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Items: 1 to 100 of 1042

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1072 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1188 more
Copy number gain
See cases
GPathogenic
LOC130002218, LOC130002219
+994 more
Copy number gain
See cases
GPathogenic
LOC130002205, LOC130002206
+417 more
Copy number loss
See cases
GPathogenic
ABCA1, ABITRAM
+253 more
Copy number loss
See cases
GPathogenic
LOC126860732, LOC126860733
+514 more
Copy number loss
See cases
GPathogenic
ABCA1, ABITRAM
+514 more
Copy number loss
See cases
GPathogenic
CT70, CTNNAL1
+509 more
Copy number loss
See cases
GPathogenic
ABCA1, ACTL7A
+109 more
Copy number loss
Weiss-kruszka syndrome
GPathogenic
ABCA1, ABITRAM
+310 more
Copy number loss
See cases
GPathogenic
ABCA1, CT70
+58 more
Copy number gain
See cases
GUncertain significance
ABCA1, CT70
+56 more
Copy number gain
See cases
GUncertain significance
FKTN-AS1, FKTN
+3 more
Deletion
Walker-Warburg congenital muscular dystrophy
GPathogenic
FKTN, FKTN-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
FKTN, FKTN-AS1
Deletion
(5 prime UTR variant +1 more)
not specified
GBenign
FKTN, FKTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
GUncertain significance
FKTN-AS1, FKTN
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+4 more
GUncertain significance
FKTN-AS1, FKTN
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKTN
Single nucleotide variant
(intron variant)
not provided
GBenign
FKTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKTN
Duplication
(intron variant)
not provided
GBenign
FKTN
Deletion
(intron variant)
not provided
GLikely benign
FKTN
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GBenign/Likely benign
FKTN
Single nucleotide variant
(5 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(5 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GBenign
FKTN
Single nucleotide variant
(5 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+3 more
GConflicting classifications of pathogenicity
FKTN
Deletion
(5 prime UTR variant +2 more)
Dilated Cardiomyopathy, Recessive
+2 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1X
GUncertain significance
FKTN
Single nucleotide variant
(intron variant)
not provided
GBenign
FKTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKTN
Single nucleotide variant
(intron variant)
not provided
GBenign
FKTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKTN
Microsatellite
(intron variant)
not provided
GLikely benign
FKTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKTN
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKTN
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+5 more
GBenign/Likely benign
FKTN
Single nucleotide variant
(5 prime UTR variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Duplication
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKTN
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
FKTN
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
FKTN
(M1del)
Deletion
(inframe_deletion +3 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+3 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(synonymous variant +2 more)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKTN
(S2R)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKTN
(R3G)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
+6 more
GUncertain significance
FKTN
(I4F)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
FKTN
(I4L)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKTN
(I4T)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKTN
(I4M)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKTN
Single nucleotide variant
(synonymous variant +2 more)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKTN
(N5H)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKTN
(N5D)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKTN
(N5S)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(synonymous variant +2 more)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKTN
(K6N)
Single nucleotide variant
(missense variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
+2 more
GUncertain significance
FKTN
(N7fs)
Deletion
(frameshift variant +2 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(N7K)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKTN
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FKTN
(V8M)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKTN
(V8L)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
FKTN
(V9L)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKTN
(V9F)
Single nucleotide variant
(missense variant +2 more)
not provided
+7 more
GUncertain significance
FKTN
Single nucleotide variant
(synonymous variant +2 more)
Walker-Warburg congenital muscular dystrophy
+1 more
GLikely benign
FKTN
(L10S)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKTN
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FKTN
(L12V)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKTN
Single nucleotide variant
(synonymous variant +2 more)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKTN
(L13*)
Single nucleotide variant
(nonsense +2 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(T14R)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKTN
(T14M)
Single nucleotide variant
(missense variant +2 more)
Dilated cardiomyopathy 1X
+7 more
GUncertain significance
FKTN
Single nucleotide variant
(synonymous variant +2 more)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKTN
Single nucleotide variant
(synonymous variant +2 more)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKTN
Deletion
(frameshift variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GPathogenic/Likely pathogenic
FKTN
Single nucleotide variant
(synonymous variant +2 more)
not provided
+3 more
GBenign
FKTN
Single nucleotide variant
(synonymous variant +2 more)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKTN
Single nucleotide variant
(synonymous variant +2 more)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKTN
Single nucleotide variant
(synonymous variant +2 more)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKTN
(S17R)
Single nucleotide variant
(non-coding transcript variant +2 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(S17G)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKTN
Single nucleotide variant
(synonymous variant +2 more)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKTN
(L21fs)
Duplication
(frameshift variant +2 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
Single nucleotide variant
(synonymous variant +2 more)
Walker-Warburg congenital muscular dystrophy
+1 more
GLikely benign
FKTN
(F20V)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
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