ClinVar for MedGen (Select 436997) - ClinVar

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Items: 48

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24409651.	NM_004700.4(KCNQ4):c.364C>T (p.Gln122Ter) GRCh37: Chr1:41282986 GRCh38: Chr1:40817314	KCNQ4	Q122*	Autosomal dominant nonsyndromic hearing loss 2A	Likely pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 24330312.	NM_004700.4(KCNQ4):c.1859T>A (p.Val620Asp) GRCh37: Chr1:41303450 GRCh38: Chr1:40837778	KCNQ4	V566D, V620D	Autosomal dominant nonsyndromic hearing loss 2A	Uncertain significance (Aug 20, 2019)	criteria provided, single submitter
Select item 18061813.	NM_004700.4(KCNQ4):c.670T>C (p.Trp224Arg) GRCh37: Chr1:41284314 GRCh38: Chr1:40818642	KCNQ4	W224R	Autosomal dominant nonsyndromic hearing loss 2A	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 17096644.	NM_004700.4(KCNQ4):c.799T>G (p.Phe267Val) GRCh37: Chr1:41285109 GRCh38: Chr1:40819437	KCNQ4	F267V	Autosomal dominant nonsyndromic hearing loss 2A	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 16992035.	NM_004700.4(KCNQ4):c.826T>C (p.Trp276Arg) GRCh37: Chr1:41285136 GRCh38: Chr1:40819464	KCNQ4	W276R	Autosomal dominant nonsyndromic hearing loss 2A	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 15668886.	NM_004700.4(KCNQ4):c.1232G>A (p.Arg411His) GRCh37: Chr1:41289870 GRCh38: Chr1:40824198	KCNQ4	R411H	Autosomal dominant nonsyndromic hearing loss 2A, not provided	Conflicting interpretations of pathogenicity (Feb 15, 2021)	criteria provided, conflicting interpretations
Select item 13398047.	NM_004700.4(KCNQ4):c.1502C>T (p.Thr501Ile) GRCh37: Chr1:41296965 GRCh38: Chr1:40831293	KCNQ4	T447I, T501I	Autosomal dominant nonsyndromic hearing loss 2A	not provided	no assertion provided
Select item 12977188.	NM_004700.4(KCNQ4):c.665G>A (p.Gly222Asp) GRCh37: Chr1:41284309 GRCh38: Chr1:40818637	KCNQ4	G222D	not provided, Autosomal dominant nonsyndromic hearing loss 2A	Uncertain significance (Dec 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11876139.	NM_004700.4(KCNQ4):c.1208C>T (p.Pro403Leu) GRCh37: Chr1:41289846 GRCh38: Chr1:40824174	KCNQ4	P403L	not provided, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 2A	Uncertain significance (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 118448010.	NM_004700.4(KCNQ4):c.857A>C (p.Tyr286Ser) GRCh37: Chr1:41285569 GRCh38: Chr1:40819897	KCNQ4	Y286S	Autosomal dominant nonsyndromic hearing loss 2A	Likely pathogenic	no assertion criteria provided
Select item 103225911.	NM_004700.4(KCNQ4):c.1565C>T (p.Thr522Met) GRCh37: Chr1:41298737 GRCh38: Chr1:40833065	KCNQ4	T522M, T468M	Autosomal dominant nonsyndromic hearing loss 2A	Uncertain significance (May 25, 2018)	criteria provided, single submitter
Select item 97918712.	NM_004700.4(KCNQ4):c.859G>A (p.Gly287Ser) GRCh37: Chr1:41285571 GRCh38: Chr1:40819899	KCNQ4	G287S	Autosomal dominant nonsyndromic hearing loss 2A	Likely pathogenic (Aug 3, 2020)	criteria provided, single submitter
Select item 62544113.	NM_004700.4(KCNQ4):c.261_269del (p.Tyr88_Val90del) GRCh37: Chr1:41250024-41250032 GRCh38: Chr1:40784352-40784360	KCNQ4		Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Dec 7, 2017)	no assertion criteria provided
Select item 59100214.	NM_004700.4(KCNQ4):c.796G>T (p.Asp266Tyr) GRCh37: Chr1:41285106 GRCh38: Chr1:40819434	KCNQ4	D266Y	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Dec 7, 2017)	no assertion criteria provided
Select item 58500615.	NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro) GRCh37: Chr1:41249905 GRCh38: Chr1:40784233	KCNQ4	L47P	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 50460316.	NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) GRCh37: Chr1:41284326 GRCh38: Chr1:40818654	KCNQ4	G228C	not provided, not specified, Autosomal dominant nonsyndromic hearing loss 2A	Uncertain significance (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20837317.	NM_004700.4(KCNQ4):c.2039C>T (p.Ser680Phe) GRCh37: Chr1:41304146 GRCh38: Chr1:40838474	KCNQ4	S680F, S626F	not provided	Likely pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 20837218.	NM_004700.4(KCNQ4):c.1044_1051del (p.Ala349Profs) GRCh37: Chr1:41287988-41287995 GRCh38: Chr1:40822313-40822320	KCNQ4		Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Aug 20, 2015)	no assertion criteria provided
Select item 20837119.	NM_004700.4(KCNQ4):c.891G>T (p.Arg297Ser) GRCh37: Chr1:41285603 GRCh38: Chr1:40819931	KCNQ4	R297S	not provided	Uncertain significance (Oct 16, 2020)	criteria provided, single submitter
Select item 20837020.	NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu) GRCh37: Chr1:41285584 GRCh38: Chr1:40819912	KCNQ4	P291L	not provided	Pathogenic (Jan 1, 2023)	criteria provided, single submitter
Select item 20836921.	NM_004700.4(KCNQ4):c.871C>T (p.Pro291Ser) GRCh37: Chr1:41285583 GRCh38: Chr1:40819911	KCNQ4	P291S	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Aug 20, 2015)	no assertion criteria provided
Select item 20836822.	NM_004700.4(KCNQ4):c.823T>C (p.Trp275Arg) GRCh37: Chr1:41285133 GRCh38: Chr1:40819461	KCNQ4	W275R	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Aug 20, 2015)	no assertion criteria provided
Select item 20836723.	NM_004700.4(KCNQ4):c.808T>C (p.Tyr270His) GRCh37: Chr1:41285118 GRCh38: Chr1:40819446	KCNQ4	Y270H	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Aug 20, 2015)	no assertion criteria provided
Select item 20836624.	NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del) GRCh37: Chr1:41285111-41285113 GRCh38: Chr1:40819439-40819441	KCNQ4	S269del	Nonsyndromic genetic hearing loss	Likely pathogenic (Nov 26, 2019)	reviewed by expert panel FDA Recognized Database
Select item 20836525.	NM_004700.4(KCNQ4):c.689T>A (p.Val230Glu) GRCh37: Chr1:41284333 GRCh38: Chr1:40818661	KCNQ4	V230E	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Aug 20, 2015)	no assertion criteria provided
Select item 20836426.	NM_004700.4(KCNQ4):c.228_229dup (p.His77fs) GRCh37: Chr1:41249989-41249990 GRCh38: Chr1:40784317-40784318	KCNQ4	H77fs	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Aug 20, 2015)	no assertion criteria provided
Select item 17869027.	NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg) GRCh37: Chr1:41285139 GRCh38: Chr1:40819467	KCNQ4	G277R	not specified, Autosomal dominant nonsyndromic hearing loss 2A	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 15633728.	NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg) GRCh37: Chr1:41285571 GRCh38: Chr1:40819899	KCNQ4	G287R	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Jun 20, 2013)	no assertion criteria provided
Select item 6589329.	NM_004700.4(KCNQ4):c.725G>A (p.Trp242Ter) GRCh37: Chr1:41285035 GRCh38: Chr1:40819363	KCNQ4	W242*	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Jun 20, 2013)	no assertion criteria provided
Select item 6588830.	c.667_684del(664_681del)			Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Jun 20, 2013)	no assertion criteria provided
Select item 4510531.	NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) GRCh37: Chr1:41285087 GRCh38: Chr1:40819415	KCNQ4		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4510432.	NM_004700.4(KCNQ4):c.708+14G>C GRCh37: Chr1:41284366 GRCh38: Chr1:40818694	KCNQ4		not specified, Autosomal dominant nonsyndromic hearing loss 2A, not provided	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4510233.	NM_004700.4(KCNQ4):c.1657C>T (p.Leu553=) GRCh37: Chr1:41300682 GRCh38: Chr1:40835010	KCNQ4		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4510134.	NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln) GRCh37: Chr1:41296828 GRCh38: Chr1:40831156	KCNQ4	H455Q, H401Q	not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2142735.	NM_004700.4(KCNQ4):c.785A>T (p.Asp262Val) GRCh37: Chr1:41285095 GRCh38: Chr1:40819423	KCNQ4	D262V	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Aug 20, 2015)	no assertion criteria provided
Select item 2142636.	NM_004700.4(KCNQ4):c.778G>A (p.Glu260Lys) GRCh37: Chr1:41285088 GRCh38: Chr1:40819416	KCNQ4	E260K	not provided	Uncertain significance (Jun 7, 2021)	criteria provided, single submitter
Select item 2142537.	NM_004700.4(KCNQ4):c.648C>T (p.Arg216=) GRCh37: Chr1:41284292 GRCh38: Chr1:40818620	KCNQ4		not provided, Autosomal dominant nonsyndromic hearing loss 2A	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 2142438.	NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu) GRCh37: Chr1:41284190 GRCh38: Chr1:40818518	KCNQ4	F182L	not specified, not provided	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 2142339.	NM_004700.4(KCNQ4):c.1503C>T (p.Thr501=) GRCh37: Chr1:41296966 GRCh38: Chr1:40831294	KCNQ4		Autosomal dominant nonsyndromic hearing loss 2A	not provided	no assertion provided
Select item 624940.	NM_004700.4(KCNQ4):c.886G>A (p.Gly296Ser) GRCh37: Chr1:41285598 GRCh38: Chr1:40819926	KCNQ4	G296S	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Aug 20, 2015)	no assertion criteria provided
Select item 624841.	NM_004700.4(KCNQ4):c.211del (p.Gln71fs) GRCh37: Chr1:41249975 GRCh38: Chr1:40784303	KCNQ4	Q71fs	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Jan 1, 2006)	no assertion criteria provided
Select item 624742.	NM_004700.4(KCNQ4):c.821T>A (p.Leu274His) GRCh37: Chr1:41285131 GRCh38: Chr1:40819459	KCNQ4	L274H	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Aug 20, 2015)	no assertion criteria provided
Select item 624643.	NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser) GRCh37: Chr1:41285554 GRCh38: Chr1:40819882	KCNQ4	L281S	not provided, Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 624544.	NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs) GRCh37: Chr1:41249976-41249988 GRCh38: Chr1:40784304-40784316	KCNQ4	Q71fs	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Nov 22, 2019)	no assertion criteria provided
Select item 624445.	NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys) GRCh37: Chr1:41285565 GRCh38: Chr1:40819893	KCNQ4	G285C	not provided	Pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 624346.	NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) GRCh37: Chr1:41285852 GRCh38: Chr1:40820180	KCNQ4	G321S	Rare genetic deafness, not provided	Likely pathogenic (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 624247.	NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) GRCh37: Chr1:41285137 GRCh38: Chr1:40819465	KCNQ4	W276S	Rare genetic deafness	Pathogenic (Jun 24, 2014)	criteria provided, single submitter
Select item 624148.	NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) GRCh37: Chr1:41285565 GRCh38: Chr1:40819893	KCNQ4	G285S	Nonsyndromic genetic hearing loss	Pathogenic (Sep 11, 2018)	reviewed by expert panel FDA Recognized Database

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Items: 48