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Links from Gene

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXR1
(R259S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXR1
(V234A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCG4, ARCN1
+36 more
Deletion
not provided
GPathogenic
ABCG4, ARCN1
+36 more
Duplication
Atrial fibrillation, familial, 14
GUncertain significance
ABCG4, ACAD8
+177 more
Copy number gain
not provided
GPathogenic
FOXR1
(P214L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXR1
(P214R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXR1
(R211W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXR1
(S114C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXR1
(A101T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AASDHPPT, ABCG4
+275 more
Duplication
not provided
GPathogenic
FOXR1
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXR1
(E104D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXR1
(M238I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXR1
(R73H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCG4, ARCN1
+54 more
Duplication
not provided
GUncertain significance
ABCG4, APOA1
+72 more
Duplication
Immunodeficiency 19
+5 more
GUncertain significance
FOXR1
(R161Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXR1
(T212M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXR1
(G240S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXR1
(P154R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXR1
(L53V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXR1
(R245Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
RNF26, TAGLN
+73 more
Duplication
not provided
GUncertain significance
ABCG4, ACRV1
+172 more
Copy number gain
not provided
GPathogenic
ABCG4, C2CD2L
+14 more
Copy number gain
not provided
GUncertain significance
ARCN1, ATP5MG
+31 more
Duplication
Inflammatory bowel disease 28
+4 more
GUncertain significance
VSIG2, VWA5A
+259 more
Duplication
Distal trisomy 11q
GPathogenic
ARCN1, ATP5MG
+31 more
Deletion
Combined immunodeficiency due to CD3gamma deficiency
+3 more
GPathogenic
ABCG4, ARCN1
+33 more
Copy number gain
not provided
GUncertain significance
APLP2, LINC02873
+169 more
Deletion
Anemia
+7 more
GLikely pathogenic
FOXR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CD3G, CDON
+160 more
Copy number gain
not provided
GPathogenic
DDX6, DPAGT1
+36 more
Deletion
Long QT syndrome 10
GUncertain significance
BACE1, BACE1-AS
+176 more
Copy number gain
not provided
GPathogenic
ARHGAP32, ARHGEF12
+177 more
Copy number gain
not provided
GPathogenic
ABCG4, ACAD8
+177 more
Copy number gain
not provided
GPathogenic
ABCG4, APOA1
+70 more
Copy number gain
not provided
GLikely pathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+177 more
Copy number gain
See cases
GPathogenic
ABCG4, APOA1
+72 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
LOC130007002, LOC130007003
+499 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+769 more
Copy number gain
See cases
GPathogenic
BCL9L, BLID
+774 more
Copy number gain
See cases
GPathogenic
ABCG4, C2CD2L
+40 more
Copy number gain
See cases
GLikely benign
LOC130006864, LOC130006865
+763 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+635 more
Copy number gain
See cases
GPathogenic
LOC130006895, LOC130006896
+355 more
Copy number gain
See cases
GPathogenic
LOC128772366, LOC128772367
+764 more
Copy number gain
See cases
GPathogenic
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