MCTP1[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +120 more	Copy number gain	See cases	GUncertain significance
Select item 152919	GRCh38/hg38 5q15(chr5:93812177-94727962)x1	ARB2A, KIAA0825 +9 more	Copy number loss	See cases	GUncertain significance
Select item 146352	GRCh38/hg38 5q15(chr5:94169644-95221372)x3	KIAA0825, LOC126807453 +11 more	Copy number gain	See cases	GUncertain significance
Select item 3124486	NM_024717.7(MCTP1):c.2964T>G (p.His988Gln)	MCTP1 (H721Q +14 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124485	NM_024717.7(MCTP1):c.2938C>G (p.Gln980Glu)	MCTP1 (Q686E +14 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621370	NM_024717.7(MCTP1):c.2873T>C (p.Ile958Thr)	MCTP1 (I276T +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124484	NM_024717.7(MCTP1):c.2829G>C (p.Trp943Cys)	MCTP1 (W261C +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545136	NM_024717.7(MCTP1):c.2797T>C (p.Cys933Arg)	MCTP1 (C653R +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716861	NM_024717.7(MCTP1):c.2562G>A (p.Val854=)	MCTP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2324663	NM_024717.7(MCTP1):c.2548C>T (p.Arg850Cys)	MCTP1 (R603C +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124483	NM_024717.7(MCTP1):c.2287A>G (p.Ile763Val)	MCTP1 (I462V +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290234	NM_024717.7(MCTP1):c.2167G>A (p.Val723Ile)	MCTP1 (V458I +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124482	NM_024717.7(MCTP1):c.2119G>A (p.Val707Ile)	MCTP1 (V648I +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557545	NM_024717.7(MCTP1):c.2089C>G (p.Arg697Gly)	MCTP1 (R417G +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768020	NM_024717.7(MCTP1):c.1926C>T (p.Asp642=)	MCTP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2533646	NM_024717.7(MCTP1):c.1897A>G (p.Ile633Val)	MCTP1 (I351V +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601050	NM_024717.7(MCTP1):c.1790T>A (p.Val597Asp)	MCTP1 (V343D +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124480	NM_024717.7(MCTP1):c.1781A>G (p.Asp594Gly)	MCTP1 (D340G +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771381	NM_024717.7(MCTP1):c.1767A>G (p.Thr589=)	MCTP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 150147	GRCh38/hg38 5q15(chr5:94902711-95930059)x3	ARSK, ELL2 +42 more	Copy number gain	See cases	GLikely benign
Select item 2622518	NM_024717.7(MCTP1):c.1571A>G (p.His524Arg)	MCTP1 (H270R +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605805	NM_024717.7(MCTP1):c.1493G>A (p.Arg498Gln)	MCTP1 (R231Q +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293750	NM_024717.7(MCTP1):c.1376C>T (p.Ser459Leu)	MCTP1 (S179L +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293748	NM_024717.7(MCTP1):c.1108C>G (p.His370Asp)	MCTP1 (H164D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485860	NM_024717.7(MCTP1):c.982G>A (p.Val328Ile)	MCTP1 (V328I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124493	NM_024717.7(MCTP1):c.898A>G (p.Ile300Val)	MCTP1 (I300V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124492	NM_024717.7(MCTP1):c.893G>A (p.Ser298Asn)	MCTP1 (S92N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262177	NM_024717.7(MCTP1):c.827G>A (p.Arg276Gln)	MCTP1 (R55Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293746	NM_024717.7(MCTP1):c.775G>A (p.Gly259Arg)	MCTP1 (G259R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286646	NM_024717.7(MCTP1):c.766G>A (p.Ala256Thr)	MCTP1 (A35T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124491	NM_024717.7(MCTP1):c.743C>A (p.Thr248Asn)	MCTP1 (T248N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226396	NM_024717.7(MCTP1):c.709G>C (p.Gly237Arg)	MCTP1 (G237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124490	NM_024717.7(MCTP1):c.614C>T (p.Ala205Val)	MCTP1 (A205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374711	NM_024717.7(MCTP1):c.613G>T (p.Ala205Ser)	MCTP1 (A205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310928	NM_024717.7(MCTP1):c.557G>A (p.Arg186His)	MCTP1 (R186H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2597499	NM_024717.7(MCTP1):c.535G>T (p.Ala179Ser)	MCTP1 (A179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463630	NM_024717.7(MCTP1):c.494C>T (p.Ser165Phe)	MCTP1 (S165F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241046	NM_024717.7(MCTP1):c.481T>G (p.Ser161Ala)	MCTP1 (S161A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309608	NM_024717.7(MCTP1):c.455C>G (p.Ser152Cys)	MCTP1 (S152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124488	NM_024717.7(MCTP1):c.376C>G (p.Arg126Gly)	LOC129994224, MCTP1 (R126G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124487	NM_024717.7(MCTP1):c.322G>C (p.Glu108Gln)	LOC129994224, MCTP1 (E108Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391819	NM_024717.7(MCTP1):c.316C>T (p.Pro106Ser)	LOC129994224, MCTP1 (P106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261916	NM_024717.7(MCTP1):c.287A>C (p.Gln96Pro)	LOC129994224, MCTP1 (Q96P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293749	NM_024717.7(MCTP1):c.254A>G (p.Lys85Arg)	MCTP1 (K85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297739	NM_024717.7(MCTP1):c.210G>T (p.Arg70Ser)	MCTP1 (R70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124481	NM_024717.7(MCTP1):c.178C>T (p.Pro60Ser)	LOC129994225, MCTP1 (P60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293747	NM_024717.7(MCTP1):c.136C>A (p.Pro46Thr)	LOC129994225, MCTP1 (P46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297395	NM_024717.7(MCTP1):c.109G>T (p.Gly37Cys)	MCTP1 (G37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403550	NM_024717.7(MCTP1):c.91G>C (p.Gly31Arg)	MCTP1 (G31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2685163	GRCh37/hg19 5q15(chr5:93750745-94125373)x1	KIAA0825, MCTP1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1808134	GRCh37/hg19 5q15(chr5:93524163-95017463)x3	ARSK, FAM81B +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 1341977	GRCh37/hg19 5q15(chr5:94478206-94864722)x1	FAM81B, MCTP1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 980165	GRCh37/hg19 5q15(chr5:94425603-94862036)x3	MCTP1, FAM81B +1 more	Copy number gain	not provided	GUncertain significance
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 686679	GRCh37/hg19 5q15(chr5:92386982-94865113)x1	FAM172A, FAM81B +6 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563092	GRCh37/hg19 5q15(chr5:93907388-94842440)x3	SLF1, TTC37 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ADAMTS19, ADGRV1 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 253708	GRCh37/hg19 5q15(chr5:94319893-95158593)x3	TTC37, SPATA9 +7 more	Copy number gain	See cases	GUncertain significance
Select item 156978	Single allele	MCTP1	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided

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Items: 78