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Links from MedGen

Items: 1 to 100 of 238

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALPL
(C412S +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
GPathogenic
ALPL
(L3P +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
GLikely pathogenic
ALPL
(S43F +1 more)
Single nucleotide variant
(missense variant +1 more)
Adult hypophosphatasia
GUncertain significance
ALPL
Duplication
Adult hypophosphatasia
GUncertain significance
ALPL
(T289I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPL
Single nucleotide variant
(splice acceptor variant)
Adult hypophosphatasia
GPathogenic
ALPL
(A322V +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
GLikely pathogenic
ALPL
(Y117* +2 more)
Single nucleotide variant
(nonsense)
Adult hypophosphatasia
GLikely pathogenic
ALPL
(E114fs +2 more)
Microsatellite
(frameshift variant)
Adult hypophosphatasia
GLikely pathogenic
ALPL
(D381fs +2 more)
Deletion
(frameshift variant)
Adult hypophosphatasia
GLikely pathogenic
ALPL
Single nucleotide variant
(splice donor variant)
Adult hypophosphatasia
GPathogenic
ALPL
(G349D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALPL
(Q21* +1 more)
Single nucleotide variant
(nonsense +1 more)
Adult hypophosphatasia
GLikely pathogenic
ALPL
(V128M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ALPL
(A423fs +2 more)
Indel
(frameshift variant)
Adult hypophosphatasia
GLikely pathogenic
ALPL
(R16S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ALPL
(R138P +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
GLikely pathogenic
ALPL
(Y101* +2 more)
Single nucleotide variant
(nonsense)
Adult hypophosphatasia
+1 more
GPathogenic/Likely pathogenic
ALPL
(G120R +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
GLikely pathogenic
ALPL
(G129R +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
GLikely pathogenic
ALPL
(Y159C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
(G343S +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+1 more
GLikely pathogenic
ALPL
Deletion
(inframe_deletion)
Adult hypophosphatasia
GLikely pathogenic
ALPL
(D279E +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
GUncertain significance
ALPL
(I413L +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
GUncertain significance
ALPL
(H116R +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+2 more
GPathogenic
ALPL
(L37P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
ALPL
(Y150* +2 more)
Single nucleotide variant
(nonsense)
Adult hypophosphatasia
+1 more
GPathogenic/Likely pathogenic
ALPL
(A128T +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+2 more
GUncertain significance
ALPL
(R195fs +2 more)
Deletion
(frameshift variant)
Adult hypophosphatasia
+1 more
GPathogenic/Likely pathogenic
ALPL
(S110N +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+2 more
GUncertain significance
ALPL
(H116fs +2 more)
Deletion
(frameshift variant)
Adult hypophosphatasia
+2 more
GLikely pathogenic
ALPL
(D162fs +2 more)
Indel
(frameshift variant)
Adult hypophosphatasia
+2 more
GLikely pathogenic
ALPL
(N145fs +2 more)
Deletion
(frameshift variant)
Adult hypophosphatasia
+2 more
GLikely pathogenic
ALPL
(A132fs +2 more)
Deletion
(frameshift variant)
Adult hypophosphatasia
+2 more
GLikely pathogenic
ALPL
(N226fs +2 more)
Insertion
(frameshift variant)
Adult hypophosphatasia
+2 more
GLikely pathogenic
ALPL
(D112fs +2 more)
Deletion
(frameshift variant)
Adult hypophosphatasia
+2 more
GLikely pathogenic
ALPL
(E274* +2 more)
Single nucleotide variant
(nonsense)
Adult hypophosphatasia
+2 more
GLikely pathogenic
ALPL
(D174fs +2 more)
Deletion
(frameshift variant)
Adult hypophosphatasia
+2 more
GLikely pathogenic
ALPL
(P117fs +2 more)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ALPL
(H190fs +2 more)
Deletion
(frameshift variant)
Adult hypophosphatasia
+2 more
GLikely pathogenic
ALPL
(V397I +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
GUncertain significance
ALPL
(Y359S +2 more)
Single nucleotide variant
(missense variant)
Childhood hypophosphatasia
+2 more
GUncertain significance
ALPL
Single nucleotide variant
(intron variant)
Adult hypophosphatasia
+3 more
GLikely benign
ALPL
(V423A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALPL
(P81S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ALPL
(A77T +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+2 more
GLikely pathogenic
ALPL
(L118M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
ALPL
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GLikely pathogenic
ALPL
(A377V +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ALPL
Single nucleotide variant
(intron variant)
Adult hypophosphatasia
+1 more
GLikely pathogenic
ALPL
(R75C +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+4 more
GConflicting classifications of pathogenicity
ALPL
Deletion
(intron variant)
not provided
+1 more
GLikely pathogenic
ALPL
(G378D +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
ALPL
(H405N +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ALPL
(F272C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
(R195L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ALPL
(G426S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ALPL
(V297M +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ALPL
(I395V +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+4 more
GPathogenic/Likely pathogenic
ALPL
(R107Q +2 more)
Single nucleotide variant
(missense variant)
Childhood hypophosphatasia
+3 more
GPathogenic
ALPL
(E256K +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
(M240T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ALPL
(W76* +2 more)
Single nucleotide variant
(nonsense)
Adult hypophosphatasia
+1 more
GPathogenic/Likely pathogenic
ALPL
(V161fs +2 more)
Deletion
(frameshift variant)
Adult hypophosphatasia
+1 more
GPathogenic
ALPL
(E28* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hypophosphatasia
+4 more
GPathogenic/Likely pathogenic
ALPL
(D106N +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+3 more
GConflicting classifications of pathogenicity
ALPL
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
ALPL
(P215T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
Microsatellite
(inframe_insertion)
not provided
+1 more
GConflicting classifications of pathogenicity
ALPL
(G172A +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ALPL
(E399A +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+4 more
GPathogenic/Likely pathogenic
ALPL
(M142I +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
(T312N +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
ALPL
Single nucleotide variant
(intron variant)
Childhood hypophosphatasia
+3 more
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
ALPL
(L43F)
Single nucleotide variant
(5 prime UTR variant +2 more)
Adult hypophosphatasia
+1 more
GConflicting classifications of pathogenicity
ALPL
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
ALPL
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
ALPL
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
ALPL
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
ALPL
Single nucleotide variant
(intron variant)
Infantile hypophosphatasia
+3 more
GBenign
ALPL
Single nucleotide variant
(intron variant)
Infantile hypophosphatasia
+3 more
GBenign
ALPL
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
ALPL
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ALPL
Single nucleotide variant
(synonymous variant)
Adult hypophosphatasia
+3 more
GLikely benign
ALPL
Single nucleotide variant
(synonymous variant)
Adult hypophosphatasia
+3 more
GLikely benign
ALPL
Single nucleotide variant
(synonymous variant)
Adult hypophosphatasia
+3 more
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
ALPL
Single nucleotide variant
(intron variant)
Adult hypophosphatasia
+3 more
GLikely benign
ALPL
Single nucleotide variant
(synonymous variant)
Adult hypophosphatasia
+3 more
GLikely benign
ALPL
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ALPL
Single nucleotide variant
(synonymous variant)
Adult hypophosphatasia
+3 more
GLikely benign
ALPL
Single nucleotide variant
(synonymous variant)
Adult hypophosphatasia
+3 more
GLikely benign
ALPL
Single nucleotide variant
(synonymous variant)
Adult hypophosphatasia
+3 more
GLikely benign
ALPL
(G143A +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+2 more
GPathogenic
ALPL
(Y101H +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
(G107S +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+2 more
GPathogenic/Likely pathogenic
ALPL
(Y101* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
(T13M +1 more)
Single nucleotide variant
(missense variant +1 more)
Adult hypophosphatasia
+4 more
GPathogenic/Likely pathogenic
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