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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129933311, LOC129933312
+1631 more
Copy number gain
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
ABCG5, ABCG8
+443 more
Copy number gain
See cases
GPathogenic
LOC129933708, LOC129933709
+104 more
Copy number gain
See cases
GUncertain significance
ATP6V1E2
(G217S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1E2
(M213T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1E2
(K191T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1E2
(M156I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1E2
(R135H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1E2
(V131M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1E2
(Q122R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1E2
(R87Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1E2
(R80K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1E2
(I64T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1E2
(R50Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1E2
(D31G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1E2
(V8M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1E2, CRIPT
+4 more
Duplication
not provided
GUncertain significance
CAMKMT, CDKL4
+52 more
Duplication
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ATP6V1E2, EPAS1
+2 more
Copy number gain
not specified
GUncertain significance
TTC7A, ATP6V1E2
+13 more
Copy number gain
not provided
GUncertain significance
ABCG5, ABCG8
+100 more
Copy number gain
not provided
GPathogenic
CALM2, ATP6V1E2
+12 more
Copy number gain
not provided
GUncertain significance
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
HNRNPLL, KCNG3
+52 more
Inversion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
ABCG5, ABCG8
+139 more
Copy number gain
See cases
GPathogenic
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