C0005283[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 15146	NM_000518.4(HBB):c.388G>C (p.Ala130Pro)	HBB, LOC107133510 +1 more (A130P)	Single nucleotide variant (missense variant)	beta Thalassemia	GLikely pathogenic
Select item 15201	NM_000518.5(HBB):c.380T>A (p.Val127Glu)	LOC107133510, LOC110006319 +1 more (V127E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 15417	NM_000518.5(HBB):c.126_129del (p.Phe42fs)	HBB, LOC106099062 +1 more (F42fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +13 more	GPathogenic/Likely pathogenic
Select item 15447	NM_000518.5(HBB):c.92+5G>C	LOC106099062, LOC107133510 +1 more	Single nucleotide variant (intron variant)	Inborn genetic diseases +13 more	GPathogenic
Select item 15436	NM_000518.5(HBB):c.92+1G>A	LOC107133510, HBB +1 more	Single nucleotide variant (splice donor variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic
Select item 15234	NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	HBB, LOC106099062 +1 more (R31T)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
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 15414	NM_000518.5(HBB):c.51del (p.Lys18fs)	LOC106099062, LOC107133510 +1 more (K18fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +13 more	GPathogenic
Select item 15403	NM_000518.5(HBB):c.47G>A (p.Trp16Ter)	HBB, LOC106099062 +1 more (W16*)	Single nucleotide variant (nonsense)	Beta-thalassemia HBB/LCRB +3 more	GPathogenic
Select item 36308	NM_000518.5(HBB):c.27dup (p.Ser10fs)	HBB, LOC106099062 +1 more (S10fs)	Duplication (frameshift variant)	Beta-thalassemia HBB/LCRB +12 more	GConflicting classifications of pathogenicity
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