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Items: 1 to 100 of 116

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006570, LOC130006571
+474 more
Copy number loss
See cases
GPathogenic
KBTBD3, KDM4D
+528 more
Copy number loss
See cases
GPathogenic
ANKRD42, ANKRD42-DT
+117 more
Copy number gain
See cases
GPathogenic
ANKRD42, ANKRD42-DT
+28 more
Copy number gain
See cases
GUncertain significance
DLG2
(V331A +23 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
(I293T +23 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DLG2
(R215K +21 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
(E768G +21 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
DLG2
(R589G +21 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DLG2
(T158I +21 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
(E641G +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
(N634D +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
Microsatellite
(intron variant +1 more)
DLG2-related disorder
GUncertain significance
DLG2
(D34Y +13 more)
Single nucleotide variant
(missense variant +2 more)
DLG2-related disorder
GUncertain significance
DLG2
(R434C +13 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
Deletion
(splice donor variant)
DLG2-related disorder
GUncertain significance
DLG2
(A448D +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
(G386A +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DLG2
(A436V +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
(E479K +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
(G338E +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
(S414F +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
(R369W +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
(L514P +10 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
DLG2
(M322V +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
DLG2
(A298T +10 more)
Single nucleotide variant
(missense variant +1 more)
DLG2-related disorder
GLikely benign
DLG2
(A344P +7 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DLG2
(L479F +7 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DLG2
(S488N +7 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DLG2
(P333S +7 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DLG2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
DLG2
(P302S +7 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DLG2
(M292K +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
(P278A +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
(S256C +8 more)
Single nucleotide variant
(missense variant +1 more)
DLG2-related disorder
GUncertain significance
DLG2
(Y307C +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
(T230I +8 more)
Single nucleotide variant
(missense variant +1 more)
DLG2-related disorder
GUncertain significance
DLG2
(T217P +8 more)
Single nucleotide variant
(missense variant +1 more)
DLG2-related disorder
GUncertain significance
DLG2
(D178G +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2
(V182A +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2, LOC126861281
(S279F +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLG2, LOC126861281
(R101Q +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DLG2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DLG2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC130006541, LOC130006542
+1 more
Deletion
Schizophrenia
GLikely pathogenic
DLG2, LOC130006541
+1 more
Copy number gain
See cases
GUncertain significance
DLG2, LOC130006542
Copy number loss
See cases
GLikely benign
DLG2, LOC130006542
Deletion
Schizophrenia
GLikely pathogenic
DLG2
Copy number loss
See cases
GLikely benign
DLG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DLG2
(E35K +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DLG2
(H144Y +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLG2
(A128P +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC81, CCDC83
+51 more
Copy number gain
See cases
GUncertain significance
DLG2, LOC124902727
Copy number loss
See cases
GLikely benign
DLG2
Deletion
Schizophrenia
GLikely pathogenic
CCDC81, CCDC83
+50 more
Copy number gain
See cases
GUncertain significance
CCDC81, CCDC83
+50 more
Copy number gain
See cases
GUncertain significance
CCDC81, CCDC83
+50 more
Copy number gain
See cases
GUncertain significance
DLG2
Deletion
Schizophrenia
GLikely pathogenic
DLG2, LOC130006543
Copy number loss
See cases
GLikely benign
DLG2
(W112*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
LOC101929174, LOC102723838
+378 more
Copy number loss
See cases
GPathogenic
DLG2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DLG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DLG2, LOC130006547
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
DLG2, LOC130006547
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
DLG2, LOC130006547
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
DLG2
Copy number loss
not specified
GUncertain significance
DLG2
Copy number loss
not provided
GUncertain significance
DLG2
Copy number loss
not provided
GUncertain significance
DLG2
Copy number loss
not provided
GUncertain significance
AMOTL1, ANGPTL5
+93 more
Copy number loss
not provided
GPathogenic
ANKRD42, CCDC81
+23 more
Copy number loss
not provided
GPathogenic
ANKRD42, CCDC90B
+2 more
Copy number gain
not provided
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
CCDC83, CCDC89
+6 more
Copy number loss
not specified
GUncertain significance
C11orf54, CCDC81
+39 more
Copy number loss
not specified
GLikely pathogenic
AMOTL1, ANKRD42
+66 more
Copy number loss
not specified
GPathogenic
AMOTL1, ANKRD42
+72 more
Copy number loss
not specified
GPathogenic
DLG2
Copy number loss
not provided
GUncertain significance
DLG2
Copy number loss
not provided
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
DLG2
Copy number loss
not provided
GUncertain significance
ANKRD42, CCDC90B
+4 more
Copy number gain
not provided
GUncertain significance
DLG2
Copy number loss
not provided
GUncertain significance
CCDC81, CCDC83
+29 more
Copy number gain
not provided
GPathogenic
DLG2
Copy number loss
not provided
GUncertain significance
DLG2
Copy number loss
not provided
GUncertain significance
DLG2
Copy number loss
not provided
GUncertain significance
TMEM126A, PRSS23
+13 more
Copy number loss
not provided
GPathogenic
DLG2
Copy number loss
not provided
GUncertain significance
DLG2
Copy number loss
not provided
GUncertain significance
DLG2
Copy number loss
not provided
GUncertain significance
DLG2
Copy number loss
not provided
GUncertain significance
DLG2
Copy number gain
not provided
GUncertain significance
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