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Items: 1 to 100 of 1094

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT17
(S97del)
Microsatellite
(inframe_deletion)
Steatocystoma multiplex
+2 more
GPathogenic/Likely pathogenic
LMNA
(A287fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LMNA
(L363fs +2 more)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
GPathogenic
KRT6C
(N172del)
Microsatellite
(inframe_deletion)
Focal palmoplantar keratoderma
GPathogenic
LMNA
Duplication
(inframe_insertion)
Primary dilated cardiomyopathy
+4 more
GUncertain significance
LMNA, LOC126805877
(V169fs +2 more)
Deletion
(frameshift variant)
not provided
Gnot provided
KRT10-AS1, KRT10
(R156G)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT74
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant wooly hair
GPathogenic
KRT6C
Deletion
(inframe_deletion)
Focal palmoplantar keratoderma
GPathogenic
LMNA, LOC129931597
(E33D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
LMNA, LOC129931597
(E33D)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LMNA
(R331P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
LMNA, LOC129931597
(E33G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA
(A318T +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GConflicting classifications of pathogenicity
LMNA, LOC129931597
(K32del)
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic
LMNA
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(intron variant)
not provided
Gnot provided
LMNA
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA
Single nucleotide variant
(splice donor variant)
not provided
Gnot provided
LMNA
(S303fs +2 more)
Microsatellite
(frameshift variant)
not provided
+3 more
GPathogenic
LMNA
(S303P +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA
(L302P +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA
(D300N +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+2 more
GPathogenic/Likely pathogenic
LMNA
(I299T +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA
(S295P +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LMNA
(Q294P +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA
(H208fs +2 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease
GUncertain significance
LMNA, LOC129931597
(R28W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA
(D191fs +2 more)
Indel
(frameshift variant)
not provided
Gnot provided
LMNA
(L271P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LMNA
Single nucleotide variant
(intron variant)
not provided
Gnot provided
LMNA
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
LMNA
Single nucleotide variant
(intron variant)
not provided
Gnot provided
LMNA
Single nucleotide variant
(intron variant)
not provided
GBenign
LMNA
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA
(S268P +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA
(Y267C +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA
(L263P +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA
Indel
not provided
Gnot provided
LMNA
(Y259D +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA
(Y259H +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LOC129931597, LMNA
(R25P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GLikely pathogenic
LMNA
(R249Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic/Likely pathogenic
LMNA
(L248P +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LMNA, LOC129931597
(R25C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely pathogenic
LMNA, LOC129931597
(R25G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GPathogenic/Likely pathogenic
LMNA
(Q246* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
LMNA
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
LMNA
(G232E +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic/Likely pathogenic
LMNA
(G232R +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GLikely pathogenic
LMNA
(H222P +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA
(K219T +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LMNA
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
LMNA
Single nucleotide variant
(intron variant)
not provided
Gnot provided
LMNA
(N128fs +2 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
LMNA
(K208del +2 more)
Microsatellite
(inframe_deletion)
not provided
+1 more
GPathogenic/Likely pathogenic
LMNA
(F206L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GConflicting classifications of pathogenicity
LMNA
(E203V +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA
Deletion
(inframe_indel)
not provided
Gnot provided
LMNA
(N195K +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA
(D192V +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
GLikely pathogenic
LMNA
(D192G +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
LMNA
(R190Q +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+5 more
GPathogenic/Likely pathogenic
LMNA
Microsatellite
(inframe_insertion)
not provided
Gnot provided
LMNA
(R190W +2 more)
Single nucleotide variant
(missense variant)
LMNA-related disorder
+4 more
GPathogenic
LMNA
(R108P +2 more)
Inversion
(missense variant)
not provided
Gnot provided
LMNA
(R189W +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+15 more
GUncertain significance
LMNA
(E186K +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA
(L183P +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA
Single nucleotide variant
(splice acceptor variant)
not provided
Gnot provided
LOC126805877, LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely pathogenic
LMNA, LOC126805877
(R166P +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GPathogenic/Likely pathogenic
LMNA, LOC126805877
(E159K +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA, LOC126805877
(S143P +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+3 more
GPathogenic/Likely pathogenic
LMNA, LOC126805877
(L140P +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GLikely pathogenic
LMNA, LOC126805877
(E138K +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
LMNA, LOC126805877
(D136H +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA, LOC126805877
(A132P +2 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA, LOC126805877
(G125S +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126805877, LMNA
Single nucleotide variant
(splice acceptor variant +1 more)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA
(E112del)
Microsatellite
(inframe_deletion)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
LMNA
(E111*)
Single nucleotide variant
(nonsense)
not provided
Gnot provided
LMNA, LOC129931597
(R11fs)
Deletion
(frameshift variant)
not provided
Gnot provided
LMNA
(R101P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LMNA, LOC129931597
(T10I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
LMNA, LOC129931597
(T10fs)
Duplication
(frameshift variant)
not provided
Gnot provided
LMNA
(K97E)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA
(L92F)
Single nucleotide variant
(missense variant)
Primary familial dilated cardiomyopathy
+1 more
GLikely pathogenic
LMNA
(R89L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA
(R89C)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA
(E82K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GPathogenic
LMNA
Deletion
(inframe_deletion)
not provided
Gnot provided
LMNA
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
LMNA
Single nucleotide variant
(splice donor variant +1 more)
Hutchinson-Gilford syndrome
+1 more
GPathogenic
LMNA
(T655fs +2 more)
Duplication
(frameshift variant +1 more)
Charcot-Marie-Tooth disease type 2
+4 more
GConflicting classifications of pathogenicity
LMNA
(R624* +2 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease type 2
+13 more
GUncertain significance
LMNA
(R614S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
LMNA
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 2
+2 more
GLikely benign
LMNA
(G605D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
LMNA
(G601D +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
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