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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GSTA3, GSTA4
+228 more
Copy number loss
See cases
GPathogenic
BAG2, BEND6
+171 more
Copy number loss
See cases
GPathogenic
CILK1, EFHC1
+119 more
Copy number gain
See cases
GPathogenic
EFHC1, IL17A
+58 more
Copy number loss
See cases
GPathogenic
EFHC1, LOC110121250
+5 more
Copy number loss
See cases
GUncertain significance
PAQR8
(Q44H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(T58M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(T107A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PAQR8
(I120V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(L128V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(S136L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(Y148C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(Y172C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(R174W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(P181S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(C186R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(A192V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(Y205H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(H236Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(L237V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(P272L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(H280R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(V320A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(A338T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(A338S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(T350N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAQR8
(D353Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CILK1, EFHC1
+30 more
Copy number loss
not provided
GPathogenic
PAQR8, PGK2
+92 more
Copy number gain
not provided
GLikely pathogenic
EFHC1, PAQR8
+2 more
Copy number gain
not provided
GUncertain significance
CILK1, EFHC1
+15 more
Deletion
not provided
GUncertain significance
TFAP2D, TINAG
+43 more
Copy number loss
See cases
GLikely pathogenic
EFHC1, IL17A
+7 more
Copy number loss
Autosomal recessive polycystic kidney disease
GPathogenic
EFHC1, IL17A
+6 more
Copy number gain
not provided
GUncertain significance
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
PAQR8, EFHC1
Copy number loss
not provided
GUncertain significance
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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