C0700299[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 15152	NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	LOC110006319, LOC107133510 +1 more (E122Q)	Single nucleotide variant (missense variant)	Hemoglobin D disease +5 more	GPathogenic/Likely pathogenic
Select item 15489	NM_000518.5(HBB):c.262A>C (p.Thr88Pro)	HBB, LOC106099062 +1 more (T88P)	Single nucleotide variant (missense variant)	not specified +10 more	GBenign/Likely benign
Select item 15138	NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	LOC107133510, HBB +1 more (G70S)	Single nucleotide variant (missense variant)	Methemoglobinemia, beta-globin type +11 more	GConflicting classifications of pathogenicity
Select item 15450	NM_000518.5(HBB):c.92+6T>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	Inborn genetic diseases +12 more	GConflicting classifications of pathogenicity
Select item 15161	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	HBB, LOC106099062 +1 more (E27K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +15 more	GPathogenic
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	LOC106099062, LOC107133510 +1 more (E7V)	Single nucleotide variant (missense variant)	not provided +16 more	GPathogenic
Select item 15126	NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	LOC106099062, LOC107133510 +1 more (E7K)	Single nucleotide variant (missense variant)	HBB-related condition +16 more	GPathogenic
Select item 15469	NM_000518.5(HBB):c.-79A>G	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +11 more	GPathogenic