MARS2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3123695	NM_138395.4(MARS2):c.22C>A (p.Arg8Ser)	MARS2 (R8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1421018	NM_138395.4(MARS2):c.23G>T (p.Arg8Leu)	MARS2 (R8L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118240	NM_138395.4(MARS2):c.24C>T (p.Arg8=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 138170	NM_138395.4(MARS2):c.24C>G (p.Arg8=)	MARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1960872	NM_138395.4(MARS2):c.26T>A (p.Leu9Gln)	MARS2 (L9Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050884	NM_138395.4(MARS2):c.38C>T (p.Thr13Met)	MARS2 (T13M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195683	NM_138395.4(MARS2):c.43G>A (p.Ala15Thr)	MARS2 (A15T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3039688	NM_138395.4(MARS2):c.48T>C (p.Ser16=)	MARS2	Single nucleotide variant (synonymous variant)	MARS2-related disorder	GLikely benign
Select item 1630116	NM_138395.4(MARS2):c.52C>T (p.Leu18=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 516163	NM_138395.4(MARS2):c.60C>T (p.Leu20=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1512982	NM_138395.4(MARS2):c.61C>G (p.Leu21Val)	MARS2 (L21V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 389996	NM_138395.4(MARS2):c.87C>T (p.Tyr29=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181435	NM_138395.4(MARS2):c.88A>T (p.Ser30Cys)	MARS2 (S30C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681427	NM_138395.4(MARS2):c.93G>T (p.Ser31=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083410	NM_138395.4(MARS2):c.115G>A (p.Asp39Asn)	MARS2 (D39N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379723	NM_138395.4(MARS2):c.124G>A (p.Asp42Asn)	MARS2 (D42N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 214632	NM_138395.4(MARS2):c.145A>G (p.Thr49Ala)	MARS2 (T49A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1929342	NM_138395.4(MARS2):c.147A>G (p.Thr49=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486955	NM_138395.4(MARS2):c.151A>G (p.Ile51Val)	MARS2 (I51V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744662	NM_138395.4(MARS2):c.156C>T (p.Phe52=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902437	NM_138395.4(MARS2):c.214C>T (p.Leu72=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917014	NM_138395.4(MARS2):c.216A>G (p.Leu72=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545791	NM_138395.4(MARS2):c.231C>T (p.Arg77=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842561	NM_138395.4(MARS2):c.241C>A (p.Pro81Thr)	MARS2 (P81T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707918	NM_138395.4(MARS2):c.247A>G (p.Thr83Ala)	MARS2 (T83A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1993445	NM_138395.4(MARS2):c.368A>C (p.Gln123Pro)	MARS2 (Q123P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315819	NM_138395.4(MARS2):c.368A>T (p.Gln123Leu)	MARS2 (Q123L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433644	NM_138395.4(MARS2):c.375C>G (p.Phe125Leu)	MARS2 (F125L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852624	NM_138395.4(MARS2):c.376C>T (p.Gln126Ter)	MARS2 (Q126*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1931195	NM_138395.4(MARS2):c.407T>G (p.Ile136Ser)	MARS2 (I136S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385094	NM_138395.4(MARS2):c.408C>G (p.Ile136Met)	MARS2 (I136M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546310	NM_138395.4(MARS2):c.409C>T (p.Arg137Cys)	MARS2 (R137C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316553	NM_138395.4(MARS2):c.410_411delinsTA (p.Arg137Leu)	MARS2 (R137L)	Indel (missense variant)	not provided	GUncertain significance
Select item 731590	NM_138395.4(MARS2):c.411C>A (p.Arg137=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1549719	NM_138395.4(MARS2):c.417G>C (p.Thr139=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2278615	NM_138395.4(MARS2):c.422C>T (p.Ala141Val)	MARS2 (A141V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 193028	NM_138395.4(MARS2):c.424C>T (p.Arg142Trp)	MARS2 (R142W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2906926	NM_138395.4(MARS2):c.447C>T (p.His149=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3293351	NM_138395.4(MARS2):c.452G>T (p.Trp151Leu)	MARS2 (W151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2906035	NM_138395.4(MARS2):c.452G>C (p.Trp151Ser)	MARS2 (W151S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070501	NM_138395.4(MARS2):c.457G>A (p.Val153Met)	MARS2 (V153M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 138167	NM_138395.4(MARS2):c.471C>T (p.Arg157=)	MARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2060542	NM_138395.4(MARS2):c.475C>G (p.Leu159Val)	MARS2 (L159V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 799160	NM_138395.4(MARS2):c.489C>T (p.Gly163=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1032416	NM_138395.4(MARS2):c.494A>G (p.Tyr165Cys)	MARS2 (Y165C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 25 +1 more	GUncertain significance
Select item 2976021	NM_138395.4(MARS2):c.499G>A (p.Gly167Ser)	MARS2 (G167S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068083	NM_138395.4(MARS2):c.510C>T (p.Cys170=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2210644	NM_138395.4(MARS2):c.523T>A (p.Cys175Ser)	MARS2 (C175S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2038091	NM_138395.4(MARS2):c.539C>T (p.Ala180Val)	MARS2 (A180V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960973	NM_138395.4(MARS2):c.548C>T (p.Thr183Ile)	MARS2 (T183I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1577440	NM_138395.4(MARS2):c.549C>G (p.Thr183=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1206926	NM_138395.4(MARS2):c.549C>T (p.Thr183=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 193027	NM_138395.4(MARS2):c.550C>T (p.Gln184Ter)	MARS2 (Q184*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 25	GPathogenic
Select item 2007468	NM_138395.4(MARS2):c.584T>C (p.Val195Ala)	MARS2 (V195A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699106	NM_138395.4(MARS2):c.590T>A (p.Leu197His)	MARS2 (L197H)	Single nucleotide variant (missense variant)	Spastic ataxia 3	GUncertain significance
Select item 2413941	NM_138395.4(MARS2):c.604C>T (p.Pro202Ser)	MARS2 (P202S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214625	NM_138395.4(MARS2):c.606A>G (p.Pro202=)	MARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2782035	NM_138395.4(MARS2):c.648C>T (p.Ser216=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 100659	NM_138395.4(MARS2):c.682_949del (p.Gly228fs)	MARS2 (G228fs)	Deletion (frameshift variant)	Spastic ataxia 3	GPathogenic
Select item 1975601	NM_138395.4(MARS2):c.686A>C (p.Asn229Thr)	MARS2 (N229T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491045	NM_138395.4(MARS2):c.689C>G (p.Pro230Arg)	MARS2 (P230R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 516164	NM_138395.4(MARS2):c.697A>G (p.Ile233Val)	MARS2 (I233V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1179556	NM_138395.4(MARS2):c.720C>T (p.His240=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214626	NM_138395.4(MARS2):c.721G>A (p.Val241Ile)	MARS2 (V241I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2880699	NM_138395.4(MARS2):c.723A>G (p.Val241=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3123697	NM_138395.4(MARS2):c.727C>T (p.Leu243Phe)	MARS2 (L243F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1318165	NM_138395.4(MARS2):c.740A>G (p.Asp247Gly)	MARS2 (D247G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190815	NM_138395.4(MARS2):c.745G>A (p.Glu249Lys)	MARS2 (E249K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2443547	NM_138395.4(MARS2):c.746A>T (p.Glu249Val)	MARS2 (E249V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 378110	NM_138395.4(MARS2):c.748C>T (p.Leu250=)	MARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2809699	NM_138395.4(MARS2):c.752C>T (p.Pro251Leu)	MARS2 (P251L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107772	NM_138395.4(MARS2):c.753C>G (p.Pro251=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2566933	NM_138395.4(MARS2):c.754G>A (p.Asp252Asn)	MARS2 (D252N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1629174	NM_138395.4(MARS2):c.757C>T (p.Leu253=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1476171	NM_138395.4(MARS2):c.757C>A (p.Leu253Met)	MARS2 (L253M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721918	NM_138395.4(MARS2):c.763G>A (p.Val255Met)	MARS2 (V255M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974279	NM_138395.4(MARS2):c.763G>C (p.Val255Leu)	MARS2 (V255L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974184	NM_138395.4(MARS2):c.770G>C (p.Arg257Pro)	MARS2 (R257P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901135	NM_138395.4(MARS2):c.783C>T (p.His261=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897200	NM_138395.4(MARS2):c.795C>A (p.Gly265=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 638360	NM_138395.4(MARS2):c.799C>T (p.Pro267Ser)	MARS2 (P267S)	Single nucleotide variant (missense variant)	Spastic ataxia 3	GUncertain significance
Select item 392497	NM_138395.4(MARS2):c.801G>C (p.Pro267=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2708585	NM_138395.4(MARS2):c.809G>A (p.Gly270Glu)	MARS2 (G270E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730874	NM_138395.4(MARS2):c.815A>G (p.Asp272Gly)	MARS2 (D272G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939265	NM_138395.4(MARS2):c.819G>C (p.Ser273=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1373372	NM_138395.4(MARS2):c.826A>C (p.Ile276Leu)	MARS2 (I276L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2006675	NM_138395.4(MARS2):c.847del (p.Leu283fs)	MARS2 (L283fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2700190	NM_138395.4(MARS2):c.854A>T (p.Asn285Ile)	MARS2 (N285I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075977	NM_138395.4(MARS2):c.854A>G (p.Asn285Ser)	MARS2 (N285S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2835001	NM_138395.4(MARS2):c.855C>T (p.Asn285=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1910025	NM_138395.4(MARS2):c.861C>T (p.Leu287=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 449936	NM_138395.4(MARS2):c.872del (p.Gly291fs)	MARS2 (G291fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 1384340	NM_138395.4(MARS2):c.872G>A (p.Gly291Asp)	MARS2 (G291D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008075	NM_138395.4(MARS2):c.876C>T (p.Tyr292=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927484	NM_138395.4(MARS2):c.918T>C (p.His306=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1027711	NM_138395.4(MARS2):c.928A>G (p.Lys310Glu)	MARS2 (K310E)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 25	GUncertain significance
Select item 3343252	NM_138395.4(MARS2):c.929A>T (p.Lys310Met)	MARS2 (K310M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 510579	NM_138395.4(MARS2):c.933C>T (p.Asp311=)	MARS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2028032	NM_138395.4(MARS2):c.946C>T (p.His316Tyr)	MARS2 (H316Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815928	NM_138395.4(MARS2):c.947A>T (p.His316Leu)	MARS2 (H316L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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