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Links from MedGen

Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDK6
Single nucleotide variant
(3 prime UTR variant)
Behcet disease
Gassociation
CDK6
Single nucleotide variant
(intron variant)
Behcet disease
Gassociation
IL18R1
Single nucleotide variant
(intron variant)
Behcet disease
Gassociation
IL18R1
Single nucleotide variant
(intron variant)
Behcet disease
+1 more
GBenign; association
IL18R1
Single nucleotide variant
(intron variant)
Behcet disease
Gassociation
MEFV
(G111E)
Single nucleotide variant
(missense variant +1 more)
Behcet disease
GPathogenic
ADA2
(V307I +3 more)
Single nucleotide variant
(missense variant)
ADA2-related disorder
+4 more
GBenign/Likely benign
TNFRSF1A
(R312K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
MEFV
(L367V +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MEFV
(H404R +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+1 more
GUncertain significance
ADA2
(A205V +2 more)
Single nucleotide variant
(missense variant)
Vasculitis due to ADA2 deficiency
GUncertain significance
ADA2
(M267I +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ADA2
(R49W +1 more)
Single nucleotide variant
(missense variant +1 more)
Vasculitis due to ADA2 deficiency
+2 more
GUncertain significance
PSTPIP1
(T68M +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
+2 more
GBenign/Likely benign
PSTPIP1
(D289H +2 more)
Single nucleotide variant
(missense variant +1 more)
Behcet disease
GPathogenic
PSTPIP1
(V122I +2 more)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+1 more
GUncertain significance
NOD2
(L349F +1 more)
Single nucleotide variant
(missense variant +1 more)
Behcet disease
GPathogenic
NOD2
(L81V +1 more)
Single nucleotide variant
(missense variant +1 more)
Blau syndrome
+1 more
GLikely benign
NOD2
(V733L +1 more)
Single nucleotide variant
(missense variant +1 more)
Behcet disease
GPathogenic
TNFRSF1A
(H155Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Behcet disease
GPathogenic
NOD2
(V816I +1 more)
Single nucleotide variant
(missense variant +1 more)
Behcet disease
GPathogenic
TNFRSF1A
(I199T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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