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Links from Gene

Items: 1 to 100 of 109

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ETS2
(S371R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(R383Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(E233Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2, LOC126653370
(G133S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(M329V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCG1, ADAMTS1
+216 more
Copy number gain
not provided
GPathogenic
ETS2
(M469K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(A283T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(Q234E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(P223L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2, LOC126653370
(C252Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2, LOC126653370
(R235W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(K376R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(T358A +1 more)
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
+148 more
Copy number gain
not provided
GPathogenic
CLDN14, CLDN17
+170 more
Copy number gain
not provided
GPathogenic
ETS2
(D219N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2, LOC126653370
(M219I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(S574L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(H189R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(R165H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(V353M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(V247I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(V229I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(G496S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2, LOC126653370
(R95Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(P327S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(A283V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(E427Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2, LOC126653370
(C206R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(P240S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(M347I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(Y345F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2
(R165C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETS2, LINC00114
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
ERG, ETS2
+1 more
Copy number gain
not provided
GUncertain significance
CRYAA, GET1
+44 more
Copy number loss
not provided
GPathogenic
ETS2, LOC126653370
(A204T +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ETS2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ETS2
(L357I +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ETS2, LOC126653370
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
BRWD1, ETS2
+6 more
Copy number gain
not provided
GUncertain significance
BRWD1, ERG
+3 more
Copy number loss
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
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
LINC00114, DSCR8
+6 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
CHAF1B, CLDN14
+99 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
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