ClinVar for MedGen (Select 462580) - ClinVar - NCBI

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Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25055431.	NM_198999.3(SLC26A5):c.2146del (p.Arg716fs) GRCh37: Chr7:103014935 GRCh38: Chr7:103374488	SLC26A5	R684fs, R716fs	Autosomal recessive nonsyndromic hearing loss 61	Likely pathogenic	criteria provided, single submitter
Select item 24360072.	NM_198999.3(SLC26A5):c.1936T>C (p.Phe646Leu) GRCh37: Chr7:103018096 GRCh38: Chr7:103377649	SLC26A5	F614L, F646L	Autosomal recessive nonsyndromic hearing loss 61	Uncertain significance (May 23, 2019)	criteria provided, single submitter
Select item 13837573.	NM_198999.3(SLC26A5):c.1061C>A (p.Thr354Asn) GRCh37: Chr7:103033424 GRCh38: Chr7:103392977	SLC26A5	T354N	not provided, Autosomal recessive nonsyndromic hearing loss 61	Uncertain significance (Mar 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12361714.	NM_198999.3(SLC26A5):c.949del (p.Val317fs) GRCh37: Chr7:103038401 GRCh38: Chr7:103397954	SLC26A5	V317fs	Autosomal recessive nonsyndromic hearing loss 61	Pathogenic	criteria provided, single submitter
Select item 12358175.	NM_198999.3(SLC26A5):c.1986+30T>C GRCh37: Chr7:103018016 GRCh38: Chr7:103377569	SLC26A5		Autosomal recessive nonsyndromic hearing loss 61, not provided	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10336736.	NM_198999.3(SLC26A5):c.92G>C (p.Arg31Thr) GRCh37: Chr7:103061870 GRCh38: Chr7:103421423	SLC26A5	R31T	Autosomal recessive nonsyndromic hearing loss 61	Uncertain significance (Jan 1, 2018)	criteria provided, single submitter
Select item 3583457.	NM_198999.3(SLC26A5):c.2066G>A (p.Arg689Gln) GRCh37: Chr7:103015015 GRCh38: Chr7:103374568	SLC26A5	R689Q, R657Q	Autosomal recessive nonsyndromic hearing loss 61, not provided	Uncertain significance (Jan 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1652728.	NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro) GRCh37: Chr7:103061825 GRCh38: Chr7:103421378	SLC26A5	L46P	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 61	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 970219.	NM_198999.3(SLC26A5):c.209G>A (p.Trp70Ter) GRCh37: Chr7:103061268 GRCh38: Chr7:103420821	SLC26A5	W70*	Autosomal recessive nonsyndromic hearing loss 61	Pathogenic (Oct 28, 2013)	no assertion criteria provided
Select item 9702010.	NM_198999.3(SLC26A5):c.390A>C (p.Arg130Ser) GRCh37: Chr7:103053462 GRCh38: Chr7:103413015	SLC26A5	R130S	Autosomal recessive nonsyndromic hearing loss 61	Pathogenic (Oct 28, 2013)	no assertion criteria provided
Select item 4834111.	NM_198999.3(SLC26A5):c.989A>G (p.Asn330Ser) GRCh37: Chr7:103033496 GRCh38: Chr7:103393049	SLC26A5	N330S	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 61	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4833912.	NM_198999.3(SLC26A5):c.403+14T>C GRCh37: Chr7:103053435 GRCh38: Chr7:103412988	SLC26A5		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 61	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 528913.	NM_198999.3(SLC26A5):c.-53-2A>G GRCh37: Chr7:103062016 GRCh38: Chr7:103421569	SLC26A5		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 61	Benign/Likely benign (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts