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Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARHGAP15, ARHGAP15-AS1
+75 more
Copy number loss
See cases
GPathogenic
ARHGAP15, ARHGAP15-AS1
+50 more
Copy number loss
See cases
GPathogenic
ACVR2A, ARHGAP15
+57 more
Copy number loss
See cases
GPathogenic
ARHGAP15, ARHGAP15-AS1
+43 more
Copy number loss
See cases
GPathogenic
GTDC1, LOC101928386
+12 more
Copy number loss
See cases
GPathogenic
ACVR1, ACVR1C
+238 more
Copy number gain
See cases
GPathogenic
GTDC1, LINC01412
+17 more
Copy number gain
See cases
GUncertain significance
GTDC1, LOC101928386
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
GTDC1, LOC101928386
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
GTDC1, LOC101928386
(P318L +9 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
GTDC1, LOC101928386
(A306V +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GTDC1, LOC101928386
(A435T +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
GTDC1, LOC101928386
(A450V +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GTDC1, LOC101928386
(P282R +11 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GTDC1, LOC101928386
(F367L +8 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
GTDC1, LOC101928386
(L308W +11 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GTDC1, LOC101928386
(C237S +11 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GTDC1
(G320V +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GTDC1
(F150S +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GTDC1, LINC01412
+13 more
Copy number loss
See cases
GPathogenic
GTDC1
(C142Y +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GTDC1
(S224G +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GTDC1
(G162S +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GTDC1, LINC01412
+15 more
Deletion
Mowat-Wilson syndrome
GPathogenic
GTDC1
(P134A +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GTDC1
(I131T +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
GTDC1
(R28G +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GTDC1
(S122N +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GTDC1
(D146N +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GTDC1
(M130T +2 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
GTDC1
(F124C +1 more)
Single nucleotide variant
(missense variant +2 more)
Myoepithelial tumor
GUncertain significance
GTDC1, LOC110120671
+10 more
Copy number loss
See cases
GPathogenic
GTDC1
(R43G)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
GTDC1
(R43W)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
GTDC1
(V29D)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
GTDC1
(E24V)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
GTDC1
(S13T)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
GTDC1, LINC01412
+15 more
Copy number loss
See cases
GPathogenic
GTDC1
Copy number loss
not specified
GUncertain significance
ACMSD, ACVR2A
+26 more
Copy number gain
not specified
GLikely pathogenic
ARHGAP15, GTDC1
+3 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
EPB41L5, ERCC3
+120 more
Copy number gain
2q13q22.3 microduplication syndrome
GPathogenic
ACVR2A, ARHGAP15
+17 more
Copy number loss
not specified
GPathogenic
ARHGAP15, GTDC1
+5 more
Copy number loss
not specified
GLikely pathogenic
ACVR2A, ARHGAP15
+17 more
Copy number gain
not provided
GPathogenic
GTDC1, ZEB2
Copy number gain
not provided
GUncertain significance
GPR39, IL1F10
+122 more
Copy number gain
not provided
GPathogenic
ACVR2A, ARHGAP15
+28 more
Copy number gain
Global developmental delay
+2 more
GPathogenic
ZEB2, HNMT
+7 more
Deletion
Mowat-Wilson syndrome
GPathogenic
ZEB2, GTDC1
Copy number gain
not provided
GUncertain significance
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
GTDC1, ZEB2
Copy number loss
See cases
GPathogenic
GTDC1, KYNU
+7 more
Duplication
MBD5 associated neurodevelopmental disorder
GPathogenic
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