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Items: 1 to 100 of 738

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZBTB45, ZFP28
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064933, LOC130064934
+1093 more
Copy number gain
See cases
GPathogenic
MED25
Single nucleotide variant
not provided
GBenign
MED25
Single nucleotide variant
not provided
GBenign
MED25
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GBenign
MED25
(M1R)
Single nucleotide variant
(missense variant +1 more)
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
GLikely pathogenic
MED25
(V2L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MED25
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
(E6Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
(G7V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
(P8L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
(P8Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MED25
(R10C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
(R10L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
(F20I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
(V21M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(synonymous variant)
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
+3 more
GBenign/Likely benign
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GBenign
MED25
(E33G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
(L35fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
(R36L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
(R36H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
MED25
(H38Y)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
(H38N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
(Y39C)
Single nucleotide variant
(missense variant)
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
GPathogenic
MED25
(Y39*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
(P42S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
(P42L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MED25
(I44S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+4 more
GConflicting classifications of pathogenicity
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
MED25
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease
GLikely pathogenic
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
(F47fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
(G49R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
(G49C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MED25
(P51S)
Single nucleotide variant
(missense variant)
MED25-related disorder
+2 more
GLikely benign
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+3 more
GBenign
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
GLikely benign
MED25
(F57C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
(F57S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
not provided
GBenign
MED25
Single nucleotide variant
(intron variant)
not provided
GBenign
MED25
Single nucleotide variant
(intron variant)
not provided
GBenign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
(T64fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
GLikely benign
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
(S67T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
MED25
(A77P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
(P78A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+2 more
GBenign
MED25
(E79K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
(Q83E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+2 more
GUncertain significance
MED25
(Q83R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MED25
(Q83H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MED25
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
MED25
(P87A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
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