EID3[gene] - ClinVar

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Items: 37

	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 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 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 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: 37