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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997450, LOC129997451
+1002 more
Copy number gain
See cases
GPathogenic
LOC129389692, LOC129389693
+614 more
Copy number gain
See cases
GPathogenic
LOC129389719, LOC129389720
+866 more
Copy number gain
See cases
GPathogenic
ADGB, ADGB-DT
+227 more
Copy number loss
See cases
GPathogenic
LOC132089373, LOC132090771
+172 more
Copy number loss
See cases
GPathogenic
GINM1, KATNA1
+107 more
Copy number gain
See cases
GUncertain significance
GINM1, IYD
+131 more
Copy number loss
See cases
GPathogenic
GINM1, KATNA1
+69 more
Copy number loss
See cases
GPathogenic
GINM1, LOC129997435
(G3S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1, LOC129997435
(G37E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1
(D41N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1
(I56V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GINM1
(N64D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1
(N75S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1
(C88G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1
(I109V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1
(W119R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1
(G124R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1
(V149I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1
(D153V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1
(R159Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GINM1
(Y167C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1
(M175V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1
(S178P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1
(I185V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1
(E218K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GINM1
(W244G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABRACL, ADAT2
+155 more
Copy number gain
not specified
GPathogenic
AKAP12, ARMT1
+31 more
Copy number loss
not provided
GPathogenic
AKAP12, ARID1B
+58 more
Copy number gain
not provided
GPathogenic
GINM1, KATNA1
+17 more
Copy number loss
See cases
GPathogenic
ADGB, EPM2A
+22 more
Copy number loss
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
GINM1, KATNA1
+6 more
Copy number loss
See cases
GLikely pathogenic
ADAT2, ADGB
+42 more
Copy number loss
See cases
GPathogenic
ADGB, AKAP12
+42 more
Copy number loss
See cases
GPathogenic
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