ClinVar for MedGen (Select 358389) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24345841.	NM_003466.4(PAX8):c.670C>T (p.Arg224Cys) GRCh37: Chr2:113999235 GRCh38: Chr2:113241658	LOC126806316, PAX8, PAX8-AS1	R224C	Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jun 27, 2020)	criteria provided, single submitter
Select item 24345832.	NM_003466.4(PAX8):c.1189G>A (p.Gly397Arg) GRCh37: Chr2:113984732 GRCh38: Chr2:113227155	PAX8	G397R	Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Nov 11, 2022)	criteria provided, single submitter
Select item 13283933.	NM_003466.4(PAX8):c.237dup (p.Lys80fs) GRCh37: Chr2:114002155-114002156 GRCh38: Chr2:113244578-113244579	PAX8, PAX8-AS1	K80fs	Hypothyroidism, congenital, nongoitrous, 2	Likely pathogenic	no assertion criteria provided
Select item 12653384.	NM_003466.4(PAX8):c.25+24T>C GRCh37: Chr2:114035923 GRCh38: Chr2:113278346	PAX8		not provided, Hypothyroidism, congenital, nongoitrous, 2	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12489115.	NM_003466.4(PAX8):c.479-29C>A GRCh37: Chr2:113999736 GRCh38: Chr2:113242159	PAX8, PAX8-AS1		not provided, Hypothyroidism, congenital, nongoitrous, 2	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10297056.	NM_003466.4(PAX8):c.777G>C (p.Gln259His) GRCh37: Chr2:113999128 GRCh38: Chr2:113241551	LOC126806316, PAX8, PAX8-AS1	Q259H	Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Mar 26, 2020)	criteria provided, single submitter
Select item 10297047.	NM_003466.4(PAX8):c.1277-10A>G GRCh37: Chr2:113976196 GRCh38: Chr2:113218619	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (May 18, 2020)	criteria provided, single submitter
Select item 9154658.	NM_003466.4(PAX8):c.457_458del (p.Leu153fs) GRCh37: Chr2:114000287-114000288 GRCh38: Chr2:113242710-113242711	PAX8, PAX8-AS1	L153fs	Hypothyroidism, congenital, nongoitrous, 2	Pathogenic (May 14, 2020)	no assertion criteria provided
Select item 9154649.	NM_003466.4(PAX8):c.236C>T (p.Ser79Phe) GRCh37: Chr2:114002157 GRCh38: Chr2:113244580	PAX8, PAX8-AS1	S79F	Hypothyroidism, congenital, nongoitrous, 2	Likely pathogenic (May 14, 2020)	no assertion criteria provided
Select item 89442110.	NM_003466.4(PAX8):c.602G>A (p.Ser201Asn) GRCh37: Chr2:113999303 GRCh38: Chr2:113241726	LOC126806316, PAX8, PAX8-AS1	S201N	Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89442011.	NM_003466.4(PAX8):c.700G>A (p.Glu234Lys) GRCh37: Chr2:113999205 GRCh38: Chr2:113241628	LOC126806316, PAX8, PAX8-AS1	E234K	not provided, Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Nov 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89441912.	NM_003466.4(PAX8):c.817G>A (p.Asp273Asn) GRCh37: Chr2:113994259 GRCh38: Chr2:113236682	PAX8, PAX8-AS1	D273N	Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89438913.	NM_003466.4(PAX8):c.*472C>T GRCh37: Chr2:113975638 GRCh38: Chr2:113218061	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89438814.	NM_003466.4(PAX8):c.*501C>T GRCh37: Chr2:113975609 GRCh38: Chr2:113218032	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89438715.	NM_003466.4(PAX8):c.*527G>A GRCh37: Chr2:113975583 GRCh38: Chr2:113218006	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89438616.	NM_003466.4(PAX8):c.*612G>A GRCh37: Chr2:113975498 GRCh38: Chr2:113217921	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89438517.	NM_003466.4(PAX8):c.*664T>C GRCh37: Chr2:113975446 GRCh38: Chr2:113217869	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89438418.	NM_003466.4(PAX8):c.*697C>T GRCh37: Chr2:113975413 GRCh38: Chr2:113217836	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89435619.	NM_003466.4(PAX8):c.*2044G>C GRCh37: Chr2:113974066 GRCh38: Chr2:113216489	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89435520.	NM_003466.4(PAX8):c.*2231C>T GRCh37: Chr2:113973879 GRCh38: Chr2:113216302	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 89435421.	NM_003466.4(PAX8):c.*2276G>A GRCh37: Chr2:113973834 GRCh38: Chr2:113216257	PAX8		not provided, Hypothyroidism, congenital, nongoitrous, 2	Conflicting interpretations of pathogenicity (Jul 1, 2022)	criteria provided, conflicting interpretations
Select item 89402122.	NM_003466.4(PAX8):c.1009T>G (p.Ser337Ala) GRCh37: Chr2:113993049 GRCh38: Chr2:113235472	PAX8	S337A	not specified, Inborn genetic diseases, Hypothyroidism, congenital, nongoitrous, 2	Conflicting interpretations of pathogenicity (Dec 21, 2022)	criteria provided, conflicting interpretations
Select item 89398523.	NM_003466.4(PAX8):c.*766C>T GRCh37: Chr2:113975344 GRCh38: Chr2:113217767	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89398424.	NM_003466.4(PAX8):c.*844C>T GRCh37: Chr2:113975266 GRCh38: Chr2:113217689	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89398325.	NM_003466.4(PAX8):c.*897C>T GRCh37: Chr2:113975213 GRCh38: Chr2:113217636	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89395526.	NM_003466.4(PAX8):c.*2368C>T GRCh37: Chr2:113973742 GRCh38: Chr2:113216165	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89395427.	NM_003466.4(PAX8):c.*2475C>T GRCh37: Chr2:113973635 GRCh38: Chr2:113216058	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89372028.	NM_003466.4(PAX8):c.*1060C>G GRCh37: Chr2:113975050 GRCh38: Chr2:113217473	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89371929.	NM_003466.4(PAX8):c.*1066G>A GRCh37: Chr2:113975044 GRCh38: Chr2:113217467	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89371830.	NM_003466.4(PAX8):c.*1186G>C GRCh37: Chr2:113974924 GRCh38: Chr2:113217347	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89321231.	NM_003466.4(PAX8):c.-75-4G>T GRCh37: Chr2:114036050 GRCh38: Chr2:113278473	LOC108281110, PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89321132.	NM_003466.4(PAX8):c.-63C>A GRCh37: Chr2:114036034 GRCh38: Chr2:113278457	LOC108281110, PAX8		not provided, Hypothyroidism, congenital, nongoitrous, 2	Conflicting interpretations of pathogenicity (Jun 1, 2022)	criteria provided, conflicting interpretations
Select item 89321033.	NM_003466.4(PAX8):c.81G>A (p.Pro27=) GRCh37: Chr2:114004441 GRCh38: Chr2:113246864	PAX8, PAX8-AS1		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89320934.	NM_003466.4(PAX8):c.191+6C>G GRCh37: Chr2:114004325 GRCh38: Chr2:113246748	PAX8, PAX8-AS1		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89298335.	NM_003466.4(PAX8):c.280G>A (p.Asp94Asn) GRCh37: Chr2:114002113 GRCh38: Chr2:113244536	PAX8, PAX8-AS1	D94N	Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89298236.	NM_003466.4(PAX8):c.324A>T (p.Arg108=) GRCh37: Chr2:114002069 GRCh38: Chr2:113244492	PAX8, PAX8-AS1		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89298137.	NM_003466.4(PAX8):c.346G>A (p.Val116Ile) GRCh37: Chr2:114002047 GRCh38: Chr2:113244470	PAX8, PAX8-AS1	V116I	Inborn genetic diseases, Hypothyroidism, congenital, nongoitrous, 2	Conflicting interpretations of pathogenicity (Feb 10, 2022)	criteria provided, conflicting interpretations
Select item 89298038.	NM_003466.4(PAX8):c.441C>T (p.Cys147=) GRCh37: Chr2:114000304 GRCh38: Chr2:113242727	PAX8, PAX8-AS1		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 89294539.	NM_003466.4(PAX8):c.*290G>A GRCh37: Chr2:113975820 GRCh38: Chr2:113218243	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89294440.	NM_003466.4(PAX8):c.*343G>A GRCh37: Chr2:113975767 GRCh38: Chr2:113218190	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89294341.	NM_003466.4(PAX8):c.*372C>T GRCh37: Chr2:113975738 GRCh38: Chr2:113218161	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89291242.	NM_003466.4(PAX8):c.*1457G>A GRCh37: Chr2:113974653 GRCh38: Chr2:113217076	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89291143.	NM_003466.4(PAX8):c.*1490G>A GRCh37: Chr2:113974620 GRCh38: Chr2:113217043	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89291044.	NM_003466.4(PAX8):c.*1942C>T GRCh37: Chr2:113974168 GRCh38: Chr2:113216591	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87294245.	NM_003466.4(PAX8):c.203C>T (p.Thr68Ile) GRCh37: Chr2:114002190 GRCh38: Chr2:113244613	PAX8, PAX8-AS1	T68I	Hypothyroidism, congenital, nongoitrous, 2	Likely pathogenic (Oct 26, 2022)	criteria provided, single submitter
Select item 80174246.	NM_003466.4(PAX8):c.215G>A (p.Arg72Gln) GRCh37: Chr2:114002178 GRCh38: Chr2:113244601	PAX8, PAX8-AS1	R72Q	Hypothyroidism, congenital, nongoitrous, 2	Likely benign (May 28, 2019)	criteria provided, single submitter
Select item 80174147.	NM_003466.4(PAX8):c.709G>C (p.Glu237Gln) GRCh37: Chr2:113999196 GRCh38: Chr2:113241619	LOC126806316, PAX8, PAX8-AS1	E237Q	Hypothyroidism, congenital, nongoitrous, 2	Likely benign (May 28, 2019)	criteria provided, single submitter
Select item 80174048.	NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser) GRCh37: Chr2:113993030 GRCh38: Chr2:113235453	PAX8	N343S, M317V	Hypothyroidism, congenital, nongoitrous, 2	Conflicting interpretations of pathogenicity (May 28, 2019)	criteria provided, conflicting interpretations
Select item 80173949.	NM_003466.4(PAX8):c.1139C>T (p.Thr380Ile) GRCh37: Chr2:113984782 GRCh38: Chr2:113227205	PAX8	P277S, T380I, P354S	Hypothyroidism, congenital, nongoitrous, 2	Likely benign (May 28, 2019)	criteria provided, single submitter
Select item 76399950.	NM_003466.4(PAX8):c.1150G>A (p.Gly384Ser) GRCh37: Chr2:113984771 GRCh38: Chr2:113227194	PAX8	G384S	not specified, not provided, Hypothyroidism, congenital, nongoitrous, 2	Conflicting interpretations of pathogenicity (Oct 11, 2023)	criteria provided, conflicting interpretations
Select item 72325451.	NM_003466.4(PAX8):c.981C>T (p.Ser327=) GRCh37: Chr2:113993077 GRCh38: Chr2:113235500	PAX8	P301L	not provided, Inborn genetic diseases, Hypothyroidism, congenital, nongoitrous, 2	Conflicting interpretations of pathogenicity (Jan 21, 2022)	criteria provided, conflicting interpretations
Select item 71412852.	NM_003466.4(PAX8):c.704C>T (p.Pro235Leu) GRCh37: Chr2:113999201 GRCh38: Chr2:113241624	LOC126806316, PAX8, PAX8-AS1	P235L	not provided, Inborn genetic diseases, Hypothyroidism, congenital, nongoitrous, 2	Conflicting interpretations of pathogenicity (May 8, 2023)	criteria provided, conflicting interpretations
Select item 70439653.	NM_003466.4(PAX8):c.1116C>T (p.Pro372=) GRCh37: Chr2:113984805 GRCh38: Chr2:113227228	PAX8	P269L, P346L	Inborn genetic diseases, Hypothyroidism, congenital, nongoitrous, 2, not provided	Conflicting interpretations of pathogenicity (Sep 14, 2023)	criteria provided, conflicting interpretations
Select item 70334354.	NM_003466.4(PAX8):c.404A>G (p.Lys135Arg) GRCh37: Chr2:114000341 GRCh38: Chr2:113242764	PAX8, PAX8-AS1	K135R	not provided, Hypothyroidism, congenital, nongoitrous, 2	Benign/Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 70303055.	NM_003466.4(PAX8):c.1242C>T (p.Ser414=) GRCh37: Chr2:113977703 GRCh38: Chr2:113220126	PAX8	A388V, A277V, A311V	not provided, Hypothyroidism, congenital, nongoitrous, 2	Benign/Likely benign (Jul 20, 2018)	criteria provided, multiple submitters, no conflicts
Select item 70276956.	NM_003466.4(PAX8):c.1087+4C>T GRCh37: Chr2:113992967 GRCh38: Chr2:113235390	PAX8		not provided, Hypothyroidism, congenital, nongoitrous, 2	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 70238257.	NM_003466.4(PAX8):c.1143C>T (p.Ser381=) GRCh37: Chr2:113984778 GRCh38: Chr2:113227201	PAX8	A278V, A355V	Hypothyroidism, congenital, nongoitrous, 2, not provided	Benign (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70196158.	NM_003466.4(PAX8):c.1317A>G (p.Ala439=) GRCh37: Chr2:113976146 GRCh38: Chr2:113218569	PAX8		not provided, Hypothyroidism, congenital, nongoitrous, 2	Benign/Likely benign (Apr 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 43616559.	NM_003466.4(PAX8):c.160A>T (p.Ser54Cys) GRCh37: Chr2:114004362 GRCh38: Chr2:113246785	PAX8, PAX8-AS1	S54C	Hypothyroidism, congenital, nongoitrous, 2	Likely pathogenic (Nov 7, 2016)	criteria provided, single submitter
Select item 33089660.	NM_003466.4(PAX8):c.5C>T (p.Pro2Leu) GRCh37: Chr2:114035967 GRCh38: Chr2:113278390	PAX8	P2L	Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33089561.	NM_003466.4(PAX8):c.129G>A (p.Arg43=) GRCh37: Chr2:114004393 GRCh38: Chr2:113246816	PAX8, PAX8-AS1		not provided, Hypothyroidism, congenital, nongoitrous, 2	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 33089462.	NM_003466.4(PAX8):c.297C>T (p.Asn99=) GRCh37: Chr2:114002096 GRCh38: Chr2:113244519	PAX8-AS1, PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33089363.	NM_003466.4(PAX8):c.479-6C>T GRCh37: Chr2:113999713 GRCh38: Chr2:113242136	PAX8, PAX8-AS1		not provided, Hypothyroidism, congenital, nongoitrous, 2	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 33089264.	NM_003466.4(PAX8):c.501C>A (p.Pro167=) GRCh37: Chr2:113999685 GRCh38: Chr2:113242108	PAX8-AS1, LOC126806316, PAX8		not provided, Hypothyroidism, congenital, nongoitrous, 2	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 33089165.	NM_003466.4(PAX8):c.858G>T (p.Gly286=) GRCh37: Chr2:113994218 GRCh38: Chr2:113236641	PAX8, PAX8-AS1		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33089066.	NM_003466.4(PAX8):c.885C>T (p.Tyr295=) GRCh37: Chr2:113994191 GRCh38: Chr2:113236614	PAX8, PAX8-AS1		not provided, Hypothyroidism, congenital, nongoitrous, 2	Conflicting interpretations of pathogenicity (Jun 1, 2022)	criteria provided, conflicting interpretations
Select item 33088967.	NM_003466.4(PAX8):c.898+12G>A GRCh37: Chr2:113994166 GRCh38: Chr2:113236589	PAX8, PAX8-AS1		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33088868.	NM_003466.4(PAX8):c.1060C>G (p.Gln354Glu) GRCh37: Chr2:113992998 GRCh38: Chr2:113235421	PAX8	Q354E	Hypothyroidism, congenital, nongoitrous, 2, Inborn genetic diseases	Uncertain significance (Apr 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33088769.	NM_003466.4(PAX8):c.1185G>A (p.Val395=) GRCh37: Chr2:113984736 GRCh38: Chr2:113227159	PAX8	W292, W369	Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33088670.	NM_003466.4(PAX8):c.1189+15G>A GRCh37: Chr2:113984717 GRCh38: Chr2:113227140	PAX8		not provided, Hypothyroidism, congenital, nongoitrous, 2	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 33088571.	NM_003466.4(PAX8):c.1227C>G (p.Pro409=) GRCh37: Chr2:113977718 GRCh38: Chr2:113220141	PAX8	P306R, P383R, P272R	not provided, Hypothyroidism, congenital, nongoitrous, 2	Conflicting interpretations of pathogenicity (Jun 23, 2018)	criteria provided, conflicting interpretations
Select item 33088472.	NM_003466.4(PAX8):c.1267A>G (p.Ser423Gly) GRCh37: Chr2:113977678 GRCh38: Chr2:113220101	PAX8	S423G	Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33088373.	NM_003466.4(PAX8):c.1275G>A (p.Leu425=) GRCh37: Chr2:113977670 GRCh38: Chr2:113220093	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33088274.	NM_003466.4(PAX8):c.*187A>G GRCh37: Chr2:113975923 GRCh38: Chr2:113218346	PAX8		not provided, Hypothyroidism, congenital, nongoitrous, 2	Benign/Likely benign (Jun 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33088175.	NM_003466.4(PAX8):c.*204C>A GRCh37: Chr2:113975906 GRCh38: Chr2:113218329	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33088076.	NM_003466.4(PAX8):c.*368G>C GRCh37: Chr2:113975742 GRCh38: Chr2:113218165	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33087977.	NM_003466.4(PAX8):c.*423C>T GRCh37: Chr2:113975687 GRCh38: Chr2:113218110	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33087878.	NM_003466.4(PAX8):c.*627T>A GRCh37: Chr2:113975483 GRCh38: Chr2:113217906	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33087779.	NM_003466.4(PAX8):c.*703G>A GRCh37: Chr2:113975407 GRCh38: Chr2:113217830	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33087680.	NM_003466.4(PAX8):c.*708C>T GRCh37: Chr2:113975402 GRCh38: Chr2:113217825	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33087581.	NM_003466.4(PAX8):c.*764C>T GRCh37: Chr2:113975346 GRCh38: Chr2:113217769	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33087482.	NM_003466.4(PAX8):c.*789G>A GRCh37: Chr2:113975321 GRCh38: Chr2:113217744	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33087383.	NM_003466.4(PAX8):c.*845G>A GRCh37: Chr2:113975265 GRCh38: Chr2:113217688	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33087284.	NM_003466.4(PAX8):c.*938C>G GRCh37: Chr2:113975172 GRCh38: Chr2:113217595	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33087185.	NM_003466.4(PAX8):c.*1000T>C GRCh37: Chr2:113975110 GRCh38: Chr2:113217533	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33087086.	NM_003466.4(PAX8):c.*1006A>C GRCh37: Chr2:113975104 GRCh38: Chr2:113217527	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33086987.	NM_003466.4(PAX8):c.*1029G>A GRCh37: Chr2:113975081 GRCh38: Chr2:113217504	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33086888.	NM_003466.4(PAX8):c.*1044A>C GRCh37: Chr2:113975066 GRCh38: Chr2:113217489	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33086789.	NM_003466.4(PAX8):c.*1393A>G GRCh37: Chr2:113974717 GRCh38: Chr2:113217140	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33086690.	NM_003466.4(PAX8):c.*1765G>A GRCh37: Chr2:113974345 GRCh38: Chr2:113216768	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33086591.	NM_003466.4(PAX8):c.*1807C>G GRCh37: Chr2:113974303 GRCh38: Chr2:113216726	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33086492.	NM_003466.4(PAX8):c.*1914C>G GRCh37: Chr2:113974196 GRCh38: Chr2:113216619	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33086393.	NM_003466.4(PAX8):c.*1977T>C GRCh37: Chr2:113974133 GRCh38: Chr2:113216556	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33086294.	NM_003466.4(PAX8):c.*2033C>T GRCh37: Chr2:113974077 GRCh38: Chr2:113216500	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33086195.	NM_003466.4(PAX8):c.*2146A>G GRCh37: Chr2:113973964 GRCh38: Chr2:113216387	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33086096.	NM_003466.4(PAX8):c.*2192C>T GRCh37: Chr2:113973918 GRCh38: Chr2:113216341	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33085997.	NM_003466.4(PAX8):c.*2193G>A GRCh37: Chr2:113973917 GRCh38: Chr2:113216340	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33085898.	NM_003466.4(PAX8):c.*2309A>G GRCh37: Chr2:113973801 GRCh38: Chr2:113216224	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33085799.	NM_003466.4(PAX8):c.*2312G>A GRCh37: Chr2:113973798 GRCh38: Chr2:113216221	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 330856100.	NM_003466.4(PAX8):c.*2320G>A GRCh37: Chr2:113973790 GRCh38: Chr2:113216213	PAX8		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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