ClinVar for MedGen (Select 398476) - ClinVar

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Items: 46

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24456751.	NM_006941.4(SOX10):c.1195_1196del (p.Gln399fs) GRCh37: Chr22:38369707-38369708 GRCh38: Chr22:37973700-37973701	POLR2F, SOX10	Q399fs	Waardenburg syndrome type 2E	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24443232.	NM_006941.4(SOX10):c.356_357del (p.Arg119fs) GRCh37: Chr22:38379435-38379436 GRCh38: Chr22:37983428-37983429	POLR2F, SOX10	R119fs	Waardenburg syndrome type 2E	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 18786563.	NM_006941.4(SOX10):c.404_405delinsTT (p.Ser135Ile) GRCh37: Chr22:38379387-38379388 GRCh38: Chr22:37983380-37983381	POLR2F, SOX10	S135I	Waardenburg syndrome type 2E	Uncertain significance	criteria provided, single submitter
Select item 17094234.	NM_006941.4(SOX10):c.274G>A (p.Val92Met) GRCh37: Chr22:38379518 GRCh38: Chr22:37983511	POLR2F, SOX10	V92M	Waardenburg syndrome type 2E	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 17045605.	NM_006941.4(SOX10):c.1086dup (p.Pro363fs) GRCh37: Chr22:38369816-38369817 GRCh38: Chr22:37973809-37973810	POLR2F, SOX10	P363fs	Waardenburg syndrome type 2E	Likely pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 13018686.	NM_006941.4(SOX10):c.707_714del (p.His236fs) GRCh37: Chr22:38370189-38370196 GRCh38: Chr22:37974182-37974189	POLR2F, SOX10	H236fs	Waardenburg syndrome type 2E	Uncertain significance	no assertion criteria provided
Select item 12205247.	NM_006941.4(SOX10):c.12_13delinsAT (p.Gln5Ter) GRCh37: Chr22:38379779-38379780 GRCh38: Chr22:37983772-37983773	POLR2F, SOX10	Q5*	Waardenburg syndrome type 2E	Pathogenic	criteria provided, single submitter
Select item 12058748.	NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg) GRCh37: Chr22:38369810 GRCh38: Chr22:37973803	POLR2F, SOX10	G365R	PCWH syndrome, Waardenburg syndrome type 2E, Waardenburg syndrome type 4C, not provided	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11850909.	NM_006941.4(SOX10):c.520C>T (p.Gln174Ter) GRCh37: Chr22:38374051 GRCh38: Chr22:37978044	POLR2F, SOX10	Q174*	Waardenburg syndrome type 2E	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 104855510.	NM_006941.4(SOX10):c.529_556del (p.Arg177fs) GRCh37: Chr22:38374015-38374042 GRCh38: Chr22:37978008-37978035	POLR2F, SOX10	R177fs	Waardenburg syndrome type 2E	Pathogenic	criteria provided, single submitter
Select item 104855411.	NM_006941.4(SOX10):c.198_262del (p.Lys67fs) GRCh37: Chr22:38379530-38379594 GRCh38: Chr22:37983523-37983587	POLR2F, SOX10	K67fs	Waardenburg syndrome type 2E	Pathogenic	criteria provided, single submitter
Select item 99594112.	GRCh37/hg19 22q13.1(chr22:38155164-38541997) GRCh37: Chr22:38155164-38541997	ANKRD54, C22orf23, PICK1, PLA2G6, TRIOBP, POLR2F, GCAT, MIR659, GALR3, MICALL1, SLC16A8, EIF3L, SOX10, H1-0, BAIAP2L2		Waardenburg syndrome type 2E	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 99594013.	NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter) GRCh37: Chr22:38369708 GRCh38: Chr22:37973701	POLR2F, SOX10	Q399*	not provided, Waardenburg syndrome type 2E	Pathogenic (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99593914.	NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter) GRCh37: Chr22:38369840 GRCh38: Chr22:37973833	POLR2F, SOX10	Q355*	Waardenburg syndrome type 2E	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 99593815.	NM_006941.4(SOX10):c.776_780del (p.Asp259fs) GRCh37: Chr22:38370123-38370127 GRCh38: Chr22:37974116-37974120	POLR2F, SOX10	D259fs	Waardenburg syndrome type 2E	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 99593716.	NM_006941.4(SOX10):c.502del (p.His168fs) GRCh37: Chr22:38374069 GRCh38: Chr22:37978062	POLR2F, SOX10	H168fs	Waardenburg syndrome type 2E	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 99593617.	NM_006941.4(SOX10):c.463G>T (p.Glu155Ter) GRCh37: Chr22:38374108 GRCh38: Chr22:37978101	POLR2F, SOX10	E155*	Waardenburg syndrome type 2E	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 99593518.	NM_006941.4(SOX10):c.448A>T (p.Lys150Ter) GRCh37: Chr22:38374123 GRCh38: Chr22:37978116	POLR2F, SOX10	K150*	Waardenburg syndrome type 2E	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 99593419.	NM_006941.4(SOX10):c.428+1G>A GRCh37: Chr22:38379363 GRCh38: Chr22:37983356	POLR2F, SOX10		Waardenburg syndrome type 2E	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 99593320.	NM_006941.4(SOX10):c.386T>C (p.Leu129Pro) GRCh37: Chr22:38379406 GRCh38: Chr22:37983399	POLR2F, SOX10	L129P	Waardenburg syndrome type 2E	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 99593221.	NM_006941.4(SOX10):c.341G>A (p.Trp114Ter) GRCh37: Chr22:38379451 GRCh38: Chr22:37983444	POLR2F, SOX10	W114*	Waardenburg syndrome type 2E	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 99593122.	NM_006941.4(SOX10):c.335T>G (p.Met112Arg) GRCh37: Chr22:38379457 GRCh38: Chr22:37983450	POLR2F, SOX10	M112R	Waardenburg syndrome type 2E	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 99593023.	NM_006941.4(SOX10):c.326A>G (p.Asn109Ser) GRCh37: Chr22:38379466 GRCh38: Chr22:37983459	POLR2F, SOX10	N109S	Waardenburg syndrome type 2E	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 99592924.	NM_006941.4(SOX10):c.323T>C (p.Met108Thr) GRCh37: Chr22:38379469 GRCh38: Chr22:37983462	POLR2F, SOX10	M108T	not provided, Waardenburg syndrome type 2E	Conflicting interpretations of pathogenicity (May 12, 2022)	criteria provided, conflicting interpretations
Select item 99592825.	NM_006941.4(SOX10):c.7G>T (p.Glu3Ter) GRCh37: Chr22:38379785 GRCh38: Chr22:37983778	POLR2F, SOX10	E3*	Waardenburg syndrome type 2E	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 98673326.	NM_006941.4(SOX10):c.644G>A (p.Arg215Gln) GRCh37: Chr22:38373927 GRCh38: Chr22:37977920	POLR2F, SOX10	R215Q	Waardenburg syndrome type 2E, PCWH syndrome	Uncertain significance (Oct 1, 2020)	criteria provided, single submitter
Select item 91546027.	NM_006941.4(SOX10):c.1379del (p.Tyr460fs) GRCh37: Chr22:38369524 GRCh38: Chr22:37973517	POLR2F, SOX10	Y460fs	Waardenburg syndrome type 2E	Pathogenic (May 2, 2020)	no assertion criteria provided
Select item 91545228.	NM_006941.4(SOX10):c.479T>C (p.Leu160Pro) GRCh37: Chr22:38374092 GRCh38: Chr22:37978085	POLR2F, SOX10	L160P	Waardenburg syndrome type 2E	Pathogenic (May 2, 2020)	no assertion criteria provided
Select item 87346829.	NM_006941.4(SOX10):c.482G>A (p.Arg161His) GRCh37: Chr22:38374089 GRCh38: Chr22:37978082	POLR2F, SOX10	R161H	not provided, Waardenburg syndrome type 2E	Conflicting interpretations of pathogenicity (Feb 23, 2023)	criteria provided, conflicting interpretations
Select item 80936030.	NM_006941.4(SOX10):c.768G>A (p.Pro256=) GRCh37: Chr22:38370135 GRCh38: Chr22:37974128	POLR2F, SOX10		Waardenburg syndrome type 2E, Waardenburg syndrome type 4C, PCWH syndrome, not provided	Uncertain significance (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80553231.	NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) GRCh37: Chr22:38369543-38369544 GRCh38: Chr22:37973536-37973537	POLR2F, SOX10	H454fs	Waardenburg syndrome type 2E, Waardenburg syndrome type 4C, PCWH syndrome, not provided, Waardenburg syndrome type 2E	Pathogenic/Likely pathogenic (Apr 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80101632.	NM_006941.4(SOX10):c.426G>T (p.Trp142Cys) GRCh37: Chr22:38379366 GRCh38: Chr22:37983359	POLR2F, SOX10	W142C	Waardenburg syndrome type 2E	Pathogenic (Dec 26, 2019)	no assertion criteria provided
Select item 69219533.	NM_006941.4(SOX10):c.403A>G (p.Ser135Gly) GRCh37: Chr22:38379389 GRCh38: Chr22:37983382	POLR2F, SOX10	S135G	Waardenburg syndrome type 2E	Likely pathogenic (Aug 27, 2019)	criteria provided, single submitter
Select item 63554134.	NM_006941.4(SOX10):c.428+2T>C GRCh37: Chr22:38379362 GRCh38: Chr22:37983355	POLR2F, SOX10		Waardenburg syndrome type 2E	Likely pathogenic (Jan 14, 2019)	no assertion criteria provided
Select item 59907135.	NM_006941.4(SOX10):c.487C>T (p.Gln163Ter) GRCh37: Chr22:38374084 GRCh38: Chr22:37978077	POLR2F, SOX10	Q163*	Waardenburg syndrome type 2E	Pathogenic (Jan 17, 2018)	no assertion criteria provided
Select item 54777836.	NM_006941.4(SOX10):c.334A>G (p.Met112Val) GRCh37: Chr22:38379458 GRCh38: Chr22:37983451	POLR2F, SOX10	M112V	Waardenburg syndrome type 4C, Waardenburg syndrome type 2E, PCWH syndrome, Waardenburg syndrome type 4C	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 54777437.	NM_006941.4(SOX10):c.127C>T (p.Arg43Ter) GRCh37: Chr22:38379665 GRCh38: Chr22:37983658	POLR2F, SOX10	R43*	Waardenburg syndrome type 4C, Waardenburg syndrome type 2E	Pathogenic (Jan 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 54501438.	NM_006941.4(SOX10):c.1169C>G (p.Ser390Ter) GRCh37: Chr22:38369734 GRCh38: Chr22:37973727	POLR2F, SOX10	S390*	Waardenburg syndrome type 2E	Pathogenic (May 15, 2018)	no assertion criteria provided
Select item 54501339.	NM_006941.4(SOX10):c.415G>T (p.Gly139Cys) GRCh37: Chr22:38379377 GRCh38: Chr22:37983370	POLR2F, SOX10	G139C	Waardenburg syndrome type 2E	Uncertain significance (May 15, 2018)	no assertion criteria provided
Select item 52388440.	NM_006941.4(SOX10):c.232C>T (p.Gln78Ter) GRCh37: Chr22:38379560 GRCh38: Chr22:37983553	POLR2F, SOX10	Q78*	not provided, Waardenburg syndrome type 2E	Pathogenic (Jan 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 52135641.	NM_006941.4(SOX10):c.523C>T (p.Pro175Ser) GRCh37: Chr22:38374048 GRCh38: Chr22:37978041	POLR2F, SOX10	P175S	SOX10-related disorder, Inborn genetic diseases, Waardenburg syndrome type 2E	Pathogenic/Likely pathogenic (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51433442.	NM_006941.4(SOX10):c.975C>T (p.Ala325=) GRCh37: Chr22:38369928 GRCh38: Chr22:37973921	POLR2F, SOX10		Waardenburg syndrome, not specified, PCWH syndrome, PCWH syndrome, Waardenburg syndrome type 4C, Waardenburg syndrome type 2E, not provided	Benign/Likely benign (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50565343.	NM_006941.4(SOX10):c.424T>C (p.Trp142Arg) GRCh37: Chr22:38379368 GRCh38: Chr22:37983361	POLR2F, SOX10	W142R	Rare genetic deafness, Waardenburg syndrome type 2E	Pathogenic/Likely pathogenic (Jan 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 37426644.	NM_006941.4(SOX10):c.316C>G (p.Arg106Gly) GRCh37: Chr22:38379476 GRCh38: Chr22:37983469	POLR2F, SOX10	R106G	Waardenburg syndrome type 2E	Likely pathogenic (Dec 30, 2014)	no assertion criteria provided
Select item 22926645.	NM_006941.4(SOX10):c.211T>G (p.Cys71Gly) GRCh37: Chr22:38379581 GRCh38: Chr22:37983574	POLR2F, SOX10	C71G	Waardenburg syndrome type 4C, not provided, not specified, Waardenburg syndrome type 2E	Uncertain significance (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 22708146.	NM_006941.4(SOX10):c.927T>C (p.His309=) GRCh37: Chr22:38369976 GRCh38: Chr22:37973969	POLR2F, SOX10		Waardenburg syndrome, PCWH syndrome, not provided, Waardenburg syndrome type 4C, not specified, Waardenburg syndrome type 2E	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 46