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Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTR1B, ADRA2B
+550 more
Copy number gain
See cases
GPathogenic
AFF3, C2orf15
+373 more
Copy number gain
See cases
GPathogenic
ACOXL, BUB1
+241 more
Copy number gain
See cases
GPathogenic
ACOXL, ACOXL-AS1
+154 more
Copy number gain
See cases
GUncertain significance
CCDC138, CD8B2
+99 more
Copy number gain
See cases
GUncertain significance
CCDC138, EDAR
+93 more
Copy number gain
See cases
GUncertain significance
CCDC138, EDAR
+67 more
Copy number loss
See cases
GUncertain significance
CCDC138, EDAR
+56 more
Copy number loss
See cases
GUncertain significance
CCDC138, EDAR
+51 more
Copy number loss
See cases
GPathogenic
CCDC138, EDAR
+50 more
Copy number loss
See cases
GUncertain significance
CCDC138, EDAR
+44 more
Copy number loss
See cases
GUncertain significance
CCDC138, EDAR
+42 more
Copy number gain
See cases
GUncertain significance
CCDC138, EDAR
+61 more
Copy number gain
See cases
GUncertain significance
LOC112695115, LOC126806305
+33 more
Copy number gain
Autism spectrum disorder
GUncertain significance
RANBP2, SEPTIN10
(R315L +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(F199S +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(A367V +12 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(R166L +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(G334D +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(R144L +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(N297Y +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(L112P +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(R166Q +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(Q112H +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(Q256E +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(R255H +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(R255C +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(V243G +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(V260I +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(M107I +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(K106N +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(G104R +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(M223V +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(V220A +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(F227L +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(F259L +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(D221G +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(N190S +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(I181V +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(I17M +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RANBP2, SEPTIN10
(N154D +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(H142D +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(G168D +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(P166L +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(F146L +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(Y135C +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(V142L +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(Y152C +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(Y121C +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(A106V +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(Y130C +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(Y101C +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(L50V +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(G58E +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(Q31R +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(G16D +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(G13S +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
RANBP2, SEPTIN10
(M11V +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(S8L +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(R16H +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(R30C +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(M23V +2 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
RANBP2, SEPTIN10
(T9M +2 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
LOC129934550, RANBP2
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LOC129934550, RANBP2
+1 more
(V6M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129934550, RANBP2
+1 more
(A2V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ACOXL, ACTR3
+121 more
Copy number loss
not specified
GPathogenic
ACOXL, ANAPC1
+27 more
Copy number loss
not specified
GPathogenic
CCDC138, EDAR
+9 more
Copy number gain
not specified
GUncertain significance
CCDC138, EDAR
+15 more
Copy number gain
not provided
GUncertain significance
CCDC138, EDAR
+4 more
Copy number loss
not provided
GUncertain significance
ACOXL, ANAPC1
+28 more
Copy number loss
not provided
GPathogenic
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
SOWAHC, CCDC138
+4 more
Copy number loss
Autism
GPathogenic
CCDC138, EDAR
+10 more
Copy number gain
MISSED ABORTION
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
CCDC138, EDAR
+10 more
Copy number loss
not specified
GPathogenic
CCDC138, EDAR
+4 more
Copy number gain
not provided
GUncertain significance
ANAPC1, SULT1C4
+28 more
Copy number loss
not provided
GPathogenic
SULT1C4, GCC2
+10 more
Copy number loss
not provided
GLikely pathogenic
CCDC138, EDAR
+4 more
Copy number loss
not provided
GLikely pathogenic
EDAR, CCDC138
+7 more
Copy number gain
not provided
GUncertain significance
C2orf15, C2orf49
+122 more
Copy number gain
not provided
GPathogenic
NPHP1, CCDC138
+18 more
Copy number loss
not provided
GLikely pathogenic
SEPTIN10, SOWAHC
+10 more
Copy number gain
not provided
GUncertain significance
CCDC138, EDAR
+4 more
Copy number loss
not provided
GUncertain significance
ACOXL, BCL2L11
+20 more
Duplication
not provided
GLikely pathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
CCDC138, EDAR
+9 more
Copy number gain
See cases
GUncertain significance
BUB1, PSD4
+53 more
Copy number loss
See cases
GPathogenic
TMEM87B, IL37
+40 more
Copy number loss
See cases
GPathogenic
RGPD8, ACTR3
+63 more
Copy number loss
See cases
GPathogenic
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