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Items: 1 to 100 of 380

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCF12
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
TCF12
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
TCF12
(Q4L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(R7C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(M8fs)
Duplication
(frameshift variant +1 more)
Hypogonadism with anosmia
GUncertain significance
TCF12
(M8V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TCF12
(M8T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF12
(L21fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
TCF12
Single nucleotide variant
(intron variant)
not provided
GBenign
TCF12
Microsatellite
(intron variant)
not provided
GLikely benign
TCF12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF12
Single nucleotide variant
(intron variant)
not provided
GBenign
TCF12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF12
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
TCF12
(F27Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(T36S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TCF12
(P38S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(S44G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TCF12
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
TCF12
(G48E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
Single nucleotide variant
(intron variant)
not provided
GBenign
TCF12
(G55R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TCF12
(S69F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TCF12
(Y70fs +1 more)
Deletion
(frameshift variant +1 more)
TCF12-related craniosynostosis
GPathogenic
TCF12
Single nucleotide variant
(splice donor variant)
Hypogonadotropic hypogonadism 26 with or without anosmia
GLikely pathogenic
TCF12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF12
Single nucleotide variant
(intron variant)
not provided
GBenign
TCF12
Single nucleotide variant
(5 prime UTR variant +1 more)
TCF12-related disorder
GLikely benign
TCF12
(D20G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(H23D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(H27P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(D100A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(R102* +2 more)
Single nucleotide variant
(nonsense +1 more)
TCF12-related craniosynostosis
GLikely pathogenic
TCF12
(P111L +2 more)
Single nucleotide variant
(missense variant +1 more)
TCF12-related disorder
GUncertain significance
TCF12
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
TCF12
(N104S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TCF12
(S105* +2 more)
Single nucleotide variant
(nonsense +1 more)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
GLikely pathogenic
TCF12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF12
Single nucleotide variant
(splice donor variant)
TCF12-related craniosynostosis
GLikely pathogenic
TCF12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF12
Single nucleotide variant
(intron variant)
not provided
GBenign
TCF12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF12
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
TCF12
(E55D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TCF12
(R56K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TCF12
(L119P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(D123H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(D135G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TCF12
(T124A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(G128fs +2 more)
Deletion
(frameshift variant +1 more)
Global developmental delay
+1 more
GLikely pathogenic
TCF12
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
TCF12
Single nucleotide variant
(intron variant)
not provided
GBenign
TCF12
Single nucleotide variant
(intron variant)
not provided
GBenign
TCF12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF12
Single nucleotide variant
(intron variant)
not provided
GBenign
TCF12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF12
Single nucleotide variant
(intron variant)
not provided
GBenign
TCF12
(L133P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(L140P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(G153R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TCF12
(S149fs +2 more)
Deletion
(frameshift variant +1 more)
HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA
GPathogenic
TCF12
(S149* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
TCF12
(P152S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(G153W +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental delay
GPathogenic
TCF12
(T154I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(S102P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(P110L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(L111F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(A174V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TCF12
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TCF12
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TCF12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF12
Single nucleotide variant
(intron variant)
not provided
GBenign
TCF12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF12
Single nucleotide variant
(intron variant)
not provided
GBenign
TCF12
Single nucleotide variant
(intron variant)
not provided
GBenign
TCF12
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
TCF12
(P119T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF12
(V183fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
TCF12
(P130S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
TCF12
Single nucleotide variant
(splice donor variant)
Developmental disorder
GLikely pathogenic
TCF12
Single nucleotide variant
(intron variant)
not provided
GPathogenic
TCF12
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TCF12
Single nucleotide variant
(intron variant)
not provided
GBenign
TCF12
Single nucleotide variant
(intron variant)
not provided
GBenign
TCF12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF12
(Y2H)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
TCF12
(M10I)
Single nucleotide variant
(missense variant +2 more)
TCF12-related disorder
GLikely benign
TCF12
Duplication
(intron variant)
not provided
GBenign
TCF12
Duplication
(intron variant)
not provided
GLikely benign
TCF12
Deletion
(intron variant)
not provided
GBenign
TCF12
Deletion
(intron variant)
not provided
GLikely benign
TCF12
Single nucleotide variant
(intron variant)
not provided
GBenign
TCF12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF12
Duplication
(intron variant)
not provided
GBenign
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