ClinVar for Gene (Select 25821) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379697	NM_012123.4(MTO1):c.1822C>T (p.Leu608Phe)	MTO1 (L608F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353856	NM_012123.4(MTO1):c.1129+140TTTG[6]	MTO1	Microsatellite (intron variant)	MTO1-related disorder	GLikely benign
Select item 3348957	NM_012123.4(MTO1):c.127G>A (p.Gly43Ser)	MTO1 (G43S)	Single nucleotide variant (missense variant)	MTO1-related disorder	GUncertain significance
Select item 3342812	NM_012123.4(MTO1):c.166G>C (p.Ala56Pro)	MTO1 (A56P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3296748	NM_012123.4(MTO1):c.547A>C (p.Thr183Pro)	MTO1 (T183P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296747	NM_012123.4(MTO1):c.446C>A (p.Thr149Asn)	MTO1 (T149N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296746	NM_012123.4(MTO1):c.429G>C (p.Leu143Phe)	MTO1 (L143F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296745	NM_012123.4(MTO1):c.1332A>T (p.Glu444Asp)	MTO1 (E444D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3217085	NM_012123.4(MTO1):c.337G>A (p.Val113Ile)	MTO1 (V113I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217069	NM_012123.4(MTO1):c.1962C>G (p.Ile654Met)	MTO1 (I654M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217051	NM_012123.4(MTO1):c.1642C>T (p.Leu548Phe)	MTO1 (L548F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055983	NM_012123.4(MTO1):c.1260+179_1260+188del	MTO1	Deletion (intron variant)	MTO1-related disorder	GLikely benign
Select item 3039836	NM_012123.4(MTO1):c.1260+180_1260+188del	MTO1	Deletion (intron variant)	MTO1-related disorder	GLikely benign
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
Select item 2733696	NM_012123.4(MTO1):c.1455C>T (p.Leu485=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2732920	NM_012123.4(MTO1):c.1465+19C>T	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2732382	NM_012123.4(MTO1):c.1491C>T (p.Ser497=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2732008	NM_012123.4(MTO1):c.1566G>A (p.Glu522=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2730436	NM_012123.4(MTO1):c.1680A>G (p.Ser560=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2727172	NM_012123.4(MTO1):c.708G>A (p.Lys236=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2726367	NM_012123.4(MTO1):c.282T>C (p.Asp94=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2723131	NM_012123.4(MTO1):c.1198C>G (p.Gln400Glu)	MTO1 (Q400E +1 more)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2720814	NM_012123.4(MTO1):c.1917+10T>C	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2720583	NM_012123.4(MTO1):c.1644C>T (p.Leu548=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2720410	NM_012123.4(MTO1):c.1107G>A (p.Glu369=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2718305	NM_012123.4(MTO1):c.137dup (p.His46fs)	MTO1 (H46fs)	Duplication (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 2715010	NM_012123.4(MTO1):c.1459C>T (p.Leu487=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2713159	NM_012123.4(MTO1):c.1918-20del	MTO1	Deletion (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2712295	NM_012123.4(MTO1):c.375G>A (p.Leu125=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2707432	NM_012123.4(MTO1):c.1918-6_1918-5insCTAAAT	MTO1	Insertion (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2707240	NM_012123.4(MTO1):c.1104G>A (p.Leu368=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2706095	NM_012123.4(MTO1):c.1866G>C (p.Val622=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2704600	NM_012123.4(MTO1):c.240C>T (p.Ser80=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2701850	NM_012123.4(MTO1):c.1287T>C (p.Ser429=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2698648	NM_012123.4(MTO1):c.825+11T>C	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2695089	NM_012123.4(MTO1):c.1129+13A>C	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2692969	NM_012123.4(MTO1):c.1261-4G>C	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2691508	NM_012123.4(MTO1):c.1274del (p.Gly425fs)	MTO1 (G425fs +2 more)	Deletion (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 2691448	NC_000006.11:g.(?_74171459)_(74202076_74207458)dup	MTO1	Duplication	not specified	GUncertain significance
Select item 2684447	GRCh37/hg19 6q13(chr6:73879839-74610369)x3	CD109, CGAS +10 more	Copy number gain	not provided	GUncertain significance
Select item 2682935	NM_012123.4(MTO1):c.1052T>C (p.Met351Thr)	MTO1 (M351T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663509	NM_012123.4(MTO1):c.865C>G (p.Pro289Ala)	MTO1 (P289A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662813	NM_012123.4(MTO1):c.1886G>A (p.Arg629Gln)	MTO1 (R629Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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