ClinVar for MedGen (Select 358389) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064708	NM_007344.4(TTF1):c.1987+1G>C	TTF1	Single nucleotide variant (splice donor variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 3062111	NM_003466.4(PAX8):c.205G>A (p.Gly69Ser)	PAX8, PAX8-AS1 (G69S)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GLikely pathogenic
Select item 2434584	NM_003466.4(PAX8):c.670C>T (p.Arg224Cys)	LOC126806316, PAX8 +1 more (R224C)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
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 1404869	NM_003466.4(PAX8):c.754C>G (p.Pro252Ala)	LOC126806316, PAX8 +1 more (P252A)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2 +1 more	GUncertain significance
Select item 1328393	NM_003466.4(PAX8):c.237dup (p.Lys80fs)	PAX8, PAX8-AS1 (K80fs)	Duplication (frameshift variant)	Hypothyroidism, congenital, nongoitrous, 2	GLikely pathogenic
Select item 1265338	NM_003466.4(PAX8):c.25+24T>C	PAX8	Single nucleotide variant (intron variant)	Hypothyroidism, congenital, nongoitrous, 2 +1 more	GBenign
Select item 1248911	NM_003466.4(PAX8):c.479-29C>A	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	Hypothyroidism, congenital, nongoitrous, 2 +1 more	GBenign
Select item 1029705	NM_003466.4(PAX8):c.777G>C (p.Gln259His)	LOC126806316, PAX8 +1 more (Q259H)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	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 915465	NM_003466.4(PAX8):c.457_458del (p.Leu153fs)	PAX8, PAX8-AS1 (L153fs)	Deletion (frameshift variant)	Hypothyroidism, congenital, nongoitrous, 2	GPathogenic
Select item 915464	NM_003466.4(PAX8):c.236C>T (p.Ser79Phe)	PAX8, PAX8-AS1 (S79F)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GLikely pathogenic
Select item 894421	NM_003466.4(PAX8):c.602G>A (p.Ser201Asn)	LOC126806316, PAX8 +1 more (S201N)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 894420	NM_003466.4(PAX8):c.700G>A (p.Glu234Lys)	LOC126806316, PAX8 +1 more (E234K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 894419	NM_003466.4(PAX8):c.817G>A (p.Asp273Asn)	PAX8, PAX8-AS1 (D273N)	Single nucleotide variant (missense variant +1 more)	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 894388	NM_003466.4(PAX8):c.*501C>T	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 894386	NM_003466.4(PAX8):c.*612G>A	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 894384	NM_003466.4(PAX8):c.*697C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
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 894355	NM_003466.4(PAX8):c.*2231C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
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 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 893985	NM_003466.4(PAX8):c.*766C>T	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 893983	NM_003466.4(PAX8):c.*897C>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 893954	NM_003466.4(PAX8):c.*2475C>T	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 893719	NM_003466.4(PAX8):c.*1066G>A	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 893212	NM_003466.4(PAX8):c.-75-4G>T	LOC108281110, PAX8	Single nucleotide variant (intron variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 893211	NM_003466.4(PAX8):c.-63C>A	LOC108281110, PAX8	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893210	NM_003466.4(PAX8):c.81G>A (p.Pro27=)	PAX8, PAX8-AS1	Single nucleotide variant (synonymous variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 893209	NM_003466.4(PAX8):c.191+6C>G	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 892983	NM_003466.4(PAX8):c.280G>A (p.Asp94Asn)	PAX8, PAX8-AS1 (D94N)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 892982	NM_003466.4(PAX8):c.324A>T (p.Arg108=)	PAX8, PAX8-AS1	Single nucleotide variant (synonymous variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 892981	NM_003466.4(PAX8):c.346G>A (p.Val116Ile)	PAX8, PAX8-AS1 (V116I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 892980	NM_003466.4(PAX8):c.441C>T (p.Cys147=)	PAX8, PAX8-AS1	Single nucleotide variant (synonymous 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 892944	NM_003466.4(PAX8):c.*343G>A	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 892912	NM_003466.4(PAX8):c.*1457G>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 892910	NM_003466.4(PAX8):c.*1942C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 872942	NM_003466.4(PAX8):c.203C>T (p.Thr68Ile)	PAX8, PAX8-AS1 (T68I)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GLikely pathogenic
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 801742	NM_003466.4(PAX8):c.215G>A (p.Arg72Gln)	PAX8, PAX8-AS1 (R72Q)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GLikely benign
Select item 801741	NM_003466.4(PAX8):c.709G>C (p.Glu237Gln)	LOC126806316, PAX8 +1 more (E237Q)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GLikely benign
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 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 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 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 714128	NM_003466.4(PAX8):c.704C>T (p.Pro235Leu)	LOC126806316, PAX8 +1 more (P235L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 703343	NM_003466.4(PAX8):c.404A>G (p.Lys135Arg)	PAX8, PAX8-AS1 (K135R)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2 +1 more	GBenign/Likely benign
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 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 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 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 436165	NM_003466.4(PAX8):c.160A>T (p.Ser54Cys)	PAX8, PAX8-AS1 (S54C)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GLikely pathogenic
Select item 330896	NM_003466.4(PAX8):c.5C>T (p.Pro2Leu)	PAX8 (P2L)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330895	NM_003466.4(PAX8):c.129G>A (p.Arg43=)	PAX8, PAX8-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 330894	NM_003466.4(PAX8):c.297C>T (p.Asn99=)	PAX8-AS1, PAX8	Single nucleotide variant (synonymous variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330893	NM_003466.4(PAX8):c.479-6C>T	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 330892	NM_003466.4(PAX8):c.501C>A (p.Pro167=)	LOC126806316, PAX8 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 330891	NM_003466.4(PAX8):c.858G>T (p.Gly286=)	PAX8, PAX8-AS1	Single nucleotide variant (synonymous variant +1 more)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 330890	NM_003466.4(PAX8):c.885C>T (p.Tyr295=)	PAX8, PAX8-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 330889	NM_003466.4(PAX8):c.898+12G>A	PAX8, PAX8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
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 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 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 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 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 330883	NM_003466.4(PAX8):c.1275G>A (p.Leu425=)	PAX8	Single nucleotide variant (synonymous 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 330881	NM_003466.4(PAX8):c.*204C>A	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 330879	NM_003466.4(PAX8):c.*423C>T	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 330877	NM_003466.4(PAX8):c.*703G>A	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 330875	NM_003466.4(PAX8):c.*764C>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 330873	NM_003466.4(PAX8):c.*845G>A	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
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 330871	NM_003466.4(PAX8):c.*1000T>C	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GBenign
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 330869	NM_003466.4(PAX8):c.*1029G>A	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 330867	NM_003466.4(PAX8):c.*1393A>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 330865	NM_003466.4(PAX8):c.*1807C>G	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 330863	NM_003466.4(PAX8):c.*1977T>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 330861	NM_003466.4(PAX8):c.*2146A>G	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GBenign
Select item 330860	NM_003466.4(PAX8):c.*2192C>T	PAX8	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance

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