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Items: 1 to 100 of 126

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
+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
LOC110121069, LOC110121110
+557 more
Copy number loss
See cases
GPathogenic
ACAP2, APOD
+411 more
Copy number gain
See cases
GPathogenic
ACAP2, APOD
+375 more
Copy number gain
See cases
GPathogenic
ACAP2, APOD
+337 more
Copy number gain
See cases
GPathogenic
ACAP2, APOD
+313 more
Copy number gain
See cases
GPathogenic
SENP5, XXYLT1
+273 more
Copy number gain
See cases
GPathogenic
ACAP2, APOD
+239 more
Copy number loss
See cases
GPathogenic
ACAP2, APOD
+264 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+169 more
Copy number gain
See cases
GPathogenic
MELTF-AS1, MIR4797
+166 more
Copy number gain
See cases
GUncertain significance
BDH1, CEP19
+133 more
Copy number gain
See cases
GPathogenic
LOC129938261, LOC129938262
+114 more
Deletion
Chromosome 3q29 microdeletion syndrome
GPathogenic
BDH1, CEP19
+155 more
Copy number gain
See cases
GUncertain significance
DYNLT2B, LINC00885
+41 more
Copy number gain
See cases
GUncertain significance
LOC123464499, LOC123464500
+114 more
Duplication
Autism
GLikely pathogenic
FBXO45, LOC129938278
+113 more
Copy number loss
See cases
GPathogenic
BDH1, CEP19
+111 more
Copy number loss
See cases
GPathogenic
BDH1, CEP19
+110 more
Copy number gain
See cases
GUncertain significance
BDH1, CEP19
+109 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+113 more
Copy number gain
See cases
GPathogenic
LOC112935924, LOC115995537
+109 more
Copy number loss
See cases
GPathogenic
BDH1, CEP19
+110 more
Copy number loss
See cases
GPathogenic
BDH1, CEP19
+108 more
Deletion
Schizophrenia
GPathogenic
BDH1, CEP19
+111 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+108 more
Copy number gain
See cases
Gconflicting data from submitters
BDH1, CEP19
+107 more
Copy number gain
See cases
GPathogenic
LINC00885, LOC126806932
+107 more
Copy number loss
See cases
GPathogenic
BDH1, CEP19
+107 more
Copy number loss
See cases
GPathogenic
BDH1, CEP19
+107 more
Copy number loss
See cases
GPathogenic
CEP19, DLG1
+102 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+107 more
Copy number loss
See cases
GPathogenic
LOC105374308, LOC126806932
+107 more
Copy number loss
See cases
GPathogenic
BDH1, CEP19
+111 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+107 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+107 more
Copy number loss
See cases
GPathogenic
BDH1, CEP19
+111 more
Copy number loss
See cases
GPathogenic
CEP19, DLG1
+89 more
Copy number loss
See cases
GPathogenic
CEP19, DLG1
+85 more
Deletion
Schizophrenia
GPathogenic
SLC51A
(P3R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC51A
(R5S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC51A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC51A
(L51I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SLC51A
(V73I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC51A
(R86P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC51A
(W90S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC51A
(E116D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC51A
(V125M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC51A
Single nucleotide variant
(synonymous variant)
SLC51A-related condition
GUncertain significance
SLC51A
(R146K)
Single nucleotide variant
(missense variant)
Cholestasis, progressive familial intrahepatic, 6
GUncertain significance
SLC51A
(R169Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC51A
Single nucleotide variant
(nonsense)
Cholestasis, progressive familial intrahepatic, 6
GPathogenic
SLC51A
(A188T)
Single nucleotide variant
(missense variant)
SLC51A-related condition
GUncertain significance
SLC51A
(L196V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC51A
(F224C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC51A
(L338V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCC5, ABCF3
+145 more
Duplication
not provided
GPathogenic
AADAC, AADACL2
+286 more
Duplication
not provided
GPathogenic
PIGX, SENP5
+26 more
Duplication
not provided
GUncertain significance
TFRC, PCYT1A
+2 more
Copy number gain
not provided
GUncertain significance
CEP19, DYNLT2B
+13 more
Copy number loss
not provided
GUncertain significance
BDH1, CEP19
+19 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
BDH1, CEP19
+19 more
Copy number loss
Chromosome 3q29 microdeletion syndrome
GPathogenic
CEP19, DLG1
+17 more
Copy number loss
not provided
GPathogenic
ACAP2, APOD
+35 more
Copy number gain
Chromosome 3q29 microdeletion syndrome
GUncertain significance
ACAP2, APOD
+48 more
Copy number loss
not provided
GPathogenic
OPA1, OSTN
+56 more
Copy number loss
3q28q29 deletion syndrome
GPathogenic
BDH1, CEP19
+19 more
Copy number gain
See cases
Grisk factor
CEP19, DYNLT2B
+11 more
Duplication
not provided
GUncertain significance
PIGX, PIGZ
+24 more
Copy number gain
Delayed speech and language development
+1 more
GPathogenic
SENP5, SLC51A
+19 more
Copy number gain
Motor delay
+1 more
GPathogenic
ACAP2, APOD
+15 more
Copy number loss
not provided
GUncertain significance
DLG1, PPP1R2
+33 more
Copy number gain
not provided
GPathogenic
DYNLT2B, PCYT1A
+1 more
Duplication
not provided
GUncertain significance
BDH1, WDR53
+19 more
Copy number loss
See cases
GPathogenic
UBXN7, ZDHHC19
+9 more
Copy number gain
not provided
GUncertain significance
DYNLT2B, PCYT1A
+5 more
Copy number gain
not provided
GUncertain significance
DYNLT2B, PCYT1A
+7 more
Copy number gain
not provided
GUncertain significance
BDH1, CEP19
+19 more
Copy number gain
not provided
GPathogenic
APOD, DYNLT2B
+9 more
Copy number gain
not provided
GUncertain significance
BDH1, CEP19
+19 more
Copy number gain
not provided
GPathogenic
GMNC, GP5
+62 more
Copy number gain
See cases
GPathogenic
SLC51A
Copy number loss
not provided
GBenign
TM4SF19, SMCO1
+7 more
Copy number gain
not provided
GBenign
RNF168, PIGX
+19 more
Copy number gain
not provided
GPathogenic
CEP19, BDH1
+19 more
Copy number loss
not provided
GPathogenic
DLG1, SLC51A
+19 more
Copy number gain
not provided
GPathogenic
PYDC2, SENP5
+59 more
Copy number loss
not provided
GPathogenic
TNK2-AS1, TFRC
+77 more
Copy number gain
not provided
GPathogenic
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