ClinVar for MedGen (Select 351225) - ClinVar

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Items: 22

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 22034111.	NM_001199799.2(ILDR1):c.1358G>A (p.Arg453Gln) GRCh37: Chr3:121712238 GRCh38: Chr3:121993391	ILDR1	R409Q, R364Q, R453Q	Autosomal recessive nonsyndromic hearing loss 42, not provided	Uncertain significance (Feb 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 17053012.	NM_001199799.2(ILDR1):c.206C>A (p.Pro69His) GRCh37: Chr3:121725861 GRCh38: Chr3:122007014	ILDR1	P69H	Autosomal recessive nonsyndromic hearing loss 42	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 16916573.	NM_001199799.2(ILDR1):c.1301C>T (p.Pro434Leu) GRCh37: Chr3:121712295 GRCh38: Chr3:121993448	ILDR1	P345L, P390L, P434L	not provided, Autosomal recessive nonsyndromic hearing loss 42	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12993104.	NM_001199799.2(ILDR1):c.294del (p.Val99fs) GRCh37: Chr3:121724176 GRCh38: Chr3:122005329	ILDR1	V99fs	Autosomal recessive nonsyndromic hearing loss 42	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 12993095.	NM_001199799.2(ILDR1):c.820C>T (p.Gln274Ter) GRCh37: Chr3:121712776 GRCh38: Chr3:121993929	ILDR1	Q185, Q230, Q274*	Autosomal recessive nonsyndromic hearing loss 42	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 11916236.	NM_001199799.2(ILDR1):c.1184T>C (p.Leu395Ser) GRCh37: Chr3:121712412 GRCh38: Chr3:121993565	ILDR1	L306S, L351S, L395S	Autosomal recessive nonsyndromic hearing loss 42, not provided, Inborn genetic diseases	Uncertain significance (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10326987.	NM_001199799.2(ILDR1):c.1312C>T (p.Pro438Ser) GRCh37: Chr3:121712284 GRCh38: Chr3:121993437	ILDR1	P349S, P394S, P438S	Autosomal recessive nonsyndromic hearing loss 42	Uncertain significance (May 4, 2018)	criteria provided, single submitter
Select item 8725978.	NM_001199799.2(ILDR1):c.866T>G (p.Leu289Trp) GRCh37: Chr3:121712730 GRCh38: Chr3:121993883	ILDR1	L200W, L245W, L289W	not provided, Autosomal recessive nonsyndromic hearing loss 42	Conflicting interpretations of pathogenicity (Nov 15, 2022)	criteria provided, conflicting interpretations
Select item 6950279.	NM_001199799.2(ILDR1):c.942C>A (p.Cys314Ter) GRCh37: Chr3:121712654 GRCh38: Chr3:121993807	ILDR1	C225, C270, C314*	Autosomal recessive nonsyndromic hearing loss 42	Pathogenic (Aug 9, 2018)	criteria provided, single submitter
Select item 62744910.	NM_001199799.2(ILDR1):c.643G>T (p.Glu215Ter) GRCh37: Chr3:121720158 GRCh38: Chr3:122001311	ILDR1	E215*	Autosomal recessive nonsyndromic hearing loss 42	Pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 56209011.	NM_001199799.2(ILDR1):c.1032del (p.Thr345fs) GRCh37: Chr3:121712564 GRCh38: Chr3:121993717	ILDR1	T256fs, T345fs, T301fs	Autosomal recessive nonsyndromic hearing loss 42, Hearing loss, autosomal recessive	Pathogenic/Likely pathogenic (Jul 5, 2018)	no assertion criteria provided
Select item 56207312.	NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter) GRCh37: Chr3:121712212 GRCh38: Chr3:121993365	ILDR1	R462, R373, R418*	not provided, Autosomal recessive nonsyndromic hearing loss 42	Pathogenic/Likely pathogenic (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52342413.	NM_001199799.2(ILDR1):c.745del (p.Ser249fs) GRCh37: Chr3:121713062 GRCh38: Chr3:121994215	ILDR1	S249fs, S160fs	Autosomal recessive nonsyndromic hearing loss 42, Congenital sensorineural hearing impairment, not provided	Pathogenic/Likely pathogenic (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50459714.	NM_001199799.2(ILDR1):c.1291C>T (p.Arg431Cys) GRCh37: Chr3:121712305 GRCh38: Chr3:121993458	ILDR1	R431C, R387C, R342C	not specified, Autosomal recessive nonsyndromic hearing loss 42	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 50459615.	NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp) GRCh37: Chr3:121712299 GRCh38: Chr3:121993452	ILDR1	R433W, R389W, R344W	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 42	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22874816.	NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) GRCh37: Chr3:121713035 GRCh38: Chr3:121994188	ILDR1	Q258, Q169	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 42, Hearing impairment	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 4414517.	NM_001199799.2(ILDR1):c.791C>G (p.Pro264Arg) GRCh37: Chr3:121712805 GRCh38: Chr3:121993958	ILDR1	P264R, P175R, P220R	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 42	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4414118.	NM_001199799.2(ILDR1):c.1545T>G (p.Leu515=) GRCh37: Chr3:121712051 GRCh38: Chr3:121993204	ILDR1		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 42	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4413619.	NM_001199799.2(ILDR1):c.1162T>C (p.Trp388Arg) GRCh37: Chr3:121712434 GRCh38: Chr3:121993587	ILDR1	W388R, W299R, W344R	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 42	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3079820.	NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter) GRCh37: Chr3:121720218 GRCh38: Chr3:122001371	ILDR1	Q195*	Autosomal recessive nonsyndromic hearing loss 42	Pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 3079721.	NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile) GRCh37: Chr3:121740922 GRCh38: Chr3:122022075	ILDR1	M1I	Autosomal recessive nonsyndromic hearing loss 42, Hearing loss, autosomal recessive	Pathogenic/Likely pathogenic (Feb 11, 2011)	no assertion criteria provided
Select item 3079622.	NM_001199799.2(ILDR1):c.1135G>T (p.Glu379Ter) GRCh37: Chr3:121712461 GRCh38: Chr3:121993614	ILDR1	E379, E335, E290*	Autosomal recessive nonsyndromic hearing loss 42	Pathogenic (Feb 11, 2011)	no assertion criteria provided

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Items: 22