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Links from MedGen

Items: 1 to 100 of 1162

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN11A
(Y66S)
Single nucleotide variant
(missense variant)
Familial episodic pain syndrome with predominantly lower limb involvement
GLikely pathogenic
SCN11A
Duplication
Familial episodic pain syndrome with predominantly lower limb involvement
+1 more
GUncertain significance
SCN11A
Deletion
Familial episodic pain syndrome with predominantly lower limb involvement
+1 more
GUncertain significance
SCN11A
Deletion
Familial episodic pain syndrome with predominantly lower limb involvement
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(L786S)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(C1029Y)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(W1553*)
Single nucleotide variant
(nonsense)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(K1116fs)
Deletion
(frameshift variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(K1354*)
Single nucleotide variant
(nonsense)
Hereditary sensory and autonomic neuropathy type 7
+2 more
GUncertain significance
SCN11A
(F1781I)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(Y210C)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(L448R)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(D1791H)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(F19I)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(A1637S)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(N1597H)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(Y947C)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(A1645P)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(G1776R)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(G137S)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Deletion
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(Q422R)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(E993*)
Single nucleotide variant
(nonsense)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(M276R)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(L722V)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(N812Y)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(D287fs)
Deletion
(frameshift variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(K64N)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(C1774fs)
Deletion
(frameshift variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(E1327fs)
Deletion
(frameshift variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(A1601P)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(I1510V)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(L1089F)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(E512D)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(M1260I)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(H1789R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SCN11A
Insertion
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
LOC126806652, SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A, LOC126806652
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(D632Y)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(L1770P)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
LOC126806652, SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(V399F)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(P981L)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(V1053G)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(D1761A)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(D186G)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(F1256C)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(H299N)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(Q325K)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(I201S)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(N1427S)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(Q425*)
Single nucleotide variant
(nonsense)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(C1434S)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(D1261N)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Insertion
(inframe_indel)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(N772Y)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(I1086fs)
Deletion
(frameshift variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(D1529G)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(M1445V)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(E13K)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
LOC126806652, SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(F261L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SCN11A
(F183V)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(M420I)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(Q562H)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GLikely benign
SCN11A
(R354W)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
SCN11A
(N688H)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 7
+1 more
GUncertain significance
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