RUNX3[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2311994	NM_004350.3(RUNX3):c.1199C>T (p.Ala400Val)	RUNX3 (A414V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157206	NM_004350.3(RUNX3):c.1148G>A (p.Gly383Asp)	LOC129929724, RUNX3 (G397D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306562	NM_004350.3(RUNX3):c.1147G>A (p.Gly383Ser)	LOC129929724, RUNX3 (G397S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 795881	NM_004350.3(RUNX3):c.1122C>T (p.Gly374=)	RUNX3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2237308	NM_004350.3(RUNX3):c.1114G>A (p.Ala372Thr)	RUNX3 (A386T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157205	NM_004350.3(RUNX3):c.1094C>G (p.Thr365Ser)	RUNX3 (T379S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560012	NM_004350.3(RUNX3):c.914A>G (p.His305Arg)	RUNX3 (H305R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157212	NM_004350.3(RUNX3):c.884C>T (p.Ala295Val)	RUNX3 (A295V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335806	NM_004350.3(RUNX3):c.860C>T (p.Thr287Met)	RUNX3 (T287M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301306	NM_004350.3(RUNX3):c.842G>A (p.Ser281Asn)	RUNX3 (S281N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391842	NM_004350.3(RUNX3):c.790C>G (p.Pro264Ala)	RUNX3 (P264A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157211	NM_004350.3(RUNX3):c.785G>A (p.Arg262His)	RUNX3 (R262H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551878	NM_004350.3(RUNX3):c.769A>G (p.Thr257Ala)	RUNX3 (T271A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601784	NM_004350.3(RUNX3):c.734C>T (p.Pro245Leu)	RUNX3 (P259L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792269	NM_004350.3(RUNX3):c.703+10G>A	RUNX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3157210	NM_004350.3(RUNX3):c.629C>T (p.Pro210Leu)	RUNX3 (P224L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157209	NM_004350.3(RUNX3):c.519C>T (p.Thr173=)	RUNX3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2318073	NM_004350.3(RUNX3):c.316G>A (p.Val106Met)	RUNX3 (V106M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782679	NM_004350.3(RUNX3):c.300C>T (p.Asp100=)	RUNX3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2688389	NM_004350.3(RUNX3):c.283-96G>A	RUNX3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2537396	NM_004350.3(RUNX3):c.203G>T (p.Arg68Leu)	RUNX3 (R82L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157208	NM_004350.3(RUNX3):c.124G>T (p.Val42Leu)	RUNX3 (V42L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157207	NM_004350.3(RUNX3):c.100G>T (p.Gly34Cys)	RUNX3 (G34C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534528	NM_004350.3(RUNX3):c.52C>A (p.Pro18Thr)	RUNX3 (P18T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2688355	NM_004350.3(RUNX3):c.-85C>T	RUNX3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 774578	NM_001031680.2(RUNX3):c.57C>A (p.Arg19=)	RUNX3, RUNX3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2688533	NM_001031680.2(RUNX3):c.53T>A (p.Ile18Asn)	RUNX3, RUNX3-AS1 (I18N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 32