TXNRD1[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 149859	GRCh38/hg38 12q23.3(chr12:103500125-104726872)x1	C12orf42, CHST11 +115 more	Copy number loss	See cases	GUncertain significance
Select item 996962	NC_000012.12:g.104124548_104227635dup	LINC02385, LOC111413045 +14 more	Duplication	See cases	GUncertain significance
Select item 2349375	NM_001093771.3(TXNRD1):c.103C>G (p.His35Asp)	TXNRD1 (H35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749312	NM_001093771.3(TXNRD1):c.135A>G (p.Ala45=)	TXNRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725773	NM_001093771.3(TXNRD1):c.167G>C (p.Arg56Thr)	TXNRD1 (R56T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2329440	NM_001093771.3(TXNRD1):c.232C>T (p.Arg78Cys)	TXNRD1 (R78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728475	NM_001093771.3(TXNRD1):c.252G>A (p.Lys84=)	TXNRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2382832	NM_001093771.3(TXNRD1):c.269G>T (p.Cys90Phe)	TXNRD1 (C90F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709457	NM_001093771.3(TXNRD1):c.310G>A (p.Gly104Ser)	TXNRD1 (G4S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2264505	NM_001093771.3(TXNRD1):c.316G>A (p.Ala106Thr)	TXNRD1 (A106T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185211	NM_001093771.3(TXNRD1):c.389T>C (p.Ile130Thr)	TXNRD1 (I130T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 799434	NM_001093771.3(TXNRD1):c.414+9G>T	TXNRD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2493919	NM_001008394.3(EID3):c.7A>G (p.Met3Val)	EID3, TXNRD1 (M3V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2601848	NM_001008394.3(EID3):c.25G>C (p.Ala9Pro)	EID3, TXNRD1 (A9P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530669	NM_001008394.3(EID3):c.31G>A (p.Gly11Ser)	EID3, TXNRD1 (G11S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614529	NM_001008394.3(EID3):c.32G>A (p.Gly11Asp)	EID3, TXNRD1 (G11D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383228	NM_001008394.3(EID3):c.47T>G (p.Leu16Arg)	EID3, TXNRD1 (L16R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087835	NM_001008394.3(EID3):c.101A>G (p.Glu34Gly)	EID3, TXNRD1 (E34G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087836	NM_001008394.3(EID3):c.143T>G (p.Met48Arg)	EID3, TXNRD1 (M48R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087837	NM_001008394.3(EID3):c.214G>A (p.Glu72Lys)	EID3, TXNRD1 (E72K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216886	NM_001008394.3(EID3):c.215A>T (p.Glu72Val)	EID3, TXNRD1 (E72V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087838	NM_001008394.3(EID3):c.255A>T (p.Glu85Asp)	EID3, TXNRD1 (E85D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520116	NM_001008394.3(EID3):c.269C>T (p.Ala90Val)	EID3, TXNRD1 (A90V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087839	NM_001008394.3(EID3):c.339C>A (p.Phe113Leu)	EID3, TXNRD1 (F113L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365747	NM_001008394.3(EID3):c.361G>T (p.Asp121Tyr)	EID3, TXNRD1 (D121Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378295	NM_001008394.3(EID3):c.426T>G (p.Cys142Trp)	EID3, TXNRD1 (C142W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226524	NM_001008394.3(EID3):c.581A>G (p.Lys194Arg)	EID3, TXNRD1 (K194R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277076	NM_001008394.3(EID3):c.638A>T (p.Tyr213Phe)	EID3, TXNRD1 (Y213F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087840	NM_001008394.3(EID3):c.758C>A (p.Ser253Tyr)	EID3, TXNRD1 (S253Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610474	NM_001008394.3(EID3):c.796G>T (p.Val266Leu)	EID3, TXNRD1 (V266L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087841	NM_001008394.3(EID3):c.880G>A (p.Gly294Arg)	EID3, TXNRD1 (G294R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087842	NM_001008394.3(EID3):c.942G>T (p.Trp314Cys)	EID3, TXNRD1 (W314C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087843	NM_001008394.3(EID3):c.949A>G (p.Ile317Val)	EID3, TXNRD1 (I317V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527878	NM_001008394.3(EID3):c.952G>C (p.Val318Leu)	EID3, TXNRD1 (V318L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 724046	NM_001093771.3(TXNRD1):c.562G>A (p.Val188Met)	TXNRD1 (V90M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3185212	NM_001093771.3(TXNRD1):c.592C>T (p.Pro198Ser)	TXNRD1 (P10S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185213	NM_001093771.3(TXNRD1):c.616G>A (p.Gly206Arg)	TXNRD1 (G108R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329399	NM_001093771.3(TXNRD1):c.634G>A (p.Val212Met)	TXNRD1 (V24M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185214	NM_001093771.3(TXNRD1):c.696C>G (p.Asp232Glu)	TXNRD1 (D132E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479505	NM_001093771.3(TXNRD1):c.701G>A (p.Arg234Gln)	TXNRD1 (R134Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268660	NM_001093771.3(TXNRD1):c.776T>C (p.Ile259Thr)	TXNRD1 (I109T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185215	NM_001093771.3(TXNRD1):c.793G>A (p.Gly265Ser)	TXNRD1 (G115S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185216	NM_001093771.3(TXNRD1):c.812G>A (p.Arg271Gln)	TXNRD1 (R121Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222699	NM_001093771.3(TXNRD1):c.826G>A (p.Val276Ile)	TXNRD1 (V176I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559521	NM_001093771.3(TXNRD1):c.874G>A (p.Ala292Thr)	TXNRD1 (A194T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539567	NM_001093771.3(TXNRD1):c.947G>A (p.Arg316His)	TXNRD1 (R128H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776745	NM_001093771.3(TXNRD1):c.990-8T>C	TXNRD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 727044	NM_001093771.3(TXNRD1):c.990-7C>T	TXNRD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3185207	NM_001093771.3(TXNRD1):c.1028C>T (p.Thr343Ile)	TXNRD1 (T155I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288603	NM_001093771.3(TXNRD1):c.1117A>G (p.Ile373Val)	TXNRD1 (I275V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300187	NM_001093771.3(TXNRD1):c.1203C>A (p.Phe401Leu)	TXNRD1 (F213L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376206	NM_001093771.3(TXNRD1):c.1204G>A (p.Val402Ile)	TXNRD1 (V302I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289029	NM_001093771.3(TXNRD1):c.1240C>T (p.Pro414Ser)	TXNRD1 (P226S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317234	NM_001093771.3(TXNRD1):c.1247G>A (p.Arg416Gln)	TXNRD1 (R228Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712609	NM_001093771.3(TXNRD1):c.1341A>G (p.Thr447=)	TXNRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733374	NM_001093771.3(TXNRD1):c.1362C>T (p.Thr454=)	TXNRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3185209	NM_001093771.3(TXNRD1):c.1369G>A (p.Val457Met)	TXNRD1 (V357M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343211	NM_001093771.3(TXNRD1):c.1376T>C (p.Ile459Thr)	TXNRD1 (I309T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217626	NM_001093771.3(TXNRD1):c.1405A>G (p.Thr469Ala)	TXNRD1 (T319A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486452	NM_001093771.3(TXNRD1):c.1445T>C (p.Ile482Thr)	TXNRD1 (I382T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236057	NM_001093771.3(TXNRD1):c.1484T>C (p.Val495Ala)	TXNRD1 (V345A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212305	NM_001093771.3(TXNRD1):c.1732A>G (p.Asn578Asp)	TXNRD1 (N578D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467919	NM_001093771.3(TXNRD1):c.1751G>A (p.Arg584His)	TXNRD1 (R584H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185210	NM_001093771.3(TXNRD1):c.1870G>A (p.Val624Ile)	TXNRD1 (V436I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643253	NM_001093771.3(TXNRD1):c.1882-2321T>G	TXNRD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684681	GRCh37/hg19 12q23.3(chr12:104548295-104807478)x3	EID3, TXNRD1	Copy number gain	not provided	GUncertain significance
Select item 1808324	GRCh37/hg19 12q23.3(chr12:104576197-104795306)x3	EID3, TXNRD1	Copy number gain	not provided	GUncertain significance
Select item 1808032	GRCh37/hg19 12q23.2-23.3(chr12:103588380-105161579)x3	C12orf42, CHST11 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 685970	GRCh37/hg19 12q23.2-23.3(chr12:102414522-105845768)x1	TXNRD1, UQCC6 +23 more	Copy number loss	not provided	GUncertain significance
Select item 684952	GRCh37/hg19 12q23.3(chr12:104726227-105062113)x1	CHST11, TXNRD1	Copy number loss	not provided	GUncertain significance
Select item 563933	GRCh37/hg19 12q23.3(chr12:104539647-104873021)x3	TXNRD1, EID3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563926	GRCh37/hg19 12q23.3(chr12:104635115-104904496)x3	EID3, CHST11 +1 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 80