PAX8-AS1[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208995	NM_003466.4(PAX8):c.938A>T (p.Glu313Val)	PAX8, PAX8-AS1 (E313V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1227992	NM_003466.4(PAX8):c.899-185T>G	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253765	NM_003466.4(PAX8):c.899-226G>C	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273942	NM_003466.4(PAX8):c.898+195A>G	PAX8, PAX8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1234501	NM_003466.4(PAX8):c.898+99G>A	PAX8, PAX8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 259051	NM_003466.4(PAX8):c.898+11C>T	PAX8, PAX8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 794467	NM_003466.4(PAX8):c.873T>G (p.Thr291=)	PAX8, PAX8-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 167418	NM_003466.4(PAX8):c.797T>C (p.Leu266Ser)	PAX8, PAX8-AS1 (L266S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1265957	NM_003466.4(PAX8):c.778-119C>A	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282643	NM_003466.4(PAX8):c.778-163C>T	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229593	NM_003466.4(PAX8):c.778-212T>C	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279624	NM_003466.4(PAX8):c.778-297G>A	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295128	NM_003466.4(PAX8):c.777+105A>G	LOC126806316, PAX8 +1 more	Single nucleotide variant (intron variant)	not provided	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 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 3208994	NM_003466.4(PAX8):c.746A>C (p.Tyr249Ser)	LOC126806316, PAX8 +1 more (Y249S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208993	NM_003466.4(PAX8):c.711G>C (p.Glu237Asp)	LOC126806316, PAX8 +1 more (E237D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 771623	NM_003466.4(PAX8):c.708C>T (p.Leu236=)	LOC126806316, PAX8 +1 more	Single nucleotide variant (synonymous variant)	PAX8-related condition +1 more	GLikely benign
Select item 706366	NM_003466.4(PAX8):c.705G>A (p.Pro235=)	LOC126806316, PAX8 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714128	NM_003466.4(PAX8):c.704C>T (p.Pro235Leu)	LOC126806316, PAX8 +1 more (P235L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1209482	NM_003466.4(PAX8):c.701A>G (p.Glu234Gly)	PAX8-AS1, LOC126806316 +1 more (E234G)	Single nucleotide variant (missense variant)	not provided	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 1878900	NM_003466.4(PAX8):c.673A>C (p.Thr225Pro)	LOC126806316, PAX8 +1 more (T225P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 988652	NM_003466.4(PAX8):c.658C>T (p.Arg220Ter)	LOC126806316, PAX8 +1 more (R220*)	Single nucleotide variant (nonsense)	Congenital hypothyroidism	GPathogenic
Select item 722256	NM_003466.4(PAX8):c.651C>T (p.Ser217=)	LOC126806316, PAX8 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571082	NM_003466.4(PAX8):c.632A>G (p.Asp211Gly)	LOC126806316, PAX8 +1 more (D211G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2295406	NM_003466.4(PAX8):c.620G>A (p.Arg207Gln)	LOC126806316, PAX8 +1 more (R207Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1678443	NM_003466.4(PAX8):c.619C>T (p.Arg207Ter)	LOC126806316, PAX8 +1 more (R207*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3208992	NM_003466.4(PAX8):c.609G>A (p.Gln203=)	LOC126806316, PAX8 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 1326506	NM_003466.4(PAX8):c.602-12G>A	LOC126806316, PAX8 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1288664	NM_003466.4(PAX8):c.601+51C>G	LOC126806316, PAX8 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2233164	NM_003466.4(PAX8):c.601+6T>A	LOC126806316, PAX8 +1 more	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1328866	NM_003466.4(PAX8):c.601A>C (p.Ser201Arg)	LOC126806316, PAX8 +1 more (S201R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2265442	NM_003466.4(PAX8):c.593T>C (p.Met198Thr)	LOC126806316, PAX8 +1 more (M198T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1049019	NM_003466.4(PAX8):c.580G>A (p.Asp194Asn)	LOC126806316, PAX8 +1 more (D194N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2347563	NM_003466.4(PAX8):c.565G>A (p.Ala189Thr)	LOC126806316, PAX8 +1 more (A189T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629114	NM_003466.4(PAX8):c.530G>T (p.Gly177Val)	LOC126806316, PAX8 +1 more (G177V)	Single nucleotide variant (missense variant)	PAX8-related condition	GUncertain significance
Select item 2606251	NM_003466.4(PAX8):c.530G>A (p.Gly177Asp)	LOC126806316, PAX8 +1 more (G177D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 795092	NM_003466.4(PAX8):c.519G>A (p.Ser173=)	LOC126806316, PAX8 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538862	NM_003466.4(PAX8):c.514C>G (p.Gln172Glu)	LOC126806316, PAX8 +1 more (Q172E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 1230567	NM_003466.4(PAX8):c.479-68C>T	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295158	NM_003466.4(PAX8):c.479-119T>C	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226349	NM_003466.4(PAX8):c.479-236_479-235del	PAX8, PAX8-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1295153	NM_003466.4(PAX8):c.478+135G>A	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259050	NM_003466.4(PAX8):c.478+16C>T	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 167419	NM_003466.4(PAX8):c.473C>T (p.Thr158Met)	PAX8, PAX8-AS1 (T158M)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2 +2 more	GUncertain significance
Select item 2371923	NM_003466.4(PAX8):c.466G>A (p.Gly156Arg)	PAX8, PAX8-AS1 (G156R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 988649	NM_003466.4(PAX8):c.397C>T (p.Arg133Trp)	PAX8-AS1, PAX8 (R133W)	Single nucleotide variant (missense variant)	Congenital hypothyroidism	GPathogenic
Select item 1252666	NM_003466.4(PAX8):c.390-103G>T	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268465	NM_003466.4(PAX8):c.389+101G>A	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289111	NM_003466.4(PAX8):c.389+83T>C	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 702546	NM_003466.4(PAX8):c.372T>C (p.Ser124=)	PAX8, PAX8-AS1	Single nucleotide variant (synonymous variant)	PAX8-related condition +1 more	GBenign/Likely benign
Select item 892981	NM_003466.4(PAX8):c.346G>A (p.Val116Ile)	PAX8, PAX8-AS1 (V116I)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2 +1 more	GConflicting classifications of pathogenicity
Select item 2443661	NM_003466.4(PAX8):c.325G>C (p.Asp109His)	PAX8, PAX8-AS1 (D109H)	Single nucleotide variant (missense variant)	not provided	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 13783	NM_003466.4(PAX8):c.322C>T (p.Arg108Ter)	PAX8, PAX8-AS1 (R108*)	Single nucleotide variant (nonsense)	Hypothyroidism, congenital, nongoitrous, 2	GPathogenic
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 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 426842	NM_003466.4(PAX8):c.278G>C (p.Gly93Ala)	PAX8, PAX8-AS1 (G93A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 436164	NM_003466.4(PAX8):c.257C>G (p.Pro86Arg)	PAX8, PAX8-AS1 (P86R)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 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 1238387	NM_003466.4(PAX8):c.192-244A>G	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236366	NM_003466.4(PAX8):c.191+94C>T	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 13785	NM_003466.4(PAX8):c.185T>G (p.Leu62Arg)	PAX8, PAX8-AS1 (L62R)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GPathogenic
Select item 13786	NM_003466.4(PAX8):c.170G>A (p.Cys57Tyr)	PAX8, PAX8-AS1 (C57Y)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GPathogenic
Select item 156342	NM_003466.4(PAX8):c.165T>G (p.His55Gln)	PAX8, PAX8-AS1 (H55Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 13787	NM_003466.4(PAX8):c.160A>G (p.Ser54Gly)	PAX8, PAX8-AS1 (S54G)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GPathogenic
Select item 13789	NM_003466.4(PAX8):c.143C>T (p.Ser48Phe)	PAX8, PAX8-AS1 (S48F)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GPathogenic
Select item 1711505	NM_003466.4(PAX8):c.136G>A (p.Asp46Asn)	PAX8, PAX8-AS1 (D46N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1206735	NM_003466.4(PAX8):c.122G>A (p.Gly41Asp)	PAX8, PAX8-AS1 (G41D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13788	NM_003466.4(PAX8):c.119A>C (p.Gln40Pro)	PAX8, PAX8-AS1 (Q40P)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GPathogenic
Select item 988648	NM_003466.4(PAX8):c.101T>A (p.Ile34Asn)	PAX8-AS1, PAX8 (I34N)	Single nucleotide variant (missense variant)	Congenital hypothyroidism	GPathogenic
Select item 932365	NM_003466.4(PAX8):c.97C>T (p.Arg33Cys)	PAX8, PAX8-AS1 (R33C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13784	NM_003466.4(PAX8):c.92G>A (p.Arg31His)	PAX8, PAX8-AS1 (R31H)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GPathogenic
Select item 986916	NM_003466.4(PAX8):c.91C>T (p.Arg31Cys)	PAX8, PAX8-AS1 (R31C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 743765	NM_003466.4(PAX8):c.75T>C (p.Pro25=)	PAX8, PAX8-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1803582	NM_003466.4(PAX8):c.31G>A (p.Gly11Arg)	PAX8, PAX8-AS1 (G11R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 98