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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
ACTR10, AKAP5
+344 more
Copy number loss
See cases
GPathogenic
LOC132090233, LOC132090234
+264 more
Copy number loss
See cases
GPathogenic
AKAP5, CHURC1
+130 more
Copy number loss
See cases
GPathogenic
HSPA2, LOC130055837
(A7S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(A44T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(K72N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(P102S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(E107G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(T112S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(T114N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(S142N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(N169S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(R239L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(I256V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(T298M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(R304L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(F305L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(T316S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(E361K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HSPA2
(D393E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(K418E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(M452L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(K461E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(A470S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(Q523R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HSPA2
(R562K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(M589T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
(E591K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HSPA2
(G631R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCNK, MIR376A1
+353 more
Copy number gain
not provided
GPathogenic
ACTR10, AKAP5
+71 more
Copy number gain
not provided
GLikely pathogenic
AREL1, ARF6
+447 more
Copy number gain
See cases
GPathogenic
AKAP5, CHURC1
+16 more
Copy number gain
See cases
GUncertain significance
ISCA2, TMEM30B
+158 more
Copy number gain
14q22.2q24.3 duplication
GLikely pathogenic
FNTB, AKAP5
+29 more
Copy number gain
not provided
GLikely pathogenic
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
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