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Items: 1 to 100 of 126

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130000015, LOC130000016
+3658 more
Copy number gain
See cases
GPathogenic
DEFA1B, DEFA3
+3658 more
Copy number gain
See cases
GPathogenic
LOC110121192, LOC110121196
+3656 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3652 more
Copy number gain
See cases
GPathogenic
LOC130000067, LOC130000068
+3656 more
Copy number gain
See cases
GPathogenic
GPAT4, GPAT4-AS1
+3106 more
Copy number gain
See cases
GPathogenic
LOC130000227, LOC130000228
+541 more
Copy number gain
See cases
GPathogenic
LOC130000405, LOC130000406
+489 more
Copy number gain
See cases
GPathogenic
LOC130000897, LOC130000898
+1960 more
Copy number gain
See cases
GPathogenic
ALKAL1, CEBPD
+90 more
Copy number gain
See cases
GUncertain significance
ALKAL1, ATP6V1H
+173 more
Copy number loss
See cases
GPathogenic
ALKAL1, LOC108281129
+17 more
Copy number gain
See cases
GLikely benign
ALKAL1, LOC108281129
+13 more
Copy number gain
See cases
GLikely benign
ALKAL1, LOC108281129
+13 more
Copy number gain
See cases
GUncertain significance
ALKAL1, LOC108281129
+3 more
Duplication
Schizophrenia
GLikely pathogenic
ALKAL1, LOC108281129
+3 more
Duplication
Schizophrenia
GLikely pathogenic
ALKAL1, LOC126860387
+10 more
Duplication
Autism
GLikely pathogenic
ALKAL1, LOC126860387
+10 more
Copy number gain
See cases
GUncertain significance
ALKAL1, LOC126860387
+9 more
Copy number gain
See cases
GLikely benign
ALKAL1, LOC126860387
+4 more
Duplication
Schizophrenia
GLikely pathogenic
ALKAL1, LOC126860387
+10 more
Duplication
Schizophrenia
GLikely pathogenic
ALKAL1, LOC126860388
+9 more
Copy number gain
See cases
GUncertain significance
ALKAL1, LOC126860388
+9 more
Duplication
Autism
GLikely pathogenic
RB1CC1
Deletion
Breast adenocarcinoma
GPathogenic
RB1CC1
(V1585I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
Deletion
Breast adenocarcinoma
GPathogenic
RB1CC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RB1CC1
(S1490L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RB1CC1
(L1452F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(M1451V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
RB1CC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RB1CC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RB1CC1
(N1345S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(M1341T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(N1314K)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
RB1CC1
(S1284F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RB1CC1
(K1250T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(N1235fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
RB1CC1
(R1216K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
RB1CC1
(E1206K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(Q1201E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(D1195Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(E1169D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(N1163K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(E1116K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RB1CC1
(K1049E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(E1045K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(E1034A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
RB1CC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RB1CC1
(K896R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(G880R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(E849G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(L798F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(Q797L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(E786D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(P748S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(I741V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RB1CC1
(P668S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(N617H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(D604N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(R568*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
GLikely pathogenic
RB1CC1
(R474H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(C456G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RB1CC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
RB1CC1
Single nucleotide variant
(intron variant)
not provided
GBenign
RB1CC1
(S333G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(I294T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(T293A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
RB1CC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RB1CC1
(N251K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RB1CC1
(P244S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(T238I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(E233Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(C207G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(Y126H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RB1CC1
(A55V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
RB1CC1
Single nucleotide variant
(intron variant)
not provided
GBenign
RB1CC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LINC02984, LOC105375836
+19 more
Duplication
Schizophrenia
GLikely pathogenic
LOC126860388, LOC130000363
+6 more
Duplication
Schizophrenia
GLikely pathogenic
RB1CC1
Copy number loss
not provided
GUncertain significance
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
ALKAL1, NPBWR1
+1 more
Copy number gain
not specified
GUncertain significance
ALKAL1, ATP6V1H
+8 more
Copy number gain
not provided
GUncertain significance
RB1CC1, NPBWR1
+1 more
Copy number gain
not provided
GUncertain significance
ALKAL1, RB1CC1
Copy number gain
not provided
GUncertain significance
ALKAL1, RB1CC1
Copy number gain
not provided
GUncertain significance
ALKAL1, RB1CC1
Copy number gain
not provided
GUncertain significance
ALKAL1, RB1CC1
+1 more
Copy number gain
not provided
GUncertain significance
ALKAL1, RB1CC1
+1 more
Copy number gain
not provided
GUncertain significance
RB1CC1
Copy number gain
not provided
GUncertain significance
ALKAL1, RB1CC1
Copy number gain
not provided
GUncertain significance
MICU3, MIR1234
+665 more
Copy number gain
not provided
GPathogenic
VPS13B, VPS28
+474 more
Copy number gain
not provided
GPathogenic
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