"GeneDx"[submitter] AND "PAX8"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 451049	NM_003466.4(PAX8):c.1280C>T (p.Ser427Phe)	PAX8 (S427F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1256914	NM_003466.4(PAX8):c.1276+215C>T	PAX8	Single nucleotide variant (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 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 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 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 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 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 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 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 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 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 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 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 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 1248911	NM_003466.4(PAX8):c.479-29C>A	PAX8, PAX8-AS1	Single nucleotide variant (intron variant)	not provided +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 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 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 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 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 3372163	NM_003466.4(PAX8):c.162_163delinsGA (p.Ser54_His55delinsArgAsn)	PAX8, PAX8-AS1	Indel (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 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 1236972	NM_003466.4(PAX8):c.25+197G>T	PAX8	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 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic
Select item 253541	GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1	TMEM87B, IL37 +40 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic
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

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Items: 52