ClinVar for MedGen (Select 5496) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446748	NM_000518.4(HBB):c.[205C>T;20A>T]	HBB, LOC106099062 +1 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN JAMAICA PLAIN	Gother
Select item 446747	NM_000518.4(HBB):c.[20A>T;271G>A]	LOC107133510, HBB +1 more (E91K +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (CAMEROON)	GPathogenic
Select item 446738	NM_000518.4(HBB):c.[20A>T;428C>T]	HBB, LOC106099062 +2 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (TRAVIS)	GPathogenic
Select item 446737	NM_000518.4(HBB):c.[20A>T;249G>Y]	HBB, LOC106099062 +1 more (K83N +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (PROVIDENCE)	GPathogenic
Select item 446736	NM_000518.4(HBB):c.[20A>T;364G>A]	HBB, LOC107133510 +2 more (E122K +1 more)	Single nucleotide variant (missense variant)	Sickle cell-Hemoglobin O Arab disease	GPathogenic
Select item 446735	NM_000518.4(HBB):c.[20A>T;70G>A]	HBB, LOC106099062 +1 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (ANTILLES)	GPathogenic
Select item 446731	NM_000518.4(HBB):c.[176C>G;20A>T]	HBB, LOC106099062 +1 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN ZIGUINCHOR	Gother
Select item 446730	NM_000518.4(HBB):c.[20A>T;220G>A]	HBB, LOC106099062 +1 more (D74N +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN ZIGUINCHOR	Gother
Select item 446729	NM_000518.4(HBB):c.[19G>A;286A>G]	HBB, LOC106099062 +1 more (E7K +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN ARLINGTON PARK	Gother
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	HBB, LOC106099062 +1 more (E7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +15 more	GPathogenic
Select item 15126	NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	HBB, LOC106099062 +1 more (E7K)	Single nucleotide variant (missense variant)	Heinz body anemia +15 more	GPathogenic/Likely pathogenic