ClinVar for MedGen (Select 332149) - ClinVar - NCBI

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Items: 12

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25016621.	NM_006383.4(CIB2):c.199-1G>A GRCh37: Chr15:78401725 GRCh38: Chr15:78109383	CIB2, SH2D7		Autosomal recessive nonsyndromic hearing loss 48	Likely pathogenic (May 10, 2023)	criteria provided, single submitter
Select item 18015052.	NM_006383.4(CIB2):c.9C>G (p.Asn3Lys) GRCh37: Chr15:78423549 GRCh38: Chr15:78131207	CIB2	N3K	Autosomal recessive nonsyndromic hearing loss 48	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 17096243.	NM_006383.4(CIB2):c.47A>G (p.Tyr16Cys) GRCh37: Chr15:78423511 GRCh38: Chr15:78131169	CIB2	Y16C	Autosomal recessive nonsyndromic hearing loss 48	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 10265044.	NM_006383.4(CIB2):c.352A>G (p.Asn118Asp) GRCh37: Chr15:78398271 GRCh38: Chr15:78105929	CIB2	N118D, N123D, N69D, N75D	Autosomal recessive nonsyndromic hearing loss 48, Usher syndrome type 1J, not provided	Uncertain significance (Feb 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9385135.	NM_006383.4(CIB2):c.401G>T (p.Arg134Leu) GRCh37: Chr15:78398222 GRCh38: Chr15:78105880	CIB2	R85L, R91L, R134L, R139L	not provided, Usher syndrome type 1J, Autosomal recessive nonsyndromic hearing loss 48	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6666736.	NM_006383.4(CIB2):c.311G>A (p.Arg104Gln) GRCh37: Chr15:78401612 GRCh38: Chr15:78109270	CIB2	R104Q, R55Q, R61Q, R109Q	Usher syndrome type 1J, Autosomal recessive nonsyndromic hearing loss 48, not specified, not provided	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 6179367.	NM_006383.4(CIB2):c.223G>A (p.Val75Met) GRCh37: Chr15:78401700 GRCh38: Chr15:78109358	CIB2	V75M, V26M, V32M, V80M	Autosomal recessive nonsyndromic hearing loss 48, not provided	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5053958.	NM_006383.4(CIB2):c.300_309del (p.Glu100fs) GRCh37: Chr15:78401614-78401623 GRCh38: Chr15:78109272-78109281	CIB2	E105fs, E100fs, E57fs, E51fs	Rare genetic deafness, not provided, Autosomal recessive nonsyndromic hearing loss 48, Usher syndrome type 1J	Pathogenic/Likely pathogenic (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4994809.	NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) GRCh37: Chr15:78397661 GRCh38: Chr15:78105319	CIB2	R186W, R143W, R191W, R137W	Childhood onset hearing loss, not provided, Usher syndrome, not specified, Autosomal recessive nonsyndromic hearing loss 48	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 3968710.	NM_006383.4(CIB2):c.368T>C (p.Ile123Thr) GRCh37: Chr15:78398255 GRCh38: Chr15:78105913	CIB2	I123T, I74T, I80T, I128T	Autosomal recessive nonsyndromic hearing loss 48	Pathogenic (Nov 1, 2012)	no assertion criteria provided
Select item 3968611.	NM_006383.4(CIB2):c.297C>G (p.Cys99Trp) GRCh37: Chr15:78401626 GRCh38: Chr15:78109284	CIB2	C99W, C104W, C50W, C56W	Autosomal recessive nonsyndromic hearing loss 48, Hearing loss, autosomal recessive	Pathogenic/Likely pathogenic (Nov 1, 2012)	no assertion criteria provided
Select item 3968512.	NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) GRCh37: Chr15:78401651 GRCh38: Chr15:78109309	CIB2	F91S, F96S, F42S, F48S	Autosomal recessive nonsyndromic hearing loss 48, Usher syndrome type 1J	Likely pathogenic (Jan 12, 2022)	criteria provided, single submitter