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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935011, LOC129935012
+530 more
Copy number gain
See cases
GPathogenic
ABCB11, AGPS
+488 more
Copy number loss
See cases
GPathogenic
LOC129935070, LOC129935071
+162 more
Copy number loss
See cases
GPathogenic
ABCB11, ATF2
+269 more
Copy number loss
See cases
GPathogenic
ERICH2, ERICH2-DT
+27 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
LOC129935084, LOC129935085
+54 more
Copy number loss
See cases
GPathogenic
ERICH2-DT, SP5
(M77I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(P86L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(L101M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(A108V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(E110Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(P112S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(V128F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(M135T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(A151G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(P157S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(P172R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(T174A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(I192V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(G198R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(G206R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(C213F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(A214T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(A214P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(A216D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(A228T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(A233G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(A234P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(A234T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(I254V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(K294Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(V300M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(P301R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(R364C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(H374R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERICH2-DT, SP5
(R392L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB11, B3GALT1
+57 more
Copy number loss
not specified
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
AGPS, ATF2
+47 more
Deletion
Split hand-foot malformation 5
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
METTL8, PSMD14
+67 more
Copy number loss
2q24 microdeletion syndrome
GPathogenic
ABCB11, AGPS
+97 more
Copy number loss
2q24 microdeletion syndrome
GPathogenic
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
ABCB11, AGPS
+125 more
Copy number loss
not provided
GPathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
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