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Items: 90

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
ACTR10, AKAP5
+344 more
Copy number loss
See cases
GPathogenic
ACTR10, ARID4A
+202 more
Copy number loss
See cases
GPathogenic
ACTR10, ARID4A
+113 more
Copy number loss
See cases
GPathogenic
LOC132090233, LOC132090234
+264 more
Copy number loss
See cases
GPathogenic
LOC126861961, LOC126861962
+4 more
Copy number loss
See cases
GUncertain significance
PRKCH, TMEM30B
(D344E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(F304L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(K300Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(G298S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(A282S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(A276V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(I269S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(K264E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(T261R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(A258V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(N247S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(P227S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(N213D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(P210L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(G184E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(R180C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(H178Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(S153C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(P149L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(L136R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(L133P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(F117L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(Y112D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(Y112H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(Q105R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(A95T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(E64Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(L49R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(A42S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, TMEM30B
(A7T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, PRKCH-AS1
(K36R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, PRKCH-AS1
(L40V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, PRKCH-AS1
(Q51H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, PRKCH-AS1
(G55A)
Single nucleotide variant
(missense variant)
Ischemic stroke
GUncertain significance
PRKCH, PRKCH-AS1
(K65R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, PRKCH-AS1
(T67A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, PRKCH-AS1
(R110C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH, PRKCH-AS1
(D116G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(R149W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(V210I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(P313A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(S320L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(L322F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(R329K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(S336G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(V344I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(V344G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(G351S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(D353E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC132090228, PRKCH
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC132090228, PRKCH
(R373T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC132090228, PRKCH
(V374I)
Single nucleotide variant
(missense variant)
Cerebral infarction, susceptibility to
Grisk factor
PRKCH
(R405K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(R428C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(I445V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PRKCH
(R450H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(E453K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(R457C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(M468V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(M468T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(E490K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(G550V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRKCH
(H606Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(P612S)
Single nucleotide variant
(missense variant)
PRKCH-related disorder
GLikely benign
PRKCH
(A620V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(M665V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCH
(E670D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HIF1A, HIF1A-AS2
+47 more
Copy number loss
not provided
GPathogenic
ACOT4, ACOT6
+353 more
Copy number gain
not provided
GPathogenic
ACTR10, AKAP5
+71 more
Copy number gain
not provided
GLikely pathogenic
ABHD12B, ABHD4
+289 more
Copy number gain
not provided
GPathogenic
ACTR10, ARID4A
+32 more
Copy number loss
not provided
GLikely pathogenic
ABCD4, ABHD12B
+447 more
Copy number gain
See cases
GPathogenic
AP5M1, EXOC5
+158 more
Copy number gain
14q22.2q24.3 duplication
GLikely pathogenic
FNTB, AKAP5
+29 more
Copy number gain
not provided
GLikely pathogenic
HIF1A, HIF1A-AS2
+4 more
Copy number gain
not provided
Gnot provided
HIF1A, HIF1A-AS2
+9 more
Copy number gain
not provided
GUncertain significance
HIF1A, HIF1A-AS2
+4 more
Duplication
not provided
Gnot provided
ABCD4, ABHD12B
+624 more
Copy number gain
See cases
GPathogenic
PRKCH, TMEM30B
Copy number loss
See cases
GUncertain significance
ERG28, OR11G2
+635 more
Copy number gain
See cases
GPathogenic
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