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Items: 1 to 100 of 815

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
ADAM19, ADAMTS2
+1166 more
Copy number gain
See cases
GPathogenic
LOC129994976, SLC26A2
Single nucleotide variant
Diastrophic dysplasia
+4 more
GUncertain significance
LOC129994976, SLC26A2
Single nucleotide variant
Atelosteogenesis type II
+4 more
GUncertain significance
LOC129994976, SLC26A2
Single nucleotide variant
(5 prime UTR variant)
Sulfate transporter-related osteochondrodysplasia
+4 more
GUncertain significance
LOC129994976, SLC26A2
Single nucleotide variant
(5 prime UTR variant)
Sulfate transporter-related osteochondrodysplasia
+4 more
GUncertain significance
LOC129994976, SLC26A2
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LOC129994976, SLC26A2
Single nucleotide variant
(5 prime UTR variant)
Sulfate transporter-related osteochondrodysplasia
+4 more
GUncertain significance
LOC129994976, SLC26A2
Single nucleotide variant
(5 prime UTR variant)
Sulfate transporter-related osteochondrodysplasia
+4 more
GUncertain significance
LOC129994976, SLC26A2
Single nucleotide variant
(5 prime UTR variant)
Sulfate transporter-related osteochondrodysplasia
+4 more
GUncertain significance
SLC26A2
Single nucleotide variant
(5 prime UTR variant)
Sulfate transporter-related osteochondrodysplasia
+4 more
GConflicting classifications of pathogenicity
SLC26A2
Single nucleotide variant
(5 prime UTR variant)
Multiple epiphyseal dysplasia type 4
+4 more
GUncertain significance
SLC26A2
Single nucleotide variant
(5 prime UTR variant)
Sulfate transporter-related osteochondrodysplasia
+4 more
GUncertain significance
SLC26A2
Single nucleotide variant
(5 prime UTR variant)
Multiple epiphyseal dysplasia type 4
+4 more
GUncertain significance
SLC26A2
Single nucleotide variant
(splice donor variant)
Achondrogenesis, type IB
GLikely pathogenic
SLC26A2
Single nucleotide variant
(splice donor variant)
SLC26A2-related disorder
+7 more
GPathogenic
SLC26A2
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC26A2
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC26A2
(M1I)
Single nucleotide variant
(missense variant +1 more)
Multiple epiphyseal dysplasia type 4
GLikely pathogenic
SLC26A2
(S5fs)
Deletion
(frameshift variant)
Multiple epiphyseal dysplasia type 4
+3 more
GPathogenic/Likely pathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+4 more
GConflicting classifications of pathogenicity
SLC26A2
(H9D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(V11I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC26A2
(S16*)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IB
GLikely pathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(D21fs)
Duplication
(frameshift variant)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
(G19*)
Single nucleotide variant
(nonsense)
Sulfate transporter-related osteochondrodysplasia
+4 more
GPathogenic/Likely pathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(D21fs)
Deletion
(frameshift variant)
Multiple epiphyseal dysplasia type 4
GLikely pathogenic
SLC26A2
(E30fs)
Duplication
(frameshift variant)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Diastrophic dysplasia
+3 more
GLikely benign
SLC26A2
(P24fs)
Deletion
(frameshift variant)
Multiple epiphyseal dysplasia type 4
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(S25C)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Diastrophic dysplasia
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(I27M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC26A2
(H28R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(Q32L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(E34fs)
Deletion
(frameshift variant)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
(S35*)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(T37fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
SLC26A2
(D38fs)
Deletion
(frameshift variant)
Achondrogenesis, type IB
GLikely pathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Diastrophic dysplasia
+4 more
GLikely benign
SLC26A2
(F39L)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(K40*)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(N45fs)
Deletion
(frameshift variant)
Achondrogenesis, type IB
GLikely pathogenic
SLC26A2
(N45S)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 4
+3 more
GUncertain significance
SLC26A2
(D46fs)
Insertion
(frameshift variant)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
(Q47fs)
Duplication
(frameshift variant)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
(Q47*)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IB
GLikely pathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
(R49fs)
Deletion
(frameshift variant)
Achondrogenesis, type IB
+1 more
GPathogenic/Likely pathogenic
SLC26A2
(P50L)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Multiple epiphyseal dysplasia type 4
+3 more
GLikely benign
SLC26A2
(I56fs)
Insertion
(frameshift variant)
Achondrogenesis, type IB
GLikely pathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(R58C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SLC26A2
(R58H)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+4 more
GConflicting classifications of pathogenicity
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(S62*)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IB
+3 more
GLikely pathogenic
SLC26A2
(D63G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC26A2
(D63fs)
Deletion
(frameshift variant)
Atelosteogenesis type II
+3 more
GLikely pathogenic
SLC26A2
(N65D)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+5 more
GConflicting classifications of pathogenicity
SLC26A2
(F66L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SLC26A2
(K67Q)
Single nucleotide variant
(missense variant)
Atelosteogenesis type II
+3 more
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(F69L)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
(F69fs)
Deletion
(frameshift variant)
Atelosteogenesis type II
+3 more
GLikely pathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(K72*)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
(K73fs)
Deletion
(frameshift variant)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(K76del)
Microsatellite
(inframe_deletion)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(N77H)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
SLC26A2
(P82fs)
Duplication
(frameshift variant)
Diastrophic dysplasia
+3 more
GPathogenic/Likely pathogenic
SLC26A2
(Q79*)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IB
+3 more
GPathogenic/Likely pathogenic
SLC26A2
(S81fs)
Deletion
(frameshift variant)
Achondrogenesis, type IB
+3 more
GPathogenic
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