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Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTHFR
(A222V +1 more)
Single nucleotide variant
(missense variant)
methotrexate response - Toxicity
Gdrug response
SERPINC1
(V391A +6 more)
Single nucleotide variant
(missense variant)
Stroke disorder
GUncertain significance
SERPINC1
(I143V +2 more)
Single nucleotide variant
(missense variant +1 more)
Stroke disorder
GUncertain significance
APOB
(R3527Q)
Single nucleotide variant
(missense variant)
Homozygous familial hypercholesterolemia
+10 more
GPathogenic/Likely pathogenic
APOB
(E2566K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
SOS1
(S543P +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
SOS1
(I94T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
IFIH1
(H625N)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+3 more
GUncertain significance
IFIH1
(N176S)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+2 more
GConflicting classifications of pathogenicity
RAF1
(T377P +5 more)
Single nucleotide variant
(missense variant +1 more)
Stroke disorder
GUncertain significance
THPO
(R92Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
Stroke disorder
GUncertain significance
FGB
(R44C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
FGA
(G350R)
Single nucleotide variant
(missense variant)
Stroke disorder
+1 more
GUncertain significance
FGA
(V159I)
Single nucleotide variant
(missense variant)
Stroke disorder
GUncertain significance
ELN
(G473S)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
+5 more
GUncertain significance
CD36
Single nucleotide variant
(splice donor variant +1 more)
Stroke disorder
GPathogenic
CD36
(I114N +2 more)
Single nucleotide variant
(missense variant +3 more)
CD36-related condition
+1 more
GConflicting classifications of pathogenicity
EPHB4
(T654S)
Single nucleotide variant
(missense variant)
Stroke disorder
GUncertain significance
ADAMTS13
(H1109Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
COL5A1
(G1351R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GUncertain significance
CBL
(G397E)
Single nucleotide variant
(missense variant)
Stroke disorder
GUncertain significance
CBL
(G415S)
Single nucleotide variant
(missense variant)
Stroke disorder
+3 more
GUncertain significance
CBL
(L467P)
Single nucleotide variant
(missense variant)
Stroke disorder
+2 more
GUncertain significance
CBL
(S799del)
Microsatellite
(inframe_deletion)
not specified
+4 more
GUncertain significance
C1R
(L285M +1 more)
Single nucleotide variant
(missense variant)
Stroke disorder
GUncertain significance
COL4A2
Single nucleotide variant
(intron variant)
Stroke disorder
+2 more
GUncertain significance
COL4A2
(G729R)
Single nucleotide variant
(missense variant)
Optic nerve hypoplasia
+4 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(P587L)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+14 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(T251I)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+15 more
GConflicting classifications of pathogenicity
NDE1, MYH11
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
MYH11, NDE1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH11
(G695S +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
ABCC6
(V687M +1 more)
Single nucleotide variant
(missense variant +1 more)
Stroke disorder
+4 more
GUncertain significance
ABCC6
(M242I +1 more)
Single nucleotide variant
(missense variant +1 more)
Stroke disorder
GUncertain significance
RNF213
(R941L +1 more)
Single nucleotide variant
(missense variant)
Stroke disorder
GUncertain significance
RNF213, RNF213-AS1
(L4584P +1 more)
Single nucleotide variant
(missense variant)
Stroke disorder
GUncertain significance
RNF213, RNF213-AS1
(K4732T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH3
(A1852T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NOTCH3
(P698R)
Single nucleotide variant
(missense variant)
Stroke disorder
GUncertain significance
NOTCH3
Single nucleotide variant
(synonymous variant)
Stroke disorder
+1 more
GBenign/Likely benign
JAG1
(P1006L)
Single nucleotide variant
(missense variant)
Stroke disorder
+4 more
GConflicting classifications of pathogenicity
MYLK2
(P45L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADA2
(T119A +3 more)
Single nucleotide variant
(missense variant)
Vasculitis due to ADA2 deficiency
+1 more
GPathogenic
LZTR1
(R790W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
GLA, RPL36A-HNRNPH2
(W399S)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GUncertain significance
FLNA
(N1864S +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GConflicting classifications of pathogenicity
FLNA
(L1752P +1 more)
Single nucleotide variant
(missense variant)
FLNA-related condition
+6 more
GUncertain significance
FLNA
(V1509I)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+5 more
GUncertain significance
MT-TL1
Single nucleotide variant
Glucose intolerance
+12 more
GPathogenic/Likely pathogenic
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