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Items: 96

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
LINC01424, LINC01436
+643 more
Copy number loss
See cases
GPathogenic
B3GALT5, B3GALT5-AS1
+177 more
Copy number loss
See cases
GPathogenic
CBR1, CBR1-AS1
+110 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+598 more
Copy number gain
See cases
GPathogenic
LOC130066759, LOC130066760
+586 more
Copy number gain
See cases
GPathogenic
CHAF1B, CLDN14
+99 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+568 more
Copy number gain
See cases
GPathogenic
DSCR9, DYRK1A
+34 more
Copy number gain
See cases
GPathogenic
DSCR9, LOC111556145
+19 more
Copy number loss
See cases
GLikely benign
ABCG1, B3GALT5
+224 more
Copy number loss
See cases
GPathogenic
VPS26C
(V152M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VPS26C
(V145M +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
VPS26C
(D114N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VPS26C
(I110V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VPS26C
(R227H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VPS26C
(G172E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VPS26C
(R188H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VPS26C
(V84M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VPS26C
(T163M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VPS26C
(R131Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VPS26C
(T33M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VPS26C
(P127A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VPS26C
(R126W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VPS26C
(I24V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VPS26C
(I23T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VPS26C
(Q70H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VPS26C
(I21M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VPS26C
(V66I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VPS26C
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
VPS26C
(S29L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VPS26C
(I28V)
Single nucleotide variant
(missense variant +1 more)
VPS26C-related disorder
GLikely benign
VPS26C
(V25A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VPS26C
(V25M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VPS26C
(A4D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VPS26C
(G2E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBR1, CBR3
+12 more
Duplication
DYRK1A-related intellectual disability syndrome
GUncertain significance
ABCG1, ADAMTS1
+216 more
Copy number gain
not provided
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number gain
not specified
GPathogenic
CBR1, CBR3
+139 more
Copy number gain
not specified
GPathogenic
KCNJ15, KCNJ6
+118 more
Copy number loss
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
DYRK1A, HLCS
+4 more
Copy number gain
not provided
GUncertain significance
ABCG1, ADAMTS1
+217 more
Copy number gain
Down syndrome
GPathogenic
KRTAP20-1, KRTAP20-2
+91 more
Copy number gain
not specified
GPathogenic
ADAMTS1, ADAMTS5
+216 more
Copy number gain
not specified
GPathogenic
KCNJ15, N6AMT1
+216 more
Copy number gain
not specified
GPathogenic
CBR3, CHAF1B
+11 more
Duplication
not provided
GUncertain significance
ATP5PO, CBR1
+48 more
Duplication
Immunodeficiency 28
+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
CLDN14, DYRK1A
+7 more
Duplication
DYRK1A-related intellectual disability syndrome
GUncertain significance
ABCG1, ADAMTS1
+217 more
Copy number gain
See cases
GPathogenic
ATP5PF, IL10RB
+217 more
Copy number gain
not provided
GPathogenic
ATP5PO, B3GALT5
+56 more
Copy number gain
not provided
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
See cases
GPathogenic
ABCG1, ADARB1
+108 more
Copy number loss
See cases
GPathogenic
B3GALT5, BRWD1
+30 more
Copy number gain
See cases
GLikely pathogenic
B3GALT5, BRWD1
+21 more
Copy number loss
See cases
GPathogenic
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
ERG, ETS2
+23 more
Copy number loss
DYRK1A-related intellectual disability syndrome
GPathogenic
DSCR4, DSCR8
+10 more
Deletion
Absent or delayed speech development
+5 more
GPathogenic
ABCG1, B3GALT5
+56 more
Copy number loss
See cases
GPathogenic
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