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Items: 28

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
PRELID3B, SLMO2-ATP5E
(G150E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PRELID3B, SLMO2-ATP5E
(R157Q +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
SLMO2-ATP5E, PRELID3B
(I111T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PRELID3B, SLMO2-ATP5E
(D107G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PRELID3B, SLMO2-ATP5E
(F70L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PRELID3B, SLMO2-ATP5E
(K48R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PRELID3B, SLMO2-ATP5E
(M29V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC130066362, LOC130066363
+355 more
Copy number gain
See cases
GPathogenic
LOC130066279, PRELID3B
+1 more
(E7G)
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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