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Links from Gene

Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLHL42
(I346M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL42
(T193I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL42
(P329H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL42
(A271V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL42
(V197L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL42
(A175V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL42
(G141W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL42
(R14G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
BMAL2, CCDC91
+7 more
Copy number gain
not provided
GLikely pathogenic
FGD4, FGF23
+278 more
Duplication
not provided
GPathogenic
KLHL42
(L255V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL42
(N332T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND5B, DERA
+278 more
Copy number gain
Pallister-Killian syndrome
GPathogenic
KLHL42, MANSC4
+2 more
Duplication
not provided
GUncertain significance
KLHL42
(G47D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL42
(A137S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL42
(D322G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3AR1, CACNA1C
+278 more
Copy number gain
not specified
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
KLHL42, MANSC4
+3 more
Copy number gain
not provided
GUncertain significance
BCAT1, BHLHE41
+27 more
Copy number loss
not provided
GPathogenic
ART4, DYRK4
+278 more
Copy number gain
not provided
GPathogenic
CLEC1B, CLEC2A
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
BICD1, HDAC7
+212 more
Inversion
not specified
GUncertain significance
A2M, A2ML1
+256 more
Copy number gain
See cases
GPathogenic
KCNA6, KCNJ8
+273 more
Copy number gain
See cases
GLikely pathogenic
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
ACSM4, CCND2
+278 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
ALG10, AMN1
+242 more
Copy number loss
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
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