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Items: 51

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
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
LOC129935084, LOC129935085
+54 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
METAP1D
(H8R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
METAP1D
(R43Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
METAP1D
(D47A)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
METAP1D
(S51G)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
METAP1D
(V58A)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
METAP1D
(P63L)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
METAP1D
(Y73N)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
METAP1D
(T75M)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
METAP1D
(H98R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GLikely benign
METAP1D
(R105C)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
METAP1D
(Y20C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
METAP1D
(P141S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
METAP1D
(S32F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
METAP1D
(V158M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
METAP1D
(H161R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
METAP1D
(R49Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
METAP1D
(T190N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
METAP1D
(A105P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
METAP1D
(P226S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
METAP1D
(T120A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
METAP1D
(H130Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
METAP1D
(S193A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
METAP1D
(S311L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
METAP1D
(T203P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
METAP1D
(K212T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
METAP1D
(K330N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCB11, B3GALT1
+57 more
Copy number loss
not specified
GPathogenic
CDCA7, CYBRD1
+15 more
Duplication
not provided
GUncertain significance
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
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
DLX1, HAT1
+2 more
Copy number gain
not provided
GUncertain significance
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
ABCB11, AGPS
+125 more
Copy number loss
not provided
GPathogenic
HAT1, METAP1D
+1 more
Copy number gain
not provided
GUncertain significance
ATF2, ATP5MC3
+27 more
Copy number gain
not provided
GPathogenic
SLC25A12, DLX1
+5 more
Copy number gain
Isolated Pierre-Robin syndrome
+3 more
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
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