ClinVar for MedGen (Select 1664257) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3776781	NM_012123.4(MTO1):c.1073A>G (p.Gln358Arg)	MTO1 (Q358R)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely pathogenic
Select item 3776780	NM_012123.4(MTO1):c.203G>C (p.Arg68Pro)	MTO1 (R68P)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely pathogenic
Select item 3767215	NM_012123.4(MTO1):c.1669G>A (p.Asp557Asn)	MTO1 (D557N +2 more)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely pathogenic
Select item 3729762	NM_012123.4(MTO1):c.825+12T>C	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3728395	NM_012123.4(MTO1):c.418-5G>T	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3725876	NM_012123.4(MTO1):c.217+13G>A	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3725051	NM_012123.4(MTO1):c.785_788del (p.Ser262fs)	MTO1 (S262fs)	Microsatellite (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 3723470	NM_012123.4(MTO1):c.171dup (p.Cys58fs)	MTO1 (C58fs)	Duplication (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 3712902	NM_012123.4(MTO1):c.938+12A>C	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3711585	NM_012123.4(MTO1):c.1917+14_1917+17del	MTO1	Deletion (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3708069	NM_012123.4(MTO1):c.15A>C (p.Arg5=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3705547	NM_012123.4(MTO1):c.1254A>C (p.Ala418=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3692083	NM_012123.4(MTO1):c.257del (p.Lys86fs)	MTO1 (K86fs)	Deletion (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 3691802	NM_012123.4(MTO1):c.939-19T>C	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3687784	NM_012123.4(MTO1):c.657A>C (p.Ile219=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3680746	NM_012123.4(MTO1):c.165C>T (p.Ala55=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3679425	NM_012123.4(MTO1):c.1261-5T>C	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3678241	NM_012123.4(MTO1):c.1465+7_1465+8del	MTO1	Microsatellite (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3675344	NM_012123.4(MTO1):c.1040_1041del (p.Gln347fs)	MTO1 (Q347fs)	Deletion (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 3671759	NM_012123.4(MTO1):c.420A>G (p.Lys140=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3667239	NM_012123.4(MTO1):c.535+14A>G	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3663188	NM_012123.4(MTO1):c.1746G>A (p.Leu582=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3662848	NM_012123.4(MTO1):c.1416C>T (p.Phe472=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3659976	NM_012123.4(MTO1):c.102T>C (p.Thr34=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3659737	NM_012123.4(MTO1):c.687del (p.Phe230fs)	MTO1 (F230fs)	Deletion (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 3655062	NM_012123.4(MTO1):c.1361T>G (p.Leu454Arg)	MTO1 (L479R +2 more)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 3654681	NM_012123.4(MTO1):c.1763A>C (p.Tyr588Ser)	MTO1 (Y628S +2 more)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 3650929	NM_012123.4(MTO1):c.1236T>G (p.Thr412=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3650212	NM_012123.4(MTO1):c.1917+16G>A	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3646349	NM_012123.4(MTO1):c.1377C>G (p.Thr459=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3644281	NM_012123.4(MTO1):c.735A>G (p.Lys245=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3640945	NM_012123.4(MTO1):c.1356T>C (p.Asp452=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3631795	NM_012123.4(MTO1):c.867T>G (p.Pro289=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3630897	NM_012123.4(MTO1):c.826-15G>C	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3630087	NM_012123.4(MTO1):c.246T>G (p.Gly82=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3624083	NM_012123.4(MTO1):c.938+19T>C	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3623213	NM_012123.4(MTO1):c.632G>T (p.Gly211Val)	MTO1 (G211V)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 3620754	NM_012123.4(MTO1):c.1918-18T>C	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3612379	NM_012123.4(MTO1):c.1637+7A>G	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3594102	NM_012123.4(MTO1):c.412A>G (p.Met138Val)	MTO1 (M138V)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 3399615	NM_012123.4(MTO1):c.1592T>G (p.Leu531Ter)	MTO1 (L531* +2 more)	Single nucleotide variant (nonsense)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +1 more	GPathogenic
Select item 3393476	NM_012123.4(MTO1):c.1355_1365delinsTTACATAGGAGTCTTGATTGTTACATAGGAGTCTTGATTGATG (p.Asp452_Thr455delinsValThrTer)	MTO1	Indel (nonsense)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely pathogenic
Select item 3246031	NC_000006.11:g.(?_74189435)_(74207639_?)del	MTO1	Deletion	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 3246030	NC_000006.11:g.(?_74171578)_(74210458_?)del	MTO1	Deletion	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 3023855	NM_012123.4(MTO1):c.1503T>C (p.Tyr501=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3019744	NM_012123.4(MTO1):c.1911A>G (p.Pro637=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 3016542	NM_012123.4(MTO1):c.813A>G (p.Thr271=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2997960	NM_012123.4(MTO1):c.277del (p.Glu92_Val93insTer)	MTO1	Deletion (nonsense)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 2994313	NM_012123.4(MTO1):c.1129+17G>A	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2991899	NM_012123.4(MTO1):c.1497A>G (p.Gln499=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2987007	NM_012123.4(MTO1):c.417+17A>G	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2986299	NM_012123.4(MTO1):c.1926T>A (p.Ala642=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2980387	NM_012123.4(MTO1):c.1860G>A (p.Arg620=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2975398	NM_012123.4(MTO1):c.1485T>C (p.Cys495=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2974739	NM_012123.4(MTO1):c.1465+15A>T	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2973459	NM_012123.4(MTO1):c.273G>A (p.Arg91=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2965568	NM_012123.4(MTO1):c.242T>G (p.Phe81Cys)	MTO1 (F81C)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2964350	NM_012123.4(MTO1):c.1466-12T>G	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2919652	NM_012123.4(MTO1):c.218-13C>A	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2915274	NM_012123.4(MTO1):c.1512T>A (p.Ala504=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2915149	NM_012123.4(MTO1):c.1757-14A>T	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2912890	NM_012123.4(MTO1):c.2038T>C (p.Tyr680His)	MTO1 (Y680H +2 more)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2912342	NM_012123.4(MTO1):c.666T>C (p.Ala222=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2908590	NM_012123.4(MTO1):c.1044G>A (p.Gly348=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2904835	NM_012123.4(MTO1):c.1434T>C (p.Pro478=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2903066	NM_012123.4(MTO1):c.1637+14A>G	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2901473	NM_012123.4(MTO1):c.937C>T (p.Arg313Ter)	MTO1 (R313*)	Single nucleotide variant (nonsense)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 2899253	NM_012123.4(MTO1):c.549A>C (p.Thr183=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2897015	NM_012123.4(MTO1):c.938+20G>T	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2892292	NM_012123.4(MTO1):c.1466-6C>G	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2883110	NM_012123.4(MTO1):c.312T>C (p.Cys104=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2881123	NM_012123.4(MTO1):c.1989C>T (p.Thr663=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2877362	NM_012123.4(MTO1):c.536-3dup	MTO1	Duplication (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2875718	NM_012123.4(MTO1):c.1638-15_1638-14del	MTO1	Deletion (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2875168	NM_012123.4(MTO1):c.1644C>G (p.Leu548=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2870302	NM_012123.4(MTO1):c.159C>T (p.Thr53=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2863233	NM_012123.4(MTO1):c.1533_1536del (p.Glu512fs)	MTO1 (E512fs +2 more)	Deletion (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 2859549	NM_012123.4(MTO1):c.2064dup (p.Glu689fs)	MTO1 (E714fs +2 more)	Duplication (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2858104	NM_012123.4(MTO1):c.239_242del (p.Ser80fs)	MTO1 (S80fs)	Microsatellite (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 2857434	NM_012123.4(MTO1):c.1440T>C (p.Asn480=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2842517	NM_012123.4(MTO1):c.612A>C (p.Gly204=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2839730	NM_012123.4(MTO1):c.535+1G>A	MTO1	Single nucleotide variant (splice donor variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely pathogenic
Select item 2839000	NM_012123.4(MTO1):c.1574G>C (p.Ser525Thr)	MTO1 (S565T +2 more)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2832033	NM_012123.4(MTO1):c.648del (p.Gln216fs)	MTO1 (Q216fs)	Deletion (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 2826982	NM_012123.4(MTO1):c.1910C>T (p.Pro637Leu)	MTO1 (P662L +2 more)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2825326	NM_012123.4(MTO1):c.1849T>A (p.Leu617Met)	MTO1 (L657M +2 more)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2824130	NM_012123.4(MTO1):c.536-9G>A	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2812112	NM_012123.4(MTO1):c.783A>G (p.Pro261=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2805864	NM_012123.4(MTO1):c.672A>G (p.Thr224=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2803314	NM_012123.4(MTO1):c.535+17G>A	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2797751	NM_012123.4(MTO1):c.938+14G>A	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2797578	NM_012123.4(MTO1):c.285C>T (p.Ala95=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2790567	NM_012123.4(MTO1):c.135A>G (p.Gly45=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2762999	NM_012123.4(MTO1):c.1757-20A>T	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2757297	NM_012123.4(MTO1):c.1323C>T (p.Ser441=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2755480	NM_012123.4(MTO1):c.36G>T (p.Ala12=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2744346	NM_012123.4(MTO1):c.218-16_218-15insA	MTO1	Insertion (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2743272	NM_012123.4(MTO1):c.939-10T>C	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2742180	NM_012123.4(MTO1):c.218-15G>T	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2734441	NM_012123.4(MTO1):c.217+19G>A	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign

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