U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 123

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABR, ABR-AS1
+962 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+463 more
Copy number loss
See cases
GPathogenic
LOC130059883, LOC130059884
+922 more
Copy number gain
See cases
GPathogenic
TRARG1, TRPV1
+651 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+498 more
Copy number loss
See cases
GPathogenic
SAT2, SCARF1
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
LOC121848004, LOC121848005
+457 more
Copy number loss
See cases
GPathogenic
LOC130059937, LOC130059938
+604 more
Copy number gain
See cases
GPathogenic
CAMKK1, CAMTA2
+303 more
Copy number loss
See cases
GPathogenic
AIPL1, ALOX12
+290 more
Copy number loss
See cases
GPathogenic
ALOX15, ANKFY1
+166 more
Copy number loss
See cases
GLikely pathogenic
ALOX15, ANKFY1
+141 more
Copy number gain
See cases
GLikely benign
C17orf107, C17orf114
+68 more
Duplication
7p22.1 microduplication syndrome
GUncertain significance
LOC130060040, LOC130060041
+17 more
Duplication
Congenital myasthenic syndrome 4A
GUncertain significance
CAMTA2, CAMTA2-AS1
+48 more
Copy number loss
See cases
GLikely pathogenic
PFN1
Single nucleotide variant
(3 prime UTR variant)
PFN1-related disorder
GLikely benign
PFN1
Single nucleotide variant
(3 prime UTR variant)
PFN1-related disorder
GLikely benign
PFN1
Single nucleotide variant
(3 prime UTR variant)
PFN1-related disorder
GLikely benign
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
PFN1
(R137C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
PFN1
(R136W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PFN1
(L135R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PFN1
(H134P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
PFN1
(L123F)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
PFN1
(G118V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Amyotrophic lateral sclerosis type 18
GPathogenic
PFN1
(G118S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PFN1
(E117del)
Microsatellite
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PFN1
(E117D)
Single nucleotide variant
(3 prime UTR variant +1 more)
Amyotrophic lateral sclerosis type 18
GLikely benign
PFN1
(E117G)
Indel
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PFN1
(E117G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PFN1
(M114R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Lower limb muscle weakness
GLikely pathogenic
PFN1
(M114T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GPathogenic
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GBenign
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
PFN1
Microsatellite
(3 prime UTR variant +1 more)
not provided
GLikely benign
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
PFN1
Deletion
(3 prime UTR variant +1 more)
not provided
GLikely benign
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
PFN1
Microsatellite
(3 prime UTR variant +1 more)
not provided
GLikely benign
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
PFN1
Deletion
(3 prime UTR variant +1 more)
not provided
GLikely benign
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
PFN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PFN1
(D107fs)
Duplication
(frameshift variant)
Amyotrophic lateral sclerosis type 18
+1 more
GLikely pathogenic
PFN1
(D107*)
Duplication
(nonsense)
not provided
GUncertain significance
PFN1
(V101I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PFN1
Single nucleotide variant
(synonymous variant)
PFN1-related disorder
GLikely benign
PFN1
(G94D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PFN1
(G94C)
Single nucleotide variant
(missense variant)
PFN1-related disorder
+2 more
GUncertain significance
PFN1
Single nucleotide variant
(synonymous variant)
PFN1-related disorder
GLikely benign
PFN1
(T93I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PFN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PFN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PFN1
(I74V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PFN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PFN1
(C71G)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 18
GPathogenic
PFN1
(L66F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PFN1
(N62S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PFN1
(V61M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PFN1
(A46P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PFN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PFN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PFN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PFN1
Single nucleotide variant
(intron variant)
not provided
GBenign
PFN1
Single nucleotide variant
(intron variant)
not provided
GBenign
PFN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PFN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PFN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PFN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PFN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PFN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PFN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PFN1
(A33T)
Single nucleotide variant
(missense variant)
PFN1-related disorder
GUncertain significance
PFN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PFN1
(P29L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PFN1
(Y25L)
Indel
(missense variant)
not provided
GUncertain significance
PFN1
(V23G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PFN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PFN1
(G15R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PFN1
(A13V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PFN1
(A13T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
PFN1
(M12T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFN1
(L11F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PFN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130060054, PFN1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LOC130060054, PFN1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LOC130060054, PFN1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LOC130060054, PFN1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LOC130060054, PFN1
Duplication
not provided
GBenign
LOC130060054, PFN1
Deletion
not provided
GBenign
Format
Items per page
Sort by
Choose Destination