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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(M87I)
Single nucleotide variant
(missense variant)
IFAP syndrome 1, with or without BRESHECK syndrome
GPathogenic
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
(H227L)
Single nucleotide variant
(missense variant)
IFAP syndrome 1, with or without BRESHECK syndrome
GPathogenic
MBTPS2
(R429H)
Single nucleotide variant
(missense variant)
IFAP syndrome 1, with or without BRESHECK syndrome
+1 more
GPathogenic
MBTPS2
(F475S)
Single nucleotide variant
(missense variant)
IFAP syndrome 1, with or without BRESHECK syndrome
GPathogenic
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