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Items: 1 to 100 of 118

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
LOC125418053, LOC125418054
+219 more
Copy number loss
Monosomy 21
GPathogenic
ADAMTS1, ADAMTS5
+256 more
Copy number loss
See cases
GPathogenic
ADAMTS1, ADAMTS5
+214 more
Copy number loss
See cases
GPathogenic
HSPA13, JAM2
+209 more
Copy number loss
Monosomy 21
GPathogenic
ADAMTS1, ADAMTS5
+300 more
Copy number loss
See cases
GPathogenic
LOC130066520, LOC130066521
+213 more
Copy number loss
See cases
GPathogenic
BACH1, BACH1-IT2
+215 more
Copy number loss
Monosomy 21
GPathogenic
ADAMTS1, ADAMTS5
+72 more
Copy number loss
See cases
GLikely pathogenic
JAM2, APP
+41 more
Duplication
Alzheimer disease, early-onset, with cerebral amyloid angiopathy
GPathogenic
JAM2
Single nucleotide variant
not provided
GBenign
JAM2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
JAM2
(M1V)
Single nucleotide variant
(missense variant +2 more)
Basal ganglia calcification, idiopathic, 8, autosomal recessive
GPathogenic
JAM2
(H7Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
JAM2
(G22D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
Single nucleotide variant
(intron variant)
not provided
GBenign
JAM2
(A40V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
JAM2
Deletion
(nonsense +2 more)
Basal ganglia calcification, idiopathic, 8, autosomal recessive
GPathogenic
JAM2
Deletion
(frameshift variant +2 more)
Basal ganglia calcification, idiopathic, 8, autosomal recessive
GPathogenic
JAM2
Single nucleotide variant
(intron variant)
not provided
GBenign
JAM2
Single nucleotide variant
(intron variant)
not provided
GBenign
JAM2
(E52A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
(R72L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
(R108H +1 more)
Single nucleotide variant
(missense variant +1 more)
Basal ganglia calcification, idiopathic, 8, autosomal recessive
GPathogenic
JAM2
Duplication
(splice acceptor variant)
Basal ganglia calcification, idiopathic, 8, autosomal recessive
GPathogenic
JAM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
JAM2
(P142T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
(E123Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
(W168C +1 more)
Single nucleotide variant
(missense variant +1 more)
Basal ganglia calcification, idiopathic, 8, autosomal recessive
GPathogenic
JAM2
(I173T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
(R174H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
(T155I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
JAM2
(R181H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
(N182D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
(R229* +1 more)
Single nucleotide variant
(nonsense +1 more)
JAM2-related disorder
+1 more
GPathogenic
JAM2
(M194I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
Single nucleotide variant
(intron variant)
not provided
GBenign
JAM2
Single nucleotide variant
(intron variant)
not provided
GBenign
JAM2
(L199F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
(V244I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
(V208A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
(V217I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
(G257S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
Single nucleotide variant
(intron variant)
not provided
GBenign
JAM2
Microsatellite
(intron variant)
not provided
GBenign
JAM2
Single nucleotide variant
(intron variant)
not provided
GBenign
JAM2
Insertion
(intron variant)
not provided
GBenign
JAM2
Single nucleotide variant
(intron variant)
not provided
GBenign
JAM2
Single nucleotide variant
(intron variant)
not provided
GBenign
JAM2
(K239E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
(K239M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
JAM2
(S250R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
JAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
JAM2
Single nucleotide variant
(intron variant)
not provided
GBenign
JAM2
Deletion
(intron variant)
not provided
GBenign
JAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
JAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ABCG1, ADAMTS1
+216 more
Copy number gain
not provided
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number gain
not specified
GPathogenic
ABCG1, ADAMTS1
+201 more
Copy number gain
not specified
GPathogenic
ATP5PF, GABPA
+1 more
Copy number loss
not provided
GUncertain significance
ADAMTS1, ADAMTS5
+14 more
Copy number gain
not provided
GPathogenic
N6AMT1, NCAM2
+52 more
Copy number gain
not provided
GPathogenic
CLDN14, CLDN17
+170 more
Copy number gain
not provided
GPathogenic
ADAMTS1, MIR125B2
+23 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
Down syndrome
GPathogenic
ADAMTS1, ADAMTS5
+216 more
Copy number gain
not specified
GPathogenic
KCNJ15, N6AMT1
+216 more
Copy number gain
not specified
GPathogenic
MRPL39, NCAM2
+23 more
Copy number gain
not specified
GPathogenic
APP, ATP5PF
+20 more
Copy number gain
not specified
GPathogenic
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