U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 77

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
EDEM3, LOC129388659
+5 more
Copy number loss
See cases
GUncertain significance
EDEM3
(S875Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(D811Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature
GLikely pathogenic
EDEM3
(P746S)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation, type 2v
GBenign
EDEM3
(N691S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(A685T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(A668fs)
Duplication
(frameshift variant +1 more)
Congenital disorder of glycosylation, type 2v
GPathogenic
EDEM3
(R648*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
EDEM3
(I620fs)
Deletion
(frameshift variant +1 more)
Congenital disorder of glycosylation, type 2v
GPathogenic
EDEM3
(I620V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(R579K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
EDEM3
(P574S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
EDEM3
(K573N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type 2v
GUncertain significance
EDEM3
(G560D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(P536R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
Single nucleotide variant
(synonymous variant +1 more)
EDEM3-related condition
GLikely benign
EDEM3
(S514L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(N511S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(S506I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(D479Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(Y469*)
Single nucleotide variant
(nonsense +1 more)
Congenital disorder of glycosylation, type 2v
GPathogenic
EDEM3
(F461fs)
Microsatellite
(frameshift variant +1 more)
Congenital disorder of glycosylation, type 2v
GPathogenic
EDEM3
(R457fs)
Deletion
(frameshift variant +1 more)
Congenital disorder of glycosylation, type 2v
GPathogenic
EDEM3
(D456N)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation, type 2v
GPathogenic
EDEM3
(T451S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(L402V)
Single nucleotide variant
(missense variant +1 more)
Short stature
GLikely pathogenic
EDEM3
(I369V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(R366I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(D364fs)
Deletion
(frameshift variant +1 more)
Congenital disorder of glycosylation, type 2v
GLikely pathogenic
EDEM3
(N316K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(R314*)
Single nucleotide variant
(nonsense +1 more)
Congenital disorder of glycosylation, type 2v
GPathogenic
EDEM3
(G289E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
Single nucleotide variant
(splice donor variant)
Congenital disorder of glycosylation, type 2v
GPathogenic
EDEM3
(I247V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
EDEM3
(G219R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(I211F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(P192L)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
EDEM3
(L190V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(D177E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(R132T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
EDEM3
Single nucleotide variant
(splice donor variant)
EDEM3-related condition
GUncertain significance
EDEM3
(A99T)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation, type 2v
GUncertain significance
EDEM3
(G94S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(D61G)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation, type 2v
GPathogenic
EDEM3, LOC129932108
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
EDEM3, LOC129932108
(E47K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3, LOC129932108
(A41V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(A17G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDEM3
(P12L)
Single nucleotide variant
(missense variant +1 more)
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
EDEM3, NIBAN1
Copy number gain
not provided
GUncertain significance
ABL2, ACBD6
+88 more
Copy number loss
not provided
GPathogenic
CAPN9, CATSPERE
+433 more
Copy number gain
not provided
GPathogenic
ABL2, ACBD6
+71 more
Copy number gain
See cases
GLikely pathogenic
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
Format
Items per page
Sort by
Choose Destination