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Items: 1 to 100 of 429

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059960, LOC130059961
+224 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+962 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+463 more
Copy number loss
See cases
GPathogenic
MIR4521, MIR497
+922 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+144 more
Copy number loss
See cases
GLikely pathogenic
OR1D4, OR1D5
+651 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+102 more
Copy number loss
See cases
GLikely pathogenic
C17orf107, C17orf114
+498 more
Copy number loss
See cases
GPathogenic
LOC130060077, LOC130060078
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
LOC130060025, LOC130060026
+458 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+303 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+197 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+604 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+100 more
Copy number loss
See cases
GPathogenic
CRK, DPH1
+163 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+217 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+243 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+178 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+352 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+180 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+168 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+134 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+119 more
Copy number loss
See cases
GPathogenic
MIR22, MIR22HG
+53 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
ABR, BHLHA9
+51 more
Copy number gain
See cases
GPathogenic
ABR, BHLHA9
+114 more
Copy number loss
See cases
GPathogenic
ABR, BHLHA9
+86 more
Copy number loss
See cases
GLikely pathogenic
ABR, BHLHA9
+114 more
Copy number gain
See cases
GLikely pathogenic
CCDC92B, CLUH
+164 more
Copy number gain
See cases
GPathogenic
ASPA, CCDC92B
+174 more
Copy number gain
See cases
GLikely pathogenic
CCDC92B, CLUH
+122 more
Copy number loss
See cases
GPathogenic
SERPINF1
Single nucleotide variant
Osteogenesis Imperfecta, Recessive
GUncertain significance
SERPINF1
Single nucleotide variant
Osteogenesis imperfecta
+2 more
GBenign/Likely benign
SERPINF1
Single nucleotide variant
(5 prime UTR variant)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
Duplication
(splice donor variant)
Osteogenesis imperfecta type 6
GPathogenic
SERPINF1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta
GUncertain significance
SERPINF1
Single nucleotide variant
(intron variant)
not specified
GBenign
SERPINF1
Single nucleotide variant
(intron variant)
not provided
GBenign
SERPINF1
Deletion
(intron variant)
not provided
GLikely benign
SERPINF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SERPINF1
(Q2*)
Single nucleotide variant
(nonsense +1 more)
Osteogenesis imperfecta type 6
GLikely pathogenic
SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
Osteogenesis imperfecta type 6
+2 more
GConflicting classifications of pathogenicity
SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINF1
(I10N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SERPINF1
(I10T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
Osteogenesis imperfecta type 6
+1 more
GConflicting classifications of pathogenicity
SERPINF1
(G15R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINF1
(N21T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINF1
(S24N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINF1
(E27fs)
Duplication
(frameshift variant +1 more)
Osteogenesis imperfecta type 6
GPathogenic
SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINF1
(P26fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
SERPINF1
(P25T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SERPINF1
(P26R)
Single nucleotide variant
(missense variant +1 more)
SERPINF1-related disorder
GUncertain significance
SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINF1
Microsatellite
(splice donor variant +1 more)
not provided
GUncertain significance
SERPINF1
(E28A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SERPINF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SERPINF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SERPINF1
Single nucleotide variant
(intron variant)
not provided
GBenign
SERPINF1
Single nucleotide variant
(intron variant)
not provided
GBenign
SERPINF1
Duplication
(intron variant)
not provided
GLikely benign
SERPINF1
Single nucleotide variant
(intron variant)
not provided
GBenign
SERPINF1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 6
GBenign
SERPINF1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 6
+1 more
GConflicting classifications of pathogenicity
SERPINF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130059891, SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC130059891, SERPINF1
(D34N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LOC130059891, SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINF1, LOC130059891
(A38V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
LOC130059891, SERPINF1
(V40fs)
Deletion
(frameshift variant +1 more)
Osteogenesis imperfecta type 6
GPathogenic
LOC130059891, SERPINF1
(P45L)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis Imperfecta, Recessive
GUncertain significance
LOC130059891, SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC130059891, SERPINF1
(V51M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
LOC130059891, SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC130059891, SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
Osteogenesis imperfecta
GUncertain significance
LOC130059891, SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC130059891, SERPINF1
(A56G)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 6
+1 more
GBenign/Likely benign
LOC130059891, SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC130059891, LOC130059892
+1 more
(V58fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
LOC130059891, SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC130059891, SERPINF1
(L65M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINF1, LOC130059891
(L65P)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 6
GUncertain significance
LOC130059891, SERPINF1
(V68L)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC130059891, SERPINF1
(R69*)
Single nucleotide variant
(nonsense +1 more)
Abnormality of the skeletal system
GLikely pathogenic
LOC130059891, SERPINF1
(R69Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINF1
(T72M)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 6
+3 more
GBenign
SERPINF1
(P74L)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
(T75M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC130059892, SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC130059892, SERPINF1
(V78M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
LOC130059892, SERPINF1
(L79P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC130059892, SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC130059892, SERPINF1
(S81C)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
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