ClinVar for MedGen (Select 462701) - ClinVar - NCBI

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Items: 15

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16873721.	NM_005548.3(KARS1):c.1513C>G (p.Pro505Ala) GRCh37: Chr16:75663351 GRCh38: Chr16:75629453	KARS1	P349A, P505A, P533A	Autosomal recessive nonsyndromic hearing loss 89	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 16873652.	NM_005548.3(KARS1):c.1357G>C (p.Glu453Gln) GRCh37: Chr16:75664388 GRCh38: Chr16:75630490	KARS1, LOC126862402	E297Q, E453Q, E481Q	Autosomal recessive nonsyndromic hearing loss 89	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 16751883.	NM_005548.3(KARS1):c.1696-2A>C GRCh37: Chr16:75661893 GRCh38: Chr16:75627995	KARS1		Autosomal recessive nonsyndromic hearing loss 89	Pathogenic (Feb 14, 2022)	criteria provided, single submitter
Select item 10646514.	NM_005548.3(KARS1):c.797T>C (p.Ile266Thr) GRCh37: Chr16:75668189 GRCh38: Chr16:75634291	KARS1	I110T, I266T, I294T	not provided, Autosomal recessive nonsyndromic hearing loss 89	Uncertain significance (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7786135.	NM_005548.3(KARS1):c.223-8_223-6del GRCh37: Chr16:75674253-75674255 GRCh38: Chr16:75640355-75640357	KARS1		Charcot-Marie-Tooth disease recessive intermediate B, Leukoencephalopathy, progressive, infantile-onset, with or without deafness, Deafness, congenital, and adult-onset progressive leukoencephalopathy, Autosomal recessive nonsyndromic hearing loss 89, not provided	Benign/Likely benign (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6947466.	NM_005548.3(KARS1):c.1493C>T (p.Ala498Val) GRCh37: Chr16:75663371 GRCh38: Chr16:75629473	KARS1, LOC126862402	A526V, A498V, A342V	Global developmental delay, Leukodystrophy, Autosomal recessive nonsyndromic hearing loss 89, Autosomal recessive nonsyndromic hearing loss 89, Global developmental delay, Leukodystrophy, Sensorineural hearing loss disorder	Conflicting interpretations of pathogenicity (Jan 30, 2020)	criteria provided, conflicting interpretations
Select item 5620017.	NM_005548.3(KARS1):c.787T>G (p.Phe263Val) GRCh37: Chr16:75669586 GRCh38: Chr16:75635688	KARS1	F291V, F263V, F107V	not provided, Autosomal recessive nonsyndromic hearing loss 89	Conflicting interpretations of pathogenicity (Mar 30, 2021)	criteria provided, conflicting interpretations
Select item 4379328.	NM_005548.2(KARS1):c.[1430G>A];[1513C>T]			Leukoencephalopathy, Deafness	Pathogenic (Jun 1, 2017)	no assertion criteria provided
Select item 4379319.	NM_005548.3(KARS1):c.1430G>A (p.Arg477His) GRCh37: Chr16:75663434 GRCh38: Chr16:75629536	KARS1, LOC126862402	R477H, R505H, R321H	Autosomal recessive nonsyndromic hearing loss 89	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 32062610.	NM_005548.3(KARS1):c.1695+5G>A GRCh37: Chr16:75662462 GRCh38: Chr16:75628564	KARS1		Autosomal recessive nonsyndromic hearing loss 89	Likely benign (Jan 11, 2021)	criteria provided, single submitter
Select item 22875811.	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 specified, not provided	Uncertain significance (Dec 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22668212.	NM_005548.3(KARS1):c.1784C>G (p.Thr595Ser) GRCh37: Chr16:75661803 GRCh38: Chr16:75627905	KARS1	T623S, T595S, T439S	Autosomal recessive nonsyndromic hearing loss 89, not specified, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22498313.	NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) GRCh37: Chr16:75669880 GRCh38: Chr16:75635982	KARS1	P200L, P228L, P44L	KARS1-related disorder, Charcot-Marie-Tooth disease recessive intermediate B, Leukoencephalopathy, progressive, infantile-onset, with or without deafness, KARS-related disorders, not provided, Autosomal recessive nonsyndromic hearing loss 89, Inborn genetic diseases	Pathogenic/Likely pathogenic (Nov 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6075314.	NM_005548.3(KARS1):c.1045G>A (p.Asp349Asn) GRCh37: Chr16:75665624 GRCh38: Chr16:75631726	KARS1	D377N, D349N, D193N	not provided	Uncertain significance (Jun 12, 2019)	criteria provided, single submitter
Select item 6075215.	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