ClinVar for MedGen (Select 462054) - ClinVar - NCBI

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Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16787101.	NM_004568.6(SERPINB6):c.1096G>A (p.Gly366Arg) GRCh37: Chr6:2948567 GRCh38: Chr6:2948333	SERPINB6	G322R, G366R, G370R, G380R, G385R	not provided, Autosomal recessive nonsyndromic hearing loss 91	Uncertain significance (Jun 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13250522.	NM_004568.6(SERPINB6):c.3G>C (p.Met1Ile) GRCh37: Chr6:2959564 GRCh38: Chr6:2959330	SERPINB6	M15I, M1I, M20I, M5I	Autosomal recessive nonsyndromic hearing loss 91	Likely pathogenic (Jul 25, 2019)	criteria provided, single submitter
Select item 12414033.	NM_004568.6(SERPINB6):c.573+26A>G GRCh37: Chr6:2953252 GRCh38: Chr6:2953018	SERPINB6		Autosomal recessive nonsyndromic hearing loss 91, not provided	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12313394.	NM_004568.6(SERPINB6):c.431-25T>C GRCh37: Chr6:2953445 GRCh38: Chr6:2953211	SERPINB6		Autosomal recessive nonsyndromic hearing loss 91, not provided	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11803515.	NM_004568.6(SERPINB6):c.730-32G>A GRCh37: Chr6:2948965 GRCh38: Chr6:2948731	SERPINB6		not provided, Autosomal recessive nonsyndromic hearing loss 91	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5049956.	NM_004568.6(SERPINB6):c.251C>T (p.Thr84Met) GRCh37: Chr6:2955819 GRCh38: Chr6:2955585	SERPINB6	T88M, T103M, T84M, T98M, T40M	not specified, Autosomal recessive nonsyndromic hearing loss 91, not provided	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1651967.	NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile) GRCh37: Chr6:2959446 GRCh38: Chr6:2959212	SERPINB6	V45I, V41I, V55I, V60I	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 91	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 1651918.	NM_004568.6(SERPINB6):c.430+3G>A GRCh37: Chr6:2954823 GRCh38: Chr6:2954589	SERPINB6		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 91	Conflicting interpretations of pathogenicity (Sep 2, 2022)	criteria provided, conflicting interpretations
Select item 441359.	NM_004568.6(SERPINB6):c.54G>A (p.Thr18=) GRCh37: Chr6:2959513 GRCh38: Chr6:2959279	SERPINB6		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 91	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4413210.	NM_004568.6(SERPINB6):c.268A>G (p.Met90Val) GRCh37: Chr6:2955802 GRCh38: Chr6:2955568	SERPINB6	M94V, M90V, M104V, M109V, M46V	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 91	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1360111.	NM_004568.6(SERPINB6):c.733G>T (p.Glu245Ter) GRCh37: Chr6:2948930 GRCh38: Chr6:2948696	SERPINB6	E245, E249, E259, E264, E201*	Autosomal recessive nonsyndromic hearing loss 91	Pathogenic (May 14, 2010)	no assertion criteria provided