C2674219[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257128	NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=)	SPTB	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 257123	NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=)	SPTB	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 2 +4 more	GBenign/Likely benign
Select item 257120	NM_001355436.2(SPTB):c.4563+12G>C	SPTB	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 2 +4 more	GBenign/Likely benign
Select item 257119	NM_001355436.2(SPTB):c.4482G>A (p.Val1494=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +4 more	GBenign/Likely benign
Select item 257118	NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=)	SPTB	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 2 +4 more	GBenign/Likely benign
Select item 1288981	NM_001355436.2(SPTB):c.4474-42C>T	SPTB	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 2 +1 more	GBenign
Select item 257117	NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=)	SPTB	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 2 +4 more	GBenign/Likely benign
Select item 1244503	NM_001355436.2(SPTB):c.4002+26T>C	SPTB	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 2 +1 more	GBenign
Select item 257108	NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp)	SPTB (N1151D)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +4 more	GBenign/Likely benign
Select item 257102	NM_001355436.2(SPTB):c.2154A>C (p.Ile718=)	SPTB	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 257098	NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn)	SPTB (S439N)	Single nucleotide variant (missense variant)	Elliptocytosis +4 more	GBenign/Likely benign
Select item 257097	NM_001355436.2(SPTB):c.1269G>A (p.Leu423=)	SPTB	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 2 +4 more	GBenign/Likely benign
Select item 257138	NM_001355436.2(SPTB):c.876+5A>G	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +4 more	GBenign/Likely benign
Select item 1333114	NM_001355436.2(SPTB):c.648-49G>A	SPTB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1333115	NM_001355436.2(SPTB):c.300+23C>T	SPTB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 257106	NM_001355436.2(SPTB):c.300+7T>C	SPTB	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign