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Links from MedGen

Items: 1 to 100 of 392

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WASHC5
(F99Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary spastic paraplegia 8
GUncertain significance
WASHC5
(Q194P +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
GUncertain significance
WASHC5
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 8
GLikely pathogenic
WASHC5
(R522Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
GUncertain significance
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
(C140W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5, WASHC5-AS1
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
(P813fs +1 more)
Deletion
(frameshift variant)
Ritscher-Schinzel syndrome
+1 more
GPathogenic
WASHC5, WASHC5-AS1
(T756I +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
(N389S +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
(S458fs +1 more)
Deletion
(frameshift variant)
Ritscher-Schinzel syndrome
+1 more
GPathogenic
WASHC5
(E219G +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
(M954L +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
(A98S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5, WASHC5-AS1
(I800V +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
LOC126860498, WASHC5
(C1110R +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
(R374Q +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
(G469V +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
LOC126860498, WASHC5
(W1073R +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5, WASHC5-AS1
(V885A +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
LOC126860498, WASHC5
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
WASHC5
(N9S)
Single nucleotide variant
(missense variant +1 more)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(5 prime UTR variant +1 more)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
(A38G)
Single nucleotide variant
(missense variant +1 more)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5, WASHC5-AS1
(F891V +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(5 prime UTR variant +1 more)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
(I89V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
LOC126860498, WASHC5
(D1069E +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
(E65K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5, WASHC5-AS1
Single nucleotide variant
(synonymous variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(synonymous variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
(Y211* +1 more)
Single nucleotide variant
(nonsense)
Ritscher-Schinzel syndrome
+1 more
GPathogenic
WASHC5
(A1049V +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(synonymous variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(synonymous variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(synonymous variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
(R80Q +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 8
+2 more
GLikely benign
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
(M224I +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(synonymous variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5, LOC126860498
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
(Y664S +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5, WASHC5-AS1
(L945V +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
(M206V +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
+2 more
GUncertain significance
WASHC5, WASHC5-AS1
(S784T +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+2 more
GUncertain significance
WASHC5
(M1T)
Single nucleotide variant
(missense variant +2 more)
Hereditary spastic paraplegia 8
GUncertain significance
WASHC5
(N836D +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
GUncertain significance
WASHC5
(L832P +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
GUncertain significance
WASHC5, LOC126860498
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 8
GUncertain significance
WASHC5
(R675Q +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+2 more
GUncertain significance
NSMCE2, WASHC5
Duplication
Hereditary spastic paraplegia 8
+1 more
GUncertain significance
WASHC5
Deletion
Hereditary spastic paraplegia 8
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 8
+1 more
GUncertain significance
WASHC5, WASHC5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 8
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 8
+1 more
GLikely benign
WASHC5
(I758T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
WASHC5
Single nucleotide variant
(synonymous variant)
WASHC5-related condition
+2 more
GLikely benign
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(synonymous variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 8
+1 more
GLikely benign
WASHC5
(V312L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
+1 more
GUncertain significance
WASHC5
(E97Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
+1 more
GUncertain significance
LOC126860498, WASHC5
(D921N +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
+1 more
GUncertain significance
WASHC5
(N895K +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 8
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 8
+1 more
GLikely benign
LOC126860498, WASHC5
(D1072N +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 8
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 8
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 8
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 8
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary spastic paraplegia 8
+1 more
GLikely benign
WASHC5
(T379I +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
(R435S +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(synonymous variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5-AS1, WASHC5
(M735V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(synonymous variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
(R17T)
Single nucleotide variant
(intron variant +1 more)
Hereditary spastic paraplegia 8
+1 more
GUncertain significance
WASHC5
(I991M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
+1 more
GUncertain significance
WASHC5
(V112M +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 8
+1 more
GLikely benign
WASHC5
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GLikely benign
WASHC5
Indel
(intron variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
(E515Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
+1 more
GUncertain significance
WASHC5
(H604R +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GUncertain significance
WASHC5
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 8
+1 more
GUncertain significance
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