ClinVar for MedGen (Select 1779519) - ClinVar - NCBI

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Items: 16

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25769661.	NM_005548.3(KARS1):c.1076C>T (p.Ser359Leu) GRCh37: Chr16:75665593 GRCh38: Chr16:75631695	KARS1	S203L, S359L, S387L	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	Uncertain significance (Aug 1, 2023)	criteria provided, single submitter
Select item 25769652.	NM_005548.3(KARS1):c.1328T>C (p.Leu443Pro) GRCh37: Chr16:75665076 GRCh38: Chr16:75631178	KARS1	L287P, L443P, L471P	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	Likely pathogenic (Aug 1, 2023)	criteria provided, single submitter
Select item 25769643.	NM_005548.3(KARS1):c.1601G>A (p.Cys534Tyr) GRCh37: Chr16:75662561 GRCh38: Chr16:75628663	KARS1	C378Y, C534Y, C562Y	not provided, Leukoencephalopathy, progressive, infantile-onset, with or without deafness	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations
Select item 25740344.	NM_005548.3(KARS1):c.421A>C (p.Lys141Gln) GRCh37: Chr16:75670413 GRCh38: Chr16:75636515	KARS1	K141Q, K169Q	Autosomal recessive nonsyndromic hearing loss 89, Leukoencephalopathy, progressive, infantile-onset, with or without deafness	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 24995535.	NM_005548.3(KARS1):c.1514C>G (p.Pro505Arg) GRCh37: Chr16:75663350 GRCh38: Chr16:75629452	KARS1	P349R, P505R, P533R	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	Likely pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 24294726.	NM_005548.3(KARS1):c.805C>G (p.Pro269Ala) GRCh37: Chr16:75668181 GRCh38: Chr16:75634283	KARS1	P113A, P269A, P297A	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	Uncertain significance	criteria provided, single submitter
Select item 16824557.	NM_005548.3(KARS1):c.85G>C (p.Ala29Pro) GRCh37: Chr16:75675599 GRCh38: Chr16:75641701	KARS1	A29P, A57P	KARS1-related condition, not provided, Leukoencephalopathy, progressive, infantile-onset, with or without deafness	Conflicting interpretations of pathogenicity (Apr 20, 2023)	criteria provided, conflicting interpretations
Select item 16793258.	NM_005548.3(KARS1):c.1181T>A (p.Ile394Asn) GRCh37: Chr16:75665385 GRCh38: Chr16:75631487	KARS1	I238N, I394N, I422N	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	Uncertain significance (Aug 1, 2021)	criteria provided, single submitter
Select item 9979779.	NM_005548.3(KARS1):c.1573G>A (p.Glu525Lys) GRCh37: Chr16:75662589 GRCh38: Chr16:75628691	KARS1	E525K, E369K, E553K	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	Pathogenic (Mar 1, 2021)	no assertion criteria provided
Select item 99797610.	NM_005548.3(KARS1):c.1312C>T (p.Arg438Trp) GRCh37: Chr16:75665092 GRCh38: Chr16:75631194	KARS1	R438W, R282W, R466W	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	Pathogenic (Mar 1, 2021)	no assertion criteria provided
Select item 98574811.	NM_005548.3(KARS1):c.1676C>T (p.Thr559Met) GRCh37: Chr16:75662486 GRCh38: Chr16:75628588	KARS1	T403M, T559M, T587M	Inborn genetic diseases, Leukoencephalopathy, progressive, infantile-onset, with or without deafness, not provided	Conflicting interpretations of pathogenicity (Nov 22, 2022)	criteria provided, conflicting interpretations
Select item 77861312.	NM_005548.3(KARS1):c.223-8_223-6del GRCh37: Chr16:75674253-75674255 GRCh38: Chr16:75640355-75640357	KARS1		Autosomal recessive nonsyndromic hearing loss 89, Leukoencephalopathy, progressive, infantile-onset, with or without deafness, Deafness, congenital, and adult-onset progressive leukoencephalopathy, Charcot-Marie-Tooth disease recessive intermediate B, not provided	Benign/Likely benign (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54798513.	NM_005548.3(KARS1):c.690A>T (p.Arg230Ser) GRCh37: Chr16:75669683 GRCh38: Chr16:75635785	KARS1	R258S, R230S, R74S	not provided, Leukoencephalopathy, progressive, infantile-onset, with or without deafness	Conflicting interpretations of pathogenicity (Aug 30, 2023)	criteria provided, conflicting interpretations
Select item 22875814.	NM_005548.3(KARS1):c.274G>C (p.Glu92Gln) GRCh37: Chr16:75674196 GRCh38: Chr16:75640298	KARS1	E120Q, E92Q	Autosomal recessive nonsyndromic hearing loss 89, Leukoencephalopathy, progressive, infantile-onset, with or without deafness, Deafness, congenital, and adult-onset progressive leukoencephalopathy, Charcot-Marie-Tooth disease recessive intermediate B, not provided, not specified	Uncertain significance (Dec 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22498315.	NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) GRCh37: Chr16:75669880 GRCh38: Chr16:75635982	KARS1	P200L, P228L, P44L	Autosomal recessive nonsyndromic hearing loss 89, not provided, Leukoencephalopathy, progressive, infantile-onset, with or without deafness, KARS-related disorders, Inborn genetic diseases, Charcot-Marie-Tooth disease recessive intermediate B, KARS1-related disorder	Pathogenic/Likely pathogenic (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 6075216.	NM_005548.3(KARS1):c.433T>C (p.Tyr145His) GRCh37: Chr16:75670401 GRCh38: Chr16:75636503	KARS1	Y173H, Y145H	Leukoencephalopathy, progressive, infantile-onset, with or without deafness, Nonsyndromic genetic hearing loss	Conflicting interpretations of pathogenicity (Jan 3, 2022)	criteria provided, conflicting interpretations