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Items: 1 to 100 of 267

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO19, PIGW
(W53*)
Single nucleotide variant
(nonsense)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(I88V)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
PIGW, MYO19
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(V134I)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(S2Y)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(V147M)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
DHRS11, GGNBP2
+11 more
Duplication
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(I129V)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(G215R)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(I393T)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(I220M)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(L203S)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(C103W)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GBenign
MYO19, PIGW
(A476T)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(N259S)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
+1 more
GUncertain significance
MYO19, PIGW
(P429L)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(G391D)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(V19M)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
+1 more
GUncertain significance
MYO19, PIGW
(R303C)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(S471G)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
+1 more
GUncertain significance
MYO19, PIGW
(H327Y)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(R188T)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(R36fs)
Duplication
(frameshift variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
PIGW, MYO19
(L183V)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(P108L)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(Y355fs)
Deletion
(frameshift variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(P436H)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(I243T)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(L413R)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(A146S)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(S416P)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GBenign
MYO19, PIGW
(F152C)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(L474S)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
PIGW, MYO19
Deletion
(nonsense)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GBenign
MYO19, PIGW
(Q5H)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(L39P)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(P417A)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(Q5H)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(P108S)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(L371S)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(W53*)
Single nucleotide variant
(nonsense)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(H228R)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(V501fs)
Deletion
(frameshift variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(S455*)
Single nucleotide variant
(nonsense)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(V339del)
Deletion
(inframe_deletion)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(A301S)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
+1 more
GUncertain significance
MYO19, PIGW
(R99Q)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(I450T)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(T309A)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(L401fs)
Deletion
(frameshift variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(F78L)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(S205A)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
+1 more
GUncertain significance
MYO19, PIGW
(A138V)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
+1 more
GConflicting classifications of pathogenicity
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
Single nucleotide variant
(synonymous variant)
Hyperphosphatasia with intellectual disability syndrome 5
GLikely benign
MYO19, PIGW
(Y98fs)
Deletion
(frameshift variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(M167I)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
MYO19, PIGW
(P208L)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance
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