ClinVar for MedGen (Select 375935) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26279601.	NM_001363711.2(DUOX2):c.3521A>G (p.Lys1174Arg) GRCh37: Chr15:45390251 GRCh38: Chr15:45098053	DUOX2	K1174R	Thyroid dyshormonogenesis 6	Uncertain significance	criteria provided, single submitter
Select item 26274822.	NM_001363711.2(DUOX2):c.457C>T (p.Gln153Ter) GRCh37: Chr15:45404022 GRCh38: Chr15:45111824	DUOX2	Q153*	Thyroid dyshormonogenesis 6	Likely pathogenic	criteria provided, single submitter
Select item 25815333.	NM_001363711.2(DUOX2):c.2428G>T (p.Glu810Ter) GRCh37: Chr15:45396470 GRCh38: Chr15:45104272	DUOX2	E810*	Thyroid dyshormonogenesis 6	Pathogenic (Aug 7, 2023)	criteria provided, single submitter
Select item 24410494.	NM_001363711.2(DUOX2):c.4326G>A (p.Gln1442=) GRCh37: Chr15:45387203 GRCh38: Chr15:45095005	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 24410485.	NM_001363711.2(DUOX2):c.2579C>A (p.Ser860Tyr) GRCh37: Chr15:45396233 GRCh38: Chr15:45104035	DUOX2	S860Y	Thyroid dyshormonogenesis 6	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 24410476.	NM_001363711.2(DUOX2):c.4060G>A (p.Gly1354Ser) GRCh37: Chr15:45388046 GRCh38: Chr15:45095848	DUOX2	G1354S	Thyroid dyshormonogenesis 6	Uncertain significance (Apr 1, 2020)	criteria provided, single submitter
Select item 24410467.	NM_001363711.2(DUOX2):c.3240C>T (p.Ile1080=) GRCh37: Chr15:45392035 GRCh38: Chr15:45099837	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Apr 1, 2020)	criteria provided, single submitter
Select item 24168298.	NM_001363711.2(DUOX2):c.506G>A (p.Arg169Gln) GRCh37: Chr15:45403973 GRCh38: Chr15:45111775	DUOX2	R169Q	not provided, Thyroid dyshormonogenesis 6	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 21954619.	NM_001363711.2(DUOX2):c.4097C>T (p.Pro1366Leu) GRCh37: Chr15:45387777 GRCh38: Chr15:45095579	DUOX2	P1366L	Thyroid dyshormonogenesis 6, not provided, Inborn genetic diseases	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 189829610.	NM_001363711.2(DUOX2):c.1131G>A (p.Glu377=) GRCh37: Chr15:45402088 GRCh38: Chr15:45109890	DUOX2		Thyroid dyshormonogenesis 6, not provided	Uncertain significance (May 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 180323711.	NM_001363711.2(DUOX2):c.1479dup (p.Gly494fs) GRCh37: Chr15:45400339-45400340 GRCh38: Chr15:45108141-45108142	DUOX2	G494fs	Thyroid dyshormonogenesis 6	Likely pathogenic (Jul 11, 2022)	criteria provided, single submitter
Select item 170528212.	NM_001363711.2(DUOX2):c.1264C>T (p.Arg422Cys) GRCh37: Chr15:45401121 GRCh38: Chr15:45108923	DUOX2	R422C	Thyroid dyshormonogenesis 6, not provided	Uncertain significance (Jan 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170528113.	NM_001363711.2(DUOX2):c.715G>A (p.Ala239Thr) GRCh37: Chr15:45403582 GRCh38: Chr15:45111384	DUOX2	A239T	Thyroid dyshormonogenesis 6	Uncertain significance	criteria provided, single submitter
Select item 168754114.	NM_001363711.2(DUOX2):c.3251G>A (p.Arg1084Gln) GRCh37: Chr15:45392024 GRCh38: Chr15:45099826	DUOX2	R1084Q	Thyroid dyshormonogenesis 6, not provided	Uncertain significance (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168751215.	NM_001363711.2(DUOX2):c.3264_3267del (p.Val1090fs) GRCh37: Chr15:45392008-45392011 GRCh38: Chr15:45099810-45099813	DUOX2	V1090fs	Thyroid dyshormonogenesis 6	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168737616.	NM_001363711.2(DUOX2):c.425C>G (p.Pro142Arg) GRCh37: Chr15:45404054 GRCh38: Chr15:45111856	DUOX2	P142R	See cases, Thyroid dyshormonogenesis 6	Uncertain significance (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168729917.	NM_001363711.2(DUOX2):c.790del (p.Leu264fs) GRCh37: Chr15:45403401 GRCh38: Chr15:45111203	DUOX2	L264fs	Thyroid dyshormonogenesis 6	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168717918.	NM_001363711.2(DUOX2):c.1552T>A (p.Trp518Arg) GRCh37: Chr15:45400267 GRCh38: Chr15:45108069	DUOX2	W518R	Thyroid dyshormonogenesis 6	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 167958519.	NM_001363711.2(DUOX2):c.4634A>G (p.Tyr1545Cys) GRCh37: Chr15:45386361 GRCh38: Chr15:45094163	DUOX2	Y1545C	Thyroid dyshormonogenesis 6	Uncertain significance (Apr 30, 2021)	criteria provided, single submitter
Select item 155126820.	NM_001363711.2(DUOX2):c.1268C>T (p.Thr423Ile) GRCh37: Chr15:45401117 GRCh38: Chr15:45108919	DUOX2	T423I	not provided, Thyroid dyshormonogenesis 6	Conflicting interpretations of pathogenicity (Oct 6, 2022)	criteria provided, conflicting interpretations
Select item 152036421.	NM_001363711.2(DUOX2):c.3175C>T (p.Arg1059Cys) GRCh37: Chr15:45392257 GRCh38: Chr15:45100059	DUOX2	R1059C	not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151726522.	NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp) GRCh37: Chr15:45403974 GRCh38: Chr15:45111776	DUOX2	R169W	Thyroid dyshormonogenesis 6, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 147407923.	NM_001363711.2(DUOX2):c.1435C>G (p.Leu479Val) GRCh37: Chr15:45400384 GRCh38: Chr15:45108186	DUOX2	L479V	not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147000324.	NM_001363711.2(DUOX2):c.4396T>G (p.Tyr1466Asp) GRCh37: Chr15:45386889 GRCh38: Chr15:45094691	DUOX2	Y1466D	not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146823625.	NM_001363711.2(DUOX2):c.3967G>A (p.Ala1323Thr) GRCh37: Chr15:45388139 GRCh38: Chr15:45095941	DUOX2	A1323T	not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145873726.	NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln) GRCh37: Chr15:45396158 GRCh38: Chr15:45103960	DUOX2	R885Q	not provided, Thyroid dyshormonogenesis 6	Pathogenic/Likely pathogenic (Jun 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 145792827.	NM_001363711.2(DUOX2):c.2335-1G>C GRCh37: Chr15:45396564 GRCh38: Chr15:45104366	DUOX2		Thyroid dyshormonogenesis 6, not provided	Pathogenic/Likely pathogenic (Jul 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 145631228.	NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) GRCh37: Chr15:45398798 GRCh38: Chr15:45106600	DUOX2	R625*	not provided, Thyroid dyshormonogenesis 6	Pathogenic/Likely pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143206329.	NM_001363711.2(DUOX2):c.1265G>A (p.Arg422His) GRCh37: Chr15:45401120 GRCh38: Chr15:45108922	DUOX2	R422H	not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Oct 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 140063730.	NM_001363711.2(DUOX2):c.2921G>A (p.Arg974His) GRCh37: Chr15:45393403 GRCh38: Chr15:45101205	DUOX2	R974H	not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133919031.	NM_001363711.2(DUOX2):c.3033C>A (p.Tyr1011Ter) GRCh37: Chr15:45392399 GRCh38: Chr15:45100201	DUOX2	Y1011*	Thyroid dyshormonogenesis 6	Likely pathogenic	criteria provided, single submitter
Select item 132430632.	NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys) GRCh37: Chr15:45396177 GRCh38: Chr15:45103979	DUOX2	E879K	not provided, Thyroid dyshormonogenesis 6	Pathogenic/Likely pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132430433.	NM_001363711.2(DUOX2):c.3687T>A (p.Tyr1229Ter) GRCh37: Chr15:45389818 GRCh38: Chr15:45097620	DUOX2	Y1229*	Thyroid dyshormonogenesis 6	Likely pathogenic (Mar 23, 2020)	criteria provided, single submitter
Select item 132430234.	NM_001363711.2(DUOX2):c.3006-2A>G GRCh37: Chr15:45392428 GRCh38: Chr15:45100230	DUOX2		Thyroid dyshormonogenesis 6, not provided	Likely pathogenic (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132430135.	NM_001363711.2(DUOX2):c.618del (p.Asp208fs) GRCh37: Chr15:45403679 GRCh38: Chr15:45111481	DUOX2	D208fs	Thyroid dyshormonogenesis 6	Likely pathogenic (Jun 26, 2020)	criteria provided, single submitter
Select item 132279036.	NM_001363711.2(DUOX2):c.2000del (p.Leu667fs) GRCh37: Chr15:45398471 GRCh38: Chr15:45106273	DUOX2	L667fs	Thyroid dyshormonogenesis 6, not provided	Pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132278937.	NM_001363711.2(DUOX2):c.2921+2T>C GRCh37: Chr15:45393401 GRCh38: Chr15:45101203	DUOX2		Thyroid dyshormonogenesis 6	Pathogenic (Nov 25, 2019)	criteria provided, single submitter
Select item 130318138.	NM_001363711.2(DUOX2):c.3632G>A (p.Arg1211His) GRCh37: Chr15:45389873 GRCh38: Chr15:45097675	DUOX2	R1211H	Thyroid dyshormonogenesis 6, not provided	Uncertain significance (Sep 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 130170339.	NM_001363711.2(DUOX2):c.144C>A (p.His48Gln) GRCh37: Chr15:45405201 GRCh38: Chr15:45113003	DUOX2	H48Q	not provided	Uncertain significance (Dec 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116078940.	NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) GRCh37: Chr15:45399152 GRCh38: Chr15:45106954	DUOX2	Q570L	not provided, Thyroid dyshormonogenesis 6	Conflicting interpretations of pathogenicity (Sep 11, 2023)	criteria provided, conflicting interpretations
Select item 107154741.	NM_001363711.2(DUOX2):c.2101C>T (p.Arg701Ter) GRCh37: Chr15:45398370 GRCh38: Chr15:45106172	DUOX2	R701*	not provided, Thyroid dyshormonogenesis 6	Pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104199442.	NM_001363711.2(DUOX2):c.4597G>C (p.Val1533Leu) GRCh37: Chr15:45386398 GRCh38: Chr15:45094200	DUOX2	V1533L	not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102740043.	NM_001363711.2(DUOX2):c.605_621del (p.Gln202fs) GRCh37: Chr15:45403676-45403692 GRCh38: Chr15:45111478-45111494	DUOX2	Q202fs	not provided, Thyroid dyshormonogenesis 6	Pathogenic/Likely pathogenic (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98492844.	NM_001363711.2(DUOX2):c.4081-1G>A GRCh37: Chr15:45387794 GRCh38: Chr15:45095596	DUOX2		Thyroid dyshormonogenesis 6	Likely pathogenic (Sep 24, 2019)	criteria provided, single submitter
Select item 91785645.	NM_001363711.2(DUOX2):c.4080G>T (p.Lys1360Asn) GRCh37: Chr15:45388026 GRCh38: Chr15:45095828	DUOX2	K1360N	not provided	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 91546346.	NM_001363711.2(DUOX2):c.989T>G (p.Val330Gly) GRCh37: Chr15:45402677 GRCh38: Chr15:45110479	DUOX2	V330G	Thyroid dyshormonogenesis 6	Likely pathogenic (May 13, 2020)	no assertion criteria provided
Select item 91546247.	NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala) GRCh37: Chr15:45401075 GRCh38: Chr15:45108877	DUOX2	G437A	not provided	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 91545948.	NM_001363711.2(DUOX2):c.3115C>T (p.Arg1039Trp) GRCh37: Chr15:45392317 GRCh38: Chr15:45100119	DUOX2	R1039W	Thyroid dyshormonogenesis 6	Likely pathogenic (May 7, 2020)	no assertion criteria provided
Select item 88841349.	NM_001363711.2(DUOX2):c.-14-6C>T GRCh37: Chr15:45405629 GRCh38: Chr15:45113431	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88841250.	NM_001363711.2(DUOX2):c.70+2C>G GRCh37: Chr15:45405538 GRCh38: Chr15:45113340	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88841151.	NM_001363711.2(DUOX2):c.70+15C>A GRCh37: Chr15:45405525 GRCh38: Chr15:45113327	DUOX2		not provided, Thyroid dyshormonogenesis 6	Conflicting interpretations of pathogenicity (Sep 9, 2022)	criteria provided, conflicting interpretations
Select item 88835252.	NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg) GRCh37: Chr15:45403699 GRCh38: Chr15:45111501	DUOX2	G200R	not specified, Thyroid dyshormonogenesis 6	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88835153.	NM_001363711.2(DUOX2):c.841C>T (p.Leu281=) GRCh37: Chr15:45403350 GRCh38: Chr15:45111152	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88827554.	NM_001363711.2(DUOX2):c.1949T>C (p.Met650Thr) GRCh37: Chr15:45398522 GRCh38: Chr15:45106324	DUOX2	M650T	not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88827455.	NM_001363711.2(DUOX2):c.2176C>T (p.Arg726Trp) GRCh37: Chr15:45397999 GRCh38: Chr15:45105801	DUOX2	R726W	not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88820956.	NM_001363711.2(DUOX2):c.2806C>T (p.Arg936Cys) GRCh37: Chr15:45394036 GRCh38: Chr15:45101838	DUOX2	R936C	not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88820857.	NM_001363711.2(DUOX2):c.2906G>A (p.Arg969Gln) GRCh37: Chr15:45393418 GRCh38: Chr15:45101220	DUOX2	R969Q	DUOX2-related condition, Thyroid dyshormonogenesis 6, not provided	Conflicting interpretations of pathogenicity (Jul 12, 2023)	criteria provided, conflicting interpretations
Select item 88815158.	NM_001363711.2(DUOX2):c.3660G>A (p.Leu1220=) GRCh37: Chr15:45389845 GRCh38: Chr15:45097647	DUOX2		not provided, Thyroid dyshormonogenesis 6	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 88815059.	NM_001363711.2(DUOX2):c.3667C>G (p.His1223Asp) GRCh37: Chr15:45389838 GRCh38: Chr15:45097640	DUOX2	H1223D	not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88814960.	NM_001363711.2(DUOX2):c.3807G>T (p.Lys1269Asn) GRCh37: Chr15:45389476 GRCh38: Chr15:45097278	DUOX2	K1269N	Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88809661.	NM_001363711.2(DUOX2):c.4537G>A (p.Gly1513Arg) GRCh37: Chr15:45386458 GRCh38: Chr15:45094260	DUOX2	G1513R	not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88809562.	NM_001363711.2(DUOX2):c.*72T>G GRCh37: Chr15:45386276 GRCh38: Chr15:45094078	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88801663.	NM_001363711.2(DUOX2):c.*1352G>A GRCh37: Chr15:45384996 GRCh38: Chr15:45092798	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88801564.	NM_001363711.2(DUOX2):c.*1428G>A GRCh37: Chr15:45384920 GRCh38: Chr15:45092722	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88801465.	NM_001363711.2(DUOX2):c.*1437C>T GRCh37: Chr15:45384911 GRCh38: Chr15:45092713	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88801366.	NM_001363711.2(DUOX2):c.*1438G>A GRCh37: Chr15:45384910 GRCh38: Chr15:45092712	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88715567.	NM_001363711.2(DUOX2):c.160G>T (p.Gly54Cys) GRCh37: Chr15:45405185 GRCh38: Chr15:45112987	DUOX2	G54C	Thyroid dyshormonogenesis 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88715468.	NM_001363711.2(DUOX2):c.160+5G>T GRCh37: Chr15:45405180 GRCh38: Chr15:45112982	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88715369.	NM_001363711.2(DUOX2):c.163T>C (p.Cys55Arg) GRCh37: Chr15:45404914 GRCh38: Chr15:45112716	DUOX2	C55R	Thyroid dyshormonogenesis 6, not provided	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88715270.	NM_001363711.2(DUOX2):c.252C>G (p.Leu84=) GRCh37: Chr15:45404825 GRCh38: Chr15:45112627	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88715171.	NM_001363711.2(DUOX2):c.299A>G (p.Asn100Ser) GRCh37: Chr15:45404778 GRCh38: Chr15:45112580	DUOX2	N100S	Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88708172.	NM_001363711.2(DUOX2):c.883-13C>G GRCh37: Chr15:45402921 GRCh38: Chr15:45110723	DUOX2		not provided, Thyroid dyshormonogenesis 6	Conflicting interpretations of pathogenicity (Aug 24, 2022)	criteria provided, conflicting interpretations
Select item 88708073.	NM_001363711.2(DUOX2):c.959T>C (p.Leu320Pro) GRCh37: Chr15:45402707 GRCh38: Chr15:45110509	DUOX2	L320P	Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88707974.	NM_001363711.2(DUOX2):c.1027G>A (p.Gly343Ser) GRCh37: Chr15:45402639 GRCh38: Chr15:45110441	DUOX2	G343S	not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Aug 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88707875.	NM_001363711.2(DUOX2):c.1189C>A (p.Gln397Lys) GRCh37: Chr15:45401767 GRCh38: Chr15:45109569	DUOX2	Q397K	not provided, Thyroid dyshormonogenesis 6	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 88701076.	NM_001363711.2(DUOX2):c.2313C>G (p.Phe771Leu) GRCh37: Chr15:45397862 GRCh38: Chr15:45105664	DUOX2	F771L	Thyroid dyshormonogenesis 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88700977.	NM_001363711.2(DUOX2):c.2334+4C>A GRCh37: Chr15:45397837 GRCh38: Chr15:45105639	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88694578.	NM_001363711.2(DUOX2):c.3103G>A (p.Val1035Met) GRCh37: Chr15:45392329 GRCh38: Chr15:45100131	DUOX2	V1035M	not provided, Thyroid dyshormonogenesis 6	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 88694479.	NM_001363711.2(DUOX2):c.3179C>T (p.Ala1060Val) GRCh37: Chr15:45392253 GRCh38: Chr15:45100055	DUOX2	A1060V	not provided, Thyroid dyshormonogenesis 6	Conflicting interpretations of pathogenicity (Apr 13, 2021)	criteria provided, conflicting interpretations
Select item 88687080.	NM_001363711.2(DUOX2):c.3906G>C (p.Trp1302Cys) GRCh37: Chr15:45388200 GRCh38: Chr15:45096002	DUOX2	W1302C	Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88686981.	NM_001363711.2(DUOX2):c.3910C>T (p.Arg1304Trp) GRCh37: Chr15:45388196 GRCh38: Chr15:45095998	DUOX2	R1304W	Inborn genetic diseases, Thyroid dyshormonogenesis 6	Uncertain significance (Jun 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88686882.	NM_001363711.2(DUOX2):c.3968C>A (p.Ala1323Glu) GRCh37: Chr15:45388138 GRCh38: Chr15:45095940	DUOX2	A1323E	not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88686783.	NM_001363711.2(DUOX2):c.4027C>T (p.Leu1343Phe) GRCh37: Chr15:45388079 GRCh38: Chr15:45095881	DUOX2	L1343F	Thyroid dyshormonogenesis 6, not provided	Conflicting interpretations of pathogenicity (Jun 22, 2023)	criteria provided, conflicting interpretations
Select item 88682084.	NM_001363711.2(DUOX2):c.*344A>G GRCh37: Chr15:45386004 GRCh38: Chr15:45093806	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88681985.	NM_001363711.2(DUOX2):c.*353G>A GRCh37: Chr15:45385995 GRCh38: Chr15:45093797	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88681886.	NM_001363711.2(DUOX2):c.*405T>G GRCh37: Chr15:45385943 GRCh38: Chr15:45093745	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88681787.	NM_001363711.2(DUOX2):c.*417A>G GRCh37: Chr15:45385931 GRCh38: Chr15:45093733	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88681688.	NM_001363711.2(DUOX2):c.*418T>C GRCh37: Chr15:45385930 GRCh38: Chr15:45093732	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88681589.	NM_001363711.2(DUOX2):c.*475G>A GRCh37: Chr15:45385873 GRCh38: Chr15:45093675	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88613990.	NM_001363711.2(DUOX2):c.317T>C (p.Val106Ala) GRCh37: Chr15:45404760 GRCh38: Chr15:45112562	DUOX2	V106A	Thyroid dyshormonogenesis 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88607391.	NM_001363711.2(DUOX2):c.1415C>A (p.Ala472Asp) GRCh37: Chr15:45400404 GRCh38: Chr15:45108206	DUOX2	A472D	not provided, Inborn genetic diseases, Thyroid dyshormonogenesis 6	Uncertain significance (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88607292.	NM_001363711.2(DUOX2):c.1461G>T (p.Gly487=) GRCh37: Chr15:45400358 GRCh38: Chr15:45108160	DUOX2		not provided, Thyroid dyshormonogenesis 6	Conflicting interpretations of pathogenicity (Oct 22, 2022)	criteria provided, conflicting interpretations
Select item 88600593.	NM_001363711.2(DUOX2):c.2335G>A (p.Val779Met) GRCh37: Chr15:45396563 GRCh38: Chr15:45104365	DUOX2	V779M	not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88600494.	NM_001363711.2(DUOX2):c.2412C>T (p.Cys804=) GRCh37: Chr15:45396486 GRCh38: Chr15:45104288	DUOX2		not provided, Thyroid dyshormonogenesis 6	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 88600395.	NM_001363711.2(DUOX2):c.2427C>T (p.Ala809=) GRCh37: Chr15:45396471 GRCh38: Chr15:45104273	DUOX2		not provided, Thyroid dyshormonogenesis 6	Conflicting interpretations of pathogenicity (Jan 3, 2022)	criteria provided, conflicting interpretations
Select item 88594496.	NM_001363711.2(DUOX2):c.3297C>T (p.Leu1099=) GRCh37: Chr15:45391978 GRCh38: Chr15:45099780	DUOX2		not provided, Thyroid dyshormonogenesis 6	Conflicting interpretations of pathogenicity (Aug 1, 2021)	criteria provided, conflicting interpretations
Select item 88594397.	NM_001363711.2(DUOX2):c.3391G>A (p.Ala1131Thr) GRCh37: Chr15:45391884 GRCh38: Chr15:45099686	DUOX2	A1131T	Thyroid dyshormonogenesis 6, not provided	Uncertain significance (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88587898.	NM_001363711.2(DUOX2):c.4080+6C>T GRCh37: Chr15:45388020 GRCh38: Chr15:45095822	DUOX2		not provided, Thyroid dyshormonogenesis 6	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88587799.	NM_001363711.2(DUOX2):c.4232G>A (p.Cys1411Tyr) GRCh37: Chr15:45387642 GRCh38: Chr15:45095444	DUOX2	C1411Y	Thyroid dyshormonogenesis 6	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 885876100.	NM_001363711.2(DUOX2):c.4393C>T (p.Leu1465=) GRCh37: Chr15:45387136 GRCh38: Chr15:45094938	DUOX2		Thyroid dyshormonogenesis 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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