ClinVar for Gene (Select 6403) - ClinVar

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Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317268	NM_003005.4(SELP):c.1286G>T (p.Arg429Leu)	SELP (R429L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317267	NM_003005.4(SELP):c.2020G>T (p.Ala674Ser)	SELP (A674S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317266	NM_003005.4(SELP):c.390C>G (p.Asp130Glu)	SELP (D130E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317265	NM_003005.4(SELP):c.737C>T (p.Ala246Val)	SELP (A246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317264	NM_003005.4(SELP):c.1139C>A (p.Thr380Asn)	SELP (T380N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250705	NM_003005.4(SELP):c.1285C>A (p.Arg429=)	SELP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3159683	NM_003005.4(SELP):c.955T>C (p.Cys319Arg)	SELP (C319R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159682	NM_003005.4(SELP):c.824G>T (p.Cys275Phe)	SELP (C275F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159680	NM_003005.4(SELP):c.58A>G (p.Ile20Val)	SELP (I20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159679	NM_003005.4(SELP):c.2272G>T (p.Val758Leu)	SELP (V758L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159678	NM_003005.4(SELP):c.2039G>A (p.Gly680Glu)	SELP (G680E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159677	NM_003005.4(SELP):c.1628G>A (p.Gly543Glu)	SELP (G543E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159676	NM_003005.4(SELP):c.1570G>A (p.Val524Ile)	SELP (V524I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3159675	NM_003005.4(SELP):c.1276G>A (p.Asp426Asn)	SELP (D426N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3060479	NM_003005.4(SELP):c.992G>A (p.Ser331Asn)	SELP (S331N)	Single nucleotide variant (missense variant)	SELP-related disorder	GBenign
Select item 3059830	NM_003005.4(SELP):c.2346G>A (p.Thr782=)	SELP	Single nucleotide variant (synonymous variant)	SELP-related disorder	GBenign
Select item 3059039	NM_003005.4(SELP):c.1807G>A (p.Asp603Asn)	SELP (D603N)	Single nucleotide variant (missense variant)	SELP-related disorder	GBenign
Select item 3056728	NM_003005.4(SELP):c.1794C>T (p.Cys598=)	SELP	Single nucleotide variant (synonymous variant)	SELP-related disorder	GBenign
Select item 3056507	NM_003005.4(SELP):c.1918G>T (p.Val640Leu)	SELP (V640L)	Single nucleotide variant (missense variant)	SELP-related disorder	GBenign
Select item 3055528	NM_003005.4(SELP):c.1812C>T (p.Asn604=)	SELP	Single nucleotide variant (synonymous variant)	SELP-related disorder	GBenign
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2623107	NM_003005.4(SELP):c.1483A>C (p.Thr495Pro)	SELP (T495P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617308	NM_003005.4(SELP):c.1223A>G (p.Tyr408Cys)	SELP (Y408C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608363	NM_003005.4(SELP):c.2465C>T (p.Thr822Ile)	SELP (T822I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591207	NM_003005.4(SELP):c.1964G>A (p.Cys655Tyr)	SELP (C655Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568791	NM_003005.4(SELP):c.1372C>T (p.Arg458Trp)	SELP (R458W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560013	NM_003005.4(SELP):c.2119C>G (p.Leu707Val)	SELP (L707V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553264	NM_003005.4(SELP):c.674A>G (p.Gln225Arg)	SELP (Q225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547566	NM_003005.4(SELP):c.2365G>A (p.Gly789Arg)	SELP (G789R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520961	NM_003005.4(SELP):c.1010G>A (p.Cys337Tyr)	SELP (C337Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508976	NM_003005.4(SELP):c.1123T>G (p.Ser375Ala)	SELP (S375A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488388	NM_003005.4(SELP):c.461A>G (p.Lys154Arg)	SELP (K154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486744	NM_003005.4(SELP):c.1746C>G (p.Ser582Arg)	SELP (S582R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470432	NM_003005.4(SELP):c.410A>G (p.Lys137Arg)	SELP (K137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462811	NM_003005.4(SELP):c.2036T>C (p.Ile679Thr)	SELP (I679T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459133	NM_003005.4(SELP):c.187C>T (p.Arg63Cys)	SELP (R63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409464	NM_003005.4(SELP):c.2020G>A (p.Ala674Thr)	SELP (A674T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396865	NM_003005.4(SELP):c.1765C>T (p.Arg589Cys)	SELP (R589C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384728	NM_003005.4(SELP):c.1100G>A (p.Arg367His)	SELP (R367H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382441	NM_003005.4(SELP):c.697G>A (p.Gly233Arg)	SELP (G233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376478	NM_003005.4(SELP):c.2071C>A (p.Gln691Lys)	SELP (Q691K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371506	NM_003005.4(SELP):c.2365G>T (p.Gly789Trp)	SELP (G789W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363826	NM_003005.4(SELP):c.2483C>T (p.Pro828Leu)	SELP (P828L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355161	NM_003005.4(SELP):c.1922A>G (p.Gln641Arg)	SELP (Q641R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354836	NM_003005.4(SELP):c.1564A>T (p.Thr522Ser)	SELP (T522S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353433	NM_003005.4(SELP):c.1123T>C (p.Ser375Pro)	SELP (S375P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343397	NM_003005.4(SELP):c.1244G>A (p.Arg415His)	SELP (R415H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338556	NM_003005.4(SELP):c.934T>G (p.Trp312Gly)	SELP (W312G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313636	NM_003005.4(SELP):c.1265T>A (p.Leu422Gln)	SELP (L422Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285965	NM_003005.4(SELP):c.2123A>C (p.His708Pro)	SELP (H708P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258109	NM_003005.4(SELP):c.1142G>A (p.Cys381Tyr)	SELP (C381Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255462	NM_003005.4(SELP):c.581G>A (p.Cys194Tyr)	SELP (C194Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235415	NM_003005.4(SELP):c.1735G>A (p.Glu579Lys)	SELP (E579K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226788	NM_003005.4(SELP):c.232T>C (p.Tyr78His)	SELP (Y78H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 992522	NM_003005.4(SELP):c.1879C>A (p.Pro627Thr)	SELP (P627T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992521	NM_003005.4(SELP):c.1499C>T (p.Ser500Phe)	SELP (S500F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992519	NM_003005.4(SELP):c.479C>T (p.Thr160Ile)	SELP (T160I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 979306	GRCh37/hg19 1q24.2(chr1:169499658-169558108)x1	F5, SELP	Copy number loss	not provided	GUncertain significance
Select item 814139	GRCh37/hg19 1q24.2(chr1:169148346-169806006)x1	C1orf112, NME7 +8 more	Copy number loss	not provided	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 782395	NM_003005.4(SELP):c.2018A>G (p.Asn673Ser)	SELP (N673S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782081	NM_003005.4(SELP):c.384C>T (p.Asn128=)	SELP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780277	NM_003005.4(SELP):c.821C>T (p.Thr274Ile)	SELP (T274I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777955	NM_003005.4(SELP):c.1855T>G (p.Ser619Ala)	SELP (S619A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775624	NM_003005.4(SELP):c.1334-3T>C	SELP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775623	NM_003005.4(SELP):c.2301T>C (p.Thr767=)	SELP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 755657	NM_003005.4(SELP):c.2352T>G (p.Gly784=)	SELP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738809	NM_003005.4(SELP):c.2019C>T (p.Asn673=)	SELP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 626017	NM_003005.4(SELP):c.985G>A (p.Ala329Thr)	SELP (A329T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 626016	NM_003005.4(SELP):c.1195T>C (p.Cys399Arg)	SELP (C399R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 626015	NM_003005.4(SELP):c.1366G>T (p.Glu456Ter)	SELP (E456*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
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 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 180693	NM_003005.4(SELP):c.775+1G>A	SELP	Single nucleotide variant (splice donor variant)	Premature coronary artery atherosclerosis	GLikely pathogenic
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 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 60047	GRCh38/hg38 1q24.2(chr1:169623984-169744043)x1	LOC129931896, LOC129931897 +4 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 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
Select item 13528	NM_003005.4(SELP):c.1918G>C (p.Val640Leu)	SELP (V640L)	Single nucleotide variant (missense variant)	SELECTIN P POLYMORPHISM	GBenign
Select item 13527	NM_003005.4(SELP):c.2266A>C (p.Thr756Pro)	SELP (T756P)	Single nucleotide variant (missense variant)	not provided	GBenign

ClinVar

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Links from Gene

Items: 93