PAX8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 330850	NM_003466.4(PAX8):c.*2527A>G	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330851	NM_003466.4(PAX8):c.*2517C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330852	NM_003466.4(PAX8):c.2503_2504dup	PAX8	Duplication (3 prime UTR variant)	Congenital hypothyroidism	GUncertain significance
Select item 330853	NM_003466.4(PAX8):c.*2478C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GBenign
Select item 893954	NM_003466.4(PAX8):c.*2475C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330854	NM_003466.4(PAX8):c.*2409C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 893955	NM_003466.4(PAX8):c.*2368C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330855	NM_003466.4(PAX8):c.*2326A>G	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330856	NM_003466.4(PAX8):c.*2320G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330857	NM_003466.4(PAX8):c.*2312G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330858	NM_003466.4(PAX8):c.*2309A>G	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GBenign
Select item 894354	NM_003466.4(PAX8):c.*2276G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894355	NM_003466.4(PAX8):c.*2231C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330859	NM_003466.4(PAX8):c.*2193G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330860	NM_003466.4(PAX8):c.*2192C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330861	NM_003466.4(PAX8):c.*2146A>G	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GBenign
Select item 894356	NM_003466.4(PAX8):c.*2044G>C	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330862	NM_003466.4(PAX8):c.*2033C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330863	NM_003466.4(PAX8):c.*1977T>C	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 892910	NM_003466.4(PAX8):c.*1942C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330864	NM_003466.4(PAX8):c.*1914C>G	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GBenign
Select item 330865	NM_003466.4(PAX8):c.*1807C>G	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330866	NM_003466.4(PAX8):c.*1765G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 892911	NM_003466.4(PAX8):c.*1490G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 892912	NM_003466.4(PAX8):c.*1457G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330867	NM_003466.4(PAX8):c.*1393A>G	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 893718	NM_003466.4(PAX8):c.*1186G>C	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 893719	NM_003466.4(PAX8):c.*1066G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 893720	NM_003466.4(PAX8):c.*1060C>G	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330868	NM_003466.4(PAX8):c.*1044A>C	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GBenign
Select item 330869	NM_003466.4(PAX8):c.*1029G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330870	NM_003466.4(PAX8):c.*1006A>C	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GBenign
Select item 330871	NM_003466.4(PAX8):c.*1000T>C	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GBenign
Select item 330872	NM_003466.4(PAX8):c.*938C>G	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 893983	NM_003466.4(PAX8):c.*897C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330873	NM_003466.4(PAX8):c.*845G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 893984	NM_003466.4(PAX8):c.*844C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330874	NM_003466.4(PAX8):c.*789G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 893985	NM_003466.4(PAX8):c.*766C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330875	NM_003466.4(PAX8):c.*764C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330876	NM_003466.4(PAX8):c.*708C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330877	NM_003466.4(PAX8):c.*703G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 894384	NM_003466.4(PAX8):c.*697C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 894385	NM_003466.4(PAX8):c.*664T>C	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330878	NM_003466.4(PAX8):c.*627T>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GLikely benign
Select item 894386	NM_003466.4(PAX8):c.*612G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 894387	NM_003466.4(PAX8):c.*527G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 894388	NM_003466.4(PAX8):c.*501C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 894389	NM_003466.4(PAX8):c.*472C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330879	NM_003466.4(PAX8):c.*423C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 892943	NM_003466.4(PAX8):c.*372C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330880	NM_003466.4(PAX8):c.*368G>C	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 892944	NM_003466.4(PAX8):c.*343G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 892945	NM_003466.4(PAX8):c.*290G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330881	NM_003466.4(PAX8):c.*204C>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330882	NM_003466.4(PAX8):c.*187A>G	PAX8	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 701961	NM_003466.4(PAX8):c.1317A>G (p.Ala439=)	PAX8	Single nucleotide variant (synonymous variant +1 more)	Hypothyroidism, congenital, nongoitrous, 2 +1 more	GBenign/Likely benign
Select item 451049	NM_003466.4(PAX8):c.1280C>T (p.Ser427Phe)	PAX8 (S427F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1029704	NM_003466.4(PAX8):c.1277-10A>G	PAX8	Single nucleotide variant (intron variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 1256914	NM_003466.4(PAX8):c.1276+215C>T	PAX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 330883	NM_003466.4(PAX8):c.1275G>A (p.Leu425=)	PAX8	Single nucleotide variant (synonymous variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330884	NM_003466.4(PAX8):c.1267A>G (p.Ser423Gly)	PAX8 (S423G)	Single nucleotide variant (missense variant +1 more)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 703030	NM_003466.4(PAX8):c.1242C>T (p.Ser414=)	PAX8 (A388V +2 more)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 330885	NM_003466.4(PAX8):c.1227C>G (p.Pro409=)	PAX8 (P306R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 870687	NM_003466.4(PAX8):c.1226C>G (p.Pro409Arg)	PAX8 (P272A +3 more)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2 +1 more	GUncertain significance
Select item 767072	NM_003466.4(PAX8):c.1190-10C>T	PAX8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271887	NM_003466.4(PAX8):c.1190-107A>C	PAX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243237	NM_003466.4(PAX8):c.1190-127G>A	PAX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264919	NM_003466.4(PAX8):c.1190-181G>A	PAX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243803	NM_003466.4(PAX8):c.1189+229G>A	PAX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287109	NM_003466.4(PAX8):c.1189+138A>G	PAX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 330886	NM_003466.4(PAX8):c.1189+15G>A	PAX8	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2434583	NM_003466.4(PAX8):c.1189G>A (p.Gly397Arg)	PAX8 (G397R)	Single nucleotide variant (missense variant +2 more)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330887	NM_003466.4(PAX8):c.1185G>A (p.Val395=)	PAX8 (W292* +1 more)	Single nucleotide variant (synonymous variant +2 more)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 763999	NM_003466.4(PAX8):c.1150G>A (p.Gly384Ser)	PAX8 (G384S)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1708803	NM_003466.4(PAX8):c.1145del (p.Gly382fs)	PAX8 (D279fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 702382	NM_003466.4(PAX8):c.1143C>T (p.Ser381=)	PAX8 (A278V +1 more)	Single nucleotide variant (synonymous variant +2 more)	Hypothyroidism, congenital, nongoitrous, 2 +1 more	GBenign
Select item 801739	NM_003466.4(PAX8):c.1139C>T (p.Thr380Ile)	PAX8 (P277S +2 more)	Single nucleotide variant (missense variant +1 more)	Hypothyroidism, congenital, nongoitrous, 2	GLikely benign
Select item 704396	NM_003466.4(PAX8):c.1116C>T (p.Pro372=)	PAX8 (P269L +1 more)	Single nucleotide variant (synonymous variant +2 more)	PAX8-related condition +3 more	GConflicting classifications of pathogenicity
Select item 714962	NM_003466.4(PAX8):c.1110G>A (p.Thr370=)	PAX8 (R267H +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1303477	NM_003466.4(PAX8):c.1109C>T (p.Thr370Met)	PAX8 (R267C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2546757	NM_003466.4(PAX8):c.1098G>A (p.Met366Ile)	PAX8 (M366I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2395210	NM_003466.4(PAX8):c.1091G>A (p.Arg364Gln)	PAX8 (E261K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1260851	NM_003466.4(PAX8):c.1088-337G>A	PAX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266961	NM_003466.4(PAX8):c.1088-353G>C	PAX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272059	NM_003466.4(PAX8):c.1087+169_1087+170del	LOC129934613, PAX8	Deletion (intron variant)	not provided	GBenign
Select item 706219	NM_003466.4(PAX8):c.1087+5G>A	PAX8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 702769	NM_003466.4(PAX8):c.1087+4C>T	PAX8	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 330888	NM_003466.4(PAX8):c.1060C>G (p.Gln354Glu)	PAX8 (Q354E)	Single nucleotide variant (missense variant +2 more)	Hypothyroidism, congenital, nongoitrous, 2 +1 more	GUncertain significance
Select item 2224329	NM_003466.4(PAX8):c.1050C>A (p.Ser350=)	PAX8 (P324Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2319152	NM_003466.4(PAX8):c.1045G>C (p.Ala349Pro)	PAX8 (A349P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 801740	NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser)	PAX8 (N343S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypothyroidism, congenital, nongoitrous, 2	GConflicting classifications of pathogenicity
Select item 598954	NM_003466.4(PAX8):c.1011del (p.Val339fs)	PAX8 (V339fs +1 more)	Deletion (frameshift variant +1 more)	Obesity +4 more	GUncertain significance
Select item 518071	NM_003466.4(PAX8):c.1011C>T (p.Ser337=)	PAX8 (P311L)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 894021	NM_003466.4(PAX8):c.1009T>G (p.Ser337Ala)	PAX8 (S337A)	Single nucleotide variant (missense variant +2 more)	Hypothyroidism, congenital, nongoitrous, 2 +2 more	GConflicting classifications of pathogenicity
Select item 13782	NM_003466.4(PAX8):c.985T>C (p.Phe329Leu)	PAX8 (F329L)	Single nucleotide variant (missense variant +2 more)	PAX8-related condition +2 more	GBenign/Likely benign
Select item 799364	NM_003466.4(PAX8):c.984C>T (p.Ala328=)	PAX8 (P302L)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 723254	NM_003466.4(PAX8):c.981C>T (p.Ser327=)	PAX8 (P301L)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2574345	NM_003466.4(PAX8):c.962C>A (p.Pro321His)	PAX8 (P321H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 794048	NM_003466.4(PAX8):c.960C>G (p.Thr320=)	PAX8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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