
(V315F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAVIN1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
CAVIN1
(Y308C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CAVIN1
(V306A)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CAVIN1
(T302M)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAVIN1
(T292M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN1
(R287G)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
(P283S)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(synonymous variant)
Congenital generalized lipodystrophy type 4
+2 more
GBenign/Likely benign
CAVIN1
(T279R)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
(K272R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN1
(T248S)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
(K243N)
Single nucleotide variant
(missense variant)
CAVIN1-related disorder
GLikely benign
CAVIN1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CAVIN1
(A235T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN1
(K233fs)
Duplication
(frameshift variant)
Congenital generalized lipodystrophy type 4
GPathogenic
CAVIN1
(R227W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CAVIN1
(S216F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAVIN1
Single nucleotide variant
(synonymous variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Duplication
(inframe_insertion)
See cases
+1 more
GUncertain significance
CAVIN1
(E184K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN1
(E184*)
Single nucleotide variant
(nonsense)
Congenital generalized lipodystrophy type 4
GLikely pathogenic
CAVIN1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CAVIN1
(P179S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN1
(E176fs)
Deletion
(frameshift variant)
Congenital generalized lipodystrophy type 4
GPathogenic
CAVIN1
(K173fs)
Deletion
(frameshift variant)
Congenital generalized lipodystrophy type 4
GPathogenic
CAVIN1
(L172V)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
(S171*)
Single nucleotide variant
(nonsense)
Congenital generalized lipodystrophy type 4
GLikely pathogenic
CAVIN1
(K161fs)
Duplication
(frameshift variant)
Congenital generalized lipodystrophy type 4
GPathogenic
CAVIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAVIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CAVIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CAVIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CAVIN1
Duplication
(intron variant)
not provided
GBenign
CAVIN1
Duplication
(intron variant)
not provided
GLikely benign
CAVIN1
Duplication
(intron variant)
not provided
GLikely benign
CAVIN1
Microsatellite
(intron variant)
not provided
GLikely benign
CAVIN1
Insertion
(intron variant)
not provided
GBenign
CAVIN1
Insertion
(intron variant)
not provided
GBenign
CAVIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
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