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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MBTPS2
Microsatellite
(intron variant)
IFAP syndrome 1, with or without BRESHECK syndrome
GUncertain significance
MBTPS2, YY2
Single nucleotide variant
(5 prime UTR variant +1 more)
Olmsted syndrome, X-linked
+3 more
GUncertain significance
MBTPS2
(G176E)
Single nucleotide variant
(missense variant)
Olmsted syndrome, X-linked
+3 more
GUncertain significance
MBTPS2
(E172D)
Single nucleotide variant
(missense variant)
IFAP syndrome 1, with or without BRESHECK syndrome
GUncertain significance
SREBF1
(L530P +9 more)
Single nucleotide variant
(missense variant +2 more)
IFAP syndrome 2
+1 more
GPathogenic
SREBF1
(N504del +9 more)
Deletion
(inframe_deletion +2 more)
IFAP syndrome 2
+1 more
GPathogenic
SREBF1
(R557C +9 more)
Single nucleotide variant
(missense variant +2 more)
IFAP syndrome 2
+2 more
GPathogenic
MBTPS2
(A507V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MBTPS2
(N40T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GJB2
(N176D)
Single nucleotide variant
(missense variant)
IFAP syndrome 1, with or without BRESHECK syndrome
+1 more
GPathogenic/Likely pathogenic
MBTPS2
(I177L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MBTPS2
Single nucleotide variant
(intron variant)
IFAP syndrome 1, with or without BRESHECK syndrome
GPathogenic
MBTPS2
(W226L)
Single nucleotide variant
(missense variant)
IFAP syndrome 1, with or without BRESHECK syndrome
GPathogenic
MBTPS2
(F475S)
Single nucleotide variant
(missense variant)
IFAP syndrome 1, with or without BRESHECK syndrome
GPathogenic
MBTPS2
(R429H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
MBTPS2
(M87I)
Single nucleotide variant
(missense variant)
IFAP syndrome 1, with or without BRESHECK syndrome
GPathogenic
MBTPS2
(H227L)
Single nucleotide variant
(missense variant)
IFAP syndrome 1, with or without BRESHECK syndrome
GPathogenic
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