ClinVar for MedGen (Select 324662) - ClinVar

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Items: 22

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25724691.	NM_031475.3(ESPN):c.1649_1665del (p.Arg550fs) GRCh37: Chr1:6508877-6508893 GRCh38: Chr1:6448817-6448833	ESPN	R550fs	Autosomal recessive nonsyndromic hearing loss 36	Pathogenic	criteria provided, single submitter
Select item 24456332.	NM_031475.3(ESPN):c.2496C>G (p.Tyr832Ter) GRCh37: Chr1:6520137 GRCh38: Chr1:6460077	ESPN	Y832, Y811, Y802*	Autosomal recessive nonsyndromic hearing loss 36	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456253.	NM_031475.3(ESPN):c.1972G>A (p.Glu658Lys) GRCh37: Chr1:6511719 GRCh38: Chr1:6451659	ESPN	E637K, E628K, E658K	Autosomal recessive nonsyndromic hearing loss 36	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 14436674.	NM_031475.2(ESPN):c.2339_2341delAGG GRCh37: Chr1:6517242-6517244 GRCh38: Chr1:6457182-6457184	ESPN		Autosomal recessive nonsyndromic hearing loss 36, not provided	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13428405.	NM_031475.3(ESPN):c.1870G>A (p.Ala624Thr) GRCh37: Chr1:6509106 GRCh38: Chr1:6449046	ESPN	A594T, A624T	Autosomal recessive nonsyndromic hearing loss 36	Uncertain significance (Sep 27, 2021)	criteria provided, single submitter
Select item 13335586.	NM_031475.3(ESPN):c.2524C>T (p.Arg842Ter) GRCh37: Chr1:6520165 GRCh38: Chr1:6460105	ESPN	R812, R821, R842*	Autosomal recessive nonsyndromic hearing loss 36	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 13077827.	NM_031475.3(ESPN):c.2069C>T (p.Ser690Leu) GRCh37: Chr1:6511900 GRCh38: Chr1:6451840	ESPN	S660L, S669L, S690L	not provided, Usher syndrome, type 1M, Autosomal recessive nonsyndromic hearing loss 36	Uncertain significance (Dec 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12993078.	NM_031475.3(ESPN):c.2081_2082del (p.Ser694fs) GRCh37: Chr1:6511911-6511912 GRCh38: Chr1:6451851-6451852	ESPN	S664fs, S673fs, S694fs	Autosomal recessive nonsyndromic hearing loss 36	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 12191079.	NM_031475.3(ESPN):c.1803GCC[5] (p.Pro605dup) GRCh37: Chr1:6509036-6509037 GRCh38: Chr1:6448976-6448977	ESPN		Autosomal recessive nonsyndromic hearing loss 36, Usher syndrome, type 1M, not provided	Likely benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102841510.	NM_031475.3(ESPN):c.1426A>C (p.Lys476Gln) GRCh37: Chr1:6505957 GRCh38: Chr1:6445897	ESPN	K476Q	Autosomal recessive nonsyndromic hearing loss 36	Uncertain significance (Apr 5, 2020)	criteria provided, single submitter
Select item 101272211.	NM_031475.3(ESPN):c.1386A>G (p.Val462=) GRCh37: Chr1:6505917 GRCh38: Chr1:6445857	ESPN		not provided, Autosomal recessive nonsyndromic hearing loss 36, Usher syndrome, type 1M	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98470212.	NM_031475.3(ESPN):c.1916-1G>C GRCh37: Chr1:6511662 GRCh38: Chr1:6451602	ESPN		Autosomal recessive nonsyndromic hearing loss 36	Pathogenic (Jun 1, 2020)	criteria provided, single submitter
Select item 62313213.	NM_031475.3(ESPN):c.2446G>T (p.Glu816Ter) GRCh37: Chr1:6520087 GRCh38: Chr1:6460027	ESPN	E816, E795, E786*	Autosomal recessive nonsyndromic hearing loss 36	Likely pathogenic (Sep 19, 2018)	criteria provided, single submitter
Select item 56207614.	NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer) GRCh37: Chr1:6520137 GRCh38: Chr1:6460077	ESPN		Hearing loss, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 36	Pathogenic/Likely pathogenic (Jul 5, 2018)	no assertion criteria provided
Select item 51705215.	NM_031475.3(ESPN):c.1286C>T (p.Thr429Ile) GRCh37: Chr1:6505817 GRCh38: Chr1:6445757	ESPN	T429I	Autosomal recessive nonsyndromic hearing loss 36, Usher syndrome, type 1M, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44981816.	NM_031475.3(ESPN):c.935C>T (p.Ser312Leu) GRCh37: Chr1:6501070 GRCh38: Chr1:6441010	ESPN	S312L	not provided, Autosomal recessive nonsyndromic hearing loss 36	Uncertain significance (Aug 5, 2019)	criteria provided, multiple submitters, no conflicts
Select item 22663517.	NM_031475.3(ESPN):c.2070G>A (p.Ser690=) GRCh37: Chr1:6511901 GRCh38: Chr1:6451841	ESPN		Usher syndrome, type 1M, Autosomal recessive nonsyndromic hearing loss 36, not specified, not provided	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16341218.	NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser) GRCh37: Chr1:6504598 GRCh38: Chr1:6444538	ESPN	P350S	not provided, not specified	Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 442319.	NM_031475.3(ESPN):c.2539AAG[1] (p.Lys848del) GRCh37: Chr1:6520179-6520181 GRCh38: Chr1:6460119-6460121	ESPN	K818del, K848del, K827del	Autosomal recessive nonsyndromic hearing loss 36	Likely pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 442120.	NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn) GRCh37: Chr1:6512061 GRCh38: Chr1:6452001	ESPN	D744N, D714N, D723N	Autosomal recessive nonsyndromic hearing loss 36, Usher syndrome, type 1M, not provided	Uncertain significance (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 441921.	NM_031475.3(ESPN):c.1988_1991del (p.Lys663fs) GRCh37: Chr1:6511735-6511738 GRCh38: Chr1:6451675-6451678	ESPN	K642fs, K663fs, K633fs	Autosomal recessive nonsyndromic hearing loss 36	Pathogenic (Aug 1, 2004)	no assertion criteria provided
Select item 441822.	NM_031475.3(ESPN):c.2470_2473del (p.Ser824fs) GRCh37: Chr1:6520108-6520111 GRCh38: Chr1:6460048-6460051	ESPN	S794fs, S824fs, S803fs	Autosomal recessive nonsyndromic hearing loss 36	Pathogenic (Aug 1, 2004)	no assertion criteria provided

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Items: 22