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Items: 1 to 100 of 1140

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
EMC1-AS1, FAM43B
+221 more
Copy number loss
See cases
GPathogenic
ALPL, C1QA
+60 more
Copy number loss
See cases
GUncertain significance
ALPL, CELA3A
+31 more
Copy number gain
See cases
GUncertain significance
ALPL
Single nucleotide variant
(5 prime UTR variant +1 more)
Adult hypophosphatasia
+2 more
GUncertain significance
ALPL
Single nucleotide variant
(5 prime UTR variant +1 more)
Adult hypophosphatasia
+2 more
GUncertain significance
ALPL
Single nucleotide variant
(intron variant)
Childhood hypophosphatasia
+3 more
GLikely benign
ALPL
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypophosphatasia
GUncertain significance
ALPL
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypophosphatasia
GUncertain significance
ALPL
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
ALPL
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
ALPL
(M1V)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
ALPL
(M1I)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
ALPL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALPL
(V7fs)
Deletion
(frameshift variant +1 more)
Hypophosphatasia
+1 more
GPathogenic
ALPL
(L8fs)
Indel
(frameshift variant +1 more)
not provided
GPathogenic
ALPL
(L8V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ALPL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALPL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALPL
(A9S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ALPL
(A9V)
Single nucleotide variant
(intron variant +1 more)
Childhood hypophosphatasia
+5 more
GUncertain significance
ALPL
(I10T)
Single nucleotide variant
(missense variant +1 more)
Hypophosphatasia
GLikely pathogenic
ALPL
(T12I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ALPL
(L14F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ALPL
(L14P)
Single nucleotide variant
(missense variant +1 more)
Hypophosphatasia
GLikely pathogenic
ALPL
(N16fs)
Deletion
(intron variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ALPL
(T15S)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ALPL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALPL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALPL
(E21K)
Single nucleotide variant
(missense variant +1 more)
Infantile hypophosphatasia
GUncertain significance
ALPL
Single nucleotide variant
(splice donor variant +1 more)
Infantile hypophosphatasia
GLikely pathogenic
ALPL
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Microsatellite
(intron variant)
not provided
GBenign
ALPL
Microsatellite
(intron variant)
not provided
GLikely benign
ALPL
Microsatellite
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GBenign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
Hypophosphatasia
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Microsatellite
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Microsatellite
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPL
Microsatellite
(splice acceptor variant)
Hypophosphatasia
GLikely pathogenic
ALPL
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
ALPL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALPL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALPL
(W29*)
Single nucleotide variant
(nonsense +1 more)
Infantile hypophosphatasia
GLikely pathogenic
ALPL
(R30G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ALPL
(R30*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Adult hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
(D31N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ALPL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALPL
(Q32*)
Single nucleotide variant
(nonsense +1 more)
Osteoporosis
+3 more
GPathogenic/Likely pathogenic
ALPL
(A33G)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
ALPL
(A33V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
ALPL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALPL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALPL
(T36P)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ALPL
(T36I)
Single nucleotide variant
(missense variant +1 more)
Hypophosphatasia
GUncertain significance
ALPL
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ALPL
(L37P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
ALPL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALPL
(K38fs)
Deletion
(frameshift variant +1 more)
Infantile hypophosphatasia
GLikely pathogenic
ALPL
(M1V +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ALPL
(M1T)
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
ALPL
(A40T +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
ALPL
(A40V +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypophosphatasia
+2 more
GPathogenic/Likely pathogenic
ALPL
(P2L)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ALPL
(L43F)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ALPL
(F5fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ALPL
(Q44*)
Single nucleotide variant
(nonsense +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
(S7N)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ALPL
(N47I +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypophosphatasia
GLikely pathogenic
ALPL
(T48I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ALPL
(N49D)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
ALPL
(N49I +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypophosphatasia
GLikely pathogenic
ALPL
(T11M)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
ALPL
(V50M)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ALPL
(W12*)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ALPL
(A51V)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely pathogenic
ALPL
(I55del +2 more)
Microsatellite
(inframe_deletion +1 more)
Infantile hypophosphatasia
+2 more
GUncertain significance
ALPL
(S16L)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ALPL
(I55V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ALPL
(M1V +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ALPL
(M56T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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