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Items: 1 to 100 of 357

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP39A1, DAAM2
+2577 more
Copy number gain
See cases
GPathogenic
ITPR3, LOC129996179
Single nucleotide variant
not provided
GBenign
ITPR3, LOC129996179
Single nucleotide variant
not provided
GBenign
ITPR3
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
ITPR3
(H9Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
(D44H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
Single nucleotide variant
(synonymous variant)
ITPR3-related condition
GLikely benign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
(L56V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
(V59M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR3
Single nucleotide variant
(synonymous variant)
ITPR3-related condition
GLikely benign
ITPR3
(Q68K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ITPR3
Microsatellite
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Deletion
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ITPR3
Single nucleotide variant
(synonymous variant)
ITPR3-related condition
+1 more
GBenign/Likely benign
ITPR3
(N108D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
(K145R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
Single nucleotide variant
(synonymous variant)
ITPR3-related condition
GLikely benign
ITPR3
(R149W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ITPR3
(V188G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR3
(A205T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
Single nucleotide variant
(intron variant)
ITPR3-related condition
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
ITPR3-related condition
+1 more
GBenign
ITPR3
(R228G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
(F244L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, demyelinating, type 1J
GUncertain significance
ITPR3
(E256G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
(N280S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Deletion
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
(D326G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
(A337V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ITPR3
(R343C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ITPR3
(L374W)
Single nucleotide variant
(missense variant)
ITPR3-related condition
+1 more
GBenign
ITPR3
(T377P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
Single nucleotide variant
(synonymous variant)
ITPR3-related condition
+1 more
GBenign
ITPR3
(D378E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR3
(S379F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
Single nucleotide variant
(intron variant)
ITPR3-related condition
+1 more
GLikely benign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
(E410G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
Single nucleotide variant
(intron variant)
ITPR3-related condition
+1 more
GBenign
ITPR3
Single nucleotide variant
(synonymous variant)
ITPR3-related condition
GLikely benign
ITPR3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ITPR3
Single nucleotide variant
(synonymous variant)
ITPR3-related condition
GLikely benign
ITPR3
(E461fs)
Insertion
(frameshift variant)
not provided
GUncertain significance
ITPR3
Deletion
(intron variant)
ITPR3-related condition
+1 more
GLikely benign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
ITPR3-related condition
+1 more
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
(G531C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
(R537W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ITPR3
Deletion
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
ITPR3-related condition
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ITPR3
(V615M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, demyelinating, type 1J
GPathogenic
ITPR3
(P628L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(synonymous variant)
ITPR3-related condition
GLikely benign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
(E669D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
(R671W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ITPR3
(Q713L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
(A715V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
(R716Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
Single nucleotide variant
(synonymous variant)
ITPR3-related condition
GBenign
ITPR3
Single nucleotide variant
(intron variant)
not provided
GBenign
ITPR3
Single nucleotide variant
(synonymous variant)
ITPR3-related condition
GLikely benign
ITPR3
(D742E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ITPR3
Single nucleotide variant
(synonymous variant)
ITPR3-related condition
+1 more
GBenign
ITPR3
(M764T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR3
(E767K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
(P790S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPR3
(T795M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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