ClinVar for MedGen (Select 398476) - ClinVar

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Items: 48

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25730611.	NM_006941.4(SOX10):c.953dup (p.Tyr318Ter) GRCh37: Chr22:38369949-38369950 GRCh38: Chr22:37973942-37973943	POLR2F, SOX10	Y318*	Waardenburg syndrome type 2E	Likely pathogenic (Apr 21, 2023)	criteria provided, single submitter
Select item 24456752.	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 24443233.	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 18786564.	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 17094235.	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 17045606.	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 14076497.	NM_006941.4(SOX10):c.481C>T (p.Arg161Cys) GRCh37: Chr22:38374090 GRCh38: Chr22:37978083	POLR2F, SOX10	R161C	not provided, Deafness with anatomical inner ear anomalies, PCWH syndrome, Waardenburg syndrome type 4C, Waardenburg syndrome type 2E	Pathogenic/Likely pathogenic (Aug 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13018688.	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 12205249.	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 120587410.	NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg) GRCh37: Chr22:38369810 GRCh38: Chr22:37973803	POLR2F, SOX10	G365R	PCWH syndrome, Waardenburg syndrome type 4C, Waardenburg syndrome type 2E, not provided	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118509011.	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 104855512.	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 104855413.	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 99594114.	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 99594015.	NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter) GRCh37: Chr22:38369708 GRCh38: Chr22:37973701	POLR2F, SOX10	Q399*	Waardenburg syndrome type 2E, not provided	Pathogenic (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99593916.	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 99593817.	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 99593718.	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 99593619.	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 99593520.	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 99593421.	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 99593322.	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 99593223.	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 99593124.	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 99593025.	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 99592926.	NM_006941.4(SOX10):c.323T>C (p.Met108Thr) GRCh37: Chr22:38379469 GRCh38: Chr22:37983462	POLR2F, SOX10	M108T	SOX10-related condition, Waardenburg syndrome type 2E, not provided	Conflicting interpretations of pathogenicity (Jun 2, 2023)	criteria provided, conflicting interpretations
Select item 99592827.	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 98673328.	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 91546029.	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 91545230.	NM_006941.4(SOX10):c.479T>C (p.Leu160Pro) GRCh37: Chr22:38374092 GRCh38: Chr22:37978085	POLR2F, SOX10	L160P	Waardenburg syndrome type 4C	Pathogenic	criteria provided, single submitter
Select item 87346831.	NM_006941.4(SOX10):c.482G>A (p.Arg161His) GRCh37: Chr22:38374089 GRCh38: Chr22:37978082	POLR2F, SOX10	R161H	Waardenburg syndrome type 2E, not provided	Conflicting interpretations of pathogenicity (Aug 27, 2023)	criteria provided, conflicting interpretations
Select item 80936032.	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 80553233.	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 80101634.	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 69219535.	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 63554136.	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 59907137.	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 54777838.	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 54777439.	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 54501440.	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 54501341.	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 52388442.	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 52135643.	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 51433444.	NM_006941.4(SOX10):c.975C>T (p.Ala325=) GRCh37: Chr22:38369928 GRCh38: Chr22:37973921	POLR2F, SOX10		Waardenburg syndrome type 2E, PCWH syndrome, Waardenburg syndrome type 4C, not specified, Waardenburg syndrome, not provided, PCWH syndrome	Benign/Likely benign (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50565345.	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 37426646.	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 22926647.	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 22708148.	NM_006941.4(SOX10):c.927T>C (p.His309=) GRCh37: Chr22:38369976 GRCh38: Chr22:37973969	POLR2F, SOX10		Waardenburg syndrome type 2E, Waardenburg syndrome, not specified, not provided, Waardenburg syndrome type 4C, PCWH syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 48