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Links from Gene

Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMGN1
(A22G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMGN1
(A88P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMGN1
(P28S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCG1, ADAMTS1
+216 more
Copy number gain
not provided
GPathogenic
HMGN1
(S21W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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
+92 more
Copy number loss
not provided
GPathogenic
ABCG1, ADARB1
+148 more
Copy number gain
not provided
GPathogenic
CLDN14, CLDN17
+170 more
Copy number gain
not provided
GPathogenic
HMGN1
(E91G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMGN1
(E64K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMGN1
(V65M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMGN1
(E72K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B3GALT5, BRWD1
+8 more
Copy number gain
not provided
GUncertain significance
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
BRWD1, ERG
+7 more
Copy number loss
not provided
GUncertain significance
ABCG1, ADAMTS1
+217 more
Copy number gain
not provided
GPathogenic
COL6A2, KRTAP20-3
+220 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
See cases
GPathogenic
PSMG1, ERG
+12 more
Copy number loss
not provided
GUncertain significance
CRYAA, GET1
+44 more
Copy number loss
not provided
GPathogenic
HMGN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BRWD1, ETS2
+6 more
Copy number gain
not provided
GUncertain significance
ATP5PF, IL10RB
+217 more
Copy number gain
not provided
GPathogenic
ATP5PO, B3GALT5
+56 more
Copy number gain
not provided
GPathogenic
LCA5L, SH3BGR
+9 more
Copy number loss
not provided
GUncertain significance
FAM3B, GET1
+85 more
Deletion
Autism
GLikely pathogenic
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
ABCG1, ADARB1
+101 more
Copy number loss
See cases
GPathogenic
B3GALT5, BRWD1
+21 more
Copy number loss
See cases
GPathogenic
EVA1C, FAM3B
+217 more
Copy number gain
See cases
GPathogenic
ABCG1, B3GALT5
+28 more
Copy number loss
See cases
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number loss
See cases
GPathogenic
PKNOX1, TMPRSS3
+37 more
Copy number gain
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
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
LOC130066795, LOC130066796
+1156 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+482 more
Copy number loss
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
AATBC, ABCG1
+598 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+516 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
LINC01424, LINC01436
+643 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+568 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
B3GALT5, B3GALT5-AS1
+177 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066759, LOC130066760
+586 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
ABCG1, B3GALT5
+56 more
Copy number loss
See cases
GPathogenic
ABCG1, B3GALT5
+224 more
Copy number loss
See cases
GPathogenic
LOC112694754, LOC114004360
+1159 more
Copy number gain
See cases
GPathogenic
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