ClinVar for MedGen (Select 413310) - ClinVar

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Items: 44

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16872641.	NM_006941.4(SOX10):c.610C>T (p.Gln204Ter) GRCh37: Chr22:38373961 GRCh38: Chr22:37977954	POLR2F, SOX10	Q204*	Waardenburg syndrome type 4C	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 12058742.	NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg) GRCh37: Chr22:38369810 GRCh38: Chr22:37973803	POLR2F, SOX10	G365R	Waardenburg syndrome type 2E, PCWH syndrome, Waardenburg syndrome type 4C, not provided	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12026333.	NM_006941.4(SOX10):c.448A>G (p.Lys150Glu) GRCh37: Chr22:38374123 GRCh38: Chr22:37978116	POLR2F, SOX10	K150E	Waardenburg syndrome type 4C	Pathogenic	criteria provided, single submitter
Select item 11850904.	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 11850895.	NM_006941.4(SOX10):c.336G>T (p.Met112Ile) GRCh37: Chr22:38379456 GRCh38: Chr22:37983449	POLR2F, SOX10	M112I	Waardenburg syndrome type 4C	Likely pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 11850666.	NM_006941.4(SOX10):c.378C>A (p.Tyr126Ter) GRCh37: Chr22:38379414 GRCh38: Chr22:37983407	POLR2F, SOX10	Y126*	not provided	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 10650487.	NM_006941.4(SOX10):c.570C>A (p.Cys190Ter) GRCh37: Chr22:38374001 GRCh38: Chr22:37977994	POLR2F, SOX10	C190*	Waardenburg syndrome type 4C	Pathogenic (Apr 12, 2021)	criteria provided, single submitter
Select item 9826638.	NM_006941.4(SOX10):c.1081G>A (p.Ala361Thr) GRCh37: Chr22:38369822 GRCh38: Chr22:37973815	POLR2F, SOX10	A361T	not provided, Waardenburg syndrome type 4C	Conflicting interpretations of pathogenicity (Jul 30, 2022)	criteria provided, conflicting interpretations
Select item 9315229.	NM_006941.4(SOX10):c.718A>C (p.Thr240Pro) GRCh37: Chr22:38370185 GRCh38: Chr22:37974178	POLR2F, SOX10	T240P	Waardenburg syndrome type 4C	Uncertain significance (Mar 31, 2019)	criteria provided, single submitter
Select item 87183310.	NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) GRCh37: Chr22:38379703 GRCh38: Chr22:37983696	POLR2F, SOX10	S30*	not provided	Pathogenic (Aug 1, 2018)	criteria provided, single submitter
Select item 81690611.	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 80936012.	NM_006941.4(SOX10):c.768G>A (p.Pro256=) GRCh37: Chr22:38370135 GRCh38: Chr22:37974128	POLR2F, SOX10		not provided, Waardenburg syndrome type 4C, Waardenburg syndrome type 2E, PCWH syndrome	Uncertain significance (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80553213.	NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) GRCh37: Chr22:38369543-38369544 GRCh38: Chr22:37973536-37973537	POLR2F, SOX10	H454fs	not provided, Waardenburg syndrome type 4C, Waardenburg syndrome type 2E, PCWH syndrome, Waardenburg syndrome type 2E	Pathogenic/Likely pathogenic (Apr 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80423114.	NM_006941.4(SOX10):c.979del (p.Ala327fs) GRCh37: Chr22:38369924 GRCh38: Chr22:37973917	POLR2F, SOX10	A327fs	Waardenburg syndrome type 4C	Likely pathogenic	no assertion criteria provided
Select item 54778615.	NM_006941.4(SOX10):c.1095dup (p.Pro366fs) GRCh37: Chr22:38369807-38369808 GRCh38: Chr22:37973800-37973801	POLR2F, SOX10	P366fs	Waardenburg syndrome type 4C	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 54778516.	NM_006941.4(SOX10):c.1090C>T (p.Gln364Ter) GRCh37: Chr22:38369813 GRCh38: Chr22:37973806	POLR2F, SOX10	Q364*	Waardenburg syndrome type 4C, not provided	Pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54778417.	NM_006941.4(SOX10):c.934dup (p.Ser312fs) GRCh37: Chr22:38369968-38369969 GRCh38: Chr22:37973961-37973962	POLR2F, SOX10	S312fs	Waardenburg syndrome type 4C	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 54778318.	NM_006941.4(SOX10):c.586G>T (p.Glu196Ter) GRCh37: Chr22:38373985 GRCh38: Chr22:37977978	POLR2F, SOX10	E196*	Waardenburg syndrome type 4C	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 54778219.	NM_006941.4(SOX10):c.452G>C (p.Arg151Pro) GRCh37: Chr22:38374119 GRCh38: Chr22:37978112	POLR2F, SOX10	R151P	Waardenburg syndrome type 4C	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 54778120.	NM_006941.4(SOX10):c.426G>C (p.Trp142Cys) GRCh37: Chr22:38379366 GRCh38: Chr22:37983359	POLR2F, SOX10	W142C	Waardenburg syndrome type 4C	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 54778021.	NM_006941.4(SOX10):c.380dup (p.His128fs) GRCh37: Chr22:38379411-38379412 GRCh38: Chr22:37983404-37983405	POLR2F, SOX10	H128fs	Waardenburg syndrome type 4C	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 54777922.	NM_006941.4(SOX10):c.364C>G (p.Leu122Val) GRCh37: Chr22:38379428 GRCh38: Chr22:37983421	POLR2F, SOX10	L122V	Waardenburg syndrome type 4C	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 54777823.	NM_006941.4(SOX10):c.334A>G (p.Met112Val) GRCh37: Chr22:38379458 GRCh38: Chr22:37983451	POLR2F, SOX10	M112V	PCWH syndrome, Waardenburg syndrome type 2E, Waardenburg syndrome type 4C, Waardenburg syndrome type 4C	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 54777724.	NM_006941.4(SOX10):c.301A>T (p.Lys101Ter) GRCh37: Chr22:38379491 GRCh38: Chr22:37983484	POLR2F, SOX10	K101*	Waardenburg syndrome type 4C	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 54777625.	NM_006941.4(SOX10):c.298_300delinsGG (p.Ser100fs) GRCh37: Chr22:38379492-38379494 GRCh38: Chr22:37983485-37983487	POLR2F, SOX10	S100fs	Waardenburg syndrome type 4C	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 54777526.	NM_006941.4(SOX10):c.255_274dup (p.Val92fs) GRCh37: Chr22:38379517-38379518 GRCh38: Chr22:37983510-37983511	POLR2F, SOX10	V92fs	Waardenburg syndrome type 4C	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 54777427.	NM_006941.4(SOX10):c.127C>T (p.Arg43Ter) GRCh37: Chr22:38379665 GRCh38: Chr22:37983658	POLR2F, SOX10	R43*	Waardenburg syndrome type 2E, Waardenburg syndrome type 4C	Pathogenic (Jan 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 54501028.	GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1 GRCh37: Chr22:38201553-38379791 GRCh38: Chr22:37805546-37983784	ANKRD54, C22orf23, EIF3L, GALR3, GCAT, H1-0, LOC121853043, LOC125446232, MICALL1, MIR658, MIR659, MIR6820, POLR2F, SOX10		Waardenburg syndrome type 4C	Pathogenic (May 15, 2018)	no assertion criteria provided
Select item 51842229.	NM_006941.4(SOX10):c.1205_1209del (p.Asp401_Tyr402insTer) GRCh37: Chr22:38369694-38369698 GRCh38: Chr22:37973687-37973691	POLR2F, SOX10		Waardenburg syndrome type 4C	Pathogenic (Aug 22, 2017)	criteria provided, single submitter
Select item 51433430.	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, not provided, Waardenburg syndrome, PCWH syndrome	Benign/Likely benign (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50399131.	NM_006941.4(SOX10):c.1107del (p.His368_Tyr369insTer) GRCh37: Chr22:38369796 GRCh38: Chr22:37973789	POLR2F, SOX10		not provided, Waardenburg syndrome type 4C	Pathogenic/Likely pathogenic (Jan 2, 2018)	criteria provided, multiple submitters, no conflicts
Select item 48804432.	NM_006941.4(SOX10):c.44_62del (p.Val15fs) GRCh37: Chr22:38379730-38379748 GRCh38: Chr22:37983723-37983741	POLR2F, SOX10	V15fs	Waardenburg syndrome type 2A, Waardenburg syndrome type 4C	Pathogenic/Likely pathogenic (Mar 1, 2017)	criteria provided, multiple submitters, no conflicts
Select item 42285933.	NM_006941.4(SOX10):c.141del (p.Pro48fs) GRCh37: Chr22:38379651 GRCh38: Chr22:37983644	POLR2F, SOX10	P48fs	not provided, Waardenburg syndrome type 4C	Pathogenic/Likely pathogenic (Dec 6, 2016)	criteria provided, multiple submitters, no conflicts
Select item 22926634.	NM_006941.4(SOX10):c.211T>G (p.Cys71Gly) GRCh37: Chr22:38379581 GRCh38: Chr22:37983574	POLR2F, SOX10	C71G	not specified, not provided, Waardenburg syndrome type 2E, Waardenburg syndrome type 4C	Uncertain significance (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 22708135.	NM_006941.4(SOX10):c.927T>C (p.His309=) GRCh37: Chr22:38369976 GRCh38: Chr22:37973969	POLR2F, SOX10		not provided, Waardenburg syndrome, not specified, Waardenburg syndrome type 2E, PCWH syndrome, Waardenburg syndrome type 4C	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13330336.	NM_006941.4(SOX10):c.271_275del (p.Pro91fs) GRCh37: Chr22:38379517-38379521 GRCh38: Chr22:37983510-37983514	POLR2F, SOX10	P91fs	Waardenburg syndrome type 4C	Likely pathogenic	criteria provided, single submitter
Select item 740837.	NM_006941.4(SOX10):c.470C>T (p.Ala157Val) GRCh37: Chr22:38374101 GRCh38: Chr22:37978094	POLR2F, SOX10	A157V	not provided	Pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 740438.	NM_006941.4(SOX10):c.698-740_1085delinsCCT GRCh37: Chr22:38369818-38370945 GRCh38: Chr22:37973811-37974938	POLR2F, SOX10		Waardenburg syndrome type 4C	Pathogenic (Dec 1, 2007)	no assertion criteria provided
Select item 740239.	NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter) GRCh37: Chr22:38369774 GRCh38: Chr22:37973767	POLR2F, SOX10	Q377*	not provided	Pathogenic (Jan 14, 2019)	criteria provided, single submitter
Select item 740140.	NM_006941.4(SOX10):c.621C>G (p.Tyr207Ter) GRCh37: Chr22:38373950 GRCh38: Chr22:37977943	POLR2F, SOX10	Y207*	Waardenburg syndrome type 4C	Pathogenic (Mar 1, 1999)	no assertion criteria provided
Select item 739641.	NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs) GRCh37: Chr22:38369825-38369826 GRCh38: Chr22:37973818-37973819	POLR2F, SOX10	E359fs	not provided	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 739542.	NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu) GRCh37: Chr22:38374088-38374089 GRCh38: Chr22:37978081-37978082	POLR2F, SOX10		Waardenburg syndrome type 4C	Pathogenic (Feb 1, 1998)	no assertion criteria provided
Select item 739443.	NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter) GRCh37: Chr22:38379543 GRCh38: Chr22:37983536	POLR2F, SOX10	Y83*	Waardenburg syndrome type 4C	Pathogenic (Feb 1, 1998)	no assertion criteria provided
Select item 739344.	NM_006941.4(SOX10):c.565G>T (p.Glu189Ter) GRCh37: Chr22:38374006 GRCh38: Chr22:37977999	POLR2F, SOX10	E189*	Waardenburg syndrome type 4C	Pathogenic (Feb 1, 1998)	no assertion criteria provided

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Items: 44