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Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAL, CATSPER2
+69 more
Copy number loss
See cases
GLikely pathogenic
CKMT1A, CTDSPL2
+42 more
Copy number loss
See cases
GUncertain significance
WDR76
(A38S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
WDR76
(A52S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
WDR76
(K9E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(K18N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(K87N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(T118A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(I106T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(D111E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(R190C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(M154V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(S165T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(L239F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(N263S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
WDR76
(K203R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(G204R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(I252V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
WDR76
(V332A +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
WDR76
(P284H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(N372S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(R386H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(V334M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(S404R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(T380N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(K386E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(H393Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(S462G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(L534F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(R546Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(Q552R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(C498S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(R509Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(H578R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(E515A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(L528F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(V531L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(R605W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(I543S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(N612T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(M557I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR76
(E559G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTC1, ADAL
+200 more
Copy number gain
not specified
GPathogenic
CKMT1A, ELL3
+7 more
Copy number gain
not provided
GUncertain significance
ADAL, AFG2B
+103 more
Deletion
not provided
GPathogenic
BLOC1S6, C15orf48
+61 more
Copy number loss
not specified
GPathogenic
ADAL, CATSPER2
+24 more
Copy number loss
not provided
GUncertain significance
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
TGM5, PDIA3
+22 more
Copy number gain
not provided
GUncertain significance
AP4E1, ARPP19
+76 more
Copy number loss
not provided
GPathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
ADAL, AFG2B
+107 more
Copy number loss
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
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