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Links from MedGen

Items: 1 to 100 of 200

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IRF6
(R325H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF6
Deletion
Popliteal pterygium syndrome
+2 more
GPathogenic
IRF6
(W79R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Van der Woude syndrome
+2 more
GUncertain significance
IRF6
(E92K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Van der Woude syndrome
+2 more
GPathogenic
IRF6
(V302A +1 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome
+2 more
GUncertain significance
IRF6
Single nucleotide variant
(intron variant)
Van der Woude syndrome
+2 more
GUncertain significance
IRF6
(D19fs)
Deletion
(frameshift variant +1 more)
Van der Woude syndrome
+2 more
GPathogenic
IRF6
Single nucleotide variant
(splice acceptor variant)
Popliteal pterygium syndrome
+2 more
GLikely pathogenic
IRF6
(S92R +1 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome
+2 more
GUncertain significance
IRF6
Single nucleotide variant
(synonymous variant)
Orofacial cleft 6, susceptibility to
+2 more
GLikely benign
IRF6
Single nucleotide variant
(synonymous variant)
Popliteal pterygium syndrome
+2 more
GLikely benign
IRF6
(M164I +1 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome
+2 more
GLikely benign
IRF6
Single nucleotide variant
(synonymous variant)
Orofacial cleft 6, susceptibility to
+2 more
GLikely benign
IRF6
(I363fs +1 more)
Deletion
(frameshift variant)
Van der Woude syndrome
+2 more
GPathogenic
IRF6
Single nucleotide variant
(intron variant)
Van der Woude syndrome
+2 more
GLikely benign
IRF6
(M1K)
Single nucleotide variant
(missense variant +2 more)
Popliteal pterygium syndrome
+2 more
GPathogenic
IRF6
Single nucleotide variant
(intron variant)
Orofacial cleft 6, susceptibility to
+2 more
GLikely benign
IRF6
Single nucleotide variant
(intron variant)
Orofacial cleft 6, susceptibility to
+2 more
GUncertain significance
IRF6
Indel
(missense variant)
Orofacial cleft 6, susceptibility to
+2 more
GUncertain significance
IRF6
Single nucleotide variant
(synonymous variant)
Popliteal pterygium syndrome
+2 more
GLikely benign
IRF6
(S321N +1 more)
Single nucleotide variant
(missense variant)
Orofacial cleft 6, susceptibility to
+2 more
GUncertain significance
IRF6
Single nucleotide variant
(synonymous variant)
Van der Woude syndrome
+2 more
GBenign
IRF6
Single nucleotide variant
(synonymous variant)
Orofacial cleft 6, susceptibility to
+2 more
GLikely benign
IRF6
(S90T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Orofacial cleft 6, susceptibility to
+2 more
GLikely pathogenic
IRF6
Single nucleotide variant
(synonymous variant)
Popliteal pterygium syndrome
+2 more
GUncertain significance
IRF6
(Q372R +1 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome
+3 more
GUncertain significance
IRF6
(C154R +1 more)
Single nucleotide variant
(missense variant)
Popliteal pterygium syndrome
+2 more
GUncertain significance
IRF6
(G301fs +1 more)
Deletion
(frameshift variant)
Van der Woude syndrome
+2 more
GPathogenic
IRF6
(W122fs +1 more)
Microsatellite
(frameshift variant)
Orofacial cleft 6, susceptibility to
+2 more
GPathogenic
IRF6
(W192* +1 more)
Single nucleotide variant
(nonsense)
Orofacial cleft 6, susceptibility to
+2 more
GPathogenic
IRF6
(F351S +1 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome
+2 more
GPathogenic
IRF6
(V108fs +1 more)
Deletion
(frameshift variant)
Popliteal pterygium syndrome
+2 more
GPathogenic
IRF6
(Q160* +1 more)
Single nucleotide variant
(nonsense)
Orofacial cleft 6, susceptibility to
+2 more
GPathogenic
IRF6
(N88S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Orofacial cleft 6, susceptibility to
+2 more
GPathogenic
IRF6
(E254* +1 more)
Single nucleotide variant
(nonsense)
Van der Woude syndrome
+2 more
GPathogenic
IRF6
Single nucleotide variant
(synonymous variant)
Orofacial cleft 6, susceptibility to
+2 more
GUncertain significance
IRF6
(I133T +1 more)
Single nucleotide variant
(missense variant)
Popliteal pterygium syndrome
+2 more
GUncertain significance
IRF6
(L194P +1 more)
Single nucleotide variant
(missense variant)
Popliteal pterygium syndrome
+2 more
GUncertain significance
IRF6
(K14N +1 more)
Single nucleotide variant
(missense variant)
Orofacial cleft 6, susceptibility to
+2 more
GUncertain significance
IRF6
(F274L +1 more)
Single nucleotide variant
(missense variant)
Orofacial cleft 6, susceptibility to
GUncertain significance
IRF6
(V226M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF6
Single nucleotide variant
(synonymous variant)
Orofacial cleft 6, susceptibility to
+2 more
GBenign
IRF6
(E147fs +1 more)
Deletion
(frameshift variant)
Popliteal pterygium syndrome
+2 more
GPathogenic
IRF6
(R155* +1 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
IRF6
(C186* +1 more)
Single nucleotide variant
(nonsense)
Van der Woude syndrome
+2 more
GPathogenic
IRF6
Deletion
Popliteal pterygium syndrome
+2 more
GPathogenic
IRF6
Deletion
Popliteal pterygium syndrome
+2 more
GPathogenic
IRF6
(F57L)
Single nucleotide variant
(missense variant +1 more)
Orofacial cleft 6, susceptibility to
+2 more
GLikely pathogenic
IRF6
Duplication
(5 prime UTR variant +1 more)
Orofacial cleft 6, susceptibility to
+2 more
GUncertain significance
IRF6
(I216T +1 more)
Single nucleotide variant
(missense variant)
Orofacial cleft 6, susceptibility to
+2 more
GUncertain significance
IRF6
(F93L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Van der Woude syndrome
+2 more
GUncertain significance
IRF6
(P285S +1 more)
Single nucleotide variant
(missense variant)
Orofacial cleft 6, susceptibility to
+2 more
GPathogenic
IRF6
(F157V +1 more)
Single nucleotide variant
(missense variant)
Orofacial cleft 6, susceptibility to
+2 more
GUncertain significance
IRF6
(S329A +1 more)
Single nucleotide variant
(missense variant)
Orofacial cleft 6, susceptibility to
+2 more
GUncertain significance
IRF6
(Q178H +1 more)
Single nucleotide variant
(missense variant)
Orofacial cleft 6, susceptibility to
+2 more
GUncertain significance
IRF6
Duplication
(intron variant)
not provided
+1 more
GBenign
IRF6
Single nucleotide variant
(intron variant)
Orofacial cleft 6, susceptibility to
GBenign
IRF6
Single nucleotide variant
(intron variant)
Orofacial cleft 6, susceptibility to
GBenign
IRF6
(F36fs)
Indel
(frameshift variant +1 more)
Van der Woude syndrome
+2 more
GPathogenic
IRF6
(V18M)
Single nucleotide variant
(missense variant +1 more)
Popliteal pterygium syndrome
+2 more
GUncertain significance
IRF6
(D259N +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
IRF6
(Q113* +1 more)
Single nucleotide variant
(nonsense)
Van der Woude syndrome
+2 more
GPathogenic
IRF6
Single nucleotide variant
(intron variant)
Orofacial cleft 6, susceptibility to
+2 more
GUncertain significance
IRF6
(R441C +1 more)
Single nucleotide variant
(missense variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GBenign
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
(M10V +1 more)
Single nucleotide variant
(missense variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(intron variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Van der Woude syndrome 1
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
IRF6
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 6, susceptibility to
+1 more
GUncertain significance
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