ClinVar for Gene (Select 55784) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293769	NM_001385001.1(MCTP2):c.191A>C (p.Glu64Ala)	MCTP2 (E64A)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3293768	NM_001385001.1(MCTP2):c.1648A>G (p.Lys550Glu)	MCTP2 (K138E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293765	NM_001385001.1(MCTP2):c.1238T>C (p.Met413Thr)	MCTP2 (M247T +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3293764	NM_001385001.1(MCTP2):c.1637A>G (p.His546Arg)	MCTP2 (H134R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293763	NM_001385001.1(MCTP2):c.5A>T (p.Asp2Val)	MCTP2 (D2V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3293762	NM_001385001.1(MCTP2):c.631C>T (p.Arg211Cys)	MCTP2 (R117C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293761	NM_001385001.1(MCTP2):c.1451C>T (p.Ala484Val)	MCTP2 (A484V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293760	NM_001385001.1(MCTP2):c.616C>G (p.Leu206Val)	MCTP2 (L112V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293759	NM_001385001.1(MCTP2):c.2159A>G (p.Asn720Ser)	MCTP2 (N554S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3293758	NM_001385001.1(MCTP2):c.2134G>A (p.Ala712Thr)	MCTP2 (A546T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3293757	NM_001385001.1(MCTP2):c.1051A>G (p.Asn351Asp)	MCTP2 (N245D +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3293756	NM_001385001.1(MCTP2):c.215A>G (p.Gln72Arg)	MCTP2 (Q72R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3293754	NM_001385001.1(MCTP2):c.1192C>A (p.Pro398Thr)	MCTP2 (P232T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3293753	NM_001385001.1(MCTP2):c.829G>A (p.Val277Ile)	MCTP2 (V111I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293752	NM_001385001.1(MCTP2):c.1568C>T (p.Ala523Val)	MCTP2 (A357V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293751	NM_001385001.1(MCTP2):c.409G>A (p.Gly137Ser)	MCTP2 (G137S)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 3124510	NM_001385001.1(MCTP2):c.2630C>G (p.Ala877Gly)	MCTP2 (A783G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124509	NM_001385001.1(MCTP2):c.2576A>G (p.Tyr859Cys)	MCTP2 (Y765C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124508	NM_001385001.1(MCTP2):c.2449C>T (p.Arg817Trp)	MCTP2 (R596W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124507	NM_001385001.1(MCTP2):c.2435A>G (p.Tyr812Cys)	MCTP2 (Y646C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124506	NM_001385001.1(MCTP2):c.2429T>C (p.Ile810Thr)	MCTP2 (I755T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3124504	NM_001385001.1(MCTP2):c.2377G>A (p.Val793Ile)	MCTP2 (V738I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124503	NM_001385001.1(MCTP2):c.2281A>G (p.Ile761Val)	MCTP2 (I540V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124502	NM_001385001.1(MCTP2):c.2170C>A (p.Pro724Thr)	MCTP2 (P558T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 3124500	NM_001385001.1(MCTP2):c.2101G>C (p.Val701Leu)	MCTP2 (V535L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3124499	NM_001385001.1(MCTP2):c.1987C>T (p.Arg663Cys)	MCTP2 (R497C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124498	NM_001385001.1(MCTP2):c.1909A>T (p.Thr637Ser)	MCTP2 (T637S +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
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 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 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 3063384	GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	ADAMTS17, ALDH1A3 +23 more	Copy number gain	not specified	GPathogenic
Select item 3063383	GRCh37/hg19 15q26.2-26.3(chr15:94300072-101810099)x1	ADAMTS17, ALDH1A3 +16 more	Copy number loss	not specified	GPathogenic
Select item 3057056	NM_001385001.1(MCTP2):c.2472C>T (p.Gly824=)	MCTP2	Single nucleotide variant (synonymous variant +1 more)	MCTP2-related disorder	GBenign
Select item 3055875	NM_001385001.1(MCTP2):c.1966-8A>T	MCTP2	Single nucleotide variant (intron variant)	MCTP2-related disorder	GBenign
Select item 3055474	NM_001385001.1(MCTP2):c.2471-9A>G	MCTP2	Single nucleotide variant (intron variant)	MCTP2-related disorder	GBenign
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 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 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 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 3041557	NM_001385001.1(MCTP2):c.2376G>A (p.Thr792=)	MCTP2	Single nucleotide variant (synonymous variant +1 more)	MCTP2-related disorder	GLikely benign
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 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 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 2635434	NM_001385001.1(MCTP2):c.1971A>T (p.Leu657Phe)	MCTP2 (L245F +4 more)	Single nucleotide variant (missense variant +1 more)	MCTP2-related disorder	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 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 2630780	NM_001385001.1(MCTP2):c.2189G>A (p.Ser730Asn)	MCTP2 (S564N +2 more)	Single nucleotide variant (missense variant +2 more)	MCTP2-related disorder	GUncertain significance
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 2617693	NM_001385001.1(MCTP2):c.2289G>A (p.Met763Ile)	MCTP2 (M542I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617383	NM_001385001.1(MCTP2):c.2381C>A (p.Pro794His)	MCTP2 (P628H +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2601684	NM_001385001.1(MCTP2):c.2615G>A (p.Arg872Gln)	MCTP2 (R858Q +6 more)	Single nucleotide variant (missense variant +1 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 2592923	NM_001385001.1(MCTP2):c.2156A>G (p.Tyr719Cys)	MCTP2 (Y553C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2591385	NM_001385001.1(MCTP2):c.2123T>C (p.Met708Thr)	MCTP2 (M614T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 2513500	NM_001385001.1(MCTP2):c.2320G>A (p.Val774Ile)	MCTP2 (V760I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2499633	GRCh38/hg38 15q26.2(chr15:94302663-94352488)	MCTP2	Copy number loss	See cases	GUncertain significance
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2491623	NM_001385001.1(MCTP2):c.2567A>G (p.Lys856Arg)	MCTP2 (K762R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484968	NM_001385001.1(MCTP2):c.2235G>C (p.Glu745Asp)	MCTP2 (E704D +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2469949	NM_001385001.1(MCTP2):c.1874A>G (p.Asp625Gly)	MCTP2 (D213G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469852	NM_001385001.1(MCTP2):c.2602C>G (p.His868Asp)	MCTP2 (H647D +6 more)	Single nucleotide variant (missense variant +1 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 2461067	NM_001385001.1(MCTP2):c.2072C>T (p.Thr691Ile)	MCTP2 (T279I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2443071	NM_001385001.1(MCTP2):c.2427del (p.Ile810fs)	MCTP2 (I589fs +6 more)	Deletion (frameshift variant +1 more)	not provided	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 2410290	NM_001385001.1(MCTP2):c.2585T>C (p.Leu862Ser)	MCTP2 (L807S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408580	NM_001385001.1(MCTP2):c.1881A>G (p.Ile627Met)	MCTP2 (I461M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396662	NM_001385001.1(MCTP2):c.2450G>A (p.Arg817Gln)	MCTP2 (R723Q +6 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 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 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 2386409	NM_001385001.1(MCTP2):c.1949G>A (p.Arg650His)	MCTP2 (R238H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2377416	NM_001385001.1(MCTP2):c.1879A>T (p.Ile627Leu)	MCTP2 (I521L +4 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 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 2356028	NM_001385001.1(MCTP2):c.2614C>T (p.Arg872Trp)	MCTP2 (R872W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 2344473	NM_001385001.1(MCTP2):c.1988G>A (p.Arg663His)	MCTP2 (R251H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2342401	NM_001385001.1(MCTP2):c.2410C>G (p.Leu804Val)	MCTP2 (L790V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328368	NM_001385001.1(MCTP2):c.2170C>T (p.Pro724Ser)	MCTP2 (P724S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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

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