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Items: 56

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
MRPS5
(R340C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
(D241E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
(L406R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
(V238I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
MRPS5
(S220F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
(C211S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MRPS5
(L196V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
(Q268R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
MRPS5
(M342I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
(N175S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
(K251T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
(R236H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
(P143A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
(D100V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
(R264Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
(P205L +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MRPS5
(P205S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MRPS5
(E190D +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MRPS5
(R110Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MRPS5
(R110W +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MRPS5
(V108F +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MRPS5
(E99G +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MRPS5
(M172V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
(G28D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
(M149V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPS5
(E26Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MRPS5
(Q68E)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MRPS5
(R65H)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GLikely benign
MRPS5
(A61S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MRPS5
(S28F)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MRPS5
(A19T)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MRPS5
(S16I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MRPS5
(G9C)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
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
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
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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