ClinVar for Gene (Select 128368) - ClinVar

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Links from Gene

Items: 79

	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 3302464	NM_001004478.2(OR10Z1):c.119C>T (p.Thr40Ile)	OR10Z1 (T40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302463	NM_001004478.2(OR10Z1):c.61G>T (p.Gly21Trp)	OR10Z1 (G21W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302462	NM_001004478.2(OR10Z1):c.709G>A (p.Ala237Thr)	OR10Z1 (A237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302461	NM_001004478.2(OR10Z1):c.710C>A (p.Ala237Asp)	OR10Z1 (A237D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3204670	NM_001004478.2(OR10Z1):c.805G>A (p.Glu269Lys)	OR10Z1 (E269K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204669	NM_001004478.2(OR10Z1):c.772G>A (p.Val258Met)	OR10Z1 (V258M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204668	NM_001004478.2(OR10Z1):c.724G>T (p.Ala242Ser)	OR10Z1 (A242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204667	NM_001004478.2(OR10Z1):c.633C>G (p.Phe211Leu)	OR10Z1 (F211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204666	NM_001004478.2(OR10Z1):c.506G>T (p.Cys169Phe)	OR10Z1 (C169F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204665	NM_001004478.2(OR10Z1):c.122G>A (p.Ser41Asn)	OR10Z1 (S41N)	Single nucleotide variant (missense variant)	not specified	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 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
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 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
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 2569960	NM_001004478.2(OR10Z1):c.761G>A (p.Cys254Tyr)	OR10Z1 (C254Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538830	NM_001004478.2(OR10Z1):c.713T>C (p.Phe238Ser)	OR10Z1 (F238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536647	NM_001004478.2(OR10Z1):c.710C>T (p.Ala237Val)	OR10Z1 (A237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466405	NM_001004478.2(OR10Z1):c.16G>A (p.Val6Ile)	OR10Z1 (V6I)	Single nucleotide variant (missense variant)	not specified	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 2376857	NM_001004478.2(OR10Z1):c.66G>T (p.Glu22Asp)	OR10Z1 (E22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368970	NM_001004478.2(OR10Z1):c.581C>T (p.Pro194Leu)	OR10Z1 (P194L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361937	NM_001004478.2(OR10Z1):c.56G>C (p.Ser19Thr)	OR10Z1 (S19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333024	NM_001004478.2(OR10Z1):c.615G>T (p.Leu205Phe)	OR10Z1 (L205F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2215079	NM_001004478.2(OR10Z1):c.14A>G (p.Asn5Ser)	OR10Z1 (N5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204499	NM_001004478.2(OR10Z1):c.545C>T (p.Pro182Leu)	OR10Z1 (P182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204498	NM_001004478.2(OR10Z1):c.544C>T (p.Pro182Ser)	OR10Z1 (P182S)	Single nucleotide variant (missense variant)	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 1340245	GRCh37/hg19 1q23.1(chr1:158489546-158889411)x1	MNDA, OR10X1 +9 more	Copy number loss	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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
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 814132	GRCh37/hg19 1q23.1(chr1:158489545-158889411)x1	OR10X1, OR10Z1 +9 more	Copy number loss	not provided	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 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 565188	GRCh37/hg19 1q23.1(chr1:158489545-158901383)x1	OR6Y1, OR10Z1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
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
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 79