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Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BPESC1, BTLA
+2645 more
Copy number gain
See cases
GPathogenic
BDH1, C3orf33
+1449 more
Copy number gain
See cases
GPathogenic
LINC00578, LINC00880
+1317 more
Copy number gain
See cases
GPathogenic
PAK2, PARL
+1246 more
Copy number gain
See cases
GPathogenic
LOC129937828, LOC129937829
+1244 more
Copy number gain
See cases
GPathogenic
LOC129938023, LOC129938024
+1200 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1064 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
ABCC5, ABCC5-AS1
+1041 more
Copy number gain
See cases
GPathogenic
ALG3, AP2M1
+867 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+866 more
Copy number gain
See cases
GPathogenic
ALG3, AP2M1
+280 more
Duplication
Currarino triad
GLikely pathogenic
LOC129938004, LOC129938005
+399 more
Copy number loss
See cases
GPathogenic
ABCC5, ABCC5-AS1
+205 more
Copy number loss
See cases
GLikely pathogenic
ABCC5, ABCC5-AS1
+126 more
Copy number loss
See cases
GLikely pathogenic
ADIPOQ, ADIPOQ-AS1
+131 more
Copy number gain
See cases
GPathogenic
LOC110121069, LOC110121110
+557 more
Copy number loss
See cases
GPathogenic
IGF2BP2, IGF2BP2-AS1
+15 more
Copy number loss
See cases
GPathogenic
IGF2BP2
(R437C +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IGF2BP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2BP2
(T300S +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IGF2BP2
(S360F +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IGF2BP2
(A331V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IGF2BP2
(R325C +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IGF2BP2, LOC126806896
(R177Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IGF2BP2, LOC126806896
(P106L +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IGF2BP2, LOC126806896
(Y148H +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IGF2BP2
(V65I +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
IGF2BP2
Single nucleotide variant
(intron variant)
Diabetes mellitus type 2, susceptibility to
Grisk factor
IGF2BP2
(A16T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ABCC5, ABCF3
+47 more
Copy number loss
not specified
GPathogenic
ABCF3, ALG3
+26 more
Copy number gain
not specified
GUncertain significance
ABCC5, ABCF3
+145 more
Duplication
not provided
GPathogenic
AADAC, AADACL2
+286 more
Duplication
not provided
GPathogenic
ADIPOQ, AHSG
+32 more
Copy number loss
not provided
GLikely pathogenic
DCUN1D1, ALG3
+41 more
Copy number loss
not provided
GPathogenic
CCDC50, MELTF
+155 more
Copy number gain
Isolated anorectal malformation
GLikely pathogenic
ABCC5, ABCF3
+118 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCF3
+53 more
Copy number loss
Short stature
GPathogenic
IGF2BP2, LIPH
+4 more
Copy number gain
not specified
GUncertain significance
ABCC5, ABCF3
+49 more
Copy number loss
not specified
GPathogenic
ABCC5, ABCF3
+59 more
Copy number loss
not specified
GPathogenic
ABCC5, ABCF3
+82 more
Copy number gain
not provided
GPathogenic
CLCN2, YEATS2
+52 more
Copy number loss
not provided
GPathogenic
LIPH, EHHADH
+6 more
Copy number gain
not provided
GUncertain significance
DVL3, ALG3
+28 more
Copy number loss
not provided
GLikely pathogenic
FXR1, HTR3D
+113 more
Copy number gain
not provided
GPathogenic
LIPH, SENP2
+3 more
Copy number gain
not provided
GUncertain significance
FYTTD1, FAM43A
+103 more
Copy number gain
not provided
GPathogenic
KNG1, FETUB
+75 more
Copy number loss
not provided
GPathogenic
PPP1R2, TBCCD1
+126 more
Copy number gain
not provided
GPathogenic
FETUB, HRG
+32 more
Copy number loss
Cognitive impairment
+1 more
GPathogenic
FBXL2, FBXO40
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ADIPOQ, AHSG
+14 more
Copy number loss
See cases
GPathogenic
ABCC5, ABCF3
+198 more
Copy number gain
See cases
GPathogenic
PTX3, MIR1224
+220 more
Copy number gain
See cases
GPathogenic
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