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Links from Gene

Items: 1 to 100 of 131

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IRS1
(A1032T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R600H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R54W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(G894E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(K943R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(N178K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(G1129D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R1074W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R580H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IRS1
(S428L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(P591H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAMP, ABCB6
+218 more
Copy number gain
See cases
GPathogenic
IRS1
(N275T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(F220Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1, LOC129935722
(R20L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R116C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(G1126R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(V1117G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(P1108A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(E102D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(A1007T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(D1003A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(P893L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(Q835L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(D755Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(G596W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(T477I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(H371N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(Y695F)
Single nucleotide variant
(missense variant)
IRS1-related disorder
GBenign
IRS1
Microsatellite
IRS1-related disorder
GBenign
IRS1
Single nucleotide variant
(synonymous variant)
IRS1-related disorder
GLikely benign
IRS1
Single nucleotide variant
(synonymous variant)
IRS1-related disorder
GLikely benign
ACKR3, AGAP1
+79 more
Copy number gain
not provided
GPathogenic
AAMP, ABCB6
+208 more
Copy number gain
not provided
GPathogenic
IRS1
(G597E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
IRS1
(G1212D)
Single nucleotide variant
(missense variant)
IRS1-related disorder
GUncertain significance
IRS1
(R600S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R790G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(A96P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R1081C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(M468V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R854C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(P1044L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(G451D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(E961K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R410Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(Q850R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(M260L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R373H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(P4S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(A59S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(E553Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(A1121V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R1096G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(S1057L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGFG1, C2orf83
+7 more
Duplication
not provided
GUncertain significance
IRS1
(S1005L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R1089C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(S307G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R373C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(G1122V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(P65H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(P1027S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(N290S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(S636N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R785Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(P292S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(P643L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R790H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(A259T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(G947R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(H788Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(P887R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(I280V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(S721T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(E37D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(G1214R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(R980Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(I308S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(S581F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(G1172V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRS1
(Q1235R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ACSL3, AGFG1
+40 more
Copy number loss
not specified
GPathogenic
FBXO36, UGT1A5
+147 more
Copy number loss
not specified
GPathogenic
COL4A3, COL4A4
+2 more
Deletion
not provided
GPathogenic
COL4A4, IRS1
+1 more
Deletion
not provided
GPathogenic
COL4A3, COL4A4
+2 more
Duplication
not provided
GUncertain significance
IRS1
(E1136K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
SPHKAP, MFF
+11 more
Copy number loss
not provided
GLikely pathogenic
IRS1
(W53*)
Single nucleotide variant
(nonsense)
Wooly hair, autosomal recessive 3
+2 more
GLikely pathogenic
IRS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IRS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IRS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IRS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IRS1
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+1 more
GBenign/Likely benign
IRS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IRS1
(D1137N)
Single nucleotide variant
(missense variant)
not provided
GBenign
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