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Links from Gene

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACSF2, CHAD
(P145L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KIF18B, LPO
+196 more
Deletion
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
SLC4A1, DCAKD
+422 more
Copy number loss
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
ACSF2, CHAD
(R72Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACSF2, CHAD
(R344H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABI3, CACNA1G
+45 more
Deletion
Tricho-dento-osseous syndrome
+1 more
GPathogenic
ACSF2, CHAD
(Q25H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACSF2, CHAD
(R313W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACSF2, CHAD
(A73D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACSF2, CHAD
(K158E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ACSF2, CHAD
(S208F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACSF2, CHAD
(D120E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACSF2, CHAD
(R163H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACSF2, CHAD
(R344C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACSF2, CHAD
(A198T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACSF2, CHAD
(G266S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACSF2, CHAD
(D39N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACSF2, CHAD
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ACSF2, CHAD
(T350I)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ACSF2, CHAD
(Q25K)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CHAD, ACSF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ACSF2, CHAD
(L191V)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
HOXB3, HOXB4
+67 more
Copy number loss
not provided
GLikely pathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
ABCC3, ACSF2
+196 more
Copy number loss
See cases
GPathogenic
ABCC3, ABI3
+203 more
Copy number loss
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
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