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Links from Gene

Items: 1 to 100 of 103

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MRC2
(T256A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(P1052R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(G270R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(I1023V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(F1032S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(A858S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(G1355E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(P1017L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(Q217K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(A1269V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(G220D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R1444H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R1444C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(M1282V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(S1256N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R1177L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(A1158T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MRC2
(R114Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(G1127S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(P1075T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(G938R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(I852L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(G755V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(Q741R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(N728H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(S71R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(D693Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(T653M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R639W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R608W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(T526K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(I503M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(I429L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R401C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(K379Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACE, APPBP2
+43 more
Copy number gain
See cases
GUncertain significance
MRC2
(R224H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(A1069S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(A622S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MARCHF10, MRC2
+1 more
Copy number loss
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
MRC2
(R1156C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(T1102I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(S258L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(P654L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(H1258P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(T1236A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(P1214L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(G220S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(P144L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(E718Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(T662M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(L211V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(P1203A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(S1455N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(V619M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(V816M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130061372, MRC2
(L22F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R547C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R994W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R680W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(N981H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R1177Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(S675L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R1145H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R137C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R1292Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(N588T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R641C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(P1251L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(H552Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(P1217S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(A1069P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(A620V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(S597G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(A626S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(S203T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R690W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(T1111M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(Q512H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(K185E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(S155G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R645Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(T277M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(R137H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(P487L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRC2
(S324R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MARCHF10, MRC2
Copy number loss
not provided
GUncertain significance
MRC2, TLK2
Deletion
Intellectual disability, autosomal dominant 57
GLikely pathogenic
MRC2
(A1431T)
Single nucleotide variant
(missense variant)
not provided
GBenign
MRC2
(S155T)
Single nucleotide variant
(missense variant)
not provided
GBenign
MRC2
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCA6, ABCA8
+79 more
Copy number gain
not provided
GPathogenic
ACE, AMZ2
+77 more
Copy number gain
not provided
GPathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
MRC2, TLK2
Copy number loss
See cases
GLikely benign
TANC2, DDX42
+66 more
Copy number gain
See cases
GPathogenic
EFCAB3, LOC105371855
+27 more
Copy number gain
See cases
GLikely pathogenic
BRIP1, EFCAB3
+39 more
Copy number loss
See cases
GLikely pathogenic
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