ClinVar for Gene (Select 8531) - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333632	NM_003651.5(YBX3):c.182C>A (p.Ala61Asp)	LOC130007378, YBX3 (A61D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333631	NM_003651.5(YBX3):c.164A>G (p.Asn55Ser)	LOC130007378, YBX3 (N55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333630	NM_003651.5(YBX3):c.350T>C (p.Phe117Ser)	YBX3 (F117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333629	NM_003651.5(YBX3):c.461C>T (p.Ala154Val)	YBX3 (A154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333628	NM_003651.5(YBX3):c.556C>A (p.Arg186Ser)	YBX3 (R186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191434	NM_003651.5(YBX3):c.979C>T (p.Arg327Cys)	YBX3 (R327C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191433	NM_003651.5(YBX3):c.929A>C (p.Asp310Ala)	YBX3 (D241A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191432	NM_003651.5(YBX3):c.902C>T (p.Pro301Leu)	YBX3 (P301L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191431	NM_003651.5(YBX3):c.892C>G (p.Arg298Gly)	YBX3 (R298G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191430	NM_003651.5(YBX3):c.839C>A (p.Pro280Gln)	YBX3 (P280Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191429	NM_003651.5(YBX3):c.748T>C (p.Ser250Pro)	YBX3 (S250P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191428	NM_003651.5(YBX3):c.701A>G (p.Gln234Arg)	YBX3 (Q234R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191427	NM_003651.5(YBX3):c.577G>A (p.Ala193Thr)	YBX3 (A193T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191425	NM_003651.5(YBX3):c.14G>A (p.Gly5Asp)	YBX3 (G5D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2684668	GRCh37/hg19 12p13.2(chr12:10588512-11788901)x3	KLRC1, KLRC2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2623674	NM_003651.5(YBX3):c.863G>A (p.Arg288His)	YBX3 (R288H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600950	NM_003651.5(YBX3):c.1007G>A (p.Arg336Gln)	YBX3 (R267Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557813	NM_003651.5(YBX3):c.106G>C (p.Val36Leu)	YBX3 (V36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552855	NM_003651.5(YBX3):c.523C>T (p.Arg175Cys)	YBX3 (R175C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547789	NM_003651.5(YBX3):c.942G>C (p.Gln314His)	YBX3 (Q245H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543067	NM_003651.5(YBX3):c.397C>A (p.Arg133Ser)	YBX3 (R133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535455	NM_003651.5(YBX3):c.629C>G (p.Pro210Arg)	YBX3 (P210R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534106	NM_003651.5(YBX3):c.763C>T (p.His255Tyr)	YBX3 (H255Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509228	NM_003651.5(YBX3):c.952A>C (p.Ser318Arg)	YBX3 (S318R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493754	NM_003651.5(YBX3):c.58A>G (p.Thr20Ala)	YBX3 (T20A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488170	NM_003651.5(YBX3):c.659G>A (p.Arg220Gln)	YBX3 (R220Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478714	NM_003651.5(YBX3):c.359A>G (p.Gln120Arg)	YBX3 (Q120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456242	NM_003651.5(YBX3):c.545A>G (p.Tyr182Cys)	YBX3 (Y182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2385282	NM_003651.5(YBX3):c.693G>C (p.Gln231His)	YBX3 (Q231H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375792	NM_003651.5(YBX3):c.16G>A (p.Glu6Lys)	YBX3 (E6K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374661	NM_003651.5(YBX3):c.992G>A (p.Arg331His)	YBX3 (R331H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372155	NM_003651.5(YBX3):c.556C>T (p.Arg186Cys)	YBX3 (R186C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345188	NM_003651.5(YBX3):c.856A>C (p.Thr286Pro)	YBX3 (T217P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344006	NM_003651.5(YBX3):c.1009C>T (p.Arg337Cys)	YBX3 (R337C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325686	NM_003651.5(YBX3):c.184C>G (p.Pro62Ala)	LOC130007378, YBX3 (P62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305668	NM_003651.5(YBX3):c.968C>T (p.Pro323Leu)	YBX3 (P323L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300657	NM_003651.5(YBX3):c.28A>C (p.Thr10Pro)	YBX3 (T10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289775	NM_003651.5(YBX3):c.1019G>A (p.Arg340His)	YBX3 (R271H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284807	NM_003651.5(YBX3):c.215C>G (p.Ser72Cys)	LOC130007378, YBX3 (S72C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283874	NM_003651.5(YBX3):c.568C>T (p.Arg190Trp)	YBX3 (R190W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271395	NM_003651.5(YBX3):c.397C>T (p.Arg133Cys)	YBX3 (R133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269617	NM_003651.5(YBX3):c.839C>T (p.Pro280Leu)	YBX3 (P211L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262424	NM_003651.5(YBX3):c.527G>A (p.Arg176His)	YBX3 (R176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254480	NM_003651.5(YBX3):c.319A>G (p.Ile107Val)	YBX3 (I107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238475	NM_003651.5(YBX3):c.863G>T (p.Arg288Leu)	YBX3 (R219L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235633	NM_003651.5(YBX3):c.125A>C (p.Gln42Pro)	YBX3 (Q42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232564	NM_003651.5(YBX3):c.845A>G (p.His282Arg)	YBX3 (H213R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219063	NM_003651.5(YBX3):c.14G>C (p.Gly5Ala)	YBX3 (G5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	C12orf60, YBX3 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 625596	GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349)	APOLD1, BCL2L14 +47 more	Copy number loss	Multiple endocrine neoplasia type 4	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563981	GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1	APOLD1, BCL2L14 +40 more	Copy number loss	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 83