ClinVar for MedGen (Select 413222) - ClinVar

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Items: 20

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26276321.	NM_001128228.3(TPRN):c.301G>T (p.Glu101Ter) GRCh37: Chr9:140094863 GRCh38: Chr9:137200411	TMEM203, LOC130003092, TPRN	E101*	Autosomal recessive nonsyndromic hearing loss 79	Pathogenic (Nov 2, 2023)	criteria provided, single submitter
Select item 18062992.	NM_001128228.3(TPRN):c.943dup (p.Leu315fs) GRCh37: Chr9:140094220-140094221 GRCh38: Chr9:137199768-137199769	TPRN	L315fs	Autosomal recessive nonsyndromic hearing loss 79, not provided	Pathogenic (Jun 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14784333.	NM_001128228.3(TPRN):c.770C>T (p.Pro257Leu) GRCh37: Chr9:140094394 GRCh38: Chr9:137199942	TPRN	P257L	Autosomal recessive nonsyndromic hearing loss 79, Inborn genetic diseases, not provided	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11998334.	NM_001128228.3(TPRN):c.1725+5G>A GRCh37: Chr9:140093434 GRCh38: Chr9:137198982	TPRN		not provided, Autosomal recessive nonsyndromic hearing loss 79	Uncertain significance (Nov 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8112035.	NM_001128228.3(TPRN):c.1696C>T (p.Leu566Phe) GRCh37: Chr9:140093468 GRCh38: Chr9:137199016	TPRN	L566F	Autosomal recessive nonsyndromic hearing loss 79, Inborn genetic diseases	Uncertain significance (Nov 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6274846.	NM_001128228.3(TPRN):c.1159G>T (p.Glu387Ter) GRCh37: Chr9:140094005 GRCh38: Chr9:137199553	TPRN	E387*	Autosomal recessive nonsyndromic hearing loss 79	Likely pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 6274837.	NM_001128228.3(TPRN):c.53G>A (p.Trp18Ter) GRCh37: Chr9:140095111 GRCh38: Chr9:137200659	LOC130003093, TPRN	W18*	Autosomal recessive nonsyndromic hearing loss 79	Pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 5134638.	NM_001128228.3(TPRN):c.1073T>C (p.Leu358Pro) GRCh37: Chr9:140094091 GRCh38: Chr9:137199639	TPRN	L358P	not provided, Autosomal recessive nonsyndromic hearing loss 79, not specified	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4403529.	NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys) GRCh37: Chr9:140086933 GRCh38: Chr9:137192481	TPRN	E646K	not specified, Autosomal recessive nonsyndromic hearing loss 79	Uncertain significance (Jan 4, 2019)	criteria provided, multiple submitters, no conflicts
Select item 28893810.	NM_001128228.3(TPRN):c.691C>T (p.Arg231Trp) GRCh37: Chr9:140094473 GRCh38: Chr9:137200021	TPRN	R231W	Autosomal recessive nonsyndromic hearing loss 79, Inborn genetic diseases, not provided	Uncertain significance (Nov 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22802511.	NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr) GRCh37: Chr9:140086761 GRCh38: Chr9:137192309	TPRN	A675T	not specified, not provided	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 19318112.	NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser) GRCh37: Chr9:140094605 GRCh38: Chr9:137200153	TPRN	A187S	not provided, Autosomal recessive nonsyndromic hearing loss 79, not specified	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19317913.	NM_001128228.3(TPRN):c.858C>T (p.Cys286=) GRCh37: Chr9:140094306 GRCh38: Chr9:137199854	TPRN		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 79	Benign (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16557914.	NM_001128228.3(TPRN):c.1818GGA[8] (p.Glu621del) GRCh37: Chr9:140087025-140087027 GRCh38: Chr9:137192573-137192575	TPRN	E621del	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 79	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16557615.	NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu) GRCh37: Chr9:140086727 GRCh38: Chr9:137192275	TPRN	P686L	not specified	Likely benign (Oct 6, 2016)	criteria provided, single submitter
Select item 13816.	NM_001128228.3(TPRN):c.1530del (p.Thr511fs) GRCh37: Chr9:140093634 GRCh38: Chr9:137199182	TPRN	T511fs	Autosomal recessive nonsyndromic hearing loss 79	Pathogenic (Mar 12, 2010)	no assertion criteria provided
Select item 13717.	NM_001128228.3(TPRN):c.225_235del (p.Gly76fs) GRCh37: Chr9:140094929-140094939 GRCh38: Chr9:137200477-137200487	TPRN	G76fs	not provided, Autosomal recessive nonsyndromic hearing loss 79	Pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13618.	NM_001128228.3(TPRN):c.227_237dup (p.Leu80fs) GRCh37: Chr9:140094926-140094927 GRCh38: Chr9:137200474-137200475	TPRN	L80fs	Autosomal recessive nonsyndromic hearing loss 79	Pathogenic (Mar 12, 2010)	no assertion criteria provided
Select item 13519.	NM_001128228.3(TPRN):c.1427del (p.Pro476fs) GRCh37: Chr9:140093737 GRCh38: Chr9:137199285	TPRN	P476fs	Autosomal recessive nonsyndromic hearing loss 79	Pathogenic (Mar 12, 2010)	no assertion criteria provided
Select item 13420.	NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter) GRCh37: Chr9:140093925 GRCh38: Chr9:137199473	TPRN	W413*	Hearing loss, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 79	Pathogenic/Likely pathogenic (Mar 12, 2010)	no assertion criteria provided

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Items: 20