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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC122149328, LOC122149329
+540 more
Copy number loss
See cases
GPathogenic
IER5, IVNS1ABP
+560 more
Copy number loss
See cases
GPathogenic
ACBD6, ANGPTL1
+513 more
Copy number gain
See cases
GPathogenic
ABL2, ACBD6
+347 more
Copy number loss
See cases
GPathogenic
LOC126805952, LOC126805953
+455 more
Copy number loss
See cases
GPathogenic
LOC129388668, LOC129388669
+477 more
Copy number loss
See cases
GPathogenic
APOBEC4, ARPC5
+160 more
Copy number loss
See cases
GPathogenic
C1orf21, C1orf21-DT
+37 more
Copy number loss
See cases
GUncertain significance
C1orf21, C1orf21-DT
+46 more
Copy number loss
See cases
GUncertain significance
GS1-204I12.4, HMCN1
+44 more
Copy number loss
See cases
GPathogenic
IVNS1ABP
(T637fs)
Deletion
(frameshift variant)
Immunodeficiency 70
GUncertain significance
IVNS1ABP
(T637I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IVNS1ABP
(W633*)
Single nucleotide variant
(nonsense)
Immunodeficiency 70
GPathogenic
IVNS1ABP
(G559R)
Single nucleotide variant
(missense variant)
IVNS1ABP-related condition
GUncertain significance
IVNS1ABP
(I467V)
Single nucleotide variant
(missense variant)
IVNS1ABP-related condition
GUncertain significance
IVNS1ABP
(R453C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IVNS1ABP
(D442Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IVNS1ABP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IVNS1ABP
(H426Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IVNS1ABP
(R358*)
Single nucleotide variant
(nonsense)
Immunodeficiency 70
GPathogenic
IVNS1ABP
(F312L)
Single nucleotide variant
(missense variant)
IVNS1ABP-related condition
GUncertain significance
IVNS1ABP
Single nucleotide variant
(intron variant)
not provided
GBenign
IVNS1ABP
(V292I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
IVNS1ABP
(R204C)
Single nucleotide variant
(missense variant)
Immunodeficiency 70
GUncertain significance
IVNS1ABP
(V202G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IVNS1ABP
(N185H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IVNS1ABP
(S127P)
Single nucleotide variant
(missense variant)
IVNS1ABP-related condition
GUncertain significance
IVNS1ABP
Duplication
(intron variant)
IVNS1ABP-related condition
GLikely benign
IVNS1ABP
Single nucleotide variant
(intron variant)
IVNS1ABP-related condition
GLikely benign
IVNS1ABP
Single nucleotide variant
(synonymous variant)
IVNS1ABP-related condition
GLikely benign
IVNS1ABP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IVNS1ABP
(P67T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABL2, ACBD6
+123 more
Copy number loss
not specified
GPathogenic
IGFN1, IKBKE
+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
KLHL12, LNCATV
+956 more
Duplication
Paragangliomas 3
+2 more
GUncertain significance
IVNS1ABP
Deletion
Immunodeficiency 70
GPathogenic
ABL2, ACBD6
+88 more
Copy number loss
not provided
GPathogenic
CAPN9, CATSPERE
+433 more
Copy number gain
not provided
GPathogenic
PADI1, PADI2
+2014 more
Copy number gain
See cases
GPathogenic
NID1, NIPAL3
+2014 more
Copy number gain
See cases
GPathogenic
NIBAN1, NMNAT2
+83 more
Copy number loss
See cases
GPathogenic
COLGALT2, LAMC1
+35 more
Copy number loss
See cases
GPathogenic
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