Related gene-specific medical variations for Gene (Select 7296) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2216886	NM_001008394.3(EID3):c.215A>T (p.Glu72Val)	EID3, TXNRD1 (E72V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 22