"Ambry Genetics"[submitter] AND "RFX6"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2269704	NM_173560.4(RFX6):c.68G>A (p.Gly23Glu)	LOC127407129, RFX6 (G23E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2390613	NM_173560.4(RFX6):c.133G>C (p.Val45Leu)	LOC127407129, RFX6 (V45L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1387387	NM_173560.4(RFX6):c.143C>G (p.Ala48Gly)	LOC127407129, RFX6 (A48G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2225758	NM_173560.4(RFX6):c.164G>A (p.Gly55Asp)	LOC127407129, RFX6 (G55D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313943	NM_173560.4(RFX6):c.178G>A (p.Gly60Arg)	LOC127407129, RFX6 (G60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235721	NM_173560.4(RFX6):c.273C>A (p.Asp91Glu)	RFX6 (D91E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332617	NM_173560.4(RFX6):c.310C>A (p.Leu104Met)	RFX6 (L104M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381618	NM_173560.4(RFX6):c.389A>G (p.Glu130Gly)	RFX6 (E130G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1650999	NM_173560.4(RFX6):c.507A>T (p.Thr169=)	RFX6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3153497	NM_173560.4(RFX6):c.782T>C (p.Val261Ala)	RFX6 (V261A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410621	NM_173560.4(RFX6):c.1123A>G (p.Ile375Val)	RFX6 (I375V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546516	NM_173560.4(RFX6):c.1196C>T (p.Ala399Val)	RFX6 (A399V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459848	NM_173560.4(RFX6):c.1216G>C (p.Val406Leu)	RFX6 (V406L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1445061	NM_173560.4(RFX6):c.1283C>A (p.Thr428Asn)	RFX6 (T428N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2397637	NM_173560.4(RFX6):c.1287T>G (p.Ile429Met)	RFX6 (I429M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153491	NM_173560.4(RFX6):c.1298C>T (p.Thr433Ile)	RFX6 (T433I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285407	NM_173560.4(RFX6):c.1328A>G (p.His443Arg)	RFX6 (H443R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307454	NM_173560.4(RFX6):c.1330G>A (p.Asp444Asn)	RFX6 (D444N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1372395	NM_173560.4(RFX6):c.1438A>G (p.Thr480Ala)	RFX6 (T480A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2539793	NM_173560.4(RFX6):c.1594A>G (p.Ile532Val)	RFX6 (I532V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153492	NM_173560.4(RFX6):c.1694C>T (p.Ala565Val)	LOC126859771, RFX6 (A565V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241874	NM_173560.4(RFX6):c.1735A>T (p.Asn579Tyr)	LOC126859771, RFX6 (N579Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557141	NM_173560.4(RFX6):c.1770G>T (p.Lys590Asn)	LOC126859771, RFX6 (K590N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621384	NM_173560.4(RFX6):c.1798C>T (p.Leu600Phe)	LOC126859771, RFX6 (L600F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 212051	NM_173560.4(RFX6):c.1829T>C (p.Leu610Pro)	LOC126859771, RFX6 (L610P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3313944	NM_173560.4(RFX6):c.1909G>A (p.Ala637Thr)	RFX6 (A637T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3153493	NM_173560.4(RFX6):c.1909G>T (p.Ala637Ser)	RFX6 (A637S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2223914	NM_173560.4(RFX6):c.2177G>A (p.Arg726Gln)	RFX6 (R726Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153494	NM_173560.4(RFX6):c.2186C>T (p.Ala729Val)	RFX6 (A729V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153495	NM_173560.4(RFX6):c.2252C>T (p.Ser751Phe)	RFX6 (S751F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 289405	NM_173560.4(RFX6):c.2464G>A (p.Val822Ile)	RFX6 (V822I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2319540	NM_173560.4(RFX6):c.2485C>T (p.Arg829Cys)	RFX6 (R829C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153496	NM_173560.4(RFX6):c.2532A>C (p.Leu844Phe)	RFX6 (L844F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 289404	NM_173560.4(RFX6):c.2543G>A (p.Gly848Asp)	RFX6 (G848D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2398006	NM_173560.4(RFX6):c.2597G>A (p.Arg866Gln)	RFX6 (R866Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601027	NM_173560.4(RFX6):c.2716A>C (p.Ser906Arg)	RFX6 (S906R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 36