U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKCH, PRKCH-AS1
(G55A)
Single nucleotide variant
(missense variant)
Ischemic stroke
GUncertain significance
F5
(Q1318K)
Single nucleotide variant
(missense variant)
Factor V deficiency
+6 more
GLikely benign
NOTCH3
(C212R)
Single nucleotide variant
(missense variant)
Migraine
+6 more
GPathogenic
NOS3
Single nucleotide variant
(synonymous variant)
Alzheimer disease type 1
+4 more
GBenign/Likely benign
F5
(H710R)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign
F5
(E1054D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
F5
Single nucleotide variant
(synonymous variant)
not provided
+8 more
GBenign/Likely benign
F5
(K2185R)
Single nucleotide variant
(missense variant)
not provided
+7 more
GBenign/Likely benign
F5
(I1755M)
Single nucleotide variant
(missense variant)
Thrombophilia due to activated protein C resistance
+9 more
GConflicting classifications of pathogenicity
ACSL4
Copy number loss
Ischemic stroke
+1 more
GPathogenic
NOS3
(D298E)
Single nucleotide variant
(missense variant +1 more)
Metabolic syndrome, susceptibility to
Grisk factor
MT-CO2
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CYB
Single nucleotide variant
Ischemic stroke
+1 more
GUncertain significance
NOTCH3
(R153C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
F2
Single nucleotide variant
(intron variant)
Ischemic stroke
+4 more
GBenign
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GPathogenic/Likely pathogenic
GRN
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 11
+2 more
GBenign
ACE
Insertion
ANGIOTENSIN I-CONVERTING ENZYME INSERTION/DELETION POLYMORPHISM
+6 more
GConflicting classifications of pathogenicity; risk factor
NOS3
(D298E)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign
F2
Single nucleotide variant
Cerebral palsy
+5 more
GConflicting classifications of pathogenicity; risk factor
F5
(R534Q)
Single nucleotide variant
(missense variant)
hormonal contraceptives for systemic use response - Toxicity
Gdrug response
Format
Items per page
Sort by
Choose Destination