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Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LCA5L, LINC00111
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653353, LOC126653354
+1160 more
Copy number gain
See cases
GPathogenic
KRTAP8-1, LCA5L
+1160 more
Copy number gain
See cases
GPathogenic
RNA5-8SN1, RNA5-8SN2
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066804, LOC130066805
+1160 more
Copy number gain
See cases
GUncertain significance
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GPathogenic
SCAF4, SETD4
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653353, LOC126653354
+1159 more
Copy number gain
See cases
GPathogenic
LOC129388418, LOC129391214
+1160 more
Copy number gain
See cases
GPathogenic
KCNJ6, KCNJ6-AS1
+643 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LINC00515, LINC00649
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066731, LOC130066732
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
ETS2-AS1, EVA1C
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066726, LOC130066727
+1159 more
Copy number gain
See cases
GPathogenic
LOC128849172, LOC129388418
+884 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
SLC5A3, SLX9
+1159 more
Copy number gain
See cases
GPathogenic
LINC01425, LINC01426
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066861, LOC130066862
+1155 more
Copy number gain
See cases
GPathogenic
LOC130066468, LOC130066469
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
LOC112694754, LOC114004360
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066795, LOC130066796
+1156 more
Copy number loss
See cases
GPathogenic
ATP5PO, C21orf62
+107 more
Deletion
ZTTK syndrome
GPathogenic
ATP5PO, CRYZL1
+41 more
Copy number loss
See cases
GLikely pathogenic
ATP5PO
(I189V)
Single nucleotide variant
(missense variant)
ATP5PO-related disorder
GLikely benign
ATP5PO
(G184A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP5PO
(L173S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP5PO
(L154V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP5PO
(R136H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP5PO
Single nucleotide variant
(intron variant)
Severe global developmental delay
+3 more
GPathogenic
ATP5PO
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP5PO
(T105I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP5PO
(R85L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP5PO
(P81L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP5PO, LOC126653351
Single nucleotide variant
(intron variant)
Leigh syndrome
+1 more
GPathogenic/Likely pathogenic
ATP5PO, LOC126653351
(A25G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP5PO, LOC126653351
(F24L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP5PO, LOC126653351
(V13A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP5PO, LOC130066573
(Q12*)
Single nucleotide variant
(nonsense)
Severe global developmental delay
+3 more
GPathogenic
ATP5PO, LOC130066573
(S7C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP5PO, LOC130066573
(S7P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP5PO, LOC130066573
(A3S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCG1, ADAMTS1
+216 more
Copy number gain
not provided
GPathogenic
ATP5PO, ITSN1
Copy number loss
not specified
GUncertain significance
ABCG1, ADAMTS1
+216 more
Copy number gain
not specified
GPathogenic
CBR1, CBR3
+139 more
Copy number gain
not specified
GPathogenic
ABCG1, ADAMTS1
+201 more
Copy number gain
not specified
GPathogenic
ABCG1, ADARB1
+186 more
Copy number gain
not specified
GPathogenic
ABCG1, ADARB1
+148 more
Copy number gain
not provided
GPathogenic
CLDN14, CLDN17
+170 more
Copy number gain
not provided
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
Down syndrome
GPathogenic
KRTAP20-1, KRTAP20-2
+91 more
Copy number gain
not specified
GPathogenic
KRTAP20-4, KRTAP21-1
+77 more
Copy number loss
not specified
GUncertain significance
ADAMTS1, ADAMTS5
+216 more
Copy number gain
not specified
GPathogenic
KCNJ15, N6AMT1
+216 more
Copy number gain
not specified
GPathogenic
CHAF1B, IFNGR2
+48 more
Duplication
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
+3 more
GUncertain significance
ABCG1, ADAMTS1
+217 more
Copy number gain
not provided
GPathogenic
COL6A2, KRTAP20-3
+220 more
Copy number gain
See cases
GPathogenic
ATP5PO, CFAP298
+33 more
Duplication
Early-onset Parkinson disease 20
+1 more
GUncertain significance
ABCG1, ADAMTS1
+217 more
Copy number gain
See cases
GPathogenic
ATP5PO, CRYZL1
+14 more
Copy number loss
not provided
GPathogenic
CFAP298, ATP5PO
+28 more
Copy number loss
21q22.11q22.12 microdeletion syndrome
GPathogenic
ATP5PF, IL10RB
+217 more
Copy number gain
not provided
GPathogenic
ATP5PO, C21orf62
+25 more
Copy number loss
not provided
GPathogenic
ATP5PO, CRYZL1
+16 more
Copy number loss
not provided
Gnot provided
ATP5PO, B3GALT5
+56 more
Copy number gain
not provided
GPathogenic
ATP5PO, ITSN1
Copy number gain
not provided
GLikely benign
ABCG1, ADAMTS1
+217 more
Copy number gain
See cases
GPathogenic
ATP5PO, ITSN1
Copy number gain
See cases
GUncertain significance
EVA1C, FAM3B
+217 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number loss
See cases
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number gain
See cases
GPathogenic
ATP5PO, BACH1
+75 more
Copy number loss
See cases
GPathogenic
ATP5PO, CLIC6
+8 more
Copy number gain
See cases
GPathogenic
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