LOC127407129[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	LOC129389591, LOC129389592 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC129997076, LOC129997077 +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	LOC129997064, LOC129997065 +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 condition	GLikely benign
Select item 917470	NM_173560.4(RFX6):c.62C>A (p.Ser21Tyr)	LOC127407129, RFX6 (S21Y)	Single nucleotide variant (missense variant)	Monogenic diabetes +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 condition	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	GUncertain significance
Select item 917471	NM_173560.4(RFX6):c.143C>T (p.Ala48Val)	LOC127407129, RFX6 (A48V)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign
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 +2 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 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)	RFX6, LOC127407129 (E75Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 704782	NM_173560.4(RFX6):c.223+6T>G	LOC127407129, RFX6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1603585	NM_173560.4(RFX6):c.223+8C>G	RFX6, LOC127407129	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 41