ClinVar for MedGen (Select 761234) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25029011.	NM_000441.2(SLC26A4):c.248G>A (p.Trp83Ter) GRCh37: Chr7:107303824 GRCh38: Chr7:107663379	SLC26A4	W83*	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic (Mar 23, 2022)	criteria provided, single submitter
Select item 24456322.	NM_000441.2(SLC26A4):c.1730T>G (p.Val577Gly) GRCh37: Chr7:107341568 GRCh38: Chr7:107701123	SLC26A4	V577G	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456313.	NM_000441.2(SLC26A4):c.1717G>C (p.Asp573His) GRCh37: Chr7:107341555 GRCh38: Chr7:107701110	SLC26A4	D573H	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456304.	NM_000441.2(SLC26A4):c.203T>C (p.Leu68Pro) GRCh37: Chr7:107303779 GRCh38: Chr7:107663334	SLC26A4	L68P	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24415435.	NM_012188.5(FOXI1):c.80A>C (p.Glu27Ala) GRCh37: Chr5:169533041 GRCh38: Chr5:170106037	FOXI1	E27A	Autosomal recessive nonsyndromic hearing loss 4	Uncertain significance (Jun 21, 2021)	criteria provided, single submitter
Select item 18039296.	NM_000441.2(SLC26A4):c.584T>C (p.Leu195Pro) GRCh37: Chr7:107314777 GRCh38: Chr7:107674332	SLC26A4	L195P	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic (Dec 19, 2022)	criteria provided, single submitter
Select item 17995367.	NM_000441.2(SLC26A4):c.208C>T (p.Pro70Ser) GRCh37: Chr7:107303784 GRCh38: Chr7:107663339	SLC26A4	P70S	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 17995358.	NM_000441.2(SLC26A4):c.107A>C (p.His36Pro) GRCh37: Chr7:107302193 GRCh38: Chr7:107661748	SLC26A4, SLC26A4-AS1	H36P	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 17053369.	NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=) GRCh37: Chr7:107341641 GRCh38: Chr7:107701196	SLC26A4		Autosomal recessive nonsyndromic hearing loss 4	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 169900610.	NM_000441.2(SLC26A4):c.736A>C (p.Asn246His) GRCh37: Chr7:107315525 GRCh38: Chr7:107675080	SLC26A4	N246H	Autosomal recessive nonsyndromic hearing loss 4	Uncertain significance (May 25, 2020)	criteria provided, single submitter
Select item 168745311.	NM_000441.2(SLC26A4):c.1586T>C (p.Ile529Thr) GRCh37: Chr7:107338528 GRCh38: Chr7:107698083	SLC26A4	I529T	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168512612.	NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys) GRCh37: Chr7:107329620 GRCh38: Chr7:107689175	SLC26A4	Y375C	not specified, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4	Uncertain significance (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162216113.	NM_012188.5(FOXI1):c.231C>G (p.Pro77=) GRCh37: Chr5:169533192 GRCh38: Chr5:170106188	FOXI1		Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4, not provided	Likely benign (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155928714.	NM_012188.5(FOXI1):c.823G>A (p.Ala275Thr) GRCh37: Chr5:169535301 GRCh38: Chr5:170108297	FOXI1	A275T	not provided, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome	Likely benign (Jun 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152624415.	NM_000441.2(SLC26A4):c.617T>A (p.Leu206Ter) GRCh37: Chr7:107315406 GRCh38: Chr7:107674961	SLC26A4	L206*	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 144929516.	NM_002241.5(KCNJ10):c.635A>G (p.Gln212Arg) GRCh37: Chr1:160011688 GRCh38: Chr1:160041898	KCNJ10	Q212R	EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, EAST syndrome	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138437117.	NM_002241.5(KCNJ10):c.178A>G (p.Ile60Val) GRCh37: Chr1:160012145 GRCh38: Chr1:160042355	KCNJ10	I60V	Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, EAST syndrome, EAST syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138215118.	NM_002241.5(KCNJ10):c.248G>C (p.Gly83Ala) GRCh37: Chr1:160012075 GRCh38: Chr1:160042285	KCNJ10	G83A	Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, EAST syndrome, EAST syndrome	Uncertain significance (Jan 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138124719.	NM_012188.5(FOXI1):c.763G>A (p.Ala255Thr) GRCh37: Chr5:169535241 GRCh38: Chr5:170108237	FOXI1	A255T	not provided, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome	Uncertain significance (Apr 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 133412720.	NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu) GRCh37: Chr7:107303860 GRCh38: Chr7:107663415	SLC26A4	G95E	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 133410921.	NM_000441.2(SLC26A4):c.1054del (p.Ala352fs) GRCh37: Chr7:107329550 GRCh38: Chr7:107689105	SLC26A4	A352fs	Autosomal recessive nonsyndromic hearing loss 4, not provided	Pathogenic (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133410822.	NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser) GRCh37: Chr7:107312612 GRCh38: Chr7:107672167	SLC26A4	P112S	not provided, Autosomal recessive nonsyndromic hearing loss 4	Pathogenic/Likely pathogenic (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133351823.	NM_000441.2(SLC26A4):c.2028del (p.Arg677fs) GRCh37: Chr7:107342496 GRCh38: Chr7:107702051	SLC26A4	R677fs	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 133148924.	NM_000441.2(SLC26A4):c.1286C>A (p.Ala429Glu) GRCh37: Chr7:107334870 GRCh38: Chr7:107694425	SLC26A4	A429E	Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, not specified	Uncertain significance (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131317025.	NM_000441.2(SLC26A4):c.803A>G (p.Asn268Ser) GRCh37: Chr7:107323684 GRCh38: Chr7:107683239	SLC26A4	N268S	Inborn genetic diseases, not provided, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130967126.	NM_000441.2(SLC26A4):c.2234C>T (p.Thr745Met) GRCh37: Chr7:107350643 GRCh38: Chr7:107710198	SLC26A4	T745M	not provided, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4	Uncertain significance (Aug 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 130184927.	NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) GRCh37: Chr7:107303880 GRCh38: Chr7:107663435	SLC26A4	G102R	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 4	Pathogenic/Likely pathogenic (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129707428.	NM_000441.2(SLC26A4):c.2107C>G (p.Leu703Val) GRCh37: Chr7:107350516 GRCh38: Chr7:107710071	LOC123956210, SLC26A4	L703V	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 129707329.	NM_000441.2(SLC26A4):c.1985G>A (p.Cys662Tyr) GRCh37: Chr7:107342453 GRCh38: Chr7:107702008	SLC26A4	C662Y	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 129707230.	NM_000441.2(SLC26A4):c.1716T>A (p.Phe572Leu) GRCh37: Chr7:107341554 GRCh38: Chr7:107701109	SLC26A4	F572L	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 129707031.	NM_000441.2(SLC26A4):c.1369A>G (p.Asn457Asp) GRCh37: Chr7:107335093 GRCh38: Chr7:107694648	SLC26A4	N457D	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 129706932.	NM_000441.2(SLC26A4):c.812A>G (p.Asp271Gly) GRCh37: Chr7:107323693 GRCh38: Chr7:107683248	SLC26A4	D271G	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 129706833.	NM_000441.2(SLC26A4):c.624_632delinsACTTGGC (p.Gly209fs) GRCh37: Chr7:107315413-107315421 GRCh38: Chr7:107674968-107674976	SLC26A4	G209fs	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 129706734.	NM_000441.2(SLC26A4):c.421T>C (p.Phe141Leu) GRCh37: Chr7:107314614 GRCh38: Chr7:107674169	SLC26A4	F141L	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 129706635.	NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg) GRCh37: Chr7:107303855 GRCh38: Chr7:107663410	SLC26A4	S93R	not provided	Likely pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 129706536.	NM_000441.2(SLC26A4):c.1594A>C (p.Ser532Arg) GRCh37: Chr7:107338536 GRCh38: Chr7:107698091	SLC26A4	S532R	not provided	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 129706437.	NM_000441.2(SLC26A4):c.1327G>C (p.Glu443Gln) GRCh37: Chr7:107334911 GRCh38: Chr7:107694466	SLC26A4	E443Q	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 129706338.	NM_000441.2(SLC26A4):c.614G>T (p.Gly205Val) GRCh37: Chr7:107315403 GRCh38: Chr7:107674958	SLC26A4	G205V	Autosomal recessive nonsyndromic hearing loss 4	Uncertain significance	no assertion criteria provided
Select item 121732639.	NM_000441.2(SLC26A4):c.1915G>T (p.Asp639Tyr) GRCh37: Chr7:107342383 GRCh38: Chr7:107701938	SLC26A4	D639Y	Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome	Uncertain significance (Jul 22, 2021)	criteria provided, single submitter
Select item 121016040.	NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val) GRCh37: Chr7:107329499 GRCh38: Chr7:107689054	SLC26A4	F335V	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic	criteria provided, single submitter
Select item 120984041.	NM_000441.2(SLC26A4):c.1861A>G (p.Ile621Val) GRCh37: Chr7:107342329 GRCh38: Chr7:107701884	SLC26A4	I621V	Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome	Uncertain significance (Jul 22, 2021)	criteria provided, single submitter
Select item 120983942.	NM_000441.2(SLC26A4):c.188G>C (p.Gly63Ala) GRCh37: Chr7:107303764 GRCh38: Chr7:107663319	SLC26A4	G63A	Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome	Uncertain significance (Jul 22, 2021)	criteria provided, single submitter
Select item 120971043.	NM_000441.2(SLC26A4):c.794G>C (p.Gly265Ala) GRCh37: Chr7:107323675 GRCh38: Chr7:107683230	SLC26A4	G265A	Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome	Uncertain significance (Jul 22, 2021)	criteria provided, single submitter
Select item 120262244.	NM_000441.2(SLC26A4):c.1662T>G (p.Ile554Met) GRCh37: Chr7:107340575 GRCh38: Chr7:107700130	SLC26A4	I554M	Autosomal recessive nonsyndromic hearing loss 4	Uncertain significance	criteria provided, single submitter
Select item 119604445.	NM_000441.2(SLC26A4):c.340G>A (p.Gly114Arg) GRCh37: Chr7:107312618 GRCh38: Chr7:107672173	SLC26A4	G114R	not provided, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome	Uncertain significance (Nov 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118569546.	NM_000441.2(SLC26A4):c.2039del (p.Val680fs) GRCh37: Chr7:107344780 GRCh38: Chr7:107704335	SLC26A4	V680fs	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 118569447.	NM_000441.2(SLC26A4):c.1828del (p.Ser610fs) GRCh37: Chr7:107342294 GRCh38: Chr7:107701849	SLC26A4	S610fs	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 118569348.	NM_000441.2(SLC26A4):c.1803+1G>C GRCh37: Chr7:107341642 GRCh38: Chr7:107701197	SLC26A4		Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 118569249.	NM_000441.2(SLC26A4):c.1657C>T (p.Pro553Ser) GRCh37: Chr7:107340570 GRCh38: Chr7:107700125	SLC26A4	P553S	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic	no assertion criteria provided
Select item 118569150.	NM_000441.2(SLC26A4):c.1552T>G (p.Trp518Gly) GRCh37: Chr7:107338494 GRCh38: Chr7:107698049	SLC26A4	W518G	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic	no assertion criteria provided
Select item 118569051.	NM_000441.2(SLC26A4):c.1342-1_1342insCTG GRCh37: Chr7:107335064-107335065 GRCh38: Chr7:107694619-107694620	SLC26A4		Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 118567552.	NM_000441.2(SLC26A4):c.1325T>C (p.Leu442Pro) GRCh37: Chr7:107334909 GRCh38: Chr7:107694464	SLC26A4	L442P	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic	no assertion criteria provided
Select item 118567453.	NM_000441.2(SLC26A4):c.1002G>T (p.Gly334=) GRCh37: Chr7:107329498 GRCh38: Chr7:107689053	SLC26A4		Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic	no assertion criteria provided
Select item 118567354.	NM_000441.2(SLC26A4):c.698_701del (p.Val233fs) GRCh37: Chr7:107315487-107315490 GRCh38: Chr7:107675042-107675045	SLC26A4	V233fs	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 118567255.	NM_000441.2(SLC26A4):c.667_669dup (p.Phe223dup) GRCh37: Chr7:107315454-107315455 GRCh38: Chr7:107675009-107675010	SLC26A4		Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 118567156.	NM_000441.2(SLC26A4):c.600+2T>C GRCh37: Chr7:107314795 GRCh38: Chr7:107674350	SLC26A4		Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 118567057.	NM_000441.2(SLC26A4):c.401G>C (p.Arg134Thr) GRCh37: Chr7:107312679 GRCh38: Chr7:107672234	SLC26A4	R134T	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic	no assertion criteria provided
Select item 118566958.	NM_000441.2(SLC26A4):c.305-1G>A GRCh37: Chr7:107312582 GRCh38: Chr7:107672137	SLC26A4		Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 118566859.	NM_000441.2(SLC26A4):c.79T>C (p.Tyr27His) GRCh37: Chr7:107302165 GRCh38: Chr7:107661720	SLC26A4, SLC26A4-AS1	Y27H	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 118566760.	NM_000441.2(SLC26A4):c.3G>A (p.Met1Ile) GRCh37: Chr7:107302089 GRCh38: Chr7:107661644	SLC26A4, SLC26A4-AS1	M1I	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 118507361.	NM_000441.2(SLC26A4):c.593_600+8del GRCh37: Chr7:107314783-107314798 GRCh38: Chr7:107674338-107674353	SLC26A4		Autosomal recessive nonsyndromic hearing loss 4	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 115322062.	NM_000441.2(SLC26A4):c.990C>T (p.Ser330=) GRCh37: Chr7:107323971 GRCh38: Chr7:107683526	SLC26A4		not provided, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome	Likely benign (Sep 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113248963.	NM_000441.2(SLC26A4):c.768G>A (p.Thr256=) GRCh37: Chr7:107323649 GRCh38: Chr7:107683204	SLC26A4		not provided, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4	Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107554164.	NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter) GRCh37: Chr7:107303746 GRCh38: Chr7:107663301	SLC26A4	S57*	not provided, Autosomal recessive nonsyndromic hearing loss 4	Pathogenic (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106521365.	NM_000441.2(SLC26A4):c.1299dup (p.Ala434fs) GRCh37: Chr7:107334882-107334883 GRCh38: Chr7:107694437-107694438	SLC26A4	A434fs	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 106521266.	NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) GRCh37: Chr7:107342459 GRCh38: Chr7:107702014	SLC26A4	A664V	not provided	Pathogenic/Likely pathogenic (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106521167.	NM_000441.2(SLC26A4):c.415+2T>C GRCh37: Chr7:107312695 GRCh38: Chr7:107672250	SLC26A4		Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 106521068.	NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro) GRCh37: Chr7:107315543 GRCh38: Chr7:107675098	SLC26A4	S252P	Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, not provided	Pathogenic (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106520969.	NM_000441.2(SLC26A4):c.1264-12T>A GRCh37: Chr7:107334836 GRCh38: Chr7:107694391	SLC26A4		Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	no assertion criteria provided
Select item 106520870.	NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser) GRCh37: Chr7:107342468 GRCh38: Chr7:107702023	SLC26A4	F667S	not provided	Uncertain significance (Apr 2, 2019)	criteria provided, single submitter
Select item 106520771.	NM_000441.2(SLC26A4):c.387del (p.Phe130fs) GRCh37: Chr7:107312665 GRCh38: Chr7:107672220	SLC26A4	F130fs	not provided	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 106520672.	NM_000441.2(SLC26A4):c.2162C>A (p.Thr721Lys) GRCh37: Chr7:107350571 GRCh38: Chr7:107710126	SLC26A4, LOC123956210	T721K	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic	criteria provided, single submitter
Select item 106520573.	NM_000441.2(SLC26A4):c.1656T>G (p.Ser552Arg) GRCh37: Chr7:107340569 GRCh38: Chr7:107700124	SLC26A4	S552R	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic	criteria provided, single submitter
Select item 106520474.	NM_000441.2(SLC26A4):c.317C>A (p.Ala106Asp) GRCh37: Chr7:107312595 GRCh38: Chr7:107672150	SLC26A4	A106D	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106520375.	NM_000441.2(SLC26A4):c.1786C>T (p.Gln596Ter) GRCh37: Chr7:107341624 GRCh38: Chr7:107701179	SLC26A4	Q596*	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic	criteria provided, single submitter
Select item 106520276.	NM_000441.2(SLC26A4):c.87G>C (p.Glu29Asp) GRCh37: Chr7:107302173 GRCh38: Chr7:107661728	SLC26A4, SLC26A4-AS1	E29D	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic	criteria provided, single submitter
Select item 106496277.	NM_012188.5(FOXI1):c.307G>T (p.Gly103Trp) GRCh37: Chr5:169533268 GRCh38: Chr5:170106264	FOXI1	G103W	Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, Hearing impairment	Uncertain significance (Jul 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106465578.	NM_000441.2(SLC26A4):c.1371C>G (p.Asn457Lys) GRCh37: Chr7:107335095 GRCh38: Chr7:107694650	SLC26A4	N457K	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic (Mar 30, 2021)	criteria provided, single submitter
Select item 105868979.	NM_002241.5(KCNJ10):c.79C>T (p.Arg27Trp) GRCh37: Chr1:160012244 GRCh38: Chr1:160042454	KCNJ10	R27W	Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, EAST syndrome, EAST syndrome	Uncertain significance (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105238280.	NM_002241.5(KCNJ10):c.1028G>A (p.Arg343His) GRCh37: Chr1:160011295 GRCh38: Chr1:160041505	KCNJ10	R343H	EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, EAST syndrome	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104878081.	NM_000441.2(SLC26A4):c.2069T>A (p.Val690Glu) GRCh37: Chr7:107344810 GRCh38: Chr7:107704365	SLC26A4	V690E	Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic	no assertion criteria provided
Select item 104131582.	NM_002241.5(KCNJ10):c.541T>C (p.Phe181Leu) GRCh37: Chr1:160011782 GRCh38: Chr1:160041992	KCNJ10	F181L	Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome, Pendred syndrome, EAST syndrome	Uncertain significance (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103853483.	NM_002241.5(KCNJ10):c.83G>A (p.Arg28Gln) GRCh37: Chr1:160012240 GRCh38: Chr1:160042450	KCNJ10	R28Q	EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, EAST syndrome	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103303084.	NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs) GRCh37: Chr7:107350588-107350589 GRCh38: Chr7:107710143-107710144	LOC123956210, SLC26A4	Q730fs	Autosomal recessive nonsyndromic hearing loss 4	Pathogenic (Feb 7, 2018)	criteria provided, single submitter
Select item 103302985.	NM_000441.2(SLC26A4):c.1615-2A>G GRCh37: Chr7:107340526 GRCh38: Chr7:107700081	SLC26A4		not provided, Autosomal recessive nonsyndromic hearing loss 4	Pathogenic/Likely pathogenic (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102875586.	NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe) GRCh37: Chr7:107330653 GRCh38: Chr7:107690208	SLC26A4	V412F	Autosomal recessive nonsyndromic hearing loss 4, not provided	Uncertain significance (Oct 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 101704787.	NM_002241.5(KCNJ10):c.5C>G (p.Thr2Arg) GRCh37: Chr1:160012318 GRCh38: Chr1:160042528	KCNJ10	T2R	EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, EAST syndrome	Uncertain significance (Oct 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99800288.	NM_000441.2(SLC26A4):c.[2168A>G;2326C>G] GRCh37: Chr7:107350577 Chr7:107355874 GRCh38: Chr7:107710132 Chr7:107715429	LOC123956210, SLC26A4, SLC26A4	H723R, R776G	Pendred syndrome	Likely pathogenic (May 31, 2019)	no assertion criteria provided
Select item 99663889.	NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val) GRCh37: Chr7:107314609 GRCh38: Chr7:107674164	SLC26A4	G139V	not provided, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome	Pathogenic/Likely pathogenic (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94974190.	NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp) GRCh37: Chr7:107350576 GRCh38: Chr7:107710131	LOC123956210, SLC26A4	H723D	not provided, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4	Pathogenic (Aug 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 93408491.	NM_002241.5(KCNJ10):c.241C>T (p.Leu81Phe) GRCh37: Chr1:160012082 GRCh38: Chr1:160042292	KCNJ10	L81F	Inborn genetic diseases, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome, EAST syndrome	Uncertain significance (Nov 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91219592.	NM_000441.2(SLC26A4):c.*1945G>A GRCh37: Chr7:107357836 GRCh38: Chr7:107717391	SLC26A4		Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91219493.	NM_000441.2(SLC26A4):c.*1905G>A GRCh37: Chr7:107357796 GRCh38: Chr7:107717351	SLC26A4		Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91213294.	NM_000441.2(SLC26A4):c.*1466T>A GRCh37: Chr7:107357357 GRCh38: Chr7:107716912	SLC26A4		Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91213195.	NM_000441.2(SLC26A4):c.*1302T>G GRCh37: Chr7:107357193 GRCh38: Chr7:107716748	SLC26A4		Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome	Benign/Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 91206796.	NM_000441.2(SLC26A4):c.*376A>G GRCh37: Chr7:107356267 GRCh38: Chr7:107715822	SLC26A4		Autosomal recessive nonsyndromic hearing loss 4, not provided, Pendred syndrome	Conflicting interpretations of pathogenicity (May 21, 2021)	criteria provided, conflicting interpretations
Select item 91206697.	NM_000441.2(SLC26A4):c.*351G>A GRCh37: Chr7:107356242 GRCh38: Chr7:107715797	SLC26A4		Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91206598.	NM_000441.2(SLC26A4):c.*350C>T GRCh37: Chr7:107356241 GRCh38: Chr7:107715796	SLC26A4		Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4, not provided	Conflicting interpretations of pathogenicity (Sep 4, 2021)	criteria provided, conflicting interpretations
Select item 91200899.	NM_000441.2(SLC26A4):c.2236-6T>C GRCh37: Chr7:107352978 GRCh38: Chr7:107712533	SLC26A4		Pendred syndrome, not provided, Autosomal recessive nonsyndromic hearing loss 4	Conflicting interpretations of pathogenicity (Jul 21, 2021)	criteria provided, conflicting interpretations
Select item 912007100.	NM_000441.2(SLC26A4):c.2236-15G>A GRCh37: Chr7:107352969 GRCh38: Chr7:107712524	SLC26A4		Pendred syndrome, not provided, Autosomal recessive nonsyndromic hearing loss 4	Conflicting interpretations of pathogenicity (Aug 4, 2022)	criteria provided, conflicting interpretations

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