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Items: 90

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTR1B, ADRA2B
+331 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+550 more
Copy number gain
See cases
GPathogenic
FAHD2A, FAM95A
+26 more
Copy number gain
See cases
GLikely benign
LOC129934355, LOC129934356
+348 more
Copy number gain
See cases
GPathogenic
FAHD2A, KCNIP3
+13 more
Copy number gain
See cases
GUncertain significance
FAHD2A, KCNIP3
+12 more
Copy number loss
See cases
GUncertain significance
FAHD2A, KCNIP3
+11 more
Copy number loss
See cases
GUncertain significance
PROM2
(G26E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(R48W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(A51T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(S72L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(K95N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(V96M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(R101W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(R101L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(R134Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(R139Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(A148T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(A153S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(R178H)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PROM2
(T179M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(I187F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(E188K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(L197F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(V211M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(S216P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(A250V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(L255V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(G256S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(E275K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PROM2
(R291W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(D306V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(A342T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PROM2
(K374T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(R66H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(V431M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(V90A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(V93M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(A465T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(G470E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(R126H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PROM2
(P141L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(V156M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(G523A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(P181S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(Q199P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(Y231C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(R236W +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PROM2
(S241T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(F622L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(T287I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(A302S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(E661D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(L339I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(L697I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(S356L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(D703G +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PROM2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROM2
(Y741N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(V742M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(T404I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(L417V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(N419S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(R767C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(R767H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(A780T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(F444L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PROM2
(K804E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROM2
(R466H +1 more)
Single nucleotide variant
(missense variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
ACTR1B, ADRA2B
+64 more
Copy number gain
not provided
GLikely pathogenic
FAHD2A, KCNIP3
+8 more
Copy number gain
not provided
GUncertain significance
FAHD2A, KCNIP3
+5 more
Copy number gain
not provided
GUncertain significance
ACTR1B, ADRA2B
+54 more
Copy number gain
not provided
GLikely pathogenic
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ANKRD36C, FAHD2A
+10 more
Copy number loss
not specified
GUncertain significance
FAHD2A, KCNIP3
+7 more
Copy number gain
not provided
GUncertain significance
KCNIP3, PROM2
+5 more
Copy number gain
Autism
+1 more
GUncertain significance
FAHD2A, KCNIP3
+3 more
Copy number loss
not provided
GUncertain significance
FAHD2A, KCNIP3
+7 more
Copy number gain
not provided
GUncertain significance
ANKRD36C, FAHD2A
+10 more
Copy number loss
not provided
GUncertain significance
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
ACTR1B, ADRA2B
+86 more
Copy number gain
See cases
GUncertain significance
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+88 more
Copy number gain
See cases
GPathogenic
FAHD2A, KCNIP3
+2 more
Copy number gain
See cases
GUncertain significance
AFF3, ADRA2B
+53 more
Copy number gain
See cases
GPathogenic
TEKT4, ZNF2
+5 more
Copy number gain
Premature ovarian failure
GUncertain significance
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