RUNX1T1[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000602, LOC130000603 +470 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 60381	GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1	C8orf88, CDH17 +72 more	Copy number loss	See cases	GPathogenic
Select item 2616751	NM_175634.3(RUNX1T1):c.1739T>C (p.Met580Thr)	RUNX1T1 (M580T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058834	NM_175634.3(RUNX1T1):c.1737G>A (p.Pro579=)	RUNX1T1	Single nucleotide variant (synonymous variant)	RUNX1T1-related disorder	GLikely benign
Select item 725597	NM_175634.3(RUNX1T1):c.1566G>A (p.Ala522=)	RUNX1T1	Single nucleotide variant (synonymous variant)	RUNX1T1-related disorder +1 more	GBenign/Likely benign
Select item 3041693	NM_175634.3(RUNX1T1):c.1473C>T (p.Ala491=)	RUNX1T1	Single nucleotide variant (synonymous variant)	RUNX1T1-related disorder	GLikely benign
Select item 2316708	NM_175634.3(RUNX1T1):c.1429G>A (p.Asp477Asn)	RUNX1T1 (D450N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743236	NM_175634.3(RUNX1T1):c.1401C>T (p.Ala467=)	RUNX1T1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776363	NM_175634.3(RUNX1T1):c.1356C>T (p.Ala452=)	RUNX1T1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2401016	NM_175634.3(RUNX1T1):c.1293A>T (p.Glu431Asp)	RUNX1T1 (E404D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035332	NM_175634.3(RUNX1T1):c.1280-6dup	RUNX1T1	Duplication (intron variant)	RUNX1T1-related disorder	GLikely benign
Select item 2507565	NM_175634.3(RUNX1T1):c.1219G>A (p.Gly407Ser)	RUNX1T1 (G370S +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2248185	NM_175634.3(RUNX1T1):c.1181G>A (p.Arg394Gln)	RUNX1T1 (R405Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785257	NM_175634.3(RUNX1T1):c.1165T>C (p.Leu389=)	RUNX1T1	Single nucleotide variant (synonymous variant)	RUNX1T1-related disorder +1 more	GBenign
Select item 784134	NM_175634.3(RUNX1T1):c.1077+7C>T	RUNX1T1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2209754	NM_175634.3(RUNX1T1):c.989T>C (p.Met330Thr)	RUNX1T1 (M330T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281246	NM_175634.3(RUNX1T1):c.841G>A (p.Gly281Ser)	RUNX1T1 (G254S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053818	NM_175634.3(RUNX1T1):c.840C>T (p.Asn280=)	RUNX1T1	Single nucleotide variant (synonymous variant)	RUNX1T1-related disorder	GBenign
Select item 710209	NM_175634.3(RUNX1T1):c.828C>T (p.Tyr276=)	RUNX1T1	Single nucleotide variant (synonymous variant)	RUNX1T1-related disorder +1 more	GBenign/Likely benign
Select item 3157201	NM_175634.3(RUNX1T1):c.775C>T (p.His259Tyr)	RUNX1T1 (H270Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286609	NM_175634.3(RUNX1T1):c.718G>T (p.Gly240Trp)	RUNX1T1 (G299W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339283	NM_175634.3(RUNX1T1):c.715A>C (p.Asn239His)	RUNX1T1 (N212H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339286	NM_175634.3(RUNX1T1):c.693G>C (p.Glu231Asp)	RUNX1T1 (E204D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033200	NM_175634.3(RUNX1T1):c.597C>T (p.Cys199=)	RUNX1T1	Single nucleotide variant (synonymous variant)	RUNX1T1-related disorder	GLikely benign
Select item 719616	NM_175634.3(RUNX1T1):c.465A>G (p.Leu155=)	RUNX1T1	Single nucleotide variant (synonymous variant)	RUNX1T1-related disorder +1 more	GBenign/Likely benign
Select item 2529760	NM_175634.3(RUNX1T1):c.366A>C (p.Gln122His)	RUNX1T1 (Q150H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589499	NM_175634.3(RUNX1T1):c.319T>A (p.Ser107Thr)	RUNX1T1 (S107T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157199	NM_175634.3(RUNX1T1):c.296A>G (p.Asn99Ser)	RUNX1T1 (N72S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658687	NM_175634.3(RUNX1T1):c.273C>T (p.Pro91=)	RUNX1T1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2479635	NM_175634.3(RUNX1T1):c.238A>G (p.Thr80Ala)	RUNX1T1 (T60A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 638625	NM_175635.3(RUNX1T1):c.127A>C (p.Thr43Pro)	RUNX1T1 (T43P +6 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 3045604	NM_175634.3(RUNX1T1):c.226+10C>T	RUNX1T1	Single nucleotide variant (intron variant)	RUNX1T1-related disorder	GLikely benign
Select item 599590	NM_175634.3(RUNX1T1):c.177_178insT (p.Pro60fs)	RUNX1T1 (P119fs +6 more)	Insertion (frameshift variant)	Short stature	GPathogenic
Select item 2355718	NM_175634.3(RUNX1T1):c.140C>T (p.Thr47Met)	RUNX1T1 (T20M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157198	NM_175634.3(RUNX1T1):c.92G>T (p.Arg31Leu)	RUNX1T1 (R31L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300179	NM_175634.3(RUNX1T1):c.-86+7770C>T	RUNX1T1 (S69F +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3157197	NM_175634.3(RUNX1T1):c.-86+7763G>A	RUNX1T1 (E36K +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2365440	NM_175634.3(RUNX1T1):c.-86+7487T>C	RUNX1T1 (L33P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3157200	NM_175634.3(RUNX1T1):c.-86+7441A>G	RUNX1T1 (N18D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685316	GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1	ATP6V0D2, CALB1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563522	GRCh37/hg19 8q21.3-22.1(chr8:91914994-93365750)x1	RUNX1T1, OTUD6B +4 more	Copy number loss	not provided	GUncertain significance
Select item 563506	GRCh37/hg19 8q21.3(chr8:92378841-93053423)x1	RUNX1T1, SLC26A7	Copy number loss	not provided	GUncertain significance
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic

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Items: 74