ClinVar for MedGen (Select 908570) - ClinVar

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Items: 34

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25730651.	NM_001605.3(AARS1):c.887G>A (p.Arg296Gln) GRCh37: Chr16:70303596 GRCh38: Chr16:70269693	AARS1	R296Q	Developmental and epileptic encephalopathy, 29	Uncertain significance (Apr 24, 2023)	criteria provided, single submitter
Select item 25730642.	NM_001605.3(AARS1):c.287C>T (p.Thr96Ile) GRCh37: Chr16:70310915 GRCh38: Chr16:70277012	AARS1	T96I	Developmental and epileptic encephalopathy, 29	Uncertain significance (Apr 24, 2023)	criteria provided, single submitter
Select item 24416403.	NM_001605.3(AARS1):c.232G>T (p.Ala78Ser) GRCh37: Chr16:70310970 GRCh38: Chr16:70277067	AARS1	A78S	Developmental and epileptic encephalopathy, 29	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 17064404.	NM_001605.3(AARS1):c.141C>A (p.Asn47Lys) GRCh37: Chr16:70316526 GRCh38: Chr16:70282623	AARS1	N47K	Developmental and epileptic encephalopathy, 29	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 16875295.	NM_001605.3(AARS1):c.241A>G (p.Lys81Glu) GRCh37: Chr16:70310961 GRCh38: Chr16:70277058	AARS1	K81E	Developmental and epileptic encephalopathy, 29	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 16873256.	NM_001605.3(AARS1):c.161T>C (p.Leu54Pro) GRCh37: Chr16:70311041 GRCh38: Chr16:70277138	AARS1	L54P	Developmental and epileptic encephalopathy, 29	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 16821917.	NM_001605.3(AARS1):c.1878C>T (p.Gly626=) GRCh37: Chr16:70292997 GRCh38: Chr16:70259094	AARS1		Charcot-Marie-Tooth disease type 2	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 13316838.	NM_001605.3(AARS1):c.1897del (p.Arg633fs) GRCh37: Chr16:70292978 GRCh38: Chr16:70259075	AARS1	R633fs	Developmental and epileptic encephalopathy, 29	Likely pathogenic	no assertion criteria provided
Select item 13285149.	NM_001605.3(AARS1):c.86C>T (p.Ser29Phe) GRCh37: Chr16:70316581 GRCh38: Chr16:70282678	AARS1	S29F	Developmental and epileptic encephalopathy, 29	Uncertain significance	no assertion criteria provided
Select item 132538610.	NM_001605.3(AARS1):c.2067dup (p.Tyr690fs) GRCh37: Chr16:70292045-70292046 GRCh38: Chr16:70258142-70258143	AARS1	Y690fs	Developmental and epileptic encephalopathy, 29	Pathogenic (Mar 2, 2022)	no assertion criteria provided
Select item 129930211.	NM_001605.3(AARS1):c.1786C>T (p.Pro596Ser) GRCh37: Chr16:70293089 GRCh38: Chr16:70259186	AARS1	P596S	Developmental and epileptic encephalopathy, 29	Uncertain significance (Feb 3, 2021)	criteria provided, single submitter
Select item 116409412.	NM_001605.3(AARS1):c.1574G>A (p.Cys525Tyr) GRCh37: Chr16:70296346 GRCh38: Chr16:70262443	AARS1	C525Y	Developmental and epileptic encephalopathy, 29	Likely pathogenic (Jun 5, 2021)	criteria provided, single submitter
Select item 116409313.	NM_001605.3(AARS1):c.562_563inv (p.Ser188Leu) GRCh37: Chr16:70305792-70305793 GRCh38: Chr16:70271889-70271890	AARS1	S188L	Developmental and epileptic encephalopathy, 29	Pathogenic (Jun 5, 2021)	criteria provided, single submitter
Select item 116409114.	NM_001605.3(AARS1):c.296A>G (p.Glu99Gly) GRCh37: Chr16:70310906 GRCh38: Chr16:70277003	AARS1	E99G	Developmental and epileptic encephalopathy, 29	Pathogenic	criteria provided, single submitter
Select item 106177715.	NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp) GRCh37: Chr16:70292906 GRCh38: Chr16:70259003	AARS1	N657D	Charcot-Marie-Tooth disease type 2, Trichothiodystrophy 8, nonphotosensitive, Charcot-Marie-Tooth disease axonal type 2N, Developmental and epileptic encephalopathy, 29, Leukoencephalopathy, hereditary diffuse, with spheroids 2	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103698816.	NM_001605.3(AARS1):c.1741G>A (p.Gly581Ser) GRCh37: Chr16:70294991 GRCh38: Chr16:70261088	AARS1	G581S	Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease type 2	Conflicting interpretations of pathogenicity (Dec 17, 2021)	criteria provided, conflicting interpretations
Select item 102935817.	NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys) GRCh37: Chr16:70316593 GRCh38: Chr16:70282690	AARS1	Y25C	Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease type 2, not provided	Uncertain significance (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80806718.	NM_001605.3(AARS1):c.1997T>C (p.Val666Ala) GRCh37: Chr16:70292116 GRCh38: Chr16:70258213	AARS1	V666A	not provided, Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease type 2	Conflicting interpretations of pathogenicity (Aug 23, 2023)	criteria provided, conflicting interpretations
Select item 80735519.	NM_001605.3(AARS1):c.988C>T (p.Arg330Ter) GRCh37: Chr16:70302257 GRCh38: Chr16:70268354	AARS1	R330*	Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease type 2	Conflicting interpretations of pathogenicity (Jun 10, 2022)	criteria provided, conflicting interpretations
Select item 66550420.	NM_001605.3(AARS1):c.778A>G (p.Thr260Ala) GRCh37: Chr16:70304137 GRCh38: Chr16:70270234	AARS1	T260A	Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy, 29	Conflicting interpretations of pathogenicity (Aug 13, 2021)	criteria provided, conflicting interpretations
Select item 54967621.	NM_001605.3(AARS1):c.2873T>C (p.Phe958Ser) GRCh37: Chr16:70286658 GRCh38: Chr16:70252755	AARS1	F958S	Developmental and epileptic encephalopathy, 29	Likely pathogenic (Apr 25, 2018)	no assertion criteria provided
Select item 47674622.	NM_001605.3(AARS1):c.959G>A (p.Arg320His) GRCh37: Chr16:70303524 GRCh38: Chr16:70269621	AARS1	R320H	Charcot-Marie-Tooth disease axonal type 2N, Leukoencephalopathy, hereditary diffuse, with spheroids 2, Trichothiodystrophy 8, nonphotosensitive, Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44987323.	NM_001605.3(AARS1):c.259G>A (p.Asp87Asn) GRCh37: Chr16:70310943 GRCh38: Chr16:70277040	AARS1	D87N	not provided, Charcot-Marie-Tooth disease type 2	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41875224.	NM_001605.3(AARS1):c.-21-11dup GRCh37: Chr16:70316697-70316698 GRCh38: Chr16:70282794-70282795	AARS1		not specified, Charcot-Marie-Tooth disease axonal type 2N, Developmental and epileptic encephalopathy, 29, Trichothiodystrophy 8, nonphotosensitive, Leukoencephalopathy, hereditary diffuse, with spheroids 2	Likely benign (Oct 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32032525.	NM_001605.3(AARS1):c.2715T>C (p.Val905=) GRCh37: Chr16:70287177 GRCh38: Chr16:70253274	AARS1		Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy, 29, not provided, Charcot-Marie-Tooth disease axonal type 2N	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28299726.	NM_001605.3(AARS1):c.1044G>C (p.Thr348=) GRCh37: Chr16:70302201 GRCh38: Chr16:70268298	AARS1		Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2, not specified, Charcot-Marie-Tooth disease axonal type 2N, Leukoencephalopathy, hereditary diffuse, with spheroids 2, Trichothiodystrophy 8, nonphotosensitive, Developmental and epileptic encephalopathy, 29	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24659827.	NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) GRCh37: Chr16:70286793 GRCh38: Chr16:70252890	AARS1	G913D	Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy, 29, not provided	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 24606328.	NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln) GRCh37: Chr16:70289731 GRCh38: Chr16:70255828	AARS1	R729Q	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease axonal type 2N, not provided	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 23903029.	NM_001605.3(AARS1):c.1404C>T (p.Tyr468=) GRCh37: Chr16:70298949 GRCh38: Chr16:70265046	AARS1		not specified, not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease axonal type 2N, Leukoencephalopathy, hereditary diffuse, with spheroids 2, Trichothiodystrophy 8, nonphotosensitive, Developmental and epileptic encephalopathy, 29	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22072330.	NM_001605.3(AARS1):c.2900A>T (p.Lys967Met) GRCh37: Chr16:70286631 GRCh38: Chr16:70252728	AARS1	K967M	Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease axonal type 2N, Leukoencephalopathy, hereditary diffuse, with spheroids 2, Developmental and epileptic encephalopathy, 29, Trichothiodystrophy 8, nonphotosensitive	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21654931.	NM_001605.3(AARS1):c.700C>T (p.Pro234Ser) GRCh37: Chr16:70304215 GRCh38: Chr16:70270312	AARS1	P234S	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Leukoencephalopathy, hereditary diffuse, with spheroids 2, Trichothiodystrophy 8, nonphotosensitive, Charcot-Marie-Tooth disease axonal type 2N, Developmental and epileptic encephalopathy, 29, not provided, Charcot-Marie-Tooth disease axonal type 2N	Benign/Likely benign (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21549732.	NM_001605.3(AARS1):c.1672-4T>A GRCh37: Chr16:70295064 GRCh38: Chr16:70261161	AARS1		Inborn genetic diseases, not specified, Charcot-Marie-Tooth disease type 2, not provided, Leukoencephalopathy, hereditary diffuse, with spheroids 2, Trichothiodystrophy 8, nonphotosensitive, Charcot-Marie-Tooth disease axonal type 2N, Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease axonal type 2N	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 19010333.	NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) GRCh37: Chr16:70289666 GRCh38: Chr16:70255763	AARS1	R751G	Inborn genetic diseases, Charcot-Marie-Tooth disease, not provided, AARS-related disorders, Charcot-Marie-Tooth disease type 2	Conflicting interpretations of pathogenicity (Nov 3, 2023)	criteria provided, conflicting interpretations
Select item 19010234.	NM_001605.3(AARS1):c.242A>C (p.Lys81Thr) GRCh37: Chr16:70310960 GRCh38: Chr16:70277057	AARS1	K81T	not provided	Likely pathogenic (Jun 3, 2015)	criteria provided, single submitter

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Items: 34