"PreventionGenetics, part of Exact Sciences"[submitter] AND "RFX6"[gen - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058200	NM_173560.4(RFX6):c.57A>G (p.Gln19=)	LOC127407129, RFX6	Single nucleotide variant (synonymous variant)	RFX6-related disorder	GLikely benign
Select item 2637223	NM_173560.4(RFX6):c.73C>G (p.Gln25Glu)	LOC127407129, RFX6 (Q25E)	Single nucleotide variant (missense variant)	RFX6-related disorder	GUncertain significance
Select item 1336023	NM_173560.4(RFX6):c.165C>T (p.Gly55=)	LOC127407129, RFX6	Single nucleotide variant (synonymous variant)	RFX6-related disorder +2 more	GBenign
Select item 702436	NM_173560.4(RFX6):c.223G>C (p.Glu75Gln)	RFX6, LOC127407129 (E75Q)	Single nucleotide variant (missense variant)	RFX6-related disorder +1 more	GLikely benign
Select item 704782	NM_173560.4(RFX6):c.223+6T>G	LOC127407129, RFX6	Single nucleotide variant (intron variant)	RFX6-related disorder +1 more	GBenign
Select item 2381618	NM_173560.4(RFX6):c.389A>G (p.Glu130Gly)	RFX6 (E130G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1650999	NM_173560.4(RFX6):c.507A>T (p.Thr169=)	RFX6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 500	NM_173560.4(RFX6):c.542G>A (p.Arg181Gln)	RFX6 (R181Q)	Single nucleotide variant (missense variant)	RFX6-related disorder	GLikely pathogenic
Select item 3052943	NM_173560.4(RFX6):c.627T>C (p.Ser209=)	RFX6	Single nucleotide variant (synonymous variant)	RFX6-related disorder	GLikely benign
Select item 2631488	NM_173560.4(RFX6):c.781-1G>A	RFX6	Single nucleotide variant (splice acceptor variant)	RFX6-related disorder	GLikely pathogenic
Select item 702079	NM_173560.4(RFX6):c.985G>A (p.Val329Ile)	RFX6 (V329I)	Single nucleotide variant (missense variant)	RFX6-related disorder +3 more	GBenign/Likely benign
Select item 2410621	NM_173560.4(RFX6):c.1123A>G (p.Ile375Val)	RFX6 (I375V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2416576	NM_173560.4(RFX6):c.1183-5T>C	RFX6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2635430	NM_173560.4(RFX6):c.1278_1281del (p.Leu427fs)	RFX6 (L427fs)	Deletion (frameshift variant)	RFX6-related disorder	GLikely pathogenic
Select item 3052277	NM_173560.4(RFX6):c.1328-12_1328-10del	RFX6	Deletion (intron variant)	RFX6-related disorder	GLikely benign
Select item 3032504	NM_173560.4(RFX6):c.1568T>A (p.Leu523Ter)	RFX6 (L523*)	Single nucleotide variant (nonsense)	RFX6-related disorder	GLikely pathogenic
Select item 2054390	NM_173560.4(RFX6):c.1584C>T (p.Leu528=)	RFX6	Single nucleotide variant (synonymous variant)	RFX6-related disorder +1 more	GLikely benign
Select item 739061	NM_173560.4(RFX6):c.1679-10C>T	LOC126859771, RFX6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 436531	NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro)	LOC126859771, RFX6 (R578P)	Single nucleotide variant (missense variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome +4 more	GConflicting classifications of pathogenicity
Select item 212052	NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys)	RFX6 (T680K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 130155	NM_173560.4(RFX6):c.2369G>A (p.Gly790Glu)	RFX6 (G790E)	Single nucleotide variant (missense variant)	RFX6-related disorder +2 more	GLikely benign
Select item 1224114	NM_173560.4(RFX6):c.2398+8T>C	RFX6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1337456	NM_173560.4(RFX6):c.2438G>C (p.Arg813Thr)	RFX6 (R813T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 393396	NM_173560.4(RFX6):c.2561C>T (p.Ser854Leu)	RFX6 (S854L)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GConflicting classifications of pathogenicity

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Items: 24