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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP1A2
(F321L)
Single nucleotide variant
(missense variant)
Dysphasia
+2 more
GUncertain significance
DYNC1H1
(D4433A)
Single nucleotide variant
(missense variant)
Impaired vibration sensation in the lower limbs
+6 more
GUncertain significance
MT-ND6
Single nucleotide variant
Cognitive impairment
+6 more
GUncertain significance
NPC1
(P474L)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+6 more
GPathogenic
WASHC5
Single nucleotide variant
(synonymous variant)
Ritscher-Schinzel syndrome
+8 more
GConflicting classifications of pathogenicity
FKRP
(L276I +2 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2I
GLikely pathogenic
CLCN1
(G190S)
Indel
(missense variant +1 more)
Myotonia of the upper limb
+8 more
GConflicting classifications of pathogenicity
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
FKRP
(L276I)
Single nucleotide variant
(missense variant)
FKRP-related condition
+20 more
GPathogenic/Likely pathogenic
NPC1
(P1007A)
Single nucleotide variant
(missense variant)
NPC1-related condition
+10 more
GConflicting classifications of pathogenicity
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