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Items: 46

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+307 more
Copy number loss
See cases
GPathogenic
LOC129935164, LOC129935165
+697 more
Copy number loss
See cases
GPathogenic
AGPS, ANKAR
+377 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
ANKAR, ASDURF
+312 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
CCDC141, CERKL
+104 more
Copy number loss
See cases
GPathogenic
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
CALCRL, CALCRL-AS1
+88 more
Copy number loss
See cases
GPathogenic
ANKAR, ASDURF
+191 more
Copy number loss
See cases
GPathogenic
DUSP19, LOC129935223
+1 more
Duplication
Primary amenorrhea
GLikely benign
NUP35
(Q9R)
Single nucleotide variant
(5 prime UTR variant +3 more)
not specified
GUncertain significance
NUP35
(G14V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
NUP35
(A28T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NUP35
(D79N +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NUP35
(D80E +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NUP35
(V124A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP35
(Q134K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP35
(R129Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP35
(T148M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP35
(I182M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP35
(M204V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP35
(M211I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP35
(A103V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP35
(D127A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP35
(T275I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP35
(T167I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP35
(S186F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP35
(K200E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DUSP19, NCKAP1
+1 more
Copy number gain
not provided
GUncertain significance
DNAJC10, DUSP19
+4 more
Copy number gain
not provided
GUncertain significance
DNAJC10, DUSP19
+6 more
Copy number gain
not provided
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
DUSP19, NCKAP1
+1 more
Deletion
not provided
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
DUSP19, FSIP2
+4 more
Copy number loss
not provided
Gnot provided
AGPS, ANKAR
+86 more
Copy number loss
not provided
GPathogenic
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
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
AGPS, ANKAR
+62 more
Copy number loss
See cases
GPathogenic
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