ClinVar for Gene (Select 128368) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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_001004478.2(OR10Z1):c.*4012G>A	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 condition	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)	SPTA1, OR10Z1	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_001004478.2(OR10Z1):c.*4340T>C	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	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 876839	NM_003126.4(SPTA1):c.7198G>T (p.Gly2400Cys)	SPTA1, OR10Z1 (G2400C)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +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)	SPTA1, OR10Z1 (T2413S)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 875791	NM_003126.4(SPTA1):c.*319C>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 874858	NM_003126.4(SPTA1):c.*341T>G	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 874857	NM_003126.4(SPTA1):c.*379G>A	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 873913	NM_003126.4(SPTA1):c.*387T>C	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +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)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 873911	NM_003126.4(SPTA1):c.*509G>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +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)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 292934	NM_003126.4(SPTA1):c.*68C>G	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Pyropoikilocytosis, hereditary +2 more	GConflicting classifications of pathogenicity
Select item 292933	NM_003126.4(SPTA1):c.97_98insATGTGT	OR10Z1, SPTA1	Insertion (3 prime UTR variant)	Pyropoikilocytosis, hereditary +2 more	GUncertain significance
Select item 292932	NM_001004478.2(OR10Z1):c.*3753AC[14]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Elliptocytosis +2 more	GUncertain significance
Select item 292931	NM_001004478.2(OR10Z1):c.*3753AC[15]	SPTA1, OR10Z1	Microsatellite (3 prime UTR variant)	Elliptocytosis +2 more	GUncertain significance
Select item 292930	NM_001004478.2(OR10Z1):c.*3753AC[16]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Elliptocytosis +2 more	GUncertain significance
Select item 292929	NM_001004478.2(OR10Z1):c.*3753AC[23]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Elliptocytosis +2 more	GUncertain significance
Select item 292928	NM_001004478.2(OR10Z1):c.*3753AC[21]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Elliptocytosis +2 more	GUncertain significance
Select item 292927	NM_001004478.2(OR10Z1):c.*3753AC[20]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Elliptocytosis +2 more	GUncertain significance
Select item 292926	NM_001004478.2(OR10Z1):c.*3753AC[18]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Elliptocytosis +2 more	GUncertain significance
Select item 292925	NM_003126.4(SPTA1):c.*133C>T	SPTA1, OR10Z1	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)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 292923	NM_003126.4(SPTA1):c.*167A>G	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +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)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 292920	NM_003126.4(SPTA1):c.*295C>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 292919	NM_003126.4(SPTA1):c.*296G>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 292918	NM_003126.4(SPTA1):c.*323T>C	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 292917	NM_003126.4(SPTA1):c.*500del	SPTA1, OR10Z1	Deletion (3 prime UTR variant)	Elliptocytosis +2 more	GLikely benign
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 73