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Links from Gene

Items: 77

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA
(H38fs)
Deletion
(frameshift variant)
Immunodeficiency 51
GLikely pathogenic
IL17RA
(E241fs)
Deletion
(frameshift variant)
Immunodeficiency 51
GLikely pathogenic
IL17RA, LOC130066894
(P14T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL17RA
Duplication
Immunodeficiency 51
GUncertain significance
IL17RA
(L491P +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC130066894
Single nucleotide variant
(5 prime UTR variant)
IL17RA-related disorder
GLikely benign
IL17RA, LOC126863094
Single nucleotide variant
(synonymous variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC129391259
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 51
GLikely benign
IL17RA, LOC126863094
Single nucleotide variant
(synonymous variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC129391259
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 51
GLikely benign
IL17RA, LOC126863094
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC130066894
(S6T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL17RA
(K408E +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC129391259
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC126863094
Single nucleotide variant
(synonymous variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC129391259
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 51
GLikely benign
IL17RA, LOC130066894
Single nucleotide variant
(synonymous variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC129391259
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC130066894
(S6N)
Single nucleotide variant
(missense variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC129391259
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 51
GLikely benign
IL17RA, LOC130066894
(P14R)
Single nucleotide variant
(missense variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC129391259
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC129391259
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 51
GLikely benign
IL17RA, LOC129391259
Single nucleotide variant
(intron variant)
See cases
GUncertain significance
IL17RA, LOC129391259
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC126863094
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC126863094
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC129391259
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC129391259
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GBenign
IL17RA, LOC129391259
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 51
GLikely benign
IL17RA, LOC129391259
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 51
GLikely benign
IL17RA, LOC129391259
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC129391259
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC129391259
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC129391259
(M317V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
IL17RA, LOC129391259
(L332P)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 51
GUncertain significance
LOC130066894, IL17RA
(R5C)
Single nucleotide variant
(missense variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC126863094
(T362I +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
IL17RA, LOC129391259
(R346S)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC130066894
(P8L)
Single nucleotide variant
(missense variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC126863094
(S356N +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC126863094
Duplication
(intron variant)
Immunodeficiency 51
GBenign
IL17RA, LOC129391259
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 51
GLikely benign
IL17RA, LOC126863094
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GLikely benign
LOC129391259, IL17RA
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 51
GLikely benign
IL17RA, LOC130066894
Single nucleotide variant
(synonymous variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC130066894
Single nucleotide variant
(synonymous variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC129391259
(V336I)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC129391259
(V333L)
Indel
(missense variant +1 more)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC129391259
(V341I)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC126863094
Single nucleotide variant
(synonymous variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC130066894
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC130066894
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency 51
GBenign
IL17RA, LOC129391259
(T344A)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC129391259
(P318S)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC129391259
(W320C)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 51
GUncertain significance
LOC129391259, IL17RA
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GLikely benign
IL17RA, LOC126863094
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL17RA, LOC129391259
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 51
GConflicting classifications of pathogenicity
IL17RA, LOC130066894
Single nucleotide variant
(synonymous variant)
Immunodeficiency 51
GConflicting classifications of pathogenicity
IL17RA, LOC130066894
(P7S)
Single nucleotide variant
(missense variant)
Immunodeficiency 51
+1 more
GConflicting classifications of pathogenicity
IL17RA, LOC126863094
(D329N +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC130066894
(A3V)
Single nucleotide variant
(missense variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC130066894
(S9F)
Single nucleotide variant
(missense variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC126863094
(Y361H +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC126863094
Single nucleotide variant
(synonymous variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC126863094
(G349A +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 51
GConflicting classifications of pathogenicity
IL17RA, LOC129391259
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GConflicting classifications of pathogenicity
IL17RA, LOC129391259
Single nucleotide variant
(intron variant)
Immunodeficiency 51
GConflicting classifications of pathogenicity
IL17RA, LOC129391259
(W320R)
Single nucleotide variant
(missense variant +1 more)
Familial Candidiasis, Recessive
+1 more
GConflicting classifications of pathogenicity
IL17RA, LOC130066894
Single nucleotide variant
(synonymous variant)
Immunodeficiency 51
GConflicting classifications of pathogenicity
IL17RA, LOC130066894
(P7L)
Single nucleotide variant
(missense variant)
Familial Candidiasis, Recessive
+2 more
GLikely benign
IL17RA, LOC130066894
Single nucleotide variant
(5 prime UTR variant)
Familial Candidiasis, Recessive
+3 more
GBenign
IL17RA, LOC130066894
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC130066894
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency 51
GUncertain significance
IL17RA, LOC130066894
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency 51
GUncertain significance
LOC130066894, IL17RA
Single nucleotide variant
(5 prime UTR variant)
Familial Candidiasis, Recessive
+2 more
GBenign
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