ClinVar for MedGen (Select 387899) - ClinVar

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Items: 52

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13295071.	NM_001042702.5(PJVK):c.950del (p.Phe317fs) GRCh37: Chr2:179325891 GRCh38: Chr2:178461164	PJVK	F158fs, F317fs, F319fs, F320fs	Autosomal recessive nonsyndromic hearing loss 59	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 13295062.	NM_001042702.5(PJVK):c.880C>G (p.His294Asp) GRCh37: Chr2:179325822 GRCh38: Chr2:178461095	PJVK	H135D, H294D, H296D, H297D	Autosomal recessive nonsyndromic hearing loss 59	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 13295053.	NM_001042702.5(PJVK):c.880del (p.His294fs) GRCh37: Chr2:179325820 GRCh38: Chr2:178461093	PJVK	H135fs, H294fs, H296fs, H297fs	Autosomal recessive nonsyndromic hearing loss 59	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 13295044.	NM_001042702.5(PJVK):c.671T>G (p.Leu224Arg) GRCh37: Chr2:179325078 GRCh38: Chr2:178460351	PJVK	L224R, L227R, L65R	Autosomal recessive nonsyndromic hearing loss 59	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 12992365.	NM_001042702.5(PJVK):c.946A>C (p.Asn316His) GRCh37: Chr2:179325888 GRCh38: Chr2:178461161	PJVK	N157H, N316H, N318H, N319H	not provided, Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Sep 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11856426.	NM_001042702.5(PJVK):c.880C>A (p.His294Asn) GRCh37: Chr2:179325822 GRCh38: Chr2:178461095	PJVK	H135N, H294N, H296N, H297N	Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance	no assertion criteria provided
Select item 8945107.	NM_001042702.5(PJVK):c.525T>G (p.Ala175=) GRCh37: Chr2:179320854 GRCh38: Chr2:178456127	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8945098.	NM_001042702.5(PJVK):c.450C>T (p.Ser150=) GRCh37: Chr2:179320779 GRCh38: Chr2:178456052	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8941149.	NM_001042702.5(PJVK):c.297C>T (p.Asp99=) GRCh37: Chr2:179319144 GRCh38: Chr2:178454417	PJVK		not provided, Autosomal recessive nonsyndromic hearing loss 59	Conflicting interpretations of pathogenicity (Nov 22, 2021)	criteria provided, conflicting interpretations
Select item 89411310.	NM_001042702.5(PJVK):c.216T>C (p.Ile72=) GRCh37: Chr2:179319063 GRCh38: Chr2:178454336	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89309011.	NM_001042702.5(PJVK):c.*20G>A GRCh37: Chr2:179326021 GRCh38: Chr2:178461294	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89308912.	NM_001042702.5(PJVK):c.887G>C (p.Arg296Pro) GRCh37: Chr2:179325829 GRCh38: Chr2:178461102	PJVK	R299P, R137P, R298P, R296P	Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89304413.	NM_001042702.5(PJVK):c.-84C>T GRCh37: Chr2:179316435 GRCh38: Chr2:178451708	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89304314.	NM_001042702.5(PJVK):c.-232A>G GRCh37: Chr2:179316287 GRCh38: Chr2:178451560	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 56209515.	NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del) GRCh37: Chr2:179325847-179325849 GRCh38: Chr2:178461120-178461122	PJVK	N303del, N306del, N144del, N305del	Hearing loss, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 59	Pathogenic/Likely pathogenic (Jul 5, 2018)	no assertion criteria provided
Select item 56090516.	NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter) GRCh37: Chr2:179319253 GRCh38: Chr2:178454526	PJVK	R136, R139, R171*	Autosomal recessive nonsyndromic hearing loss 59	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 49935617.	NM_001042702.5(PJVK):c.548G>A (p.Arg183Gln) GRCh37: Chr2:179320877 GRCh38: Chr2:178456150	PJVK	R183Q, R218Q, R186Q, R24Q	Autosomal recessive nonsyndromic hearing loss 59, not specified, not provided	Uncertain significance (Feb 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36931918.	NM_001042702.5(PJVK):c.-28C>G GRCh37: Chr2:179316491 GRCh38: Chr2:178451764	PJVK, PRKRA		Dystonic disorder, Autosomal recessive nonsyndromic hearing loss 59	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33266119.	NM_001042702.5(PJVK):c.778A>G (p.Met260Val) GRCh37: Chr2:179325720 GRCh38: Chr2:178460993	PJVK	M260V, M101V, M263V, M262V	not provided, Autosomal recessive nonsyndromic hearing loss 59	Conflicting interpretations of pathogenicity (Oct 6, 2020)	criteria provided, conflicting interpretations
Select item 33266020.	NM_001042702.5(PJVK):c.753C>A (p.Ile251=) GRCh37: Chr2:179325160 GRCh38: Chr2:178460433	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33265921.	NM_001042702.5(PJVK):c.298G>A (p.Val100Ile) GRCh37: Chr2:179319145 GRCh38: Chr2:178454418	PJVK	V100I, V135I, V103I	not provided, Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Aug 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33265822.	NM_001042702.5(PJVK):c.-22-6T>A GRCh37: Chr2:179318109 GRCh38: Chr2:178453382	PJVK		not provided, Autosomal recessive nonsyndromic hearing loss 59	Conflicting interpretations of pathogenicity (Jun 16, 2020)	criteria provided, conflicting interpretations
Select item 33265723.	NM_001042702.5(PJVK):c.-45T>A GRCh37: Chr2:179316474 GRCh38: Chr2:178451747	PJVK		Nonsyndromic Hearing Loss, Recessive, Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33265624.	NM_001042702.5(PJVK):c.-49G>T GRCh37: Chr2:179316470 GRCh38: Chr2:178451743	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33265525.	NM_001042702.5(PJVK):c.-64C>T GRCh37: Chr2:179316455 GRCh38: Chr2:178451728	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33265426.	NM_001042702.5(PJVK):c.-73C>T GRCh37: Chr2:179316446 GRCh38: Chr2:178451719	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33265327.	NM_001042702.5(PJVK):c.-82C>T GRCh37: Chr2:179316437 GRCh38: Chr2:178451710	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33265228.	NM_001042702.5(PJVK):c.-112G>T GRCh37: Chr2:179316407 GRCh38: Chr2:178451680	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33265129.	NM_001042702.5(PJVK):c.-124G>A GRCh37: Chr2:179316395 GRCh38: Chr2:178451668	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33265030.	NM_001042702.5(PJVK):c.-201C>G GRCh37: Chr2:179316318 GRCh38: Chr2:178451591	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33264931.	NM_001042702.5(PJVK):c.-234C>T GRCh37: Chr2:179316285 GRCh38: Chr2:178451558	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33264832.	NM_001042702.5(PJVK):c.-263G>A GRCh37: Chr2:179316256 GRCh38: Chr2:178451529	PJVK		Nonsyndromic Hearing Loss, Recessive, Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33264733.	NM_001042702.5(PJVK):c.-283C>G GRCh37: Chr2:179316236 GRCh38: Chr2:178451509	PJVK		Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33264634.	NM_001042702.5(PJVK):c.-303G>A GRCh37: Chr2:179316216 GRCh38: Chr2:178451489	PJVK		Nonsyndromic Hearing Loss, Recessive, Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29080235.	NM_001042702.5(PJVK):c.250T>A (p.Ser84Thr) GRCh37: Chr2:179319097 GRCh38: Chr2:178454370	PJVK	S84T, S87T, S119T	not provided, Autosomal recessive nonsyndromic hearing loss 59	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 28893436.	NM_001042702.5(PJVK):c.794G>A (p.Arg265His) GRCh37: Chr2:179325736 GRCh38: Chr2:178461009	PJVK	R265H, R106H, R268H, R267H	not provided, Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Apr 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22656137.	NM_001042702.5(PJVK):c.*2A>C GRCh37: Chr2:179326003 GRCh38: Chr2:178461276	PJVK		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 59	Conflicting interpretations of pathogenicity (Mar 29, 2019)	criteria provided, conflicting interpretations
Select item 17833938.	NM_001042702.5(PJVK):c.766+8T>C GRCh37: Chr2:179325181 GRCh38: Chr2:178460454	PJVK		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 59	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 16306239.	NM_001042702.5(PJVK):c.405A>C (p.Thr135=) GRCh37: Chr2:179319252 GRCh38: Chr2:178454525	PJVK		not specified, Autosomal recessive nonsyndromic hearing loss 59	Conflicting interpretations of pathogenicity (Apr 27, 2017)	criteria provided, conflicting interpretations
Select item 16306140.	NM_001042702.5(PJVK):c.212-12C>A GRCh37: Chr2:179319047 GRCh38: Chr2:178454320	PJVK		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 59	Conflicting interpretations of pathogenicity (Sep 9, 2022)	criteria provided, conflicting interpretations
Select item 4387341.	NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg) GRCh37: Chr2:179325816 GRCh38: Chr2:178461089	PJVK	G292R, G133R, G294R, G295R	not provided, Autosomal recessive nonsyndromic hearing loss 59, not specified	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4387242.	NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly) GRCh37: Chr2:179318222 GRCh38: Chr2:178453495	PJVK	D29G, D64G, D32G	not provided, Autosomal recessive nonsyndromic hearing loss 59, not specified	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 4387143.	NM_001042702.5(PJVK):c.793C>T (p.Arg265Cys) GRCh37: Chr2:179325735 GRCh38: Chr2:178461008	PJVK	R265C, R268C, R106C, R267C	not provided, not specified, Autosomal recessive nonsyndromic hearing loss 59	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 4387044.	NM_001042702.5(PJVK):c.793C>G (p.Arg265Gly) GRCh37: Chr2:179325735 GRCh38: Chr2:178461008	PJVK	R265G, R106G, R268G, R267G	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 59	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 4386845.	NM_001042702.5(PJVK):c.437G>A (p.Arg146His) GRCh37: Chr2:179320766 GRCh38: Chr2:178456039	PJVK	R146H, R149H, R181H	not specified, Autosomal recessive nonsyndromic hearing loss 59	Uncertain significance (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 130346.	NM_001042702.5(PJVK):c.122del (p.Lys41fs) GRCh37: Chr2:179318257 GRCh38: Chr2:178453530	PJVK	K41fs, K76fs, K44fs	Autosomal recessive nonsyndromic hearing loss 59	Pathogenic (Feb 28, 2007)	no assertion criteria provided
Select item 130247.	NM_001042702.5(PJVK):c.988del (p.Val330fs) GRCh37: Chr2:179325930 GRCh38: Chr2:178461203	PJVK	V171fs, V332fs, V333fs, V330fs	Autosomal recessive nonsyndromic hearing loss 59	Pathogenic (Sep 1, 2007)	no assertion criteria provided
Select item 130148.	NM_001042702.5(PJVK):c.726del (p.Phe242fs) GRCh37: Chr2:179325131 GRCh38: Chr2:178460404	PJVK	F83fs, F242fs, F245fs	Autosomal recessive nonsyndromic hearing loss 59	Pathogenic (Sep 1, 2007)	no assertion criteria provided
Select item 130049.	NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter) GRCh37: Chr2:179320828 GRCh38: Chr2:178456101	PJVK	R167, R170, R202, R8	Rare genetic deafness	Pathogenic (May 22, 2015)	criteria provided, single submitter
Select item 129950.	NM_001042702.5(PJVK):c.113dup (p.Lys41fs) GRCh37: Chr2:179318248-179318249 GRCh38: Chr2:178453521-178453522	PJVK	K44fs, K41fs, K76fs	Autosomal recessive nonsyndromic hearing loss 59	Pathogenic (Jun 1, 2007)	no assertion criteria provided
Select item 129851.	NM_001042702.5(PJVK):c.161C>T (p.Thr54Ile) GRCh37: Chr2:179318297 GRCh38: Chr2:178453570	PJVK	T54I, T57I, T89I	Autosomal recessive nonsyndromic hearing loss 59	Pathogenic (Jul 1, 2006)	no assertion criteria provided
Select item 129752.	NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp) GRCh37: Chr2:179320876 GRCh38: Chr2:178456149	PJVK	R183W, R186W, R218W, R24W	not provided, Ear malformation	Pathogenic (May 20, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 52