"Genetic Services Laboratory, University of Chicago"[submitter] AND "M - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158963	NM_000252.3(MTM1):c.2T>G (p.Met1Arg)	MTM1 (M1R)	Single nucleotide variant (missense variant +1 more)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158969	NM_000252.3(MTM1):c.3G>A (p.Met1Ile)	MTM1 (M1I)	Single nucleotide variant (missense variant +1 more)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158989	NM_000252.3(MTM1):c.63+1G>A	MTM1	Single nucleotide variant (splice donor variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158990	NM_000252.3(MTM1):c.63+3A>T	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely pathogenic
Select item 158992	NM_000252.3(MTM1):c.64-14T>C	MTM1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 158993	NM_000252.3(MTM1):c.64-1G>A	MTM1	Single nucleotide variant (splice acceptor variant)	Severe X-linked myotubular myopathy	GPathogenic
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 159004	NM_000252.3(MTM1):c.85C>T (p.Arg29Ter)	MTM1 (R29*)	Single nucleotide variant (nonsense)	Severe X-linked myotubular myopathy	GPathogenic
Select item 211540	NM_000252.3(MTM1):c.96dup (p.Glu33Ter)	MTM1 (E33*)	Duplication (nonsense)	Severe X-linked myotubular myopathy	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 211529	NM_000252.3(MTM1):c.130dup (p.Ile44fs)	MTM1 (I44fs)	Duplication (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 211531	NM_000252.3(MTM1):c.137-11dup	MTM1	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 158926	NM_000252.3(MTM1):c.137-7T>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GUncertain significance
Select item 158931	NM_000252.3(MTM1):c.139_141del (p.Lys47del)	MTM1 (K47del)	Deletion (inframe_deletion)	Severe X-linked myotubular myopathy	GPathogenic
Select item 11057	NM_000252.3(MTM1):c.141_144del	MTM1	Deletion	not provided +2 more	GPathogenic
Select item 158933	NM_000252.3(MTM1):c.141A>G (p.Lys47=)	MTM1	Single nucleotide variant (synonymous variant)	Severe X-linked myotubular myopathy	GUncertain significance
Select item 158940	NM_000252.3(MTM1):c.145G>T (p.Val49Phe)	MTM1 (V49F)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158939	NM_000252.3(MTM1):c.145G>A (p.Val49Ile)	MTM1 (V49I)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GConflicting classifications of pathogenicity
Select item 158948	NM_000252.3(MTM1):c.153_156del (p.Ile52fs)	MTM1 (I52fs)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158949	NM_000252.3(MTM1):c.154del (p.Ile52fs)	MTM1 (I52fs)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 1338304	NM_000252.3(MTM1):c.197C>T (p.Thr66Ile)	MTM1 (T66I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 158954	NM_000252.3(MTM1):c.205C>G (p.Arg69Gly)	MTM1 (R69G)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 11055	NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)	MTM1 (R69C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 158955	NM_000252.3(MTM1):c.208C>T (p.Leu70Phe)	MTM1 (L70F)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GPathogenic
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 158957	NM_000252.3(MTM1):c.231+2T>G	MTM1	Single nucleotide variant (splice donor variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 1338301	NM_000252.3(MTM1):c.232-16T>G	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 158960	NM_000252.3(MTM1):c.232-3C>A	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158959	NM_000252.3(MTM1):c.232-2A>C	MTM1	Single nucleotide variant (splice acceptor variant +1 more)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158958	NM_000252.3(MTM1):c.232-1G>A	MTM1	Single nucleotide variant (splice acceptor variant +1 more)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158961	NM_000252.3(MTM1):c.252del (p.Asp84fs)	MTM1 (D84fs)	Deletion (frameshift variant +1 more)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158962	NM_000252.3(MTM1):c.260T>C (p.Leu87Pro)	MTM1 (L87P)	Single nucleotide variant (missense variant +1 more)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158964	NM_000252.3(MTM1):c.301A>G (p.Ser101Gly)	MTM1 (S101G)	Single nucleotide variant (missense variant +1 more)	Severe X-linked myotubular myopathy	GConflicting classifications of pathogenicity
Select item 211532	NM_000252.3(MTM1):c.342_342+4del	MTM1	Deletion (splice donor variant +1 more)	Severe X-linked myotubular myopathy +1 more	GPathogenic
Select item 158965	NM_000252.3(MTM1):c.340A>T (p.Lys114Ter)	MTM1 (K114*)	Single nucleotide variant (nonsense +1 more)	Severe X-linked myotubular myopathy	GPathogenic
Select item 435903	NM_000252.3(MTM1):c.342+1G>A	MTM1	Single nucleotide variant (splice donor variant +1 more)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158966	NM_000252.3(MTM1):c.342+4A>G	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GLikely pathogenic
Select item 158967	NM_000252.3(MTM1):c.343-2A>G	MTM1	Single nucleotide variant (splice acceptor variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158968	NM_000252.3(MTM1):c.397_398del (p.Met133fs)	MTM1 (M133fs +1 more)	Microsatellite (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158970	NM_000252.3(MTM1):c.402del (p.Phe134fs)	MTM1 (F134fs +1 more)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 211533	NM_000252.3(MTM1):c.419dup (p.Tyr140Ter)	MTM1 (Y140* +1 more)	Duplication (nonsense)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158971	NM_000252.3(MTM1):c.420C>G (p.Tyr140Ter)	MTM1 (Y140* +1 more)	Single nucleotide variant (nonsense)	Severe X-linked myotubular myopathy	GPathogenic
Select item 211534	NM_000252.3(MTM1):c.422C>T (p.Ala141Val)	MTM1 (A141V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 158972	NM_000252.3(MTM1):c.431del (p.Leu144fs)	MTM1 (L107fs)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 435901	NM_000252.3(MTM1):c.465del (p.Asn155fs)	MTM1 (N155fs +1 more)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158973	NM_000252.3(MTM1):c.469del (p.Glu157fs)	MTM1 (E157fs +1 more)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158974	NM_000252.3(MTM1):c.514G>T (p.Glu172Ter)	MTM1 (E172* +1 more)	Single nucleotide variant (nonsense)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158975	NM_000252.3(MTM1):c.526C>A (p.Gln176Lys)	MTM1 (Q176K +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GUncertain significance
Select item 158976	NM_000252.3(MTM1):c.528+1G>T	MTM1	Single nucleotide variant (splice donor variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158977	NM_000252.3(MTM1):c.529-2A>G	MTM1	Single nucleotide variant (splice acceptor variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158978	NM_000252.3(MTM1):c.535C>T (p.Pro179Ser)	MTM1 (P179S +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158979	NM_000252.3(MTM1):c.539_545del (p.Asn180fs)	MTM1 (N180fs +1 more)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 211535	NM_000252.3(MTM1):c.549dup (p.Arg184fs)	MTM1 (R184fs +1 more)	Duplication (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158980	NM_000252.3(MTM1):c.549G>A (p.Trp183Ter)	MTM1 (W183* +1 more)	Single nucleotide variant (nonsense)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158981	NM_000252.3(MTM1):c.550A>G (p.Arg184Gly)	MTM1 (R184G +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GPathogenic
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 158983	NM_000252.3(MTM1):c.561T>C (p.Phe187=)	MTM1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 11053	NM_000252.3(MTM1):c.566A>G (p.Asn189Ser)	MTM1 (N189S +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158984	NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys)	MTM1 (Y192C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 158985	NM_000252.3(MTM1):c.591_594del (p.Tyr198fs)	MTM1 (Y198fs +1 more)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158986	NM_000252.3(MTM1):c.611T>G (p.Val204Gly)	MTM1 (V204G +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158987	NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)	MTM1 (P205L +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy +1 more	GPathogenic/Likely pathogenic
Select item 158988	NM_000252.3(MTM1):c.629A>G (p.Asp210Gly)	MTM1 (D210G +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GConflicting classifications of pathogenicity
Select item 158991	NM_000252.3(MTM1):c.637C>T (p.Leu213Phe)	MTM1 (L213F +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158994	NM_000252.3(MTM1):c.664C>T (p.Arg222Ter)	MTM1 (R222* +1 more)	Single nucleotide variant (nonsense)	Severe X-linked myotubular myopathy	GPathogenic
Select item 11060	NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)	MTM1 (R224* +1 more)	Single nucleotide variant (nonsense)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158995	NM_000252.3(MTM1):c.676C>A (p.Pro226Thr)	MTM1 (P226T +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GLikely pathogenic
Select item 158996	NM_000252.3(MTM1):c.678+1G>A	MTM1	Single nucleotide variant (splice donor variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158997	NM_000252.3(MTM1):c.679G>A (p.Val227Met)	MTM1 (V227M +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GPathogenic/Likely pathogenic
Select item 158998	NM_000252.3(MTM1):c.683T>C (p.Leu228Pro)	MTM1 (L228P +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158999	NM_000252.3(MTM1):c.684G>C (p.Leu228=)	MTM1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 92677	NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)	MTM1 (W193R)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy +1 more	GConflicting classifications of pathogenicity
Select item 11059	NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)	MTM1 (R241C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 159000	NM_000252.3(MTM1):c.743G>T (p.Gly248Val)	MTM1 (G248V +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GLikely pathogenic
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 159002	NM_000252.3(MTM1):c.779A>C (p.Tyr260Ser)	MTM1 (Y260S +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 159003	NM_000252.3(MTM1):c.791T>G (p.Ile264Ser)	MTM1 (I264S +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 211536	NM_000252.3(MTM1):c.808_811del (p.Gln270fs)	MTM1 (Q270fs +1 more)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 817134	NM_000252.3(MTM1):c.814del (p.Ser272fs)	MTM1 (S272fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 211537	NM_000252.3(MTM1):c.867_867+1dup	MTM1	Duplication (splice donor variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 159005	NM_000252.3(MTM1):c.867+1G>A	MTM1	Single nucleotide variant (splice donor variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 159006	NM_000252.3(MTM1):c.888_889del (p.Glu296_Ser297insTer)	MTM1	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 159007	NM_000252.3(MTM1):c.912del (p.Glu305fs)	MTM1 (E305fs +1 more)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 159008	NM_000252.3(MTM1):c.913G>A (p.Glu305Lys)	MTM1 (E305K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 159009	NM_000252.3(MTM1):c.921CTT[1] (p.Phe308del)	MTM1 (F308del +1 more)	Microsatellite (inframe_deletion)	Severe X-linked myotubular myopathy	GLikely pathogenic
Select item 211538	NM_000252.3(MTM1):c.949dup (p.Met317fs)	MTM1 (M317fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 159010	NM_000252.3(MTM1):c.958T>C (p.Ser320Pro)	MTM1 (S320P +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 159011	NM_000252.3(MTM1):c.961_962del (p.Leu321fs)	MTM1 (L321fs +1 more)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 211539	NM_000252.3(MTM1):c.969dup (p.Val324fs)	MTM1 (V324fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 159012	NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer)	MTM1	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 211524	NM_000252.3(MTM1):c.1015dup (p.Ser339fs)	MTM1 (S339fs +1 more)	Duplication (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158892	NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg)	MTM1 (W346R +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GLikely pathogenic
Select item 158893	NM_000252.3(MTM1):c.1053+1G>C	MTM1	Single nucleotide variant (splice donor variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 211525	NM_000252.3(MTM1):c.1089dup (p.Val364fs)	MTM1 (V327fs +1 more)	Duplication (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158894	NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs)	MTM1 (K363fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1338243	NM_000252.3(MTM1):c.1109C>G (p.Ser370Ter)	MTM1 (S333* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 158896	NM_000252.3(MTM1):c.1120C>G (p.His374Asp)	MTM1 (H374D +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158897	NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg)	MTM1 (G378R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 158898	NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter)	MTM1 (W379* +1 more)	Single nucleotide variant (nonsense)	Severe X-linked myotubular myopathy	GPathogenic
Select item 158899	NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter)	MTM1 (W379* +1 more)	Single nucleotide variant (nonsense)	Severe X-linked myotubular myopathy	GPathogenic

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