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Links from Gene

Items: 1 to 100 of 111

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACHD1
(S306T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(S625G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(T115A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(A762V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(Y99F)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(D216N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(G236R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(S656N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(N407S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AK4, ALG6
+32 more
Duplication
PGM1-congenital disorder of glycosylation
GUncertain significance
CACHD1
(A360V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(Q26R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(I78V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(M297V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(V273I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(T242I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(R205Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(S1189P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(R844H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(R1124Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(P851L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
CACHD1
(A486T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(P399L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(R335Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(P236L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(N97S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(D163V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(Y440H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(A119D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(D399V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALG6, CACHD1
+5 more
Copy number loss
not specified
GPathogenic
ALG6, ANGPTL3
+16 more
Copy number loss
not specified
GPathogenic
CACHD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CACHD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CACHD1
(S238A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(I607V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(S1125N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(R154Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(I563V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(T115M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(T130A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(P939L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(T1191A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(Q830H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(A1170T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(I437V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(E701K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(D855H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(S1093R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(K332Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(H585N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AK4, ALG6
+32 more
Deletion
not provided
GPathogenic
CACHD1
(A1113V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(R1183C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(V62F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(G1219W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(H1177R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(A909V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CACHD1
(I540V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(E60G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(V443I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(R1249Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(R550Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(S596I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(D547N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(S894C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(R878G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(C961S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(T477A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(M747I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(T157A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(A50S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(V73I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(E383Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(L769M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(V156I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(R446Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(C1106G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(T302I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(V524A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(D718H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACHD1
(I125T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CACHD1
(Q1236R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SGIP1, SLC35D1
+23 more
Copy number gain
not specified
GUncertain significance
ATG4C, MRPL37
+67 more
Copy number loss
Chromosome 1p32-p31 deletion syndrome
GPathogenic
CACHD1
(D463N +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
ROR1, RPE65
+53 more
Deletion
Intellectual disability, severe
GPathogenic
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
CACHD1
Single nucleotide variant
(intron variant)
not provided
Gnot provided
SGIP1, JAK1
+12 more
Copy number loss
not provided
GUncertain significance
CACHD1
Copy number gain
not provided
GLikely benign
CACHD1, ANGPTL3
+12 more
Copy number loss
not provided
GUncertain significance
KANK4, EFCAB7
+16 more
Copy number gain
not provided
GUncertain significance
AK4, ALG6
+46 more
Copy number gain
not provided
GPathogenic
ACADM, ADGRL2
+94 more
Copy number loss
See cases
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ACADM, ADGRL4
+78 more
Copy number loss
See cases
GPathogenic
CACHD1
(R98H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
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