ClinVar for Gene (Select 4534) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383626	NM_000252.3(MTM1):c.1338G>A (p.Trp446Ter)	MTM1 (W409* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3375320	NC_000023.10:g.(149828958_149831905)_(149841617_?)dup	MTM1	Duplication	not specified	GUncertain significance
Select item 3370845	NM_000252.3(MTM1):c.799A>T (p.Thr267Ser)	MTM1 (T230S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3359294	NM_000252.3(MTM1):c.402dup (p.Glu135Ter)	MTM1 (E135* +1 more)	Duplication (nonsense)	not provided	GPathogenic
Select item 3347708	NM_000252.3(MTM1):c.142G>T (p.Glu48Ter)	MTM1 (E48*)	Single nucleotide variant (nonsense)	MTM1-related disorder	GPathogenic
Select item 3346218	NM_000252.3(MTM1):c.1145C>T (p.Thr382Ile)	MTM1 (T345I +1 more)	Single nucleotide variant (missense variant)	MTM1-related disorder	GUncertain significance
Select item 3338827	NM_000252.3(MTM1):c.1314dup (p.Leu439fs)	MTM1 (L402fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3335990	NM_000252.3(MTM1):c.722G>A (p.Arg241His)	MTM1 (R204H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296661	NM_000252.3(MTM1):c.910G>A (p.Ala304Thr)	MTM1 (A267T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296659	NM_000252.3(MTM1):c.202T>A (p.Tyr68Asn)	MTM1 (Y68N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255018	NM_000252.3(MTM1):c.1371del (p.Glu457fs)	MTM1 (E420fs +1 more)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 3252575	NM_000252.3(MTM1):c.1444T>C (p.Cys482Arg)	MTM1 (C445R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251250	NM_000252.3(MTM1):c.1069G>C (p.Ala357Pro)	MTM1 (A320P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243944	NC_000023.10:g.(?_149767036)_(149787632_?)del	MTM1	Deletion	Severe X-linked myotubular myopathy	GPathogenic
Select item 3243933	NC_000023.10:g.(?_149613783)_(149767170_?)del	MAMLD1, MTM1	Deletion	Severe X-linked myotubular myopathy	GPathogenic
Select item 3243921	NC_000023.10:g.(?_149613783)_(149840068_?)del	MAMLD1, MTM1	Deletion	Severe X-linked myotubular myopathy	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3239809	NM_000252.3(MTM1):c.1696G>T (p.Glu566Ter)	MTM1 (E529* +2 more)	Single nucleotide variant (nonsense)	Severe X-linked myotubular myopathy	GLikely pathogenic
Select item 3237190	NM_000252.3(MTM1):c.919_923del (p.Phe307fs)	MTM1 (F270fs +1 more)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GLikely pathogenic
Select item 3235226	NM_000252.3(MTM1):c.232-1G>C	MTM1	Single nucleotide variant (splice acceptor variant +1 more)	Severe X-linked myotubular myopathy	GPathogenic
Select item 3215625	NM_000252.3(MTM1):c.472A>G (p.Lys158Glu)	MTM1 (K121E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215597	NM_000252.3(MTM1):c.1768T>A (p.Ser590Thr)	MTM1 (S589T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3052675	NM_000252.3(MTM1):c.490_493dup (p.Thr165fs)	MTM1 (T128fs +1 more)	Microsatellite (frameshift variant)	MTM1-related disorder	GPathogenic
Select item 3027044	NM_000252.3(MTM1):c.785A>C (p.Asp262Ala)	MTM1 (D225A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 3023833	NM_000252.3(MTM1):c.414G>A (p.Thr138=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GBenign
Select item 3022117	NM_000252.3(MTM1):c.1261-18C>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 3020960	NM_000252.3(MTM1):c.528+18_528+22dup	MTM1	Duplication (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 3018956	NM_000252.3(MTM1):c.1728C>A (p.Leu576=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 3017692	NM_000252.3(MTM1):c.1649C>T (p.Pro550Leu)	MTM1 (P550L +2 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GUncertain significance
Select item 3017417	NM_000252.3(MTM1):c.342+19_342+22del	MTM1	Deletion (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 3006131	NM_000252.3(MTM1):c.1468-12_1468-11del	MTM1	Deletion (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 3001897	NM_000252.3(MTM1):c.1468-12G>T	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2999874	NM_000252.3(MTM1):c.1756C>T (p.Pro586Ser)	MTM1 (P549S +2 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2995695	NM_000252.3(MTM1):c.528+13A>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2992698	NM_000252.3(MTM1):c.16A>G (p.Thr6Ala)	MTM1 (T6A)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2990655	NM_000252.3(MTM1):c.1049T>C (p.Ile350Thr)	MTM1 (I313T +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GUncertain significance
Select item 2989375	NM_000252.3(MTM1):c.342+12G>A	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2989162	NM_000252.3(MTM1):c.972G>A (p.Val324=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2978802	NM_000252.3(MTM1):c.74A>G (p.Asp25Gly)	MTM1 (D25G)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GUncertain significance
Select item 2963359	NM_000252.3(MTM1):c.1261-15C>T	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2962198	NM_000252.3(MTM1):c.136+11G>C	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2957159	NM_000252.3(MTM1):c.1354-19_1354-16del	MTM1	Microsatellite (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2920995	NM_000252.3(MTM1):c.114del (p.Pro39fs)	MTM1 (P39fs)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GLikely pathogenic
Select item 2920027	NM_000252.3(MTM1):c.137-11del	MTM1	Deletion (intron variant)	Severe X-linked myotubular myopathy	GBenign
Select item 2919865	NM_000252.3(MTM1):c.1053+14G>T	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2918731	NM_000252.3(MTM1):c.6T>G (p.Ala2=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2916459	NM_000252.3(MTM1):c.1645-17T>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2916141	NM_000252.3(MTM1):c.232-11G>T	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2914696	NM_000252.3(MTM1):c.1468-18_1468-13del	MTM1	Microsatellite (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2913102	NM_000252.3(MTM1):c.1748C>T (p.Ser583Phe)	MTM1 (S546F +2 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GUncertain significance
Select item 2912739	NM_000252.3(MTM1):c.1179G>A (p.Leu393=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2911349	NM_000252.3(MTM1):c.83A>G (p.Asn28Ser)	MTM1 (N28S)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GUncertain significance
Select item 2908465	NM_000252.3(MTM1):c.63+21del	MTM1	Deletion (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2903186	NM_000252.3(MTM1):c.1468-12G>A	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2901553	NM_000252.3(MTM1):c.868-11T>C	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2900475	NM_000252.3(MTM1):c.678+9T>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2897569	NM_000252.3(MTM1):c.996A>G (p.Val332=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2895638	NM_000252.3(MTM1):c.1645-17T>A	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2894253	NM_000252.3(MTM1):c.136+14G>A	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2893321	NM_000252.3(MTM1):c.528+18A>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2892881	NM_000252.3(MTM1):c.1467+24del	MTM1	Deletion (intron variant)	Severe X-linked myotubular myopathy	GBenign
Select item 2890476	NM_000252.3(MTM1):c.342+19T>C	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2888580	NM_000252.3(MTM1):c.1353+4A>C	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GUncertain significance
Select item 2887347	NM_000252.3(MTM1):c.63+16A>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2886279	NM_000252.3(MTM1):c.1261-21_1261-16del	MTM1	Deletion (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2883634	NM_000252.3(MTM1):c.640C>T (p.Arg214Trp)	MTM1 (R177W +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GUncertain significance
Select item 2883259	NM_000252.3(MTM1):c.369G>A (p.Leu123=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2882860	NM_000252.3(MTM1):c.466G>A (p.Glu156Lys)	MTM1 (E119K +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2882197	NM_000252.3(MTM1):c.445-12dup	MTM1	Duplication (intron variant)	Severe X-linked myotubular myopathy	GBenign
Select item 2880942	NM_000252.3(MTM1):c.529-9dup	MTM1	Duplication (intron variant)	Severe X-linked myotubular myopathy	GBenign
Select item 2877864	NM_000252.3(MTM1):c.156A>G (p.Ile52Met)	MTM1 (I52M)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GUncertain significance
Select item 2870588	NM_000252.3(MTM1):c.560T>C (p.Phe187Ser)	MTM1 (F150S +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GUncertain significance
Select item 2868816	NM_000252.3(MTM1):c.636C>T (p.Asp212=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2856720	NM_000252.3(MTM1):c.520A>G (p.Arg174Gly)	MTM1 (R137G +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GUncertain significance
Select item 2855248	NM_000252.3(MTM1):c.1645-19A>C	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2853811	NM_000252.3(MTM1):c.1627C>A (p.Pro543Thr)	MTM1 (P506T +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GUncertain significance
Select item 2850246	NM_000252.3(MTM1):c.894T>C (p.Asp298=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2845383	NM_000252.3(MTM1):c.483G>A (p.Val161=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2841695	NM_000252.3(MTM1):c.1608T>C (p.Asn536=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2841038	NM_000252.3(MTM1):c.99G>A (p.Glu33=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2839209	NM_000252.3(MTM1):c.804_805del (p.Asn268fs)	MTM1 (N268fs +1 more)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 2833460	NM_000252.3(MTM1):c.1054-4T>C	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2831986	NM_000252.3(MTM1):c.504T>C (p.Asn168=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2829488	NM_000252.3(MTM1):c.1323T>C (p.Phe441=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2829076	NM_000252.3(MTM1):c.1053+8T>C	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2823184	NM_000252.3(MTM1):c.600T>G (p.Ala200=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2821184	NM_000252.3(MTM1):c.1436_1437insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCTGGTACTTTCTT (p.Phe478_Leu479insPhePhePhePhePhePhePheXaaXaaXaaXaaSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGlyThrPhe)	MTM1	Insertion (inframe_insertion)	Severe X-linked myotubular myopathy	GPathogenic
Select item 2820290	NM_000252.3(MTM1):c.1054-6dup	MTM1	Duplication (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2816903	NM_000252.3(MTM1):c.675T>C (p.Ile225=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2813751	NM_000252.3(MTM1):c.528+10dup	MTM1	Duplication (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2812205	NM_000252.3(MTM1):c.444+19C>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2808148	NM_000252.3(MTM1):c.679-19C>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2806721	NM_000252.3(MTM1):c.6T>C (p.Ala2=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2793853	NM_000252.3(MTM1):c.1047T>C (p.His349=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign

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