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Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADNP
+635 more
Copy number gain
20q13.13qter duplication
GPathogenic
LOC130066385, LOC130066386
+553 more
Copy number gain
See cases
GLikely pathogenic
LOC121627913, LOC121853014
+175 more
Copy number gain
See cases
GLikely pathogenic
LOC130066289, LOC130066290
+491 more
Copy number gain
See cases
GPathogenic
LOC130066383, LOC130066384
+464 more
Copy number gain
See cases
GPathogenic
GNAS, GNAS-AS1
+16 more
Copy number gain
See cases
GUncertain significance
NPEPL1, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
STX16-NPEPL1, NPEPL1
(G5W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(A12T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130066260, NPEPL1
+1 more
(R20P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130066260, NPEPL1
+1 more
(L28P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130066260, NPEPL1
+1 more
(H38Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130066260, NPEPL1
+1 more
(R46W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130066260, NPEPL1
+1 more
(E50K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(S9G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(H86Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(A44T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(V84M +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(V84A +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(R129Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(R142W +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(R115C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(N160S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(G177S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(V130M +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(R131Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(V185M +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(N162S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(E163K +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(D167N +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(E199K +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(G181E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(T174M +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(A235T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(A256G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(V242I +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
NPEPL1, STX16-NPEPL1
(K251E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(T341M +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(V305M +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(D363N +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(A346V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(T379I +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(A337V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(V408M +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(R436Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(D389V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(G405S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(G479C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(F459L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NPEPL1, STX16-NPEPL1
(D468N +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
APCDD1L, ATP5F1E
+14 more
Duplication
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
ABHD16B, ADRM1
+113 more
Copy number gain
See cases
GUncertain significance
LAMA5, LIME1
+88 more
Copy number gain
not specified
GPathogenic
ANKRD60, APCDD1L
+25 more
Copy number loss
not specified
GPathogenic
ANKRD60, APCDD1L
+36 more
Deletion
not provided
GUncertain significance
GATA5, ZBTB46
+116 more
Copy number gain
not provided
GPathogenic
BHLHE23, ZGPAT
+87 more
Copy number gain
not provided
GPathogenic
CDH4, CHRNA4
+68 more
Copy number gain
not provided
GPathogenic
ADRM1, ANKRD60
+86 more
Copy number gain
not provided
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+116 more
Copy number gain
See cases
GLikely pathogenic
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