C0002312[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 15451	NM_000518.5(HBB):c.316-3C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 36303	NM_000518.5(HBB):c.203_204del (p.Val68fs)	LOC106099062, LOC107133510 +1 more (V68fs)	Deletion (frameshift variant)	Heinz body anemia +10 more	GPathogenic
Select item 15415	NM_000518.5(HBB):c.135del (p.Phe46fs)	HBB, LOC106099062 +1 more (F46fs)	Deletion (frameshift variant)	Erythrocytosis, familial, 6 +10 more	GPathogenic/Likely pathogenic
Select item 15437	NM_000518.5(HBB):c.92+1G>T	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	Erythrocytosis, familial, 6 +11 more	GPathogenic/Likely pathogenic
Select item 15422	NM_000518.5(HBB):c.17_18del (p.Pro6fs)	HBB, LOC106099062 +1 more (P6fs)	Deletion (frameshift variant)	beta Thalassemia +10 more	GPathogenic
Select item 15470	NM_000518.5(HBB):c.-78A>C	HBB, LOC106099062 +1 more	Single nucleotide variant	Erythrocytosis, familial, 6 +10 more	GPathogenic
Select item 36285	NM_000518.5(HBB):c.-137C>A	HBB, LOC106099062 +1 more	Single nucleotide variant	Heinz body anemia +12 more	GPathogenic/Likely pathogenic
Select item 393701	NM_000518.5(HBB):c.-138C>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +10 more	GPathogenic/Likely pathogenic
Select item 15461	NC_000011.10:g.5227172G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	Erythrocytosis, familial, 6 +10 more	GPathogenic
Select item 487442	NC_000016.10:g.(?_151209)_(182142_?)del	HBA-LCR, HBA1 +8 more	Deletion	alpha Thalassemia	GPathogenic
Select item 487448	NC_000016.10:g.(?_169780)_(182142_?)del	HBA1, HBA2 +5 more	Deletion	alpha Thalassemia	GPathogenic
Select item 433555	Single allele	HBA1, HBA2 +2 more	Deletion	alpha Thalassemia	GPathogenic