"GeneDx"[submitter] AND "MARS1"[gene] - ClinVar

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1230881	NC_000012.12:g.57487874del	ARHGAP9, MARS1	Deletion (intron variant)	not provided	GBenign
Select item 1221110	NC_000012.12:g.57487873_57487874del	ARHGAP9, MARS1	Deletion (intron variant)	not provided	GBenign
Select item 1199900	NC_000012.12:g.57487872_57487874del	ARHGAP9, MARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 423053	NM_004990.4(MARS1):c.20_22del (p.Asp7del)	ARHGAP9, MARS1 (D7del)	Deletion (intron variant)	not provided	GUncertain significance
Select item 1186581	NM_004990.4(MARS1):c.31G>A (p.Gly11Ser)	ARHGAP9, MARS1 (G11S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 386932	NM_004990.4(MARS1):c.42G>T (p.Pro14=)	ARHGAP9, MARS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2U +2 more	GLikely benign
Select item 509988	NM_004990.4(MARS1):c.109+18G>C	ARHGAP9, MARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2U +2 more	GBenign/Likely benign
Select item 1257282	NM_004990.4(MARS1):c.109+112A>G	MARS1, ARHGAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294405	NM_004990.4(MARS1):c.110-26T>A	MARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507930	NM_004990.4(MARS1):c.110-10C>T	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GLikely benign
Select item 669157	NM_004990.4(MARS1):c.201-10C>T	MARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514776	NM_004990.4(MARS1):c.280-18A>G	MARS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 380040	NM_004990.4(MARS1):c.280-14C>T	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +4 more	GBenign/Likely benign
Select item 1308995	NM_004990.4(MARS1):c.319G>A (p.Gly107Ser)	MARS1 (G107S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 382110	NM_004990.4(MARS1):c.369C>T (p.His123=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +3 more	GLikely benign
Select item 508936	NM_004990.4(MARS1):c.415-5C>A	MARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2U +3 more	GLikely benign
Select item 388660	NM_004990.4(MARS1):c.490+14A>G	MARS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1250389	NM_004990.4(MARS1):c.490+47G>A	MARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509072	NM_004990.4(MARS1):c.505C>T (p.Leu169=)	MARS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 385033	NM_004990.4(MARS1):c.626G>A (p.Ser209Asn)	MARS1 (S209N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +3 more	GBenign/Likely benign
Select item 420243	NM_004990.4(MARS1):c.661G>A (p.Glu221Lys)	MARS1 (E221K)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +4 more	GConflicting classifications of pathogenicity
Select item 511696	NM_004990.4(MARS1):c.664-12C>T	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GLikely benign
Select item 449718	NM_004990.4(MARS1):c.699T>G (p.Ile233Met)	MARS1 (I233M)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1252758	NM_004990.4(MARS1):c.771-136T>C	MARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513797	NM_004990.4(MARS1):c.771-15C>G	MARS1	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 475430	NM_004990.4(MARS1):c.792G>A (p.Arg264=)	MARS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 475431	NM_004990.4(MARS1):c.801C>T (p.Leu267=)	MARS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 392628	NM_004990.4(MARS1):c.853A>T (p.Ile285Phe)	MARS1 (I285F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 450780	NM_004990.4(MARS1):c.854T>C (p.Ile285Thr)	MARS1 (I285T)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GUncertain significance
Select item 385405	NM_004990.4(MARS1):c.873C>T (p.Ala291=)	MARS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 392138	NM_004990.4(MARS1):c.887+17G>A	MARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GLikely benign
Select item 2502776	NM_004990.4(MARS1):c.985C>G (p.Pro329Ala)	MARS1 (P329A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430002	NM_004990.4(MARS1):c.1091+2dup	MARS1	Duplication (splice donor variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GUncertain significance
Select item 68463	NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu)	MARS1 (F370L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 3364878	NM_004990.4(MARS1):c.1139T>A (p.Leu380Gln)	MARS1 (L380Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432403	NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys)	MARS1 (R394C)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +3 more	GUncertain significance
Select item 694266	NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr)	MARS1 (A397T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +2 more	GUncertain significance
Select item 386024	NM_004990.4(MARS1):c.1194C>T (p.Asp398=)	MARS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 388751	NM_004990.4(MARS1):c.1209C>T (p.Gly403=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +2 more	GLikely benign
Select item 388761	NM_004990.4(MARS1):c.1294-5C>T	MARS1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 452282	NM_004990.4(MARS1):c.1337C>T (p.Ser446Leu)	MARS1 (S446L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +3 more	GUncertain significance
Select item 389741	NM_004990.4(MARS1):c.1360C>T (p.Leu454=)	MARS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1294403	NM_004990.4(MARS1):c.1369-132G>C	MARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229859	NM_004990.4(MARS1):c.1369-69A>G	MARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388752	NM_004990.4(MARS1):c.1369-11C>T	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GBenign/Likely benign
Select item 1307942	NM_004990.4(MARS1):c.1388A>G (p.Glu463Gly)	MARS1 (E463G)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GUncertain significance
Select item 512148	NM_004990.4(MARS1):c.1389G>A (p.Glu463=)	MARS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 917037	NM_004990.4(MARS1):c.1427C>A (p.Pro476His)	MARS1 (P476H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 381454	NM_004990.4(MARS1):c.1500A>G (p.Lys500=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +4 more	GBenign
Select item 508379	NM_004990.4(MARS1):c.1539+12T>G	MARS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1261323	NM_004990.4(MARS1):c.1539+36A>G	MARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384378	NM_004990.4(MARS1):c.1540-3C>T	MARS1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1806569	NM_004990.4(MARS1):c.1635+1G>A	MARS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 382081	NM_004990.4(MARS1):c.1636-4C>T	MARS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 450196	NM_004990.4(MARS1):c.1662_1667del (p.Lys554_Asp555del)	MARS1	Deletion (inframe_deletion)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GConflicting classifications of pathogenicity
Select item 542172	NM_004990.4(MARS1):c.1673C>A (p.Pro558His)	MARS1 (P558H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GUncertain significance
Select item 389203	NM_004990.4(MARS1):c.1689C>T (p.Val563=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +2 more	GBenign/Likely benign
Select item 848340	NM_004990.4(MARS1):c.1732G>A (p.Val578Ile)	MARS1 (V578I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 374666	NM_004990.4(MARS1):c.1753+7A>G	MARS1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 475415	NM_004990.4(MARS1):c.1754-4C>A	MARS1, MIR6758	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GLikely benign
Select item 504120	NM_004990.4(MARS1):c.1785_1786insTT (p.Lys596fs)	MARS1 (K596fs)	Insertion (frameshift variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 156025	NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys)	MARS1 (R618C)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +4 more	GUncertain significance
Select item 512302	NM_004990.4(MARS1):c.1881G>A (p.Glu627=)	MARS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 511490	NM_004990.4(MARS1):c.1995T>C (p.Phe665=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +2 more	GLikely benign
Select item 380553	NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln)	MARS1 (R727Q)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 506821	NM_004990.4(MARS1):c.2204+4_2204+7del	MARS1	Microsatellite (splice donor variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GConflicting classifications of pathogenicity
Select item 451212	NM_004990.4(MARS1):c.2204+1G>T	MARS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 506768	NM_004990.4(MARS1):c.2204+10C>T	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GLikely benign
Select item 382084	NM_004990.4(MARS1):c.2204+11G>A	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +4 more	GBenign/Likely benign
Select item 1182442	NM_004990.4(MARS1):c.2209C>T (p.Arg737Trp)	MARS1 (R737W)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 3368420	NM_004990.4(MARS1):c.2248G>C (p.Ala750Pro)	MARS1 (A750P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681934	NM_004990.4(MARS1):c.2277C>T (p.Tyr759=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GLikely benign
Select item 389593	NM_004990.4(MARS1):c.2391A>C (p.Thr797=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +4 more	GConflicting classifications of pathogenicity
Select item 388643	NM_004990.4(MARS1):c.2421T>C (p.Asn807=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +2 more	GLikely benign
Select item 489364	NM_004990.4(MARS1):c.2464-7T>C	MARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 380846	NM_004990.4(MARS1):c.2532G>A (p.Ala844=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +4 more	GBenign
Select item 523880	NM_004990.4(MARS1):c.2569C>T (p.Arg857Ter)	MARS1 (R857*)	Single nucleotide variant (nonsense)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +4 more	GUncertain significance
Select item 393235	NM_004990.4(MARS1):c.2570G>A (p.Arg857Gln)	MARS1 (R857Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392121	NM_004990.4(MARS1):c.2612C>T (p.Ala871Val)	MARS1 (A871V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 452852	NM_004990.4(MARS1):c.2659G>A (p.Glu887Lys)	MARS1 (E887K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 542174	NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser)	MARS1 (P891S)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +3 more	GConflicting classifications of pathogenicity

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Items: 81