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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HBB, LOC106099062
+1 more
(E7V +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN JAMAICA PLAIN
Gother
HBB, LOC106099062
+1 more
(E91K +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN S (CAMEROON)
GPathogenic
HBB, LOC106099062
+2 more
(E7V +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN S (TRAVIS)
GPathogenic
HBB, LOC106099062
+1 more
(K83N +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN S (PROVIDENCE)
GPathogenic
HBB, LOC107133510
+2 more
(E122K +1 more)
Single nucleotide variant
(missense variant)
Sickle cell-Hemoglobin O Arab disease
GPathogenic
HBB, LOC106099062
+1 more
(E7V +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN S (ANTILLES)
GPathogenic
HBB, LOC106099062
+1 more
(E7V +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN ZIGUINCHOR
Gother
HBB, LOC106099062
+1 more
(D74N +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN ZIGUINCHOR
Gother
HBB, LOC106099062
+1 more
(E7K +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN ARLINGTON PARK
Gother
HBB, LOC106099062
+1 more
(E7V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+15 more
GPathogenic
HBB, LOC106099062
+1 more
(E7K)
Single nucleotide variant
(missense variant)
Heinz body anemia
+15 more
GPathogenic
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