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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AHNAK2
(Q2036D +1 more)
Indel
(missense variant)
Migraine
+1 more
GUncertain significance
NOTCH3
(C212R)
Single nucleotide variant
(missense variant)
Migraine
+6 more
GPathogenic
MAP2K2
(K172E)
Single nucleotide variant
(missense variant)
MAP2K2-related disorder
+10 more
GUncertain significance
STIM1
(S512T +7 more)
Single nucleotide variant
(missense variant +1 more)
Migraine
GUncertain significance
NOTCH3
(C484G)
Single nucleotide variant
(missense variant)
Migraine
+3 more
GLikely pathogenic
PPOX
(Y451* +4 more)
Single nucleotide variant
(nonsense)
Abnormal blistering of the skin
+3 more
GPathogenic
SLC2A1
(Q469H)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+13 more
GUncertain significance
LOC126859827, TAB2
(R347* +1 more)
Single nucleotide variant
(nonsense)
Rectal prolapse
+5 more
GPathogenic/Likely pathogenic
MYH6
(R1532C)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
CACNA1A, LOC126862864
(V1393M +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+7 more
GPathogenic/Likely pathogenic
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
DSP
(E1740K)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
+12 more
GConflicting classifications of pathogenicity
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
CAPN3
(T184fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+24 more
GPathogenic
CLCN1
(R317Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GPathogenic/Likely pathogenic
MYH6
(Q1065H)
Single nucleotide variant
(missense variant)
Migraine
+7 more
GConflicting classifications of pathogenicity
MT-ND1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
SCN5A
(G298S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+14 more
GUncertain significance
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