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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
BCL9L, BLID
+774 more
Copy number gain
See cases
GPathogenic
LOC130006895, LOC130006896
+355 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+769 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
LOC128772366, LOC128772367
+764 more
Copy number gain
See cases
GPathogenic
LOC130006864, LOC130006865
+763 more
Copy number gain
See cases
GPathogenic
LOC130007002, LOC130007003
+499 more
Copy number gain
See cases
GPathogenic
ATP5MG, LOC100131626
(E10A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATP5MG, LOC100131626
(P13L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATP5MG, LOC100131626
(R26L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATP5MG, LOC100131626
(L27M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATP5MG, LOC100131626
(L27S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATP5MG, LOC100131626
(P43H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATP5MG, LOC100131626
(I50T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATP5MG, LOC100131626
(N58S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATP5MG, LOC100131626
(T62S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATP5MG, LOC100131626
(V79M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATP5MG, LOC100131626
(R96W)
Single nucleotide variant
(missense variant +1 more)
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
AASDHPPT, ABCG4
+275 more
Duplication
not provided
GPathogenic
ABCG4, ARCN1
+54 more
Duplication
not provided
GUncertain significance
ABCG4, APOA1
+72 more
Duplication
Immunodeficiency 19
+5 more
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
ARCN1, ATP5MG
+31 more
Duplication
Inflammatory bowel disease 28
+4 more
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
VSIG2, VWA5A
+259 more
Duplication
Distal trisomy 11q
GPathogenic
ARCN1, ATP5MG
+31 more
Deletion
Combined immunodeficiency due to CD3gamma deficiency
+3 more
GPathogenic
APLP2, LINC02873
+169 more
Deletion
Anemia
+7 more
GLikely pathogenic
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
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