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Items: 1 to 100 of 142

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANTKMT, ARHGDIG
+194 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+210 more
Copy number loss
See cases
GPathogenic
ABAT, ABCA3
+822 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
ARHGDIG, AXIN1
+59 more
Copy number loss
See cases
GUncertain significance
EEF2KMT, ELOB
+917 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+224 more
Copy number loss
See cases
GPathogenic
NHLRC4, NME4
+119 more
Copy number loss
See cases
GPathogenic
LOC125146383, LOC125146384
+556 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+179 more
Copy number loss
See cases
GPathogenic
ABAT, ABCA3
+843 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+253 more
Copy number loss
See cases
GPathogenic
ARHGDIG, ATP6V0C
+482 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+130 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+164 more
Copy number loss
See cases
GPathogenic
ARHGDIG, AXIN1
+34 more
Copy number gain
See cases
GPathogenic
ANTKMT, CAPN15
+76 more
Copy number gain
See cases
GUncertain significance
RAB11FIP3
(A7P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(P9S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(P15L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(P27R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RAB11FIP3
(A37T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RAB11FIP3
(G42R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(P48R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(A72P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(P74L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(A75T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(A89S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(P96Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(D104N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(D104A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(P110Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(S112C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(P121Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(P129L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(R144L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(R153Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(R155Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(P163A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(P182L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(Q183H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(S185A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(S185L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RAB11FIP3
(G235R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(G269R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(P271L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RAB11FIP3
(G278D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(P291L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(G30R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RAB11FIP3
(M48V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(M358T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(D52N +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
RAB11FIP3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RAB11FIP3
(P370S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(G371V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RAB11FIP3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RAB11FIP3
(T405N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAPN15, LINC00235
+4 more
Copy number gain
See cases
GBenign/Likely benign
RAB11FIP3
(H437Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(A446S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(A491V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(L144F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(A191V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(V209I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(R214Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(E587K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(R604Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(I259T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(E264K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(E285K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(E595D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(K287R +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RAB11FIP3
(R648K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(D304H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(Q641R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(R333W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(R643Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(S692G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(H655R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(E751K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAB11FIP3
(R733C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB11FIP3
(V788A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN15, LINC00235
+3 more
Copy number loss
See cases
GBenign
TELO2, STUB1
+53 more
Deletion
not provided
GPathogenic
ANTKMT, AXIN1
+34 more
Duplication
Idiopathic generalized epilepsy
+1 more
GUncertain significance
ABCA3, AMDHD2
+142 more
Duplication
Idiopathic generalized epilepsy
+2 more
GUncertain significance
PRR35, ANTKMT
+65 more
Copy number loss
not provided
GPathogenic
ANTKMT, ARHGDIG
+64 more
Deletion
Hyperaldosteronism, familial, type IV
+1 more
GUncertain significance
C1QTNF8, CACNA1H
+67 more
Deletion
not provided
GUncertain significance
ANTKMT, ARHGDIG
+55 more
Deletion
not provided
GPathogenic
TIGD7, TMEM204
+170 more
Duplication
Idiopathic generalized epilepsy
+3 more
GUncertain significance
ARHGDIG, AXIN1
+13 more
Deletion
Epilepsy
GPathogenic

Items: 1 to 100 of 142

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