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Links from MedGen

Items: 1 to 100 of 397

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITCH
Deletion
Syndromic multisystem autoimmune disease due to ITCH deficiency
GPathogenic
ITCH
Deletion
Syndromic multisystem autoimmune disease due to ITCH deficiency
GPathogenic
ITCH
(M1I)
Single nucleotide variant
(missense variant +2 more)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely pathogenic
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
ITCH-related disorder
+1 more
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant +1 more)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant +1 more)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
(S242L +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Deletion
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Insertion
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant +1 more)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
(I668V +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
(W445* +2 more)
Single nucleotide variant
(nonsense)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GPathogenic
ITCH
(W65*)
Single nucleotide variant
(nonsense +1 more)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GPathogenic
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Deletion
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(5 prime UTR variant +1 more)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
(I268V +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant +1 more)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
(N572D +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
(K16fs +1 more)
Deletion
(frameshift variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GPathogenic
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
(L845M +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
(I788T +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
(A175V +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
(L676R +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
(D181H +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
Deletion
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely pathogenic
AHCY, ITCH
Duplication
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
Deletion
Syndromic multisystem autoimmune disease due to ITCH deficiency
GPathogenic
ITCH
Deletion
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
Single nucleotide variant
(synonymous variant +1 more)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
(N321S +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant +1 more)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
(Q362R +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
(A495P +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
Single nucleotide variant
(synonymous variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
(G207R +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
(F717L +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
(Y246C +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
(D165E +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
Single nucleotide variant
(splice donor variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely pathogenic
ITCH
(I668fs +2 more)
Deletion
(frameshift variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GPathogenic
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GLikely benign
ITCH
(P259S +2 more)
Single nucleotide variant
(missense variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
ITCH
Single nucleotide variant
(intron variant)
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
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