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 315

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065566, LOC130065567
+2522 more
Copy number gain
See cases
GPathogenic
LOC125387319, LOC125387320
+1024 more
Copy number gain
See cases
GPathogenic
ADNP, ADNP-AS1
+199 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+553 more
Copy number gain
See cases
GLikely pathogenic
CYP24A1
Single nucleotide variant
(genic downstream transcript variant)
Infantile hypercalcemia
GBenign
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Insertion
(3 prime UTR variant)
Infantile hypercalcemia
GBenign
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GBenign
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GBenign
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GBenign
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GBenign
CYP24A1
Microsatellite
(3 prime UTR variant)
Infantile hypercalcemia
GUncertain significance
CYP24A1
Microsatellite
(3 prime UTR variant)
Infantile hypercalcemia
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Infantile hypercalcemia
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GBenign
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GBenign
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GBenign
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(3 prime UTR variant)
Hypercalcemia, infantile, 1
GBenign
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GBenign
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GBenign
CYP24A1
(C512Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CYP24A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP24A1
(A510V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CYP24A1
(A510T +1 more)
Single nucleotide variant
(missense variant)
Hypercalcemia, infantile, 1
+1 more
GUncertain significance
CYP24A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CYP24A1
(I443V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP24A1
(L441I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP24A1
(E506D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP24A1
(E440D +1 more)
Single nucleotide variant
(missense variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
(R439W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP24A1
(R439G +1 more)
Single nucleotide variant
(missense variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
(P437L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CYP24A1
(P437A +1 more)
Single nucleotide variant
(missense variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP24A1
(H431P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP24A1
(D423E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CYP24A1
(A421V +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CYP24A1
(D484N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CYP24A1
Single nucleotide variant
(synonymous variant)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GBenign
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GBenign
CYP24A1
Deletion
(intron variant +1 more)
CYP24A1-related condition
GLikely pathogenic
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP24A1
(C477fs)
Microsatellite
(frameshift variant +1 more)
Hypercalcemia, infantile, 1
GPathogenic
CYP24A1
(R466*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
CYP24A1
(R465H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CYP24A1
(G464R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CYP24A1
(I463V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CYP24A1
(C462fs)
Microsatellite
(frameshift variant +1 more)
not provided
GPathogenic
CYP24A1
(V457I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CYP24A1
(G456R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CYP24A1
(P454L)
Single nucleotide variant
(missense variant +1 more)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(synonymous variant +1 more)
Hypercalcemia, infantile, 1
+1 more
GConflicting classifications of pathogenicity
CYP24A1
(R439C)
Single nucleotide variant
(missense variant +1 more)
Hypercalcemia, infantile, 1
+1 more
GConflicting classifications of pathogenicity
CYP24A1
(P437H)
Single nucleotide variant
(missense variant +1 more)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
(S433I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CYP24A1
(E430K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CYP24A1
(N428D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CYP24A1
(G423V)
Single nucleotide variant
(missense variant +1 more)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
(Q420P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CYP24A1
Single nucleotide variant
(synonymous variant +1 more)
Hypercalcemia, infantile, 1
GUncertain significance
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GBenign
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GBenign
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GBenign
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GBenign
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP24A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP24A1
(G412E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CYP24A1
(L409S)
Single nucleotide variant
(missense variant)
CYP24A1-related condition
+2 more
GConflicting classifications of pathogenicity
CYP24A1
(Y407N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP24A1
(V403I)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CYP24A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP24A1
(R396Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP24A1
(R396W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CYP24A1
(P392fs)
Duplication
(frameshift variant)
not provided
GPathogenic
CYP24A1
Single nucleotide variant
(synonymous variant)
Hypercalcemia, infantile, 1
+1 more
GConflicting classifications of pathogenicity
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GBenign
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GBenign
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GBenign
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GBenign
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP24A1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination