ClinVar for MedGen (Select 373160) - ClinVar

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Items: 64

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24419431.	NM_006941.4(SOX10):c.671C>A (p.Ser224Ter) GRCh37: Chr22:38373900 GRCh38: Chr22:37977893	POLR2F, SOX10	S224*	PCWH syndrome	Pathogenic (Apr 27, 2021)	criteria provided, single submitter
Select item 13294652.	NM_006941.4(SOX10):c.850G>T (p.Glu284Ter) GRCh37: Chr22:38370053 GRCh38: Chr22:37974046	POLR2F, SOX10	E284*	PCWH syndrome	Likely pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 13294643.	NM_006941.4(SOX10):c.966dup (p.Ala323fs) GRCh37: Chr22:38369936-38369937 GRCh38: Chr22:37973929-37973930	POLR2F, SOX10	A323fs	PCWH syndrome	Pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 13294634.	NM_006941.4(SOX10):c.395C>G (p.Ala132Gly) GRCh37: Chr22:38379397 GRCh38: Chr22:37983390	POLR2F, SOX10	A132G	PCWH syndrome	Pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 12058745.	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 10658396.	NM_006941.4(SOX10):c.267del (p.Met90fs) GRCh37: Chr22:38379525 GRCh38: Chr22:37983518	POLR2F, SOX10	M90fs	Waardenburg syndrome type 1, PCWH syndrome	Pathogenic (Apr 26, 2021)	no assertion criteria provided
Select item 10656137.	NM_006941.4(SOX10):c.1400A>T (p.Ter467Leu) GRCh37: Chr22:38369503 GRCh38: Chr22:37973496	POLR2F, SOX10		PCWH syndrome	Likely pathogenic	criteria provided, single submitter
Select item 10276988.	NM_006941.4(SOX10):c.181G>A (p.Gly61Ser) GRCh37: Chr22:38379611 GRCh38: Chr22:37983604	POLR2F, SOX10	G61S	PCWH syndrome, not provided	Uncertain significance (Dec 29, 2020)	criteria provided, multiple submitters, no conflicts
Select item 10276979.	NM_006941.4(SOX10):c.1165G>A (p.Gly389Ser) GRCh37: Chr22:38369738 GRCh38: Chr22:37973731	POLR2F, SOX10	G389S	PCWH syndrome	Uncertain significance (Dec 10, 2019)	criteria provided, single submitter
Select item 98673310.	NM_006941.4(SOX10):c.644G>A (p.Arg215Gln) GRCh37: Chr22:38373927 GRCh38: Chr22:37977920	POLR2F, SOX10	R215Q	PCWH syndrome, Waardenburg syndrome type 2E	Uncertain significance (Oct 1, 2020)	criteria provided, single submitter
Select item 97628411.	NM_006941.4(SOX10):c.941C>A (p.Ser314Ter) GRCh37: Chr22:38369962 GRCh38: Chr22:37973955	POLR2F, SOX10	S314*	PCWH syndrome	Pathogenic (Aug 8, 2019)	criteria provided, single submitter
Select item 91546112.	NM_006941.4(SOX10):c.425G>C (p.Trp142Ser) GRCh37: Chr22:38379367 GRCh38: Chr22:37983360	POLR2F, SOX10	W142S	PCWH syndrome	Pathogenic (May 2, 2020)	no assertion criteria provided
Select item 91545313.	NM_006941.4(SOX10):c.1155_1174dup (p.Phe392fs) GRCh37: Chr22:38369728-38369729 GRCh38: Chr22:37973721-37973722	POLR2F, SOX10	F392fs	PCWH syndrome	Pathogenic (May 2, 2020)	no assertion criteria provided
Select item 90336714.	NM_006941.4(SOX10):c.-29A>G GRCh37: Chr22:38379820 GRCh38: Chr22:37983813	POLR2F, SOX10		PCWH syndrome, Waardenburg syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90336615.	NM_006941.4(SOX10):c.-9G>A GRCh37: Chr22:38379800 GRCh38: Chr22:37983793	POLR2F, SOX10		PCWH syndrome, Waardenburg syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90322916.	NM_006941.4(SOX10):c.*830G>C GRCh37: Chr22:38368672 GRCh38: Chr22:37972665	POLR2F, SOX10		PCWH syndrome, Waardenburg syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90251217.	NM_006941.4(SOX10):c.135C>T (p.Ser45=) GRCh37: Chr22:38379657 GRCh38: Chr22:37983650	POLR2F, SOX10		PCWH syndrome, Waardenburg syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90251118.	NM_006941.4(SOX10):c.202T>C (p.Phe68Leu) GRCh37: Chr22:38379590 GRCh38: Chr22:37983583	POLR2F, SOX10	F68L	PCWH syndrome, Waardenburg syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90243319.	NM_006941.4(SOX10):c.976G>A (p.Val326Met) GRCh37: Chr22:38369927 GRCh38: Chr22:37973920	POLR2F, SOX10	V326M	not provided, PCWH syndrome, Waardenburg syndrome	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90243220.	NM_006941.4(SOX10):c.1111G>A (p.Asp371Asn) GRCh37: Chr22:38369792 GRCh38: Chr22:37973785	POLR2F, SOX10	D371N	PCWH syndrome, Waardenburg syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90243121.	NM_006941.4(SOX10):c.1111G>T (p.Asp371Tyr) GRCh37: Chr22:38369792 GRCh38: Chr22:37973785	POLR2F, SOX10	D371Y	PCWH syndrome, Waardenburg syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90075522.	NM_006941.4(SOX10):c.1244C>T (p.Ser415Leu) GRCh37: Chr22:38369659 GRCh38: Chr22:37973652	POLR2F, SOX10	S415L	not provided, PCWH syndrome, Waardenburg syndrome	Uncertain significance (Jan 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90075423.	NM_006941.4(SOX10):c.*27G>A GRCh37: Chr22:38369475 GRCh38: Chr22:37973468	POLR2F, SOX10		PCWH syndrome, Waardenburg syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90075324.	NM_006941.4(SOX10):c.*327G>A GRCh37: Chr22:38369175 GRCh38: Chr22:37973168	POLR2F, SOX10		PCWH syndrome, Waardenburg syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89975425.	NM_006941.4(SOX10):c.-166C>T GRCh37: Chr22:38380427 GRCh38: Chr22:37984420	POLR2F, SOX10		PCWH syndrome, Waardenburg syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89968926.	NM_006941.4(SOX10):c.628G>A (p.Ala210Thr) GRCh37: Chr22:38373943 GRCh38: Chr22:37977936	POLR2F, SOX10	A210T	PCWH syndrome, Waardenburg syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89962227.	NM_006941.4(SOX10):c.*568T>A GRCh37: Chr22:38368934 GRCh38: Chr22:37972927	POLR2F, SOX10		PCWH syndrome, Waardenburg syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87292328.	NM_006941.4(SOX10):c.207_208del (p.Cys71fs) GRCh37: Chr22:38379584-38379585 GRCh38: Chr22:37983577-37983578	POLR2F, SOX10	C71fs	PCWH syndrome	Pathogenic (May 2, 2020)	no assertion criteria provided
Select item 81690629.	NM_006941.4(SOX10):c.404G>A (p.Ser135Asn) GRCh37: Chr22:38379388 GRCh38: Chr22:37983381	POLR2F, SOX10	S135N	Waardenburg syndrome type 4C, PCWH syndrome	Pathogenic/Likely pathogenic (Dec 28, 2020)	criteria provided, multiple submitters, no conflicts
Select item 80936030.	NM_006941.4(SOX10):c.768G>A (p.Pro256=) GRCh37: Chr22:38370135 GRCh38: Chr22:37974128	POLR2F, SOX10		not provided, PCWH syndrome, Waardenburg syndrome type 2E, Waardenburg syndrome type 4C	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	not provided, PCWH syndrome, Waardenburg syndrome type 2E, Waardenburg syndrome type 4C, Waardenburg syndrome type 2E	Pathogenic/Likely pathogenic (Apr 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73358532.	NM_006941.4(SOX10):c.918C>T (p.His306=) GRCh37: Chr22:38369985 GRCh38: Chr22:37973978	POLR2F, SOX10		Waardenburg syndrome, not provided, PCWH syndrome	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 70240533.	NM_006941.4(SOX10):c.274G>C (p.Val92Leu) GRCh37: Chr22:38379518 GRCh38: Chr22:37983511	POLR2F, SOX10	V92L	Hearing impairment, not provided, PCWH syndrome, Waardenburg syndrome	Conflicting interpretations of pathogenicity (Dec 16, 2021)	criteria provided, conflicting interpretations
Select item 54777834.	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 4C, PCWH syndrome, Waardenburg syndrome type 2E	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 51433435.	NM_006941.4(SOX10):c.975C>T (p.Ala325=) GRCh37: Chr22:38369928 GRCh38: Chr22:37973921	POLR2F, SOX10		PCWH syndrome, Waardenburg syndrome type 4C, Waardenburg syndrome type 2E, not specified, PCWH syndrome, not provided, Waardenburg syndrome	Benign/Likely benign (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45227836.	NM_006941.4(SOX10):c.131C>G (p.Ala44Gly) GRCh37: Chr22:38379661 GRCh38: Chr22:37983654	POLR2F, SOX10	A44G	not specified, PCWH syndrome, not provided, Waardenburg syndrome	Conflicting interpretations of pathogenicity (Dec 28, 2020)	criteria provided, conflicting interpretations
Select item 34162237.	NM_006941.4(SOX10):c.122G>T (p.Gly41Val) GRCh37: Chr22:38379670 GRCh38: Chr22:37983663	POLR2F, SOX10	G41V	not provided, not specified, Waardenburg syndrome, PCWH syndrome	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34162138.	NM_006941.4(SOX10):c.429-12A>G GRCh37: Chr22:38374154 GRCh38: Chr22:37978147	POLR2F, SOX10		Waardenburg syndrome, PCWH syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34162039.	NM_006941.4(SOX10):c.507G>A (p.Pro169=) GRCh37: Chr22:38374064 GRCh38: Chr22:37978057	POLR2F, SOX10		not provided, Waardenburg syndrome, PCWH syndrome	Benign/Likely benign (Jun 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34161940.	NM_006941.4(SOX10):c.585C>T (p.Ala195=) GRCh37: Chr22:38373986 GRCh38: Chr22:37977979	POLR2F, SOX10		Waardenburg syndrome, PCWH syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34161841.	NM_006941.4(SOX10):c.746T>A (p.Leu249Gln) GRCh37: Chr22:38370157 GRCh38: Chr22:37974150	POLR2F, SOX10	L249Q	Waardenburg syndrome, PCWH syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34161742.	NM_006941.4(SOX10):c.753G>A (p.Ser251=) GRCh37: Chr22:38370150 GRCh38: Chr22:37974143	POLR2F, SOX10		not specified, not provided, Waardenburg syndrome, PCWH syndrome	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 34161643.	NM_006941.4(SOX10):c.906G>A (p.Pro302=) GRCh37: Chr22:38369997 GRCh38: Chr22:37973990	POLR2F, SOX10		Waardenburg syndrome, PCWH syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34161544.	NM_006941.4(SOX10):c.*158A>G GRCh37: Chr22:38369344 GRCh38: Chr22:37973337	POLR2F, SOX10		Waardenburg syndrome, PCWH syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34161445.	NM_006941.4(SOX10):c.*475G>A GRCh37: Chr22:38369027 GRCh38: Chr22:37973020	POLR2F, SOX10		Waardenburg syndrome, PCWH syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34161346.	NM_006941.4(SOX10):c.*537G>C GRCh37: Chr22:38368965 GRCh38: Chr22:37972958	POLR2F, SOX10		Waardenburg syndrome, PCWH syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34161247.	NM_006941.4(SOX10):c.*643A>G GRCh37: Chr22:38368859 GRCh38: Chr22:37972852	POLR2F, SOX10		Waardenburg syndrome, PCWH syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34161148.	NM_006941.4(SOX10):c.*711C>T GRCh37: Chr22:38368791 GRCh38: Chr22:37972784	POLR2F, SOX10		Waardenburg syndrome, PCWH syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34161049.	NM_006941.4(SOX10):c.*712G>T GRCh37: Chr22:38368790 GRCh38: Chr22:37972783	POLR2F, SOX10		Waardenburg syndrome, PCWH syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34160950.	NM_006941.4(SOX10):c.*932G>A GRCh37: Chr22:38368570 GRCh38: Chr22:37972563	POLR2F, SOX10		Waardenburg syndrome, PCWH syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 34160851.	NM_006941.4(SOX10):c.*1084TC[1] GRCh37: Chr22:38368415-38368416 GRCh38: Chr22:37972408-37972409	POLR2F, SOX10		Waardenburg syndrome, PCWH syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 34160752.	NM_006941.4(SOX10):c.*1179G>A GRCh37: Chr22:38368323 GRCh38: Chr22:37972316	POLR2F, SOX10		Waardenburg syndrome, PCWH syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 22796053.	NM_006941.4(SOX10):c.822C>T (p.Gly274=) GRCh37: Chr22:38370081 GRCh38: Chr22:37974074	POLR2F, SOX10		not specified, Waardenburg syndrome, PCWH syndrome, not provided	Benign/Likely benign (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22708154.	NM_006941.4(SOX10):c.927T>C (p.His309=) GRCh37: Chr22:38369976 GRCh38: Chr22:37973969	POLR2F, SOX10		not specified, Waardenburg syndrome type 2E, Waardenburg syndrome, not provided, Waardenburg syndrome type 4C, PCWH syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22708055.	NM_006941.4(SOX10):c.428+10C>G GRCh37: Chr22:38379354 GRCh38: Chr22:37983347	POLR2F, SOX10		Waardenburg syndrome, not specified, PCWH syndrome, not provided	Benign/Likely benign (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22707956.	NM_006941.4(SOX10):c.249C>T (p.Tyr83=) GRCh37: Chr22:38379543 GRCh38: Chr22:37983536	POLR2F, SOX10		Waardenburg syndrome, PCWH syndrome, not specified, not provided	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22707857.	NM_006941.4(SOX10):c.18C>T (p.Asp6=) GRCh37: Chr22:38379774 GRCh38: Chr22:37983767	POLR2F, SOX10		Waardenburg syndrome, not specified, not provided, PCWH syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13330258.	NM_006941.4(SOX10):c.1127C>G (p.Ser376Ter) GRCh37: Chr22:38369776 GRCh38: Chr22:37973769	POLR2F, SOX10	S376*	PCWH syndrome	Likely pathogenic	criteria provided, single submitter
Select item 741259.	NM_006941.4(SOX10):c.915del (p.His306fs) GRCh37: Chr22:38369988 GRCh38: Chr22:37973981	POLR2F, SOX10	H306fs	PCWH syndrome	Pathogenic (Oct 1, 2009)	no assertion criteria provided
Select item 741160.	NM_006941.4(SOX10):c.797del (p.Gly266fs) GRCh37: Chr22:38370106 GRCh38: Chr22:37974099	POLR2F, SOX10	G266fs	Charcot-Marie-Tooth disease, PCWH syndrome	Conflicting interpretations of pathogenicity (Oct 1, 2000)	no assertion criteria provided
Select item 740361.	NM_006941.4(SOX10):c.748C>T (p.Gln250Ter) GRCh37: Chr22:38370155 GRCh38: Chr22:37974148	POLR2F, SOX10	Q250*	PCWH syndrome	Pathogenic (Dec 1, 2002)	no assertion criteria provided
Select item 740062.	NM_006941.4(SOX10):c.1400_*10del (p.Ter467Xaa) GRCh37: Chr22:38369492-38369503 GRCh38: Chr22:37973485-37973496	POLR2F, SOX10		PCWH syndrome	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 739963.	NM_006941.4(SOX10):c.752C>A (p.Ser251Ter) GRCh37: Chr22:38370151 GRCh38: Chr22:37974144	POLR2F, SOX10	S251*	PCWH syndrome	Pathogenic (May 1, 2000)	no assertion criteria provided
Select item 739864.	NM_006941.4(SOX10):c.939C>G (p.Tyr313Ter) GRCh37: Chr22:38369964 GRCh38: Chr22:37973957	POLR2F, SOX10	Y313*	PCWH syndrome	Pathogenic (Apr 1, 2004)	no assertion criteria provided

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Items: 64