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Items: 1 to 100 of 222

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
LOC129998995, LOC129998996
+2212 more
Copy number gain
See cases
GPathogenic
LOC129999548, LOC129999549
+1547 more
Copy number gain
See cases
GPathogenic
CADPS2, CALD1
+1380 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1176 more
Copy number gain
See cases
GPathogenic
TMEM139-AS1, TMEM140
+1052 more
Copy number gain
See cases
GPathogenic
MIR5707, MIR595
+1046 more
Copy number gain
See cases
GPathogenic
LOC123956245, LOC123956246
+1025 more
Copy number gain
See cases
GPathogenic
LOC285889, LOC349160
+1025 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1019 more
Copy number gain
See cases
GPathogenic
LOC129999467, LOC129999468
+944 more
Copy number loss
See cases
GPathogenic
LOC129999526, LOC129999527
+908 more
Copy number gain
See cases
GPathogenic
AGAP3, AGK
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABCB8, ABCF2
+692 more
Copy number gain
See cases
GPathogenic
DYNC2I1, EN2
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
LOC129999649, LOC129999650
+737 more
Copy number loss
See cases
GPathogenic
LOC129389950, LOC129999513
+707 more
Copy number loss
See cases
GPathogenic
LOC129389931, LOC129389932
+573 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+358 more
Copy number loss
See cases
GPathogenic
TRC-GCA22-1, TRC-GCA23-1
+540 more
Copy number loss
See cases
GPathogenic
LOC129999578, LOC129999579
+538 more
Copy number loss
See cases
GLikely pathogenic
ABCB8, ABCF2
+533 more
Copy number loss
See cases
GPathogenic
ATG9B, ATP6V0E2
+473 more
Copy number loss
See cases
GPathogenic
LOC129389937, LOC129389938
+526 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+526 more
Copy number loss
See cases
GPathogenic
LOC126860222, LOC126860223
+329 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+293 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+212 more
Copy number gain
See cases
GLikely pathogenic
ABCB8, ABCF2
+407 more
Copy number loss
See cases
GPathogenic
LOC129999605, LOC129999606
+205 more
Copy number gain
See cases
GUncertain significance
LOC110121278, LOC110121279
+191 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+375 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+351 more
Copy number loss
See cases
GPathogenic
LOC110973015, NOS3
Single nucleotide variant
(intron variant)
Metabolic syndrome, susceptibility to
Gprotective
LOC110973015, NOS3
Single nucleotide variant
(intron variant)
Coronary artery spasm 1, susceptibility to
Grisk factor
LOC110973015, NOS3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC110973015, NOS3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC110973015, NOS3
(A49V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
(P58S)
Single nucleotide variant
(missense variant)
Premature ovarian failure
GLikely pathogenic
NOS3
(E75D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
(V76A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NOS3
Single nucleotide variant
(intron variant)
not provided
GBenign
NOS3
Single nucleotide variant
(intron variant)
not provided
GBenign
NOS3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NOS3
(D91N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
(T95I)
Single nucleotide variant
(missense variant)
Essential hypertension
GUncertain significance
NOS3
(R98C)
Single nucleotide variant
(missense variant)
NOS3-related condition
GUncertain significance
NOS3
(R112Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
NOS3
(L123P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
(L124R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
(R128W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
(R128Q)
Single nucleotide variant
(missense variant)
NOS3-related condition
+1 more
GBenign/Likely benign
NOS3
Single nucleotide variant
(synonymous variant)
Alzheimer disease type 1
+4 more
GBenign/Likely benign
NOS3
(E169K)
Single nucleotide variant
(missense variant)
Premature ovarian failure
GLikely pathogenic
NOS3
(F172L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
(A174T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NOS3
(S203Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOS3
(Y210C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
(N223K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOS3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NOS3
(C235F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
(A252S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
NOS3
(G259D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
Single nucleotide variant
(synonymous variant)
NOS3-related condition
GLikely benign
NOS3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NOS3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NOS3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NOS3
Single nucleotide variant
(intron variant)
not provided
GBenign
NOS3
Single nucleotide variant
(synonymous variant)
NOS3-related condition
+1 more
GBenign
NOS3
(G284S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
(R285H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
(D287N)
Single nucleotide variant
(missense variant)
not provided
GBenign
NOS3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NOS3
(D298E)
Single nucleotide variant
(missense variant +1 more)
Metabolic syndrome, susceptibility to
Grisk factor
NOS3
(D298E)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign
NOS3
(P307A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
(E308K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NOS3
Single nucleotide variant
(synonymous variant)
NOS3-related condition
GLikely benign
NOS3
Single nucleotide variant
(synonymous variant)
NOS3-related condition
GLikely benign
NOS3
(A351V)
Single nucleotide variant
(missense variant)
Alzheimer disease
GUncertain significance
NOS3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NOS3
Single nucleotide variant
(intron variant)
not provided
GBenign
NOS3
Single nucleotide variant
(intron variant)
not provided
GBenign
NOS3
(M383L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3
(V404M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126860224, NOS3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LOC126860224, NOS3
(A422T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LOC126860224, NOS3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126860224, NOS3
(A423T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LOC126860224, NOS3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NOS3, LOC126860224
(R474H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOS3, LOC126860224
(T488I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126860224, NOS3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126860224, NOS3
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126860224, NOS3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126860224, NOS3
(V503M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126860224, NOS3
(A520V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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