ClinVar for MedGen (Select 98374) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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
Select item 2793329	NM_000252.3(MTM1):c.87A>C (p.Arg29=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2791647	NM_000252.3(MTM1):c.411C>T (p.Leu137=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2789338	NM_000252.3(MTM1):c.1766C>G (p.Pro589Arg)	MTM1 (P589R +2 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2788430	NM_000252.3(MTM1):c.529-5C>T	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2788297	NM_000252.3(MTM1):c.1054-18C>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2788153	NM_000252.3(MTM1):c.450A>G (p.Leu150=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2786075	NM_000252.3(MTM1):c.1158A>G (p.Thr386=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2786002	NM_000252.3(MTM1):c.528+13A>T	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2773135	NM_000252.3(MTM1):c.1329T>C (p.Asp443=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2759703	NM_000252.3(MTM1):c.843C>T (p.Pro281=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2753355	NM_000252.3(MTM1):c.129A>T (p.Leu43=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2753250	NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter)	MTM1 (Y9*)	Single nucleotide variant (nonsense)	Severe X-linked myotubular myopathy	GPathogenic
Select item 2746527	NM_000252.3(MTM1):c.1755C>A (p.Pro585=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2741531	NM_000252.3(MTM1):c.1665G>A (p.Gln555=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2741350	NM_000252.3(MTM1):c.868-14A>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2739907	NM_000252.3(MTM1):c.1468-12G>C	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2739501	NM_000252.3(MTM1):c.784G>A (p.Asp262Asn)	MTM1 (D225N +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2739362	NM_000252.3(MTM1):c.408C>T (p.Ile136=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2738206	NM_000252.3(MTM1):c.1261-20A>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GBenign
Select item 2737396	NM_000252.3(MTM1):c.473del (p.Lys158fs)	MTM1 (K121fs +1 more)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 2733554	NM_000252.3(MTM1):c.787G>A (p.Val263Ile)	MTM1 (V263I +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2733432	NM_000252.3(MTM1):c.396T>C (p.Asp132=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GLikely benign
Select item 2730560	NM_000252.3(MTM1):c.1644+18G>A	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GBenign

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