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Links from Gene

Items: 82

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBXO43
(S174T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBXO43
(C681G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(E565K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(G463A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
FBXO43
(R570Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
FBXO43
(V287I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(Q229H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(D136N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(H107Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(T102I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(R660Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(R457I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(H447Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COX6C, FBXO43
+4 more
Copy number gain
not specified
GUncertain significance
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
ANKRD46, COX6C
+10 more
Copy number loss
not provided
GUncertain significance
ANKRD46, ATP6V0D2
+96 more
Copy number gain
not provided
GPathogenic
FBXO43
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBXO43
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBXO43
(R504G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(S423N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(G559R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(N257K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(E426D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBXO43
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBXO43
(A43V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(D236N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(S349T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(V183I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(C523W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(D471N)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
FBXO43
(Y105C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD46, ATP6V1C1
+40 more
Duplication
not provided
GUncertain significance
FBXO43
(N531K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(L306P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(R703Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(S228A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(D350G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO43
(R9I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COX6C, FBXO43
+5 more
Copy number gain
not provided
GUncertain significance
AARD, ABRA
+141 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+335 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+285 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
FZD6, PCAT1
+236 more
Copy number gain
not provided
GPathogenic
DCAF4L2, DCSTAMP
+333 more
Copy number gain
not specified
GPathogenic
ANKRD46, ATP6V1C1
+34 more
Duplication
Cohen syndrome
GUncertain significance
FBXO43
(D52fs)
Deletion
(frameshift variant +1 more)
Oocyte maturation defect 12
GPathogenic
FBXO43
Duplication
(nonsense +1 more)
Oocyte maturation defect 12
GPathogenic
FBXO43
Single nucleotide variant
(nonsense +1 more)
Spermatogenic failure 64
+1 more
GPathogenic
FBXO43
Single nucleotide variant
(missense variant +1 more)
Spermatogenic failure 64
GPathogenic
POLR2K, RNF19A
+5 more
Copy number gain
not provided
GUncertain significance
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
DCAF13, CNGB3
+105 more
Copy number gain
not provided
GPathogenic
COX6C, UBR5
+17 more
Copy number loss
not provided
GPathogenic
AARD, ABRA
+277 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+593 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
FGF20, FGFR1
+665 more
Copy number gain
See cases
GPathogenic
RRM2B, SLC30A8
+160 more
Copy number gain
See cases
GPathogenic
SLC45A4, SLC7A13
+189 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+228 more
Copy number gain
See cases
GPathogenic
SCRT1, SCX
+665 more
Copy number gain
See cases
GPathogenic
SPAG1, VPS13B
+4 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
LOC105375713, LOC105375742
+1553 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
LOC126860535, LOC126860536
+1687 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1330 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1691 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC130001109, LOC130001110
+1532 more
Copy number gain
See cases
GPathogenic
LOC130000846, LOC130000847
+96 more
Copy number loss
See cases
GLikely pathogenic
AARD, ABRA
+1153 more
Copy number gain
See cases
GPathogenic
LOC130001226, LOC130001227
+1407 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
ANKRD46, FBXO43
+77 more
Copy number gain
See cases
GPathogenic
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