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Items: 1 to 100 of 755

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARTN, ATP6V0B
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
ARTN, ATP6V0B
+279 more
Copy number loss
See cases
GPathogenic
ARTN, ATP6V0B
+253 more
Copy number loss
See cases
GPathogenic
LOC129930347, LOC129930348
+91 more
Copy number loss
Epilepsy syndrome
GPathogenic
MPL
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
MPL
Single nucleotide variant
(5 prime UTR variant)
Congenital amegakaryocytic thrombocytopenia
GUncertain significance
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
(W4R)
Single nucleotide variant
(missense variant)
Essential thrombocythemia
+1 more
GUncertain significance
MPL
(W4*)
Single nucleotide variant
(nonsense)
Essential thrombocythemia
+1 more
GPathogenic
MPL
(W4*)
Single nucleotide variant
(nonsense)
Congenital amegakaryocytic thrombocytopenia
GUncertain significance
MPL
(M8V)
Single nucleotide variant
(missense variant)
Essential thrombocythemia
+1 more
GUncertain significance
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
(A16fs)
Insertion
(frameshift variant)
Congenital amegakaryocytic thrombocytopenia
GLikely pathogenic
MPL
(P17S)
Single nucleotide variant
(missense variant)
Congenital amegakaryocytic thrombocytopenia
GUncertain significance
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
(N19fs)
Deletion
(frameshift variant)
Congenital amegakaryocytic thrombocytopenia
GLikely pathogenic
MPL
(N19K)
Single nucleotide variant
(missense variant)
Essential thrombocythemia
+2 more
GConflicting classifications of pathogenicity
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(splice donor variant)
Essential thrombocythemia
+1 more
GLikely pathogenic
MPL
Single nucleotide variant
(splice donor variant)
Congenital amegakaryocytic thrombocytopenia
+1 more
GLikely pathogenic
MPL
Single nucleotide variant
(splice donor variant)
MPL-related condition
+7 more
GPathogenic/Likely pathogenic
MPL
Single nucleotide variant
(intron variant)
Congenital amegakaryocytic thrombocytopenia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Congenital amegakaryocytic thrombocytopenia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Congenital amegakaryocytic thrombocytopenia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
(L30*)
Single nucleotide variant
(nonsense)
Essential thrombocythemia
+1 more
GPathogenic
MPL
(L30S)
Single nucleotide variant
(missense variant)
Essential thrombocythemia
+1 more
GUncertain significance
MPL
(L31P)
Single nucleotide variant
(missense variant)
Thrombocythemia 1
+1 more
GUncertain significance
MPL
(A32fs)
Deletion
(frameshift variant)
Congenital amegakaryocytic thrombocytopenia
+1 more
GPathogenic
MPL
(A32T)
Single nucleotide variant
(missense variant)
Essential thrombocythemia
+1 more
GUncertain significance
MPL
(A32V)
Single nucleotide variant
(missense variant)
MPL-related condition
+2 more
GUncertain significance
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
(S33*)
Single nucleotide variant
(nonsense)
Congenital amegakaryocytic thrombocytopenia
GLikely pathogenic
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
(K39N)
Single nucleotide variant
(missense variant)
Essential thrombocythemia
+4 more
GBenign/Likely benign
MPL
Single nucleotide variant
(synonymous variant)
Congenital amegakaryocytic thrombocytopenia
+2 more
GLikely benign
MPL
(R43*)
Single nucleotide variant
(nonsense)
MPL-Related Disorders
+3 more
GPathogenic
MPL
(T44I)
Single nucleotide variant
(missense variant)
Congenital amegakaryocytic thrombocytopenia
+1 more
GUncertain significance
MPL
(E46Q)
Single nucleotide variant
(missense variant)
Essential thrombocythemia
+1 more
GUncertain significance
MPL
(E46K)
Single nucleotide variant
(missense variant)
Essential thrombocythemia
+1 more
GUncertain significance
MPL
(T49A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
(C50fs)
Insertion
(frameshift variant)
Congenital amegakaryocytic thrombocytopenia
GLikely pathogenic
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
(W52*)
Single nucleotide variant
(nonsense)
Congenital amegakaryocytic thrombocytopenia
GLikely pathogenic
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
(A58V)
Single nucleotide variant
(missense variant)
Congenital amegakaryocytic thrombocytopenia
+3 more
GConflicting classifications of pathogenicity
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
(T62I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
MPL
(Y63*)
Single nucleotide variant
(nonsense)
Congenital amegakaryocytic thrombocytopenia
+1 more
GPathogenic
MPL
(Y63*)
Single nucleotide variant
(nonsense)
Essential thrombocythemia
+2 more
GPathogenic/Likely pathogenic
MPL
(Q64*)
Single nucleotide variant
(nonsense)
Congenital amegakaryocytic thrombocytopenia
+1 more
GPathogenic
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(synonymous variant)
Congenital amegakaryocytic thrombocytopenia
+2 more
GConflicting classifications of pathogenicity
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
(Y69H)
Single nucleotide variant
(missense variant)
Congenital amegakaryocytic thrombocytopenia
GPathogenic
MPL
(Y69C)
Single nucleotide variant
(missense variant)
Essential thrombocythemia
+1 more
GUncertain significance
MPL
(P70fs)
Deletion
(frameshift variant)
Essential thrombocythemia
+1 more
GPathogenic
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
(P70L)
Single nucleotide variant
(missense variant)
Congenital amegakaryocytic thrombocytopenia
+2 more
GConflicting classifications of pathogenicity
MPL
Single nucleotide variant
(synonymous variant)
Congenital amegakaryocytic thrombocytopenia
+4 more
GBenign/Likely benign
MPL
(R71Q)
Single nucleotide variant
(missense variant)
Congenital amegakaryocytic thrombocytopenia
+3 more
GUncertain significance
MPL
Single nucleotide variant
(splice donor variant)
Congenital amegakaryocytic thrombocytopenia
+2 more
GConflicting classifications of pathogenicity
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Congenital amegakaryocytic thrombocytopenia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Congenital amegakaryocytic thrombocytopenia
+1 more
GLikely benign
MPL
Single nucleotide variant
(intron variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(splice acceptor variant)
Essential thrombocythemia
+1 more
GLikely pathogenic
MPL
(E72*)
Single nucleotide variant
(nonsense)
Congenital amegakaryocytic thrombocytopenia
+1 more
GPathogenic/Likely pathogenic
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
(R75H)
Single nucleotide variant
(missense variant)
Essential thrombocythemia
+1 more
GUncertain significance
MPL
(C77fs)
Deletion
(frameshift variant)
Essential thrombocythemia
+1 more
GPathogenic
MPL
Single nucleotide variant
(synonymous variant)
Congenital amegakaryocytic thrombocytopenia
+1 more
GLikely benign
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Single nucleotide variant
(synonymous variant)
Essential thrombocythemia
+1 more
GLikely benign
MPL
Deletion
(frameshift variant)
Congenital amegakaryocytic thrombocytopenia
+4 more
GPathogenic
MPL
(L79fs)
Deletion
(frameshift variant)
Congenital amegakaryocytic thrombocytopenia
+1 more
GPathogenic
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