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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFL1
(L615I +2 more)
Single nucleotide variant
(missense variant +1 more)
Shwachman-Diamond syndrome 2
GUncertain significance
EFL1
(M1040L +2 more)
Single nucleotide variant
(missense variant +1 more)
Shwachman-Diamond syndrome 2
GUncertain significance
EFL1
(H30R)
Single nucleotide variant
(missense variant +2 more)
Shwachman-Diamond syndrome 2
GPathogenic
EFL1
(G564fs +2 more)
Duplication
(frameshift variant +1 more)
Shwachman-Diamond syndrome 2
GPathogenic
EFL1
(T1069A +2 more)
Single nucleotide variant
(missense variant +1 more)
Shwachman-Diamond syndrome 2
GPathogenic
EFL1
(C620G +1 more)
Single nucleotide variant
(missense variant +1 more)
Shwachman-Diamond syndrome 2
GPathogenic
EFL1
(F242S +1 more)
Single nucleotide variant
(missense variant +1 more)
Shwachman-Diamond syndrome 2
GPathogenic
EFL1
(R491* +1 more)
Single nucleotide variant
(nonsense +1 more)
Shwachman-Diamond syndrome 2
GPathogenic
EFL1
Single nucleotide variant
(synonymous variant +1 more)
Shwachman-Diamond syndrome 2
+1 more
GLikely benign
EFL1
(L212V +1 more)
Single nucleotide variant
(missense variant +2 more)
Shwachman-Diamond syndrome 2
+1 more
GUncertain significance
EFL1
Single nucleotide variant
(intron variant)
Shwachman-Diamond syndrome 2
GBenign
EFL1
Single nucleotide variant
(intron variant)
Shwachman-Diamond syndrome 2
GBenign
EFL1
(E215D +2 more)
Single nucleotide variant
(missense variant +1 more)
Shwachman-Diamond syndrome 2
+1 more
GBenign
EFL1
Single nucleotide variant
(synonymous variant +1 more)
Shwachman-Diamond syndrome 2
+1 more
GBenign
EFL1
(I479V +2 more)
Single nucleotide variant
(missense variant +1 more)
Shwachman-Diamond syndrome 2
+1 more
GUncertain significance
EFL1
(E498K +2 more)
Single nucleotide variant
(missense variant +1 more)
Shwachman-Diamond syndrome 2
GUncertain significance
EFL1
(P956T +2 more)
Single nucleotide variant
(missense variant +1 more)
Shwachman-Diamond syndrome 2
GUncertain significance
EFL1
(R707C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
EFL1
(H657Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Shwachman-Diamond syndrome 2
GUncertain significance
EFL1
(I411N +2 more)
Single nucleotide variant
(missense variant +1 more)
Shwachman-Diamond syndrome 2
+1 more
GUncertain significance
EFL1
(T127A +1 more)
Single nucleotide variant
(missense variant +2 more)
Shwachman-Diamond syndrome 2
GLikely pathogenic
EFL1
(R1095Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Shwachman-Diamond syndrome 2
+1 more
GConflicting classifications of pathogenicity
EFL1
(M882K +2 more)
Single nucleotide variant
(missense variant +1 more)
Shwachman-Diamond syndrome 2
GPathogenic
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