MCTP1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +435 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	ADGRV1, ARB2A +276 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +274 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +146 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC129994229, LOC129994230 +688 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	LOC129994369, LOC129994370 +495 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	LOC129994289, LOC129994290 +342 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +119 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 +10 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 +41 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 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 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 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 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	ATG12, ATOX1 +385 more	Deletion	Familial adenomatous polyposis 1 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 73