ClinVar for Gene (Select 126859771) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019069	NM_173560.4(RFX6):c.1885+19C>T	LOC126859771, RFX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2982679	NM_173560.4(RFX6):c.1885+18G>T	LOC126859771, RFX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875771	NM_173560.4(RFX6):c.1754C>T (p.Ser585Phe)	LOC126859771, RFX6 (S585F)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 2443642	NM_173560.4(RFX6):c.1782C>G (p.His594Gln)	LOC126859771, RFX6 (H594Q)	Single nucleotide variant (missense variant)	not provided	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 2200329	NM_173560.4(RFX6):c.1877C>T (p.Pro626Leu)	LOC126859771, RFX6 (P626L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172936	NM_173560.4(RFX6):c.1761C>T (p.Asp587=)	LOC126859771, RFX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2139703	NM_173560.4(RFX6):c.1790C>A (p.Thr597Lys)	LOC126859771, RFX6 (T597K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005079	NM_173560.4(RFX6):c.1731C>A (p.Asn577Lys)	LOC126859771, RFX6 (N577K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994595	NM_173560.4(RFX6):c.1759G>A (p.Asp587Asn)	LOC126859771, RFX6 (D587N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1700425	NM_173560.4(RFX6):c.1745G>A (p.Ser582Asn)	LOC126859771, RFX6 (S582N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1643850	NM_173560.4(RFX6):c.1683G>A (p.Ala561=)	LOC126859771, RFX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614188	NM_173560.4(RFX6):c.1758C>T (p.Ser586=)	LOC126859771, RFX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1387018	NM_173560.4(RFX6):c.1783G>A (p.Val595Met)	LOC126859771, RFX6 (V595M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358378	NM_173560.4(RFX6):c.1732C>T (p.Arg578Cys)	LOC126859771, RFX6 (R578C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1287597	NM_173560.4(RFX6):c.1885+277A>G	LOC126859771, RFX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280792	NM_173560.4(RFX6):c.1885+242_1885+245del	LOC126859771, RFX6	Deletion (intron variant)	not provided	GBenign
Select item 1266404	NM_173560.4(RFX6):c.1679-187A>C	LOC126859771, RFX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 739061	NM_173560.4(RFX6):c.1679-10C>T	LOC126859771, RFX6	Single nucleotide variant (intron variant)	RFX6-related condition +1 more	GLikely benign
Select item 436531	NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro)	LOC126859771, RFX6 (R578P)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 212051	NM_173560.4(RFX6):c.1829T>C (p.Leu610Pro)	LOC126859771, RFX6 (L610P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 151218	GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1	ASF1A, CEP85L +68 more	Copy number loss	See cases	GLikely pathogenic
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 148351	GRCh38/hg38 6q22.1(chr6:116617428-116979654)x1	FAM162B, GPRC6A +10 more	Copy number loss	See cases	GUncertain significance
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 130152	NM_173560.4(RFX6):c.1782C>T (p.His594=)	LOC126859771, RFX6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 58441	GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1	CALHM4, CALHM5 +64 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

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Links from Gene

Items: 38