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Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCLRE1C
(R544Q +2 more)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(E632K +2 more)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GBenign
DCLRE1C
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely benign
DCLRE1C
(T557fs +2 more)
Duplication
(frameshift variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
(K428N +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GBenign
DCLRE1C
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(S320C +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GBenign
DCLRE1C
(Y212N +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(G211A +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(A208V +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(N205I +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(Y199* +2 more)
Single nucleotide variant
(nonsense +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C
(S82N +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(R191* +2 more)
Single nucleotide variant
(nonsense +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C
(V186L +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely benign
DCLRE1C
(Y59* +2 more)
Single nucleotide variant
(nonsense +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C
(P171R +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GBenign
DCLRE1C
(G153R +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GBenign
DCLRE1C
(A140V +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely benign
DCLRE1C
(D136N +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
(S119*)
Single nucleotide variant
(nonsense +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C
(G118*)
Single nucleotide variant
(nonsense +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C
(P117L)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(C116R)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
(V107I)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(E105D)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(E104K)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(S94Y)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(Q92H)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(T89A)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(E88K)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(S84C)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(I83V)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(I83L)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
Single nucleotide variant
(splice acceptor variant)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(I82T)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(R81Q)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(R81*)
Single nucleotide variant
(nonsense +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C
(R76T)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GBenign
DCLRE1C
(T71M)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(L69*)
Single nucleotide variant
(nonsense +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
(T65I)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C
(C61R)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(Y60*)
Single nucleotide variant
(5 prime UTR variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
(V57F)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely benign
DCLRE1C
Single nucleotide variant
(intron variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C
(L47*)
Single nucleotide variant
(5 prime UTR variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
(T46I)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(A44D)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
Single nucleotide variant
(splice donor variant)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C
(K36E)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(H35D)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C
(H33Y)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(S32C)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
(S32F)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
(A28P)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
(F19L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(R18H)
Single nucleotide variant
(5 prime UTR variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(D17G)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(I16T)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
(I14T)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(I14S)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(P12S)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(A9T)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(M8I)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(G6E)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(E5Q)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(M1T)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
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