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Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYOC, MYOCOS
+540 more
Copy number loss
See cases
GPathogenic
LOC129932082, LOC129932083
+561 more
Copy number loss
See cases
GPathogenic
ABL2, ACBD6
+513 more
Copy number gain
See cases
GPathogenic
ABL2, ACBD6
+347 more
Copy number loss
See cases
GPathogenic
MIR488, MR1
+456 more
Copy number loss
See cases
GPathogenic
LOC129932021, LOC129932022
+478 more
Copy number loss
See cases
GPathogenic
APOBEC4, ARPC5
+160 more
Copy number loss
See cases
GPathogenic
C1orf21, C1orf21-DT
+21 more
Copy number gain
See cases
GUncertain significance
COLGALT2, LOC111501763
+10 more
Copy number gain
See cases
GBenign
LOC112577522, TSEN15
Single nucleotide variant
not provided
GBenign
LOC112577522, TSEN15
Single nucleotide variant
not provided
GBenign
LOC112577522, TSEN15
Single nucleotide variant
not provided
GBenign
LOC112577522, TSEN15
Single nucleotide variant
(5 prime UTR variant +1 more)
TSEN15-related disorder
GLikely benign
LOC112577522, TSEN15
(G5S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC112577522, TSEN15
(E8Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC112577522, TSEN15
(T10A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC112577522, TSEN15
(P11T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC112577522, TSEN15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC112577522, TSEN15
(S14G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC112577522, TSEN15
(L16M)
Single nucleotide variant
(missense variant +1 more)
TSEN15-related disorder
GLikely benign
TSEN15
(G19D)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TSEN15
(G23R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TSEN15
(D26Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TSEN15
(G29R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TSEN15
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
TSEN15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TSEN15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TSEN15
(M49T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TSEN15
(Q59H)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TSEN15
Single nucleotide variant
(synonymous variant +1 more)
TSEN15-related disorder
GLikely benign
TSEN15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TSEN15
Single nucleotide variant
(intron variant)
not provided
GBenign
TSEN15
(W76G)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia, type 2F
GUncertain significance
TSEN15
(C81R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TSEN15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TSEN15
(G101A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TSEN15
(H116Y)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia, type 2F
GLikely pathogenic
TSEN15
Single nucleotide variant
(intron variant)
not provided
GBenign
TSEN15
Deletion
(intron variant)
not provided
GBenign
TSEN15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TSEN15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TSEN15
(R127Q)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
TSEN15
(M137I)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
TSEN15
(I150V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
TSEN15
(Y152C)
Single nucleotide variant
(missense variant +2 more)
Pontocerebellar hypoplasia, type 2F
GPathogenic
TSEN15
(D163E)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
TSEN15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TSEN15
Duplication
(intron variant)
not provided
GBenign
TSEN15
Single nucleotide variant
(intron variant)
not provided
GBenign
TSEN15
Duplication
(intron variant)
not provided
GBenign
TSEN15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TSEN15
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GBenign
ABL2, ACBD6
+123 more
Copy number loss
not specified
GPathogenic
ASPM, IPO9
+211 more
Copy number gain
not provided
GPathogenic
ACBD6, APOBEC4
+48 more
Copy number loss
not provided
GPathogenic
ACBD6, APOBEC4
+98 more
Copy number loss
not specified
GPathogenic
ABL2, ACBD6
+82 more
Copy number loss
not specified
GPathogenic
BRINP2, BRINP3
+101 more
Copy number loss
not specified
GPathogenic
ABL2, ACBD6
+56 more
Copy number loss
not provided
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
TSEN15, COLGALT2
Copy number gain
not provided
GUncertain significance
ABL2, ACBD6
+88 more
Copy number loss
not provided
GPathogenic
C4BPB, CACNA1S
+433 more
Copy number gain
not provided
GPathogenic
COLGALT2, RGL1
+1 more
Copy number gain
not provided
GUncertain significance
ABL2, ACBD6
+71 more
Copy number gain
See cases
GLikely pathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
DENND1B, DHX9
+83 more
Copy number loss
See cases
GPathogenic
SUCO, TADA1
+147 more
Copy number loss
See cases
GPathogenic
COLGALT2, LAMC1
+35 more
Copy number loss
See cases
GPathogenic
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