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Items: 76

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937605, LOC129937606
+484 more
Copy number gain
See cases
GUncertain significance
LOC129937518, LOC129937519
+248 more
Copy number loss
See cases
GLikely pathogenic
A4GNT, ACAD11
+282 more
Copy number loss
See cases
GPathogenic
A4GNT, ACAD11
+345 more
Copy number loss
See cases
GPathogenic
A4GNT, ACAD11
+212 more
Copy number loss
See cases
GPathogenic
ACAD11, NPHP3-ACAD11
(D771N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(R770Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
ACAD11, NPHP3-ACAD11
(E768Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(A765T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(R751H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(T747I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(S694G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(R685C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(K683N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(I679V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(R678C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(A646T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ACAD11, NPHP3-ACAD11
(R627C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(R607Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
ACAD11, NPHP3-ACAD11
(T556A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(I549T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(K546Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, ACKR4
+1 more
(I268T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACAD11, ACKR4
+1 more
(M281V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACAD11, ACKR4
+1 more
(M281T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACAD11, ACKR4
+1 more
(C297R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(K536N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(R525Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(A516V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ACAD11, NPHP3-ACAD11
(M476V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, LOC126806814
+1 more
(T456R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, LOC126806814
+1 more
(V447G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, LOC126806814
+1 more
(V447L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, LOC126806814
+1 more
(V447M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(W415L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(F404L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(K399R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(I384S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(Q380L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(P364S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(L354H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, LOC126806815
+1 more
(L309F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(E278A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(G274S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
ACAD11, NPHP3-ACAD11
(I248T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, LOC129937585
+8 more
Copy number loss
See cases
GUncertain significance
ACAD11, NPHP3-ACAD11
(D211N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(S163P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
Variation
(non-coding transcript variant +1 more)
not provided
GBenign
ACAD11, NPHP3-ACAD11
(Q155R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
ACAD11, NPHP3-ACAD11
(T111N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(I97T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(Y59C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(N55K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
(N55S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
+1 more
(Q17P)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
ACAD11, NPHP3-ACAD11
+1 more
(P16S)
Single nucleotide variant
(5 prime UTR variant +3 more)
not specified
GUncertain significance
ACAD11, NPHP3-ACAD11
+1 more
(E13*)
Single nucleotide variant
(5 prime UTR variant +3 more)
Developmental and epileptic encephalopathy, 44
GPathogenic
ACAD11, NPHP3-ACAD11
+1 more
(D10N)
Single nucleotide variant
(5 prime UTR variant +3 more)
not specified
GLikely benign
ACAD11, ACKR4
+2 more
Copy number gain
not provided
GUncertain significance
ACAD11, ACKR4
+4 more
Copy number gain
not provided
GUncertain significance
A4GNT, AADAC
+303 more
Copy number gain
not provided
GPathogenic
ACAD11, NPHP3
+2 more
Copy number gain
not provided
GUncertain significance
ACAD11, ACKR4
+2 more
Copy number loss
not specified
GUncertain significance
ABTB1, ACAD11
+109 more
Deletion
Alkaptonuria
GPathogenic
ACAD11, ACAD9
+61 more
Deletion
Deafness-lymphedema-leukemia syndrome
+1 more
GPathogenic
ACAD11, NPHP3
+2 more
Copy number gain
not provided
GUncertain significance
ACAD11, NPHP3
+1 more
Deletion
not provided
GPathogenic
ACKR4, DNAJC13
+3 more
Duplication
Nephronophthisis
GUncertain significance
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
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