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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCIRG1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
TCIRG1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TCIRG1
Single nucleotide variant
(intron variant)
TCIRG1-related condition
+1 more
GConflicting classifications of pathogenicity
TCIRG1
(K83E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GBenign
TCIRG1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TCIRG1
(Q98*)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GPathogenic
TCIRG1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
TCIRG1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
TCIRG1
(G160E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GBenign/Likely benign
TCIRG1
Single nucleotide variant
(5 prime UTR variant +1 more)
TCIRG1-related condition
+2 more
GBenign/Likely benign
TCIRG1
(F219S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TCIRG1
(I19fs +1 more)
Duplication
(5 prime UTR variant +1 more)
not provided
GPathogenic
TCIRG1
(R276W +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
+1 more
GConflicting classifications of pathogenicity
TCIRG1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TCIRG1
(M403I +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 1
+2 more
GConflicting classifications of pathogenicity
TCIRG1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TCIRG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive osteopetrosis 1
+2 more
GBenign
TCIRG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive osteopetrosis 1
+2 more
GConflicting classifications of pathogenicity
TCIRG1
(N503S +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 1
+1 more
GUncertain significance
TCIRG1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
TCIRG1
(S528T +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TCIRG1
(V539I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TCIRG1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
TCIRG1
(F555L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCIRG1
(V558L +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
TCIRG1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
TCIRG1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
TCIRG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive osteopetrosis 1
+1 more
GConflicting classifications of pathogenicity
TCIRG1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
TCIRG1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TCIRG1
Single nucleotide variant
(synonymous variant)
TCIRG1-related condition
+2 more
GConflicting classifications of pathogenicity
TCIRG1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
TCIRG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive osteopetrosis 1
+1 more
GConflicting classifications of pathogenicity
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