ClinVar for MedGen (Select 411637) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3592996	NM_173560.4(RFX6):c.2009C>T (p.Pro670Leu)	RFX6 (P670L)	Single nucleotide variant (missense variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	GUncertain significance
Select item 3384097	NM_173560.4(RFX6):c.1153C>T (p.Arg385Ter)	RFX6 (R385*)	Single nucleotide variant (nonsense)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	GLikely pathogenic
Select item 2921213	NM_173560.4(RFX6):c.335A>G (p.Gln112Arg)	RFX6 (Q112R)	Single nucleotide variant (missense variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	GUncertain significance
Select item 2502260	NM_173560.4(RFX6):c.1709C>T (p.Pro570Leu)	LOC126859771, RFX6 (P570L)	Single nucleotide variant (missense variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	GUncertain significance
Select item 2502230	NM_173560.4(RFX6):c.208G>A (p.Gly70Arg)	LOC127407129, RFX6 (G70R)	Single nucleotide variant (missense variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	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 1329850	NM_173560.4(RFX6):c.2398+17G>T	RFX6	Single nucleotide variant (intron variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome +1 more	GBenign/Likely benign
Select item 1327955	NM_173560.4(RFX6):c.1679-34dup	LOC126859771, RFX6	Duplication (intron variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	GBenign
Select item 1031718	NM_173560.4(RFX6):c.695C>T (p.Ser232Leu)	RFX6 (S232L)	Single nucleotide variant (missense variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome +1 more	GUncertain significance
Select item 1031716	NM_173560.4(RFX6):c.2290dup (p.Gln764fs)	RFX6 (Q764fs)	Duplication (frameshift variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	GLikely pathogenic
Select item 1031267	NM_173560.4(RFX6):c.1130G>A (p.Arg377Gln)	RFX6 (R377Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 917476	NM_173560.4(RFX6):c.2399G>C (p.Gly800Ala)	RFX6 (G800A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 702079	NM_173560.4(RFX6):c.985G>A (p.Val329Ile)	RFX6 (V329I)	Single nucleotide variant (missense variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome +2 more	GBenign/Likely benign
Select item 587396	NM_173560.4(RFX6):c.1316_1319del (p.Ile439fs)	RFX6 (I439fs)	Deletion (frameshift variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	GPathogenic
Select item 587395	NM_173560.4(RFX6):c.1154G>A (p.Arg385Gln)	RFX6 (R385Q)	Single nucleotide variant (missense variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	GLikely pathogenic
Select item 436531	NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro)	LOC126859771, RFX6 (R578P)	Single nucleotide variant (missense variant)	not specified +3 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 +2 more	GConflicting classifications of pathogenicity
Select item 223241	NM_173560.4(RFX6):c.2596C>T (p.Arg866Ter)	RFX6 (R866*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 223240	NM_173560.4(RFX6):c.2176C>T (p.Arg726Ter)	RFX6 (R726*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 130157	NM_173560.4(RFX6):c.541C>T (p.Arg181Trp)	RFX6 (R181W)	Single nucleotide variant (missense variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	GLikely pathogenic
Select item 130156	NM_173560.4(RFX6):c.50C>A (p.Ala17Glu)	LOC127407129, RFX6 (A17E)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GBenign
Select item 130154	NM_173560.4(RFX6):c.2166C>T (p.Thr722=)	RFX6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 130148	NM_173560.4(RFX6):c.1327C>T (p.His443Tyr)	RFX6 (H443Y)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 501	NM_173560.4(RFX6):c.779_780+12del	RFX6	Deletion (splice donor variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	GPathogenic
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 499	NM_173560.4(RFX6):c.649T>C (p.Ser217Pro)	RFX6 (S217P)	Single nucleotide variant (missense variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	GLikely pathogenic
Select item 498	NM_173560.4(RFX6):c.672+2T>G	RFX6	Single nucleotide variant (splice donor variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	GPathogenic
Select item 497	NM_173560.4(RFX6):c.224-12A>G	RFX6	Single nucleotide variant (intron variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome +1 more	GPathogenic
Select item 496	NM_173560.4(RFX6):c.380+2T>C	RFX6	Single nucleotide variant (splice donor variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	GPathogenic

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Items: 29