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Links from Gene

Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APCDD1L
(Q100H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(R431K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(I60V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APCDD1L
(R75C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(I428N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(A344T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(V129I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L, ATP5F1E
+14 more
Duplication
Amyotrophic lateral sclerosis type 8
+1 more
GUncertain significance
ABHD16B, ADNP
+635 more
Copy number gain
20q13.13qter duplication
GPathogenic
APCDD1L
(V302A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(R261H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(V261L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(V250M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(V156G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(R139P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(R139H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(S114P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(R86G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(R94W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(S93C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(L509F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(P451T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(R78L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(P175L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(L421P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(D43Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABHD16B, ADRM1
+113 more
Copy number gain
See cases
GUncertain significance
APCDD1L
(L413V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(G383R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(G381R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(P412L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(P42Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APCDD1L
(I439T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(V269M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(V13L)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
APCDD1L
(T340M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(R241H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
APCDD1L
(G27R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APCDD1L
(R54C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APCDD1L
(R43H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
APCDD1L
(G429R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(A159E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(L55P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APCDD1L
(A3S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
APCDD1L
(H249Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(G119V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(A257S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(L42P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APCDD1L
(G358S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(D263Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(L307P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(A152V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(D461N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(T451I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APCDD1L
(E412K +1 more)
Single nucleotide variant
(missense variant)
not specified
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
APCDD1L, VAPB
Copy number gain
not provided
GUncertain significance
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
LOC130066385, LOC130066386
+553 more
Copy number gain
See cases
GLikely pathogenic
LOC130066383, LOC130066384
+464 more
Copy number gain
See cases
GPathogenic
LOC130066289, LOC130066290
+491 more
Copy number gain
See cases
GPathogenic
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
LOC121627913, LOC121853014
+175 more
Copy number gain
See cases
GLikely pathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
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