Related gene-specific medical variations for Gene (Select 128368) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379979	NM_003126.4(SPTA1):c.7163G>A (p.Cys2388Tyr)	OR10Z1, SPTA1 (C2388Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3169486	NM_003126.4(SPTA1):c.7135G>A (p.Ala2379Thr)	OR10Z1, SPTA1 (A2379T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2739646	NM_003126.4(SPTA1):c.7162T>C (p.Cys2388Arg)	OR10Z1, SPTA1 (C2388R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2693041	NM_003126.4(SPTA1):c.7180C>T (p.Gln2394Ter)	OR10Z1, SPTA1 (Q2394*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2690088	NM_003126.4(SPTA1):c.7135-3C>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2690080	NM_003126.4(SPTA1):c.7241A>G (p.Asn2414Ser)	OR10Z1, SPTA1 (N2414S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2683188	NM_003126.4(SPTA1):c.7199del (p.Gly2400fs)	OR10Z1, SPTA1 (G2400fs)	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2632185	NM_003126.4(SPTA1):c.7139T>C (p.Leu2380Pro)	OR10Z1, SPTA1 (L2380P)	Single nucleotide variant (3 prime UTR variant +1 more)	SPTA1-related disorder	GUncertain significance
Select item 2436367	NM_003126.4(SPTA1):c.7250T>C (p.Phe2417Ser)	OR10Z1, SPTA1 (F2417S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2436357	NM_003126.4(SPTA1):c.7252_7258del (p.Gly2418fs)	OR10Z1, SPTA1 (G2418fs)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2433811	NM_003126.4(SPTA1):c.7135-1G>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2433795	NM_003126.4(SPTA1):c.7201C>T (p.Arg2401Ter)	OR10Z1, SPTA1 (R2401*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2284392	NM_003126.4(SPTA1):c.7201C>G (p.Arg2401Gly)	OR10Z1, SPTA1 (R2401G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1705950	NM_003126.4(SPTA1):c.7135_7137delinsTATAAATGACA (p.Ala2379delinsTyrLysTer)	OR10Z1, SPTA1	Indel (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1694056	NM_003126.4(SPTA1):c.7189G>A (p.Asp2397Asn)	OR10Z1, SPTA1 (D2397N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1234162	NM_003126.4(SPTA1):c.7135-331A>G	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1163164	NM_003126.4(SPTA1):c.7181_7182del (p.Gln2394fs)	OR10Z1, SPTA1 (Q2394fs)	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 876839	NM_003126.4(SPTA1):c.7198G>T (p.Gly2400Cys)	OR10Z1, SPTA1 (G2400C)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 875845	NM_003126.4(SPTA1):c.7228G>A (p.Val2410Ile)	OR10Z1, SPTA1 (V2410I)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +3 more	GUncertain significance
Select item 875844	NM_003126.4(SPTA1):c.7237A>T (p.Thr2413Ser)	OR10Z1, SPTA1 (T2413S)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 875791	NM_003126.4(SPTA1):c.*319C>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 874858	NM_003126.4(SPTA1):c.*341T>G	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 874857	NM_003126.4(SPTA1):c.*379G>A	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 873913	NM_003126.4(SPTA1):c.*387T>C	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 873912	NM_003126.4(SPTA1):c.*420T>A	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 873911	NM_003126.4(SPTA1):c.*509G>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 811737	NM_003126.4(SPTA1):c.7183T>C (p.Tyr2395His)	OR10Z1, SPTA1 (Y2395H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 292935	NM_003126.4(SPTA1):c.*39G>A	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 292934	NM_003126.4(SPTA1):c.*68C>G	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +2 more	GConflicting classifications of pathogenicity
Select item 292933	NM_003126.4(SPTA1):c.97_98insATGTGT	OR10Z1, SPTA1	Insertion (3 prime UTR variant)	Spherocytosis, Recessive +3 more	GUncertain significance
Select item 292932	NM_003126.4(SPTA1):c.*99TG[14]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Spherocytosis, Recessive +3 more	GUncertain significance
Select item 292931	NM_003126.4(SPTA1):c.*99TG[15]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Spherocytosis, Recessive +2 more	GUncertain significance
Select item 292930	NM_003126.4(SPTA1):c.*99TG[16]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Spherocytosis, Recessive +2 more	GUncertain significance
Select item 292929	NM_003126.4(SPTA1):c.*99TG[23]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Spherocytosis, Recessive +2 more	GUncertain significance
Select item 292928	NM_003126.4(SPTA1):c.*99TG[21]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Spherocytosis, Recessive +2 more	GUncertain significance
Select item 292927	NM_003126.4(SPTA1):c.*99TG[20]	SPTA1, OR10Z1	Microsatellite (3 prime UTR variant)	Spherocytosis, Recessive +2 more	GUncertain significance
Select item 292926	NM_003126.4(SPTA1):c.*99TG[18]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Spherocytosis, Recessive +2 more	GUncertain significance
Select item 292925	NM_003126.4(SPTA1):c.*133C>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 292924	NM_003126.4(SPTA1):c.*134T>G	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 292923	NM_003126.4(SPTA1):c.*167A>G	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 292922	NM_003126.4(SPTA1):c.*276T>C	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +3 more	GBenign
Select item 292921	NM_003126.4(SPTA1):c.*294A>G	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 292920	NM_003126.4(SPTA1):c.*295C>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +3 more	GBenign
Select item 292919	NM_003126.4(SPTA1):c.*296G>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Pyropoikilocytosis, hereditary +2 more	GUncertain significance
Select item 292918	NM_003126.4(SPTA1):c.*323T>C	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Pyropoikilocytosis, hereditary +2 more	GUncertain significance
Select item 292917	NM_003126.4(SPTA1):c.*500del	OR10Z1, SPTA1	Deletion (3 prime UTR variant)	Spherocytosis, Recessive +2 more	GLikely benign

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Links from Gene

Items: 46