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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ANXA9, BNIPL
+59 more
Copy number loss
See cases
GLikely pathogenic
TMOD4
(N336K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(R334Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(E307Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(R286H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(V232A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(T224I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(E185V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(P177S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(V164M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(S162N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(L150F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(K144E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(E113D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(G94A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(R65Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(R52C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD4
(D17E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACP6, ADAM15
+263 more
Copy number gain
not specified
GPathogenic
ACP6, ADAM15
+315 more
Copy number gain
not specified
GPathogenic
ACP6, ADAM15
+293 more
Copy number gain
Chromosome 1q21.1 duplication syndrome
GPathogenic
CRTC2, KHDC4
+228 more
Duplication
MHC class II deficiency
+3 more
GUncertain significance
PSMB4, PIP5K1A
+14 more
Duplication
Severe myoclonic epilepsy in infancy
GUncertain significance
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
LCE2A, S100A2
+125 more
Copy number gain
not provided
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ACP6, ADAMTSL4
+103 more
Copy number gain
See cases
GPathogenic
CIART, LCE2A
+154 more
Copy number gain
Chromosome 1q21.1 duplication syndrome
GPathogenic
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