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 312

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAPDH, GAU1
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
ACRBP, ADIPOR2
+348 more
Copy number gain
See cases
GPathogenic
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+853 more
Copy number gain
See cases
GPathogenic
LOC130007190, LOC130007191
+698 more
Copy number gain
See cases
GPathogenic
CD9, LOC112163621
+19 more
Copy number gain
See cases
GUncertain significance
LOC130007233, SCNN1A
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial Periodic Fever
+3 more
GConflicting classifications of pathogenicity
LOC130007233, SCNN1A
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial Periodic Fever
+5 more
GConflicting classifications of pathogenicity
SCNN1A, TNFRSF1A
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial Periodic Fever
+3 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
not provided
GBenign
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A, TNFRSF1A
Microsatellite
(3 prime UTR variant)
Familial Periodic Fever
+3 more
GBenign/Likely benign
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GBenign/Likely benign
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive pseudohypoaldosteronism type 1
GLikely benign
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive pseudohypoaldosteronism type 1
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GBenign/Likely benign
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GBenign/Likely benign
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive pseudohypoaldosteronism type 1
+2 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive pseudohypoaldosteronism type 1
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GLikely benign
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
SCNN1A-related disorder
GLikely benign
SCNN1A
(P728A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCNN1A
(P728fs +2 more)
Duplication
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCNN1A
Single nucleotide variant
(synonymous variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCNN1A
(T663A +2 more)
Single nucleotide variant
(missense variant)
Liddle syndrome 3
+4 more
GBenign
SCNN1A
(S656P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCNN1A
(R709H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GConflicting classifications of pathogenicity
SCNN1A
(Y703C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCNN1A
(A643S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCNN1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCNN1A
(M645I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCNN1A
(H679R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCNN1A
(H620D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCNN1A
(C618F +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
SCNN1A
(A610T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCNN1A
(E604K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCNN1A
(A625V +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GConflicting classifications of pathogenicity
SCNN1A
(G601R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive pseudohypoaldosteronism type 1
+1 more
GConflicting classifications of pathogenicity
SCNN1A
(R591Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCNN1A
(R591* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive pseudohypoaldosteronism type 1
+1 more
GConflicting classifications of pathogenicity
SCNN1A
(R589Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive pseudohypoaldosteronism type 1
+2 more
GConflicting classifications of pathogenicity
SCNN1A
(F588V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCNN1A
(R586Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCNN1A
(F581L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCNN1A
(V601A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCNN1A
(V573I +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SCNN1A
(V625A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SCNN1A
(S562L +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SCNN1A
Single nucleotide variant
(intron variant)
not provided
GBenign
SCNN1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SCNN1A
Single nucleotide variant
(intron variant)
not provided
GBenign
SCNN1A
Single nucleotide variant
(intron variant)
not provided
GBenign
SCNN1A
Single nucleotide variant
(intron variant)
not provided
GBenign
SCNN1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SCNN1A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
Bronchiectasis with or without elevated sweat chloride 2
GUncertain significance
SCNN1A
(F528del +2 more)
Microsatellite
(inframe_deletion)
Neurodevelopmental delay
GPathogenic
SCNN1A
(F587L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCNN1A
(I549V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCNN1A
(K546R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCNN1A
(G520A +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(synonymous variant)
Bronchiectasis with or without elevated sweat chloride 2
+3 more
GLikely benign
SCNN1A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SCNN1A
Single nucleotide variant
(intron variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SCNN1A
Single nucleotide variant
(intron variant)
not provided
GBenign
SCNN1A
Single nucleotide variant
(intron variant)
Autosomal recessive pseudohypoaldosteronism type 1
+3 more
GBenign
SCNN1A
(V514I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SCNN1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCNN1A
(R508Q +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
GUncertain significance
SCNN1A
(R508* +2 more)
Single nucleotide variant
(nonsense)
Liddle syndrome 3
+2 more
GPathogenic/Likely pathogenic
SCNN1A
(S530L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
Format
Items per page
Sort by
Choose Destination