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Items: 52

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
CFAP36, EFEMP1
+17 more
Copy number gain
See cases
GUncertain significance
PPP4R3B
(G816C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(R814C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(D830E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(Y827F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(K818Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(V729G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(S771T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(G753E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(S696N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(H693Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(P705S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(P646T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(V728A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(A706G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(A568V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(T620I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCL11A, CCDC85A
+83 more
Copy number loss
See cases
GPathogenic
PPP4R3B
(H529Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP4R3B
(C522Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP4R3B
(I501V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(D485G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(G432E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(V402I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(S381L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(M372L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(V371L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(D322H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(F317L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(K299R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(R237S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(T188I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(R158G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(R121Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(D104H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(N77T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(K36E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP4R3B
(D3H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC88A, CFAP36
+8 more
Copy number gain
not provided
GUncertain significance
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
CCDC85A, CCDC88A
+6 more
Copy number loss
not specified
GUncertain significance
PNPT1, PPP4R3B
+2 more
Copy number gain
not provided
GUncertain significance
ABCG5, ABCG8
+100 more
Copy number gain
not provided
GPathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
CCDC85A, CCDC88A
+6 more
Copy number loss
See cases
GUncertain significance
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ABCG5, ABCG8
+139 more
Copy number gain
See cases
GPathogenic
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