ClinVar for Gene (Select 7849) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372163	NM_003466.4(PAX8):c.162_163delinsGA (p.Ser54_His55delinsArgAsn)	PAX8, PAX8-AS1	Indel (missense variant)	not provided	GUncertain significance
Select item 3362490	NM_003466.4(PAX8):c.591A>C (p.Lys197Asn)	LOC126806316, PAX8 +1 more (K197N)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 3360661	NM_003466.4(PAX8):c.1256T>G (p.Phe419Cys)	PAX8 (F419C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339593	NM_003466.4(PAX8):c.729G>A (p.Gln243=)	LOC126806316, PAX8 +1 more	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3304478	NM_003466.4(PAX8):c.961C>T (p.Pro321Ser)	PAX8 (P321S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3304477	NM_003466.4(PAX8):c.1223C>A (p.Thr408Asn)	PAX8 (P271T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208996	NM_003466.4(PAX8):c.974C>A (p.Ser325Tyr)	PAX8 (S325Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 3208991	NM_003466.4(PAX8):c.1310C>T (p.Pro437Leu)	PAX8 (P437L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3208990	NM_003466.4(PAX8):c.1040A>G (p.His347Arg)	PAX8 (H347R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
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 2629114	NM_003466.4(PAX8):c.530G>T (p.Gly177Val)	LOC126806316, PAX8 +1 more (G177V)	Single nucleotide variant (missense variant)	PAX8-related disorder	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 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 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 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 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 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 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 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 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 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 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 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 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 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 2224329	NM_003466.4(PAX8):c.1050C>A (p.Ser350=)	PAX8 (P324Q)	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
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 1803582	NM_003466.4(PAX8):c.31G>A (p.Gly11Arg)	PAX8, PAX8-AS1 (G11R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1708803	NM_003466.4(PAX8):c.1145del (p.Gly382fs)	PAX8 (D279fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
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 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1404869	NM_003466.4(PAX8):c.754C>G (p.Pro252Ala)	LOC126806316, PAX8 +1 more (P252A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1341214	GRCh37/hg19 2q13(chr2:113295194-114085649)x3	CHCHD5, CKAP2L +14 more	Copy number gain	not provided	GUncertain significance
Select item 1340383	GRCh37/hg19 2q13-14.1(chr2:113609489-115817535)x3	ACTR3, CBWD2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
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 1328393	NM_003466.4(PAX8):c.237dup (p.Lys80fs)	PAX8, PAX8-AS1 (K80fs)	Duplication (frameshift variant)	Hypothyroidism, congenital, nongoitrous, 2	GLikely pathogenic
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 1303477	NM_003466.4(PAX8):c.1109C>T (p.Thr370Met)	PAX8 (R267C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1295158	NM_003466.4(PAX8):c.479-119T>C	PAX8, PAX8-AS1	Single nucleotide variant (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 1295128	NM_003466.4(PAX8):c.777+105A>G	LOC126806316, PAX8 +1 more	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 1288664	NM_003466.4(PAX8):c.601+51C>G	LOC126806316, PAX8 +1 more	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 1282643	NM_003466.4(PAX8):c.778-163C>T	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 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 1272059	NM_003466.4(PAX8):c.1087+169_1087+170del	LOC129934613, PAX8	Deletion (intron variant)	not provided	GBenign
Select item 1271887	NM_003466.4(PAX8):c.1190-107A>C	PAX8	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 1266961	NM_003466.4(PAX8):c.1088-353G>C	PAX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265957	NM_003466.4(PAX8):c.778-119C>A	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265338	NM_003466.4(PAX8):c.25+24T>C	PAX8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1264919	NM_003466.4(PAX8):c.1190-181G>A	PAX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260851	NM_003466.4(PAX8):c.1088-337G>A	PAX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256914	NM_003466.4(PAX8):c.1276+215C>T	PAX8	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 1252666	NM_003466.4(PAX8):c.390-103G>T	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248911	NM_003466.4(PAX8):c.479-29C>A	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1243803	NM_003466.4(PAX8):c.1189+229G>A	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 1238387	NM_003466.4(PAX8):c.192-244A>G	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236972	NM_003466.4(PAX8):c.25+197G>T	PAX8	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 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 1230567	NM_003466.4(PAX8):c.479-68C>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 1227992	NM_003466.4(PAX8):c.899-185T>G	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 1209482	NM_003466.4(PAX8):c.701A>G (p.Glu234Gly)	LOC126806316, PAX8 +1 more (E234G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 988652	NM_003466.4(PAX8):c.658C>T (p.Arg220Ter)	LOC126806316, PAX8 +1 more (R220*)	Single nucleotide variant (nonsense)	Congenital hypothyroidism	GPathogenic
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 988648	NM_003466.4(PAX8):c.101T>A (p.Ile34Asn)	PAX8-AS1, PAX8 (I34N)	Single nucleotide variant (missense variant)	Congenital hypothyroidism	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 980470	GRCh37/hg19 2q13(chr2:113853399-114095549)x1	PAX8, IL1RN +1 more	Copy number loss	not provided	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 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

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