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Items: 79

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
ABCB11, ATF2
+269 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+214 more
Copy number loss
See cases
GPathogenic
ATF2, ATP5MC3
+136 more
Copy number loss
See cases
GPathogenic
ATP5MC3, ATF2
+159 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+150 more
Copy number loss
See cases
GPathogenic
ATF2, ATP5MC3
+68 more
Copy number loss
See cases
GPathogenic
ATF2, ATP5MC3
+66 more
Copy number loss
See cases
GPathogenic
ATF2, ATP5MC3
+66 more
Copy number gain
See cases
Gconflicting data from submitters
SP3
(M712V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(I761T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(A755T +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SP3
(G747E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(Q674H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(A662S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SP3
(T702fs +2 more)
Deletion
(frameshift variant)
See cases
GUncertain significance
SP3
(I700T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(G524R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(E588G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SP3
(Q558H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(I526L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(I461V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SP3
(G498R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(T479A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(I411T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(N441S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(I421V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(Q306R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(S297F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(S352R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(I340M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(T274R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(N253S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(D301G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(G226R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(G180A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(Q165R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(N143H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(S202N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(V162E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(T161A +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SP3
(V154I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(Q138P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(P113A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(T112I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(T112A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(P106S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(A37G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(A87V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(A21S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(G18V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP3
(D53H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
AGPS, ATF2
+47 more
Deletion
Split hand-foot malformation 5
GPathogenic
CIR1, OLA1
+3 more
Copy number loss
not specified
GUncertain significance
CIR1, OLA1
+3 more
Copy number loss
not specified
GUncertain significance
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
ATF2, ATP5MC3
+22 more
Copy number gain
not provided
Gnot provided
PJVK, RBM45
+60 more
Copy number loss
3-4 finger osseus syndactyly
+1 more
GPathogenic
ABCB11, AGPS
+97 more
Copy number loss
2q24 microdeletion syndrome
GPathogenic
AGPS, ANKAR
+86 more
Copy number loss
not provided
GPathogenic
CIR1, OLA1
+3 more
Copy number loss
not provided
GUncertain significance
CDCA7, CIR1
+8 more
Copy number loss
not provided
GUncertain significance
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
ABCB11, AGPS
+125 more
Copy number loss
not provided
GPathogenic
AGPS, ATF2
+56 more
Copy number loss
not provided
GPathogenic
ATF2, ATP5MC3
+27 more
Copy number gain
not provided
GPathogenic
AGPS, ATF2
+29 more
Copy number loss
not provided
GPathogenic
ATF2, ATP5MC3
+10 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
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
ATF2, ATP5MC3
+9 more
Copy number loss
See cases
GLikely pathogenic
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