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Links from MedGen

Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGIF1
Deletion
(intron variant +1 more)
Holoprosencephaly 4
GLikely pathogenic
TGIF1
(R274Q +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
(H122Q +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
(R53del +3 more)
Deletion
(inframe_deletion)
Holoprosencephaly 4
GUncertain significance
TGIF1
Single nucleotide variant
(intron variant)
Holoprosencephaly 4
GLikely benign
TGIF1
(L270F +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
(K103R +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
(F100fs +3 more)
Deletion
(frameshift variant)
Holoprosencephaly 4
GPathogenic
TGIF1
(S52fs +3 more)
Deletion
(frameshift variant)
Holoprosencephaly 4
GLikely pathogenic
TGIF1
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 4
GBenign
TGIF1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 4
GBenign
TGIF1
Single nucleotide variant
(intron variant)
Holoprosencephaly 4
GLikely benign
TGIF1
(T120M +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
(A184V +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
(T139N +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
(T176A +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
+1 more
GUncertain significance
TGIF1
Single nucleotide variant
(intron variant)
Holoprosencephaly 4
GLikely benign
TGIF1
(M127T +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
(R240W +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 4
GLikely benign
TGIF1
(F112L +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 4
GLikely benign
TGIF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Holoprosencephaly 4
GUncertain significance
TGIF1
(Q225R +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 4
GLikely benign
TGIF1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 4
GLikely benign
TGIF1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 4
+1 more
GLikely benign
TGIF1
Single nucleotide variant
(intron variant)
Holoprosencephaly 4
+1 more
GLikely benign
TGIF1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 4
GLikely benign
TGIF1
Single nucleotide variant
(intron variant)
Holoprosencephaly 4
GLikely benign
TGIF1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 4
GLikely benign
TGIF1
Single nucleotide variant
(intron variant)
Holoprosencephaly 4
GLikely benign
TGIF1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 4
GLikely benign
TGIF1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 4
GLikely benign
TGIF1
(V166I +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
EMILIN2, LPIN2
+5 more
Deletion
Holoprosencephaly 4
GPathogenic
TGIF1
(P163R +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
(I183M +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
(R154G +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
(S191L +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
(M111V +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TGIF1
(V106M +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Holoprosencephaly 4
GUncertain significance
TGIF1
(R113H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TGIF1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
TGIF1
(P135S +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Holoprosencephaly 4
GBenign
TGIF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Holoprosencephaly 4
GBenign
TGIF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Holoprosencephaly 4
GBenign
TGIF1
(R105C +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 4
GLikely benign
TGIF1
(H79Q +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GBenign
TGIF1
Single nucleotide variant
(synonymous variant +1 more)
TGIF1-related disorder
+2 more
GBenign
LOC130062108, LOC130062109
+3 more
Deletion
Holoprosencephaly 4
GPathogenic
TGIF1
(R113C +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
(R90C +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GLikely pathogenic
TGIF1
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 4
GLikely benign
TGIF1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 4
GConflicting classifications of pathogenicity
TGIF1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 4
+1 more
GBenign/Likely benign
TGIF1
Single nucleotide variant
(synonymous variant)
TGIF1-related disorder
+2 more
GBenign
TGIF1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
TGIF1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
TGIF1
(P163L +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
TGIF1
(P163S +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
TGIF1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
TGIF1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 4
+3 more
GConflicting classifications of pathogenicity
TGIF1
(V174G +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GBenign
Single nucleotide variant
Holoprosencephaly 4
GBenign
TGIF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Holoprosencephaly 4
GBenign
TGIF1
(Q107L +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
TGIF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Holoprosencephaly 4
GPathogenic
TGIF1
(S162F +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GUncertain significance
TGIF1
(T151A +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
TGIF1
(P63R +3 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 4
GPathogenic
TGIF1
(S28C +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
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