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Links from MedGen

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WASHC5
(K70fs)
Deletion
(5 prime UTR variant +1 more)
Combined oxidative phosphorylation defect type 7
+1 more
GPathogenic
WASHC5
Indel
(intron variant)
Ritscher-Schinzel syndrome 1
GLikely pathogenic
WASHC5, LOC126860498
(P1070fs +1 more)
Deletion
(frameshift variant)
Ritscher-Schinzel syndrome 1
GLikely pathogenic
WASHC5
(H231R +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 1
GUncertain significance
WASHC5
Indel
(intron variant)
Ritscher-Schinzel syndrome 1
GUncertain significance
WASHC5
(K662M +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 1
+2 more
GUncertain significance
WASHC5, WASHC5-AS1
(K950R +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 1
+1 more
GUncertain significance
WASHC5
(R605C +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 1
GUncertain significance
WASHC5
(R682Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
WASHC5
(Q78*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GPathogenic
WASHC5
(L230R +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 1
GUncertain significance
WASHC5
(E61K +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 1
+3 more
GUncertain significance
WASHC5
(Q628R +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
+1 more
GUncertain significance
WASHC5
(C140*)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DPYSL5
(G47R)
Single nucleotide variant
(missense variant)
Dandy-Walker syndrome
+3 more
GConflicting classifications of pathogenicity
WASHC5
(R228* +1 more)
Single nucleotide variant
(nonsense)
Ritscher-Schinzel syndrome 1
+1 more
GPathogenic
WASHC5
Single nucleotide variant
(splice acceptor variant)
Ritscher-Schinzel syndrome 1
+1 more
GLikely pathogenic
WASHC5
(S291N +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 1
+1 more
GUncertain significance
WASHC5
(S591P +1 more)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome
+1 more
GPathogenic/Likely pathogenic
WASHC5
(I808V +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LOC126860498, WASHC5
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
WASHC5
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
CCDC22
(Y557C)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GPathogenic
CCDC22
(T17A)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GPathogenic
LOC126860498, WASHC5
Single nucleotide variant
(splice donor variant)
Ritscher-Schinzel syndrome 1
GPathogenic
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