Related gene-specific medical variations for Gene (Select 23179) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308365	NM_203454.3(APOBEC4):c.844A>C (p.Asn282His)	APOBEC4, RGL1 (N282H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308359	NM_203454.3(APOBEC4):c.229A>G (p.Ser77Gly)	APOBEC4, RGL1 (S77G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153540	NM_001297671.3(RGL1):c.1709C>T (p.Ser570Phe)	LOC129932096, RGL1 (S570F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127978	NM_203454.3(APOBEC4):c.79G>A (p.Asp27Asn)	APOBEC4, RGL1 (D27N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127977	NM_203454.3(APOBEC4):c.680A>G (p.Tyr227Cys)	APOBEC4, RGL1 (Y227C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127976	NM_203454.3(APOBEC4):c.283G>A (p.Glu95Lys)	APOBEC4, RGL1 (E95K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127975	NM_203454.3(APOBEC4):c.173C>T (p.Thr58Ile)	APOBEC4, RGL1 (T58I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127974	NM_203454.3(APOBEC4):c.1066G>A (p.Glu356Lys)	APOBEC4, RGL1 (E356K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592625	NM_203454.3(APOBEC4):c.866C>T (p.Ala289Val)	APOBEC4, RGL1 (A289V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2539080	NM_203454.3(APOBEC4):c.92G>T (p.Cys31Phe)	APOBEC4, RGL1 (C31F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514344	NM_203454.3(APOBEC4):c.107G>T (p.Arg36Leu)	APOBEC4, RGL1 (R36L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407999	NM_203454.3(APOBEC4):c.514G>A (p.Glu172Lys)	APOBEC4, RGL1 (E172K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387334	NM_203454.3(APOBEC4):c.703G>A (p.Val235Ile)	APOBEC4, RGL1 (V235I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334007	NM_203454.3(APOBEC4):c.610G>A (p.Gly204Ser)	APOBEC4, RGL1 (G204S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264863	NM_203454.3(APOBEC4):c.523C>T (p.Arg175Trp)	APOBEC4, RGL1 (R175W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789700	NM_203454.3(APOBEC4):c.546G>A (p.Pro182=)	APOBEC4, RGL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 783958	NM_203454.3(APOBEC4):c.587C>G (p.Ser196Cys)	APOBEC4, RGL1 (S196C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 783957	NM_203454.3(APOBEC4):c.899A>G (p.Asp300Gly)	APOBEC4, RGL1 (D300G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 783956	NM_203454.3(APOBEC4):c.961A>G (p.Asn321Asp)	APOBEC4, RGL1 (N321D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 717137	NM_001297671.3(RGL1):c.1749+7A>G	LOC129932096, RGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 565204	GRCh37/hg19 1q25.3(chr1:183744212-183847029)x1	RGL1	Copy number loss	not provided	GUncertain significance

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Links from Gene

Items: 21