"Natera, Inc."[submitter] AND "HBA1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 439771	NM_000517.6(HBA2):c.369C>G (p.His123Gln)	HBA1, HBA2 +1 more (H123Q)	Single nucleotide variant (missense variant)	alpha Thalassemia +4 more	GUncertain significance
Select item 15624	NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)	HBA1, HBA2 +1 more	Single nucleotide variant (stop lost)	not provided +1 more	GPathogenic
Select item 439102	NM_000558.5(HBA1):c.-42C>T	LOC106804613, HBA1	Single nucleotide variant	not provided	GBenign/Likely benign
Select item 439096	NM_000558.5(HBA1):c.-24C>G	HBA1, LOC106804613	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 15765	NM_000558.5(HBA1):c.17C>A (p.Ala6Asp)	HBA1, LOC106804613 (A6D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15822	NM_000558.3(HBA1):c.20A>G (p.Asp7Gly)	HBA1, LOC106804613 (D7G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439106	NM_000558.5(HBA1):c.95+39C>T	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 993349	NM_000558.5(HBA1):c.150C>A (p.Ser50Arg)	HBA1, LOC106804613 (S50R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15849	NM_000558.3(HBA1):c.179G>A (p.Gly60Asp)	LOC106804613, HBA1 (G60D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 618153	NM_000558.5(HBA1):c.187del (p.Val63fs)	HBA1, LOC106804613 (V63fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 15803	NM_000558.3(HBA1):c.193G>C (p.Asp65His)	HBA1, LOC106804613 (D65H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811124	NM_000558.5(HBA1):c.198G>A (p.Ala66=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 990364	NM_000558.5(HBA1):c.257A>T (p.Asp86Val)	HBA1, LOC106804613 (D86V)	Single nucleotide variant (missense variant)	alpha Thalassemia	GUncertain significance
Select item 439768	NM_000558.5(HBA1):c.300+55G>T	LOC106804613, HBA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 990365	NM_000558.5(HBA1):c.301-9T>C	HBA1, LOC106804613	Single nucleotide variant (intron variant)	alpha Thalassemia	GUncertain significance
Select item 15745	NM_000558.5(HBA1):c.337C>G (p.His113Asp)	HBA1, LOC106804613 (H113D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15793	NM_000558.3(HBA1):c.349G>A (p.Glu117Lys)	HBA1, LOC106804613 (E117K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 811900	NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)	HBA1, LOC106804613 (P120S)	Single nucleotide variant (missense variant)	Heinz body anemia +5 more	GPathogenic
Select item 15798	NM_000558.5(HBA1):c.364G>A (p.Val122Met)	HBA1, LOC106804613 (V122M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 15865	NM_000558.3(HBA1):c.389T>C (p.Leu130Pro)	HBA1, LOC106804613 (L130P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 439101	NM_000558.5(HBA1):c.396T>C (p.Ser132=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 439094	NM_000558.5(HBA1):c.*46C>A	HBA1, LOC106804613	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign/Likely benign

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Items: 22