RFX6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58441	GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1	CALHM4, CALHM5 +64 more	Copy number loss	See cases	GPathogenic
Select item 146318	GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	CALHM4, CALHM5 +91 more	Copy number loss	See cases	GLikely pathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 148351	GRCh38/hg38 6q22.1(chr6:116617428-116979654)x1	FAM162B, GPRC6A +10 more	Copy number loss	See cases	GUncertain significance
Select item 151218	GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1	ASF1A, CEP85L +68 more	Copy number loss	See cases	GLikely pathogenic
Select item 1273995	NC_000006.12:g.116877066_116877067insACCGCGGCC	LOC127407129, RFX6	Insertion	not provided	GBenign
Select item 1230597	NC_000006.12:g.116877066CCACCGCGGC[3]	LOC127407129, RFX6	Microsatellite	not provided	GBenign
Select item 1301487	NC_000006.12:g.116877081G>A	LOC127407129, RFX6	Single nucleotide variant	not provided	GLikely benign
Select item 1276314	NC_000006.12:g.116877128G>C	LOC127407129, RFX6	Single nucleotide variant	not provided	GBenign
Select item 1343065	NC_000006.12:g.116877144C>T	LOC127407129, RFX6	Single nucleotide variant	not provided	GLikely benign
Select item 1300989	NC_000006.12:g.116877156C>G	LOC127407129, RFX6	Single nucleotide variant	not provided	GLikely benign
Select item 1274125	NC_000006.12:g.116877184G>C	LOC127407129, RFX6	Single nucleotide variant	not provided	GBenign
Select item 1279165	NC_000006.12:g.116877185G>A	LOC127407129, RFX6	Single nucleotide variant	not provided	GBenign
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 3058200	NM_173560.4(RFX6):c.57A>G (p.Gln19=)	LOC127407129, RFX6	Single nucleotide variant (synonymous variant)	RFX6-related disorder	GLikely benign
Select item 917470	NM_173560.4(RFX6):c.62C>A (p.Ser21Tyr)	LOC127407129, RFX6 (S21Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 2007092	NM_173560.4(RFX6):c.102C>G (p.Gly34=)	LOC127407129, RFX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797755	NM_173560.4(RFX6):c.123G>C (p.Pro41=)	LOC127407129, RFX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419433	NM_173560.4(RFX6):c.123G>A (p.Pro41=)	LOC127407129, RFX6	Single nucleotide variant (synonymous variant)	not provided	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 917471	NM_173560.4(RFX6):c.143C>T (p.Ala48Val)	LOC127407129, RFX6 (A48V)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 more	GConflicting classifications of pathogenicity
Select item 1985791	NM_173560.4(RFX6):c.161G>A (p.Gly54Glu)	LOC127407129, RFX6 (G54E)	Single nucleotide variant (missense variant)	not provided	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 1336023	NM_173560.4(RFX6):c.165C>T (p.Gly55=)	LOC127407129, RFX6	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3068603	NM_173560.4(RFX6):c.166G>T (p.Glu56Ter)	LOC127407129, RFX6 (E56*)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young	GLikely pathogenic
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 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 1170402	NM_173560.4(RFX6):c.210G>A (p.Gly70=)	LOC127407129, RFX6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2955896	NM_173560.4(RFX6):c.213A>G (p.Ala71=)	LOC127407129, RFX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 702436	NM_173560.4(RFX6):c.223G>C (p.Glu75Gln)	LOC127407129, RFX6 (E75Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 704782	NM_173560.4(RFX6):c.223+6T>G	RFX6, LOC127407129	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1603585	NM_173560.4(RFX6):c.223+8C>G	LOC127407129, RFX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3372372	NM_173560.4(RFX6):c.224-5A>G	RFX6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 917472	NM_173560.4(RFX6):c.268G>A (p.Ala90Thr)	RFX6 (A90T)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 more	GConflicting classifications of pathogenicity
Select item 1914985	NM_173560.4(RFX6):c.270C>T (p.Ala90=)	RFX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932592	NM_173560.4(RFX6):c.271G>A (p.Asp91Asn)	RFX6 (D91N)	Single nucleotide variant (missense variant)	not provided	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 587397	NM_173560.4(RFX6):c.313T>G (p.Ser105Ala)	RFX6 (S105A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 496	NM_173560.4(RFX6):c.380+2T>C	RFX6	Single nucleotide variant (splice donor variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	GPathogenic
Select item 1235739	NM_173560.4(RFX6):c.380+276C>T	RFX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1675299	NM_173560.4(RFX6):c.381-129C>T	RFX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2985370	NM_173560.4(RFX6):c.402A>G (p.Val134=)	RFX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3358606	NM_173560.4(RFX6):c.424C>T (p.Arg142Trp)	RFX6 (R142W)	Single nucleotide variant (missense variant)	RFX6-related disorder	GUncertain significance
Select item 2414057	NM_173560.4(RFX6):c.504+8A>G	RFX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924140	NM_173560.4(RFX6):c.504+11C>T	RFX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936842	NM_173560.4(RFX6):c.504+19C>T	RFX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220861	NM_173560.4(RFX6):c.504+155A>C	RFX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1642552	NM_173560.4(RFX6):c.505-9T>C	RFX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1472419	NM_173560.4(RFX6):c.506C>T (p.Thr169Ile)	RFX6 (T169I)	Single nucleotide variant (missense variant)	not provided	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 3365045	NM_173560.4(RFX6):c.511C>T (p.Arg171Cys)	RFX6 (R171C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 500	NM_173560.4(RFX6):c.542G>A (p.Arg181Gln)	RFX6 (R181Q)	Single nucleotide variant (missense variant)	RFX6-related disorder	GLikely pathogenic
Select item 1387710	NM_173560.4(RFX6):c.554G>C (p.Arg185Thr)	RFX6 (R185T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345343	NM_173560.4(RFX6):c.566+5G>C	RFX6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1255059	NM_173560.4(RFX6):c.566+154dup	RFX6	Duplication (intron variant)	not provided	GBenign
Select item 1289321	NM_173560.4(RFX6):c.566+154del	RFX6	Deletion (intron variant)	not provided	GBenign
Select item 1287739	NM_173560.4(RFX6):c.566+220C>A	RFX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249817	NM_173560.4(RFX6):c.567-284A>C	RFX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277576	NM_173560.4(RFX6):c.567-36T>C	RFX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2986966	NM_173560.4(RFX6):c.567-15C>G	RFX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1647247	NM_173560.4(RFX6):c.567-13G>A	RFX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 500688	NM_173560.4(RFX6):c.576C>A (p.Tyr192Ter)	RFX6 (Y192*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2158040	NM_173560.4(RFX6):c.618C>T (p.Ser206=)	RFX6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2001908	NM_173560.4(RFX6):c.639G>C (p.Leu213Phe)	RFX6 (L213F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334869	NM_173560.4(RFX6):c.644G>A (p.Arg215Lys)	RFX6 (R215K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3018316	NM_173560.4(RFX6):c.644+15T>C	RFX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326628	NM_173560.4(RFX6):c.644+56T>C	RFX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183018	NM_173560.4(RFX6):c.644+73G>A	RFX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279894	NM_173560.4(RFX6):c.644+153T>C	RFX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229227	NM_173560.4(RFX6):c.645-218G>A	RFX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1924898	NM_173560.4(RFX6):c.645-17T>C	RFX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1300729	NM_173560.4(RFX6):c.672+31C>T	RFX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229928	NM_173560.4(RFX6):c.672+296C>T	RFX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1046435	NM_173560.4(RFX6):c.673-3T>C	RFX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2416710	NM_173560.4(RFX6):c.686G>A (p.Arg229His)	RFX6 (R229H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1957358	NM_173560.4(RFX6):c.696G>A (p.Ser232=)	RFX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662345	NM_173560.4(RFX6):c.738C>T (p.Ser246=)	RFX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759441	NM_173560.4(RFX6):c.762A>T (p.Gly254=)	RFX6	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2869292	NM_173560.4(RFX6):c.781-10C>T	RFX6	Single nucleotide variant (intron variant)	not provided	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

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