"GeneDx"[submitter] AND "MTM1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 57991	GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1	AFF2, ATP11C +135 more	Copy number loss	See cases	GPathogenic
Select item 60396	GRCh38/hg38 Xq28(chrX:150449408-150750615)x3	LOC130068796, LOC130068797 +8 more	Copy number gain	See cases	GUncertain significance
Select item 1703406	NC_000023.11:g.150568509C>T	LOC130068796, MTM1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 388221	NM_000252.3(MTM1):c.-48G>C	LOC130068796, MTM1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 389855	NM_000252.3(MTM1):c.-24G>T	LOC130068796, MTM1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1691156	NM_000252.3(MTM1):c.-11+51C>T	LOC130068796, MTM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 152903	GRCh38/hg38 Xq28(chrX:150574214-150838596)x2	CD99L2, LOC130068798 +7 more	Copy number gain	See cases	GUncertain significance
Select item 1251658	NM_000252.3(MTM1):c.-10-328A>G	MTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209394	NM_000252.3(MTM1):c.-10-248C>T	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679960	NM_000252.3(MTM1):c.-10-152=	MTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1082470	NM_000252.3(MTM1):c.38C>T (p.Ser13Phe)	MTM1 (S13F)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy +2 more	GConflicting classifications of pathogenicity
Select item 265397	NM_000252.3(MTM1):c.49G>T (p.Glu17Ter)	MTM1 (E17*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 511111	NM_000252.3(MTM1):c.63+7del	MTM1	Deletion (intron variant)	Severe X-linked myotubular myopathy +1 more	GBenign/Likely benign
Select item 1202768	NM_000252.3(MTM1):c.63+183dup	MTM1	Duplication (intron variant)	not provided	GLikely benign
Select item 1215631	NM_000252.3(MTM1):c.63+252C>T	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205661	NM_000252.3(MTM1):c.64-198A>G	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265752	NM_000252.3(MTM1):c.64-50A>T	MTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 158992	NM_000252.3(MTM1):c.64-14T>C	MTM1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 92678	NM_000252.3(MTM1):c.70C>T (p.Arg24Ter)	MTM1 (R24*)	Single nucleotide variant (nonsense)	Severe X-linked myotubular myopathy +1 more	GPathogenic
Select item 158895	NM_000252.3(MTM1):c.109C>T (p.Arg37Ter)	MTM1 (R37*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 506700	NM_000252.3(MTM1):c.136+17A>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy +1 more	GBenign
Select item 681894	NM_000252.3(MTM1):c.136+172=	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 449364	NM_000252.3(MTM1):c.137-11T>A	MTM1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 11057	NM_000252.3(MTM1):c.141_144del	MTM1	Deletion	Centronuclear myopathy	GPathogenic FDA Recognized database
Select item 11055	NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)	MTM1 (R69C)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GPathogenic FDA Recognized database
Select item 158956	NM_000252.3(MTM1):c.231+1G>A	MTM1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1191275	NM_000252.3(MTM1):c.231+30C>A	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683194	NM_000252.3(MTM1):c.232-147G>C	MTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218366	NM_000252.3(MTM1):c.232-54A>T	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259201	NM_000252.3(MTM1):c.232-28C>T	MTM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 211532	NM_000252.3(MTM1):c.342_342+4del	MTM1	Deletion (splice donor variant +1 more)	not provided +1 more	GPathogenic
Select item 285094	NM_000252.3(MTM1):c.339T>C (p.Cys113=)	MTM1	Single nucleotide variant (synonymous variant +1 more)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 1302221	NM_000252.3(MTM1):c.342+3A>T	MTM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 678679	NM_000252.3(MTM1):c.342+106C>G	MTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188626	NM_000252.3(MTM1):c.343-192C>T	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202158	NM_000252.3(MTM1):c.343-158A>G	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681922	NM_000252.3(MTM1):c.343-100A>G	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512792	NM_000252.3(MTM1):c.405G>A (p.Glu135=)	MTM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1210740	NM_000252.3(MTM1):c.410T>C (p.Leu137Pro)	MTM1 (L100P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 388595	NM_000252.3(MTM1):c.444+16C>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy +1 more	GLikely benign
Select item 679587	NM_000252.3(MTM1):c.445-33C>T	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 11062	NM_000252.3(MTM1):c.469G>A (p.Glu157Lys)	MTM1 (E157K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 817449	NM_000252.3(MTM1):c.503del (p.Asn168fs)	MTM1 (N131fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2138753	NM_000252.3(MTM1):c.528+1G>A	MTM1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 384353	NM_000252.3(MTM1):c.528+6A>G	MTM1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 683214	NM_000252.3(MTM1):c.528+70G>A	MTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207081	NM_000252.3(MTM1):c.528+1035G>A	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188012	NM_000252.3(MTM1):c.529-324G>A	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672730	NM_000252.3(MTM1):c.529-257C>G	MTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205260	NM_000252.3(MTM1):c.529-76G>A	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 158982	NM_000252.3(MTM1):c.557C>T (p.Thr186Ile)	MTM1 (T186I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 11053	NM_000252.3(MTM1):c.566A>G (p.Asn189Ser)	MTM1 (N189S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 158984	NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys)	MTM1 (Y192C +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GLikely pathogenic FDA Recognized database
Select item 385140	NM_000252.3(MTM1):c.582C>T (p.Leu194=)	MTM1	Single nucleotide variant (synonymous variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 280049	NM_000252.3(MTM1):c.593dup (p.Tyr198Ter)	MTM1 (Y198* +1 more)	Duplication (nonsense)	not provided	GPathogenic
Select item 158987	NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)	MTM1 (P205L +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GPathogenic FDA Recognized database
Select item 681923	NM_000252.3(MTM1):c.679-150C>G	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 423812	NM_000252.3(MTM1):c.742G>A (p.Gly248Ser)	MTM1 (G248S +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy +1 more	GConflicting classifications of pathogenicity
Select item 159001	NM_000252.3(MTM1):c.757C>T (p.Arg253Ter)	MTM1 (R253* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 817134	NM_000252.3(MTM1):c.814del (p.Ser272fs)	MTM1 (S272fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 668463	NM_000252.3(MTM1):c.867+13A>C	MTM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 515666	NM_000252.3(MTM1):c.867+17A>G	MTM1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 683191	NM_000252.3(MTM1):c.867+180A>C	MTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 500885	NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg)	MTM1 (K351R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1292818	NM_000252.3(MTM1):c.1053+23T>C	MTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218988	NM_000252.3(MTM1):c.1053+105A>C	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295237	NM_000252.3(MTM1):c.1054-201A>T	MTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295239	NM_000252.3(MTM1):c.1054-193A>G	MTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309994	NM_000252.3(MTM1):c.1107T>A (p.Ser369Arg)	MTM1 (S332R +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy +1 more	GUncertain significance
Select item 158907	NM_000252.3(MTM1):c.1234A>G (p.Ile412Val)	MTM1 (I412V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 158908	NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)	MTM1 (G415E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92669	NM_000252.3(MTM1):c.1260+3G>A	MTM1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 255621	NM_000252.3(MTM1):c.1260+17A>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy +1 more	GBenign
Select item 676679	NM_000252.3(MTM1):c.1260+134C>T	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683216	NM_000252.3(MTM1):c.1260+240A>G	MTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 11058	NM_000252.3(MTM1):c.1261-10A>G	MTM1	Single nucleotide variant (intron variant)	Centronuclear myopathy +2 more	GPathogenic/Likely pathogenic
Select item 158914	NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)	MTM1 (R421Q +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +3 more	GPathogenic
Select item 281932	NM_000252.3(MTM1):c.1291G>A (p.Asp431Asn)	MTM1 (D431N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3338827	NM_000252.3(MTM1):c.1314dup (p.Leu439fs)	MTM1 (L402fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2662330	NM_000252.3(MTM1):c.1334T>C (p.Val445Ala)	MTM1 (V408A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 683192	NM_000252.3(MTM1):c.1353+229A>G	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673642	NM_000252.3(MTM1):c.1353+262C>T	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 744143	NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser)	MTM1 (N422S +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy +2 more	GConflicting classifications of pathogenicity
Select item 158935	NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter)	MTM1 (R474* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	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 461696	NM_000252.3(MTM1):c.1454C>T (p.Ala485Val)	MTM1 (A485V +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 158941	NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs)	MTM1 (Q489fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 511442	NM_000252.3(MTM1):c.1468-10C>T	MTM1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1174940	NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg)	MTM1 (K453R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 280453	NM_000252.3(MTM1):c.1611C>A (p.Tyr537Ter)	MTM1 (Y537* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1216314	NM_000252.3(MTM1):c.*182C>T	MTM1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253588	GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	ABCD1, AFF2 +130 more	Copy number gain	See cases	GPathogenic

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