MCTP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057831, LOC130057832 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	ABHD2, ACAN +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC121530602, LOC121530603 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC129390732, LOC129390733 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC126862240, LOC126862241 +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 160924	GRCh38/hg38 15q26.1-26.2(chr15:93198717-94268636)x3	LINC01579, LINC01580 +8 more	Copy number gain	See cases	GUncertain significance
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	LYSMD4, MCTP2 +224 more	Copy number loss	See cases	GPathogenic
Select item 33378	GRCh38/hg38 15q26.1-26.2(chr15:93198717-94268636)x3	LINC01579, LINC01580 +8 more	Copy number gain	See cases	GUncertain significance
Select item 146485	GRCh38/hg38 15q26.1-26.2(chr15:93425301-94423186)x3	LINC01579, LINC01580 +7 more	Copy number gain	See cases	GUncertain significance
Select item 155620	GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1	ADAMTS17, ALDH1A3 +205 more	Copy number loss	See cases	GPathogenic
Select item 148939	GRCh38/hg38 15q26.2(chr15:94005151-95597885)x1	LETR1, LINC00924 +12 more	Copy number loss	See cases	GUncertain significance
Select item 57195	GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	ADAMTS17, ALDH1A3 +218 more	Copy number gain	See cases	GPathogenic
Select item 2287856	NM_001385001.1(MCTP2):c.19T>C (p.Ser7Pro)	MCTP2 (S7P)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2600394	NM_001385001.1(MCTP2):c.53C>T (p.Pro18Leu)	MCTP2 (P18L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2221754	NM_001385001.1(MCTP2):c.63C>G (p.Ile21Met)	MCTP2 (I21M)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3039959	NM_001385001.1(MCTP2):c.116G>A (p.Arg39Gln)	MCTP2 (R39Q)	Single nucleotide variant (missense variant +3 more)	MCTP2-related disorder	GLikely benign
Select item 709916	NM_001385001.1(MCTP2):c.117G>A (p.Arg39=)	MCTP2	Single nucleotide variant (synonymous variant +3 more)	MCTP2-related disorder +1 more	GBenign
Select item 744094	NM_001385001.1(MCTP2):c.137G>A (p.Arg46His)	MCTP2 (R46H)	Single nucleotide variant (missense variant +3 more)	MCTP2-related disorder +1 more	GLikely benign
Select item 3124495	NM_001385001.1(MCTP2):c.139C>T (p.Arg47Cys)	MCTP2 (R47C)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 737223	NM_001385001.1(MCTP2):c.140G>A (p.Arg47His)	MCTP2 (R47H)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 716017	NM_001385001.1(MCTP2):c.178G>A (p.Ala60Thr)	MCTP2 (A60T)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GBenign
Select item 708180	NM_001385001.1(MCTP2):c.207C>T (p.Ser69=)	MCTP2	Single nucleotide variant (synonymous variant +3 more)	MCTP2-related disorder +1 more	GBenign/Likely benign
Select item 3124501	NM_001385001.1(MCTP2):c.212C>G (p.Pro71Arg)	MCTP2 (P71R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 710711	NM_001385001.1(MCTP2):c.231G>A (p.Ser77=)	MCTP2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 713289	NM_001385001.1(MCTP2):c.239del (p.Ser80fs)	MCTP2 (S80fs)	Deletion (frameshift variant +3 more)	not provided	GLikely benign
Select item 2379102	NM_001385001.1(MCTP2):c.242G>A (p.Ser81Asn)	MCTP2 (S81N)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2525750	NM_001385001.1(MCTP2):c.282C>G (p.Ser94Arg)	MCTP2 (S94R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 744044	NM_001385001.1(MCTP2):c.294G>A (p.Gln98=)	MCTP2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2290439	NM_001385001.1(MCTP2):c.329C>G (p.Ala110Gly)	MCTP2 (A110G)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 747214	NM_001385001.1(MCTP2):c.367G>A (p.Ala123Thr)	MCTP2 (A123T)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 2510908	NM_001385001.1(MCTP2):c.368C>A (p.Ala123Asp)	MCTP2 (P10T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2469244	NM_001385001.1(MCTP2):c.373G>A (p.Ala125Thr)	MCTP2 (M11I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2515789	NM_001385001.1(MCTP2):c.395G>A (p.Arg132Gln)	MCTP2 (G19R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2356614	NM_001385001.1(MCTP2):c.405C>G (p.Ser135Arg)	MCTP2 (S135R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3043017	NM_001385001.1(MCTP2):c.408C>T (p.Asn136=)	MCTP2 (T23M)	Single nucleotide variant (synonymous variant +3 more)	MCTP2-related disorder	GLikely benign
Select item 3124511	NM_001385001.1(MCTP2):c.440G>T (p.Gly147Val)	MCTP2 (E34* +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 743017	NM_001385001.1(MCTP2):c.453A>G (p.Pro151=)	MCTP2 (Q38R)	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GBenign/Likely benign
Select item 2499633	GRCh38/hg38 15q26.2(chr15:94302663-94352488)	MCTP2	Copy number loss	See cases	GUncertain significance
Select item 2552821	NM_001385001.1(MCTP2):c.527C>G (p.Ser176Cys)	MCTP2 (S82C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371548	NM_001385001.1(MCTP2):c.539A>C (p.Glu180Ala)	MCTP2 (E14A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 730267	NM_001385001.1(MCTP2):c.564C>T (p.Leu188=)	MCTP2	Single nucleotide variant (synonymous variant +1 more)	MCTP2-related disorder +1 more	GLikely benign
Select item 3124512	NM_001385001.1(MCTP2):c.571C>A (p.Pro191Thr)	MCTP2 (P97T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 787966	NM_001385001.1(MCTP2):c.579G>A (p.Ala193=)	MCTP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 754454	NM_001385001.1(MCTP2):c.579G>C (p.Ala193=)	MCTP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 728407	NM_001385001.1(MCTP2):c.608G>A (p.Gly203Asp)	MCTP2 (G203D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2354179	NM_001385001.1(MCTP2):c.632G>A (p.Arg211His)	MCTP2 (R117H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 146367	GRCh38/hg38 15q26.2(chr15:94324551-94470012)x1	MCTP2	Copy number loss	See cases	GLikely benign
Select item 786280	NM_001385001.1(MCTP2):c.642A>G (p.Thr214=)	MCTP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2558016	NM_001385001.1(MCTP2):c.680C>T (p.Thr227Met)	MCTP2 (T133M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2391128	NM_001385001.1(MCTP2):c.697G>A (p.Val233Ile)	MCTP2 (V67I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2635679	NM_001385001.1(MCTP2):c.725G>A (p.Trp242Ter)	MCTP2 (W148* +2 more)	Single nucleotide variant (nonsense +1 more)	MCTP2-related disorder	GUncertain significance
Select item 2264924	NM_001385001.1(MCTP2):c.739G>A (p.Val247Ile)	MCTP2 (V247I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392198	NM_001385001.1(MCTP2):c.886G>C (p.Asp296His)	MCTP2 (D130H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 725527	NM_001385001.1(MCTP2):c.910A>C (p.Met304Leu)	MCTP2 (M304L +2 more)	Single nucleotide variant (missense variant +1 more)	MCTP2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3124513	NM_001385001.1(MCTP2):c.922G>C (p.Val308Leu)	MCTP2 (V214L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395132	NM_001385001.1(MCTP2):c.922G>A (p.Val308Met)	MCTP2 (V142M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 745832	NM_001385001.1(MCTP2):c.939A>G (p.Leu313=)	MCTP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3051066	NM_001385001.1(MCTP2):c.949C>T (p.Gln317Ter)	MCTP2 (Q151* +2 more)	Single nucleotide variant (nonsense +1 more)	MCTP2-related disorder	GUncertain significance
Select item 736862	NM_001385001.1(MCTP2):c.970-10A>G	MCTP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3124514	NM_001385001.1(MCTP2):c.997G>A (p.Ala333Thr)	MCTP2 (A167T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 748458	NM_001385001.1(MCTP2):c.1008C>T (p.Ser336=)	MCTP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2344270	NM_001385001.1(MCTP2):c.1018C>T (p.Arg340Cys)	MCTP2 (R340C +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 781178	NM_001385001.1(MCTP2):c.1019G>A (p.Arg340His)	MCTP2 (R340H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 2295736	NM_001385001.1(MCTP2):c.1027C>T (p.Arg343Trp)	MCTP2 (R249W +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 778104	NM_001385001.1(MCTP2):c.1028G>A (p.Arg343Gln)	MCTP2 (R343Q +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2619189	NM_001385001.1(MCTP2):c.1079T>C (p.Ile360Thr)	MCTP2 (I194T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2317111	NM_001385001.1(MCTP2):c.1094G>A (p.Gly365Glu)	MCTP2 (G271E +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2377519	NM_001385001.1(MCTP2):c.1193C>T (p.Pro398Leu)	MCTP2 (P398L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 731413	NM_001385001.1(MCTP2):c.1194G>A (p.Pro398=)	MCTP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2294869	NM_001385001.1(MCTP2):c.1264G>A (p.Gly422Arg)	MCTP2 (G10R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2637374	NM_001385001.1(MCTP2):c.1273A>T (p.Asn425Tyr)	MCTP2 (N13Y +4 more)	Single nucleotide variant (missense variant +1 more)	MCTP2-related disorder	GUncertain significance
Select item 3124494	NM_001385001.1(MCTP2):c.1282C>T (p.His428Tyr)	MCTP2 (H334Y +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 717032	NM_001385001.1(MCTP2):c.1404A>G (p.Thr468=)	MCTP2	Single nucleotide variant (synonymous variant +1 more)	MCTP2-related disorder +1 more	GBenign
Select item 3046528	NM_001385001.1(MCTP2):c.1419C>T (p.Val473=)	MCTP2	Single nucleotide variant (synonymous variant +1 more)	MCTP2-related disorder	GLikely benign
Select item 720835	NM_001385001.1(MCTP2):c.1422C>T (p.Ser474=)	MCTP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2318319	NM_001385001.1(MCTP2):c.1474A>G (p.Ile492Val)	MCTP2 (I398V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2634978	NM_001385001.1(MCTP2):c.1484G>C (p.Arg495Pro)	MCTP2 (R329P +4 more)	Single nucleotide variant (missense variant +1 more)	MCTP2-related disorder	GUncertain significance
Select item 2354546	NM_001385001.1(MCTP2):c.1486T>C (p.Tyr496His)	MCTP2 (Y402H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 713820	NM_001385001.1(MCTP2):c.1488+1G>C	MCTP2	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 734721	NM_001385001.1(MCTP2):c.1524C>T (p.Val508=)	MCTP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 708026	NM_001385001.1(MCTP2):c.1557A>C (p.Ala519=)	MCTP2	Single nucleotide variant (synonymous variant +1 more)	MCTP2-related disorder +1 more	GLikely benign
Select item 780008	NM_001385001.1(MCTP2):c.1583-6T>C	MCTP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2548039	NM_001385001.1(MCTP2):c.1619A>G (p.Asn540Ser)	MCTP2 (N374S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 742943	NM_001385001.1(MCTP2):c.1624C>T (p.Arg542Ter)	MCTP2 (R542* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2602589	NM_001385001.1(MCTP2):c.1625G>A (p.Arg542Gln)	MCTP2 (R448Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2443053	NM_001385001.1(MCTP2):c.1630C>T (p.Gln544Ter)	MCTP2 (Q132* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 725924	NM_001385001.1(MCTP2):c.1635G>A (p.Thr545=)	MCTP2	Single nucleotide variant (synonymous variant +1 more)	MCTP2-related disorder +1 more	GLikely benign
Select item 2516072	NM_001385001.1(MCTP2):c.1702C>T (p.His568Tyr)	MCTP2 (H462Y +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312952	NM_001385001.1(MCTP2):c.1813T>A (p.Tyr605Asn)	MCTP2 (Y499N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 736202	NM_001385001.1(MCTP2):c.1815T>C (p.Tyr605=)	MCTP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3047508	NM_001385001.1(MCTP2):c.1818A>G (p.Val606=)	MCTP2	Single nucleotide variant (synonymous variant +1 more)	MCTP2-related disorder	GLikely benign
Select item 2632579	NM_001385001.1(MCTP2):c.1843G>A (p.Ala615Thr)	MCTP2 (A203T +4 more)	Single nucleotide variant (missense variant +1 more)	MCTP2-related disorder	GUncertain significance
Select item 3124496	NM_001385001.1(MCTP2):c.1844C>T (p.Ala615Val)	MCTP2 (A203V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124497	NM_001385001.1(MCTP2):c.1849A>G (p.Lys617Glu)	MCTP2 (K451E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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