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Links from MedGen

Items: 1 to 100 of 377

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCIRG1
(E212K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
GUncertain significance
TCIRG1
Single nucleotide variant
(intron variant)
Autosomal recessive osteopetrosis 1
GUncertain significance
TCIRG1
(Y214* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive osteopetrosis 1
GPathogenic
TCIRG1
Single nucleotide variant
(splice donor variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
Duplication
(nonsense +1 more)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(V476fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(Q196* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TCIRG1
(Q249* +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TCIRG1
(L145fs +2 more)
Microsatellite
(frameshift variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
Single nucleotide variant
(splice donor variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(S124* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(V131fs)
Deletion
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(K2* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic
TCIRG1
(D160fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
Single nucleotide variant
(splice donor variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(E494fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic
TCIRG1
(F169fs)
Deletion
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(C296* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
Single nucleotide variant
(splice donor variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(Q121*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(E102fs)
Deletion
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(W107* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic/Likely pathogenic
TCIRG1
(L358fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic/Likely pathogenic
TCIRG1
(Q258* +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(W216*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic
TCIRG1
(G495R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
Single nucleotide variant
(splice donor variant)
Autosomal recessive osteopetrosis 1
+1 more
GLikely pathogenic
TCIRG1
(T152fs)
Indel
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(W189* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(G399fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
Single nucleotide variant
(splice donor variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(I162fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive osteopetrosis 1
+1 more
GLikely pathogenic
TCIRG1
(S149*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic/Likely pathogenic
TCIRG1
(S435fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
Indel
(splice acceptor variant)
Autosomal recessive osteopetrosis 1
GUncertain significance
TCIRG1
(P477R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
PLEKHM1
(G73fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive osteopetrosis 1
GUncertain significance
TCIRG1
(I19fs +1 more)
Deletion
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(H259fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic/Likely pathogenic
TCIRG1
(E105K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TCIRG1
(G112R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TCIRG1
(Q500* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic/Likely pathogenic
TCIRG1
(P82fs)
Deletion
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic/Likely pathogenic
TCIRG1
(V50fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic
TCIRG1
(E247* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TCIRG1
(S307fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(Q331fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
MIR6753, TCIRG1
(C241* +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(F143fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(A256fs +1 more)
Deletion
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(N171fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(S176fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(T277fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(A225fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(E251fs +1 more)
Insertion
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(R6fs)
Deletion
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
(G517R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 1
GUncertain significance
TCIRG1
(F106fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
Duplication
(inframe_insertion)
Autosomal recessive osteopetrosis 1
GUncertain significance
TCIRG1
(Q331* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive osteopetrosis 1
GPathogenic
TCIRG1
Single nucleotide variant
(splice donor variant)
Autosomal recessive osteopetrosis 1
GPathogenic
TCIRG1
(W107* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive osteopetrosis 1
GPathogenic
TCIRG1
(E169K +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 1
GUncertain significance
TCIRG1
Single nucleotide variant
(splice donor variant)
Autosomal recessive osteopetrosis 1
GPathogenic
TCIRG1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive osteopetrosis 1
GPathogenic
TCIRG1
Single nucleotide variant
(splice donor variant)
Autosomal recessive osteopetrosis 1
GPathogenic
TCIRG1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive osteopetrosis 1
+1 more
GLikely pathogenic
TCIRG1
(I721del +2 more)
Deletion
(inframe_deletion)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic/Likely pathogenic
TCIRG1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely pathogenic
TCIRG1
(R363C +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 1
+2 more
GUncertain significance
MIR6753, TCIRG1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely pathogenic
TCIRG1
(L6P +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 1
+1 more
GUncertain significance
TCIRG1
(Q230* +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic
TCIRG1
(F161fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic
TCIRG1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic
TCIRG1
(W189fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TCIRG1
(E175*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TCIRG1
(L113fs +2 more)
Deletion
(frameshift variant)
TCIRG1-related disorder
+2 more
GPathogenic
TCIRG1
(C26fs +2 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TCIRG1
(R362fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic/Likely pathogenic
TCIRG1
(A498fs +2 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
TCIRG1
(A182T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TCIRG1
(Q263* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TCIRG1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TCIRG1
(P142L +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 1
GUncertain significance
TCIRG1
Single nucleotide variant
(intron variant)
not provided
GBenign
TCIRG1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
+2 more
GPathogenic
TCIRG1
(V334I +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 1
GUncertain significance
TCIRG1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
TCIRG1
Deletion
(inframe_indel)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
TCIRG1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TCIRG1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
TCIRG1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TCIRG1
(L442fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic
TCIRG1
(Q126*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive osteopetrosis 1
+1 more
GPathogenic/Likely pathogenic
TCIRG1
(E275fs +1 more)
Microsatellite
(5 prime UTR variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
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