C1851741[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258958	NM_003126.4(SPTA1):c.7095A>G (p.Ala2365=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 258957	NM_003126.4(SPTA1):c.6794T>C (p.Ile2265Thr)	SPTA1 (I2265T)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 292946	NM_003126.4(SPTA1):c.6789-19dup	SPTA1	Duplication (intron variant)	Pyropoikilocytosis, hereditary +5 more	GBenign/Likely benign
Select item 258955	NM_003126.4(SPTA1):c.6549-12G>A	SPTA1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1222297	NM_003126.4(SPTA1):c.6548+45A>C	SPTA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 258949	NM_003126.4(SPTA1):c.5958C>T (p.Pro1986=)	SPTA1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 3 +4 more	GBenign
Select item 258948	NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)	SPTA1 (L1858V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 258945	NM_003126.4(SPTA1):c.5292C>A (p.Ala1764=)	SPTA1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 3 +4 more	GBenign
Select item 1267153	NM_003126.4(SPTA1):c.5189+35A>C	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +3 more	GBenign
Select item 258942	NM_003126.4(SPTA1):c.4702T>C (p.Cys1568Arg)	SPTA1 (C1568R)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 258935	NM_003126.4(SPTA1):c.4195-12G>A	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +4 more	GBenign
Select item 1253423	NM_003126.4(SPTA1):c.3570-37T>A	SPTA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 258929	NM_003126.4(SPTA1):c.3487T>G (p.Ser1163Ala)	SPTA1 (S1163A)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +4 more	GBenign
Select item 258917	NM_003126.4(SPTA1):c.1350+14A>T	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +4 more	GBenign
Select item 258962	NM_003126.4(SPTA1):c.942T>A (p.Ala314=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 258961	NM_003126.4(SPTA1):c.915T>C (p.Ser305=)	SPTA1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 3 +4 more	GBenign
Select item 258959	NM_003126.4(SPTA1):c.813-7A>T	SPTA1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1270325	NM_003126.4(SPTA1):c.813-45A>G	SPTA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1275640	NM_003126.4(SPTA1):c.264+46T>C	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +3 more	GBenign
Select item 258916	NM_003126.4(SPTA1):c.126C>T (p.Val42=)	SPTA1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 3 +4 more	GBenign
Select item 1182594	NM_003126.4(SPTA1):c.25-25G>T	SPTA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 258920	NM_003126.4(SPTA1):c.24+3A>G	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +4 more	GBenign

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Items: 22