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Items: 1 to 100 of 226

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMK
(Y215*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GPathogenic
POMK
(W283fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GPathogenic
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
(Y185H)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
(V242fs)
Duplication
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GPathogenic
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GPathogenic
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
(F268fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+2 more
GConflicting classifications of pathogenicity
HGSNAT, POMK
Duplication
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(E75K)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(R15L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
POMK
(S158N)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(G155A)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(Q83*)
Single nucleotide variant
(nonsense)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GPathogenic
POMK
(T32fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GPathogenic
POMK
(H152N)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
Single nucleotide variant
(intron variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+2 more
GLikely benign
POMK
(K66R)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(K104R)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(V87L)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(A324S)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
(H193D)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
(R247G)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
Single nucleotide variant
(synonymous variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GLikely benign
POMK
(V134D)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
(C141S)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
(R200W)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+2 more
GUncertain significance
POMK
(Y140C)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(H246R)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
(R46Q)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(T174M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
(D184G)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
(C74W)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
Single nucleotide variant
(synonymous variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GLikely benign
POMK
(L212V)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
(K168E)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(R94*)
Single nucleotide variant
(nonsense)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GPathogenic
POMK
(D270H)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
(K104T)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
Single nucleotide variant
(synonymous variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GLikely benign
POMK
(C313Y)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+2 more
GUncertain significance
POMK
(P18L)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
Single nucleotide variant
(synonymous variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GLikely benign
POMK
Single nucleotide variant
(synonymous variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GLikely benign
POMK
(A13T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POMK
Single nucleotide variant
(synonymous variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GLikely benign
POMK
(P52S)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
(T146S)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
(H305R)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(P70S)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(D252fs)
Duplication
(frameshift variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GPathogenic
POMK
Single nucleotide variant
(synonymous variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GLikely benign
POMK
(L129F)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(S290T)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(D287N)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
Single nucleotide variant
(synonymous variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GLikely benign
POMK
Single nucleotide variant
(synonymous variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GLikely benign
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
Single nucleotide variant
(intron variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GLikely benign
POMK
Single nucleotide variant
(synonymous variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GLikely benign
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
Single nucleotide variant
(synonymous variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GLikely benign
POMK
Single nucleotide variant
(synonymous variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+2 more
GLikely benign
POMK
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
(Y169H)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
(R61S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
POMK
Deletion
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GLikely benign
POMK
(E16K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
POMK
(V186F)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
(V135D)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(M273L)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
(E348D)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(Q214L)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(H152fs)
Duplication
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GPathogenic
POMK
(T323I)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
HGSNAT, POMK
Duplication
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+3 more
GUncertain significance
POMK
(V17L)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+2 more
GUncertain significance
POMK
Duplication
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
POMK
(L72P)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
(R61G)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
(K116R)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
(T174A)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
(C37S)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
POMK
(E161K)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy due to POMK deficiency
+1 more
GUncertain significance
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