8028[geneid] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 150847	GRCh38/hg38 10p12.31(chr10:20964970-22049554)x3	C10orf113, DNAJC1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 146066	GRCh38/hg38 10p12.31(chr10:21125825-21721227)x3	C10orf113, LINC02643 +20 more	Copy number gain	See cases	GUncertain significance
Select item 2342297	NM_001195626.3(MLLT10):c.46C>T (p.His16Tyr)	LOC130003473, MLLT10 (H16Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2640346	NM_001195626.3(MLLT10):c.99C>T (p.Gly33=)	LOC130003473, MLLT10	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3055784	NM_001195626.3(MLLT10):c.195G>A (p.Pro65=)	MLLT10	Single nucleotide variant (synonymous variant +2 more)	MLLT10-related disorder	GBenign
Select item 3038919	NM_001195626.3(MLLT10):c.240+17954A>T	MLLT10 (D155V)	Single nucleotide variant (3 prime UTR variant +2 more)	MLLT10-related disorder	GBenign
Select item 2275054	NM_001195626.3(MLLT10):c.272C>G (p.Ala91Gly)	MLLT10 (A91G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3042783	NM_001195626.3(MLLT10):c.297T>C (p.Gly99=)	MLLT10	Single nucleotide variant (synonymous variant +2 more)	MLLT10-related disorder	GLikely benign
Select item 3050487	NM_001195626.3(MLLT10):c.406-11_406-10del	MLLT10	Deletion (intron variant)	MLLT10-related disorder	GBenign
Select item 2274036	NM_001195626.3(MLLT10):c.455G>C (p.Gly152Ala)	MLLT10 (G152A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2550383	NM_001195626.3(MLLT10):c.510C>T (p.Cys170=)	MLLT10	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3037162	NM_001195626.3(MLLT10):c.705T>C (p.Tyr235=)	MLLT10	Single nucleotide variant (synonymous variant +2 more)	MLLT10-related disorder	GLikely benign
Select item 3205952	NM_001195626.3(MLLT10):c.825A>G (p.Ile275Met)	MLLT10 (I275M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603337	NM_001195626.3(MLLT10):c.892T>C (p.Ser298Pro)	MLLT10 (S298P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218914	NM_001195626.3(MLLT10):c.949G>A (p.Gly317Arg)	MLLT10 (G317R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039949	NM_001195626.3(MLLT10):c.1052-14_1052-10del	MLLT10	Deletion (intron variant)	MLLT10-related disorder	GLikely benign
Select item 2275053	NM_001195626.3(MLLT10):c.1094G>T (p.Gly365Val)	MLLT10 (G120V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204643	NM_001195626.3(MLLT10):c.1097G>A (p.Ser366Asn)	MLLT10 (S121N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025663	NM_001195626.3(MLLT10):c.1140A>G (p.Ser380=)	MLLT10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3050599	NM_001195626.3(MLLT10):c.1200T>C (p.His400=)	MLLT10	Single nucleotide variant (synonymous variant +1 more)	MLLT10-related disorder	GLikely benign
Select item 1034103	NM_001195626.3(MLLT10):c.1226G>C (p.Gly409Ala)	MLLT10 (G164A +1 more)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2457969	NM_001195626.3(MLLT10):c.1228G>A (p.Gly410Arg)	MLLT10 (G410R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204700	NM_001195626.3(MLLT10):c.1318T>G (p.Leu440Val)	MLLT10 (L195V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410702	NM_001195626.3(MLLT10):c.1336C>T (p.Pro446Ser)	MLLT10 (P446S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204758	NM_001195626.3(MLLT10):c.1343C>T (p.Ala448Val)	MLLT10 (A203V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512541	NM_001195626.3(MLLT10):c.1426C>A (p.His476Asn)	LOC124403920, MLLT10 (H231N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204821	NM_001195626.3(MLLT10):c.1565T>G (p.Leu522Trp)	LOC124403920, MLLT10 (L522W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040443	NM_001195626.3(MLLT10):c.1622-4A>G	MLLT10	Single nucleotide variant (intron variant)	MLLT10-related disorder	GLikely benign
Select item 2282630	NM_001195626.3(MLLT10):c.1672T>G (p.Ser558Ala)	MLLT10 (S558A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204885	NM_001195626.3(MLLT10):c.1706A>G (p.Tyr569Cys)	MLLT10 (Y324C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347139	NM_001195626.3(MLLT10):c.1715A>G (p.Asn572Ser)	MLLT10 (N572S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401669	NM_001195626.3(MLLT10):c.1727T>C (p.Val576Ala)	MLLT10 (V331A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777646	NM_001195626.3(MLLT10):c.1731G>A (p.Ser577=)	MLLT10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2278021	NM_001195626.3(MLLT10):c.1778G>A (p.Ser593Asn)	MLLT10 (S348N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544123	NM_001195626.3(MLLT10):c.1868C>G (p.Ala623Gly)	MLLT10 (A639G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222010	NM_001195626.3(MLLT10):c.1870A>G (p.Thr624Ala)	MLLT10 (T624A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307424	NM_001195626.3(MLLT10):c.1873A>G (p.Thr625Ala)	MLLT10 (T641A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034963	NM_001195626.3(MLLT10):c.1897T>A (p.Ser633Thr)	MLLT10 (S388T +2 more)	Single nucleotide variant (missense variant +1 more)	MLLT10-related disorder	GLikely benign
Select item 2457410	NM_001195626.3(MLLT10):c.1946C>T (p.Ser649Leu)	MLLT10 (S404L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 723315	NM_001195626.3(MLLT10):c.1991-7A>G	MLLT10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3055555	NM_001195626.3(MLLT10):c.1991-4A>G	MLLT10	Single nucleotide variant (intron variant)	MLLT10-related disorder	GLikely benign
Select item 2306910	NM_001195626.3(MLLT10):c.2039C>T (p.Ser680Leu)	MLLT10 (S435L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546437	NM_001195626.3(MLLT10):c.2087T>C (p.Ile696Thr)	MLLT10 (I451T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048925	NM_001195626.3(MLLT10):c.2090G>A (p.Arg697His)	MLLT10 (R452H +2 more)	Single nucleotide variant (missense variant +1 more)	MLLT10-related disorder	GLikely benign
Select item 3205189	NM_001195626.3(MLLT10):c.2134G>T (p.Val712Leu)	MLLT10 (V467L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315546	NM_001195626.3(MLLT10):c.2308C>T (p.Arg770Trp)	MLLT10 (R770W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205253	NM_001195626.3(MLLT10):c.2353A>G (p.Ile785Val)	MLLT10 (I785V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205281	NM_001195626.3(MLLT10):c.2419G>A (p.Asp807Asn)	MLLT10 (D562N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601615	NM_001195626.3(MLLT10):c.2467C>T (p.Pro823Ser)	MLLT10 (P578S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528172	NM_001195626.3(MLLT10):c.2468C>T (p.Pro823Leu)	MLLT10 (P823L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612117	NM_001195626.3(MLLT10):c.2516A>G (p.Gln839Arg)	MLLT10 (Q839R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295034	NM_001195626.3(MLLT10):c.2549C>T (p.Pro850Leu)	MLLT10 (P850L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357430	NM_001195626.3(MLLT10):c.2588G>T (p.Gly863Val)	MLLT10 (G863V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265352	NM_001195626.3(MLLT10):c.2657C>G (p.Thr886Ser)	MLLT10 (T641S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232240	NM_001195626.3(MLLT10):c.2689G>A (p.Gly897Arg)	MLLT10 (G913R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563230	NM_001195626.3(MLLT10):c.2763G>C (p.Gln921His)	MLLT10 (Q676H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055376	NM_001195626.3(MLLT10):c.2943A>G (p.Gln981=)	MLLT10	Single nucleotide variant (synonymous variant +1 more)	MLLT10-related disorder	GLikely benign
Select item 2508729	NM_001195626.3(MLLT10):c.2961A>T (p.Gln987His)	MLLT10 (Q987H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2515227	NM_001195626.3(MLLT10):c.2973T>G (p.Phe991Leu)	MLLT10 (F746L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2512614	NM_001195626.3(MLLT10):c.2976G>C (p.Leu992Phe)	MLLT10 (L992F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3205697	NM_001195626.3(MLLT10):c.3043G>A (p.Gly1015Arg)	MLLT10 (G770R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489472	NM_001195626.3(MLLT10):c.3115A>T (p.Asn1039Tyr)	MLLT10 (N794Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357773	NM_001195626.3(MLLT10):c.3157G>A (p.Val1053Ile)	MLLT10 (V808I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3205791	NM_001195626.3(MLLT10):c.3166C>T (p.Leu1056Phe)	MLLT10 (L811F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3205822	NM_001195626.3(MLLT10):c.3190G>T (p.Ala1064Ser)	MLLT10 (A1064S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 686574	GRCh37/hg19 10p12.31(chr10:19774176-22330966)x1	C10orf113, DNAJC1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442597	GRCh37/hg19 10p12.31-12.2(chr10:21881989-23129991)x3	BMI1, COMMD3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic

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Items: 79