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Links from MedGen

Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAVIN1
(Q87*)
Single nucleotide variant
(nonsense)
Congenital generalized lipodystrophy type 4
GPathogenic
CAVIN1
(V306A)
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
(T302M)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
(T248S)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
(V86M)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
(A21V)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
(E10Q)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
(E184*)
Single nucleotide variant
(nonsense)
Congenital generalized lipodystrophy type 4
GLikely pathogenic
CAVIN1
Single nucleotide variant
(synonymous variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
(R227W)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
(R287G)
Single nucleotide variant
(missense 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)
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)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(5 prime UTR variant)
Congenital generalized lipodystrophy type 4
GLikely benign
CAVIN1
Single nucleotide variant
(synonymous 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)
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
(D66G)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(synonymous variant)
Congenital generalized lipodystrophy type 4
+1 more
GConflicting classifications of pathogenicity
CAVIN1
Single nucleotide variant
(synonymous variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
(L172V)
Single nucleotide variant
(missense 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
GBenign
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
(P22L)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CAVIN1
Single nucleotide variant
(synonymous variant)
Congenital generalized lipodystrophy type 4
+3 more
GConflicting classifications of pathogenicity
CAVIN1
Single nucleotide variant
(5 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(5 prime UTR variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
(M154I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CAVIN1
(T279R)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
GUncertain significance
CAVIN1
Single nucleotide variant
(synonymous 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
+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
GLikely benign
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
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
GLikely benign
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
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
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)
Congenital generalized lipodystrophy type 4
GLikely benign
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
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)
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
GLikely benign
CAVIN1
(Y308C)
Single nucleotide variant
(missense variant)
CAVIN1-related condition
+4 more
GConflicting classifications of pathogenicity
CAVIN1
Single nucleotide variant
(3 prime UTR variant)
CAVIN1-related condition
+2 more
GConflicting classifications of pathogenicity
CAVIN1
(V119D)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 4
+2 more
GConflicting classifications of pathogenicity
CAVIN1
(S56R)
Single nucleotide variant
(missense variant)
CAVIN1-related condition
+2 more
GConflicting classifications of pathogenicity
CAVIN1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
CAVIN1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
CAVIN1
Single nucleotide variant
(splice donor variant)
Congenital generalized lipodystrophy type 4
GPathogenic
CAVIN1
(K173fs)
Deletion
(frameshift variant)
Congenital generalized lipodystrophy type 4
GPathogenic
CAVIN1
(K161fs)
Duplication
(frameshift variant)
Congenital generalized lipodystrophy type 4
GPathogenic
CAVIN1
(K45fs)
Deletion
(frameshift variant)
Congenital generalized lipodystrophy type 4
GPathogenic
CAVIN1
(K122fs)
Duplication
(frameshift variant)
Congenital generalized lipodystrophy type 4
GPathogenic
CAVIN1
(V54fs)
Deletion
(frameshift variant)
Congenital generalized lipodystrophy type 4
GPathogenic
CAVIN1
(E176fs)
Deletion
(frameshift variant)
Congenital generalized lipodystrophy type 4
GPathogenic
CAVIN1
(K233fs)
Duplication
(frameshift variant)
Congenital generalized lipodystrophy type 4
GPathogenic
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