RFX1[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 57362	GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1	ADGRL1, ADGRL1-AS1 +87 more	Copy number loss	See cases	GUncertain significance
Select item 2610271	NM_002918.5(RFX1):c.2923G>A (p.Ala975Thr)	RFX1 (A975T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536013	NM_002918.5(RFX1):c.2916C>A (p.Phe972Leu)	RFX1 (F972L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475424	NM_002918.5(RFX1):c.2899G>A (p.Asp967Asn)	RFX1 (D967N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475042	NM_002918.5(RFX1):c.2858G>A (p.Gly953Asp)	RFX1 (G953D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153461	NM_002918.5(RFX1):c.2782G>A (p.Glu928Lys)	RFX1 (E928K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290842	NM_002918.5(RFX1):c.2776G>A (p.Glu926Lys)	RFX1 (E926K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276698	NM_002918.5(RFX1):c.2751C>A (p.Asn917Lys)	RFX1 (N917K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357361	NM_002918.5(RFX1):c.2731A>C (p.Asn911His)	RFX1 (N911H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714885	NM_002918.5(RFX1):c.2724+4C>T	RFX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 208909	NM_002918.5(RFX1):c.2695G>A (p.Gly899Ser)	RFX1 (G899S)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 3153460	NM_002918.5(RFX1):c.2482G>C (p.Val828Leu)	RFX1 (V828L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240259	NM_002918.5(RFX1):c.2453T>A (p.Leu818Gln)	RFX1 (L818Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309272	NM_002918.5(RFX1):c.2428G>A (p.Val810Met)	RFX1 (V810M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153459	NM_002918.5(RFX1):c.2332C>A (p.Leu778Ile)	RFX1 (L778I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557701	NM_002918.5(RFX1):c.2282C>T (p.Ala761Val)	RFX1 (A761V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718304	NM_002918.5(RFX1):c.2244G>A (p.Leu748=)	RFX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778596	NM_002918.5(RFX1):c.2204G>A (p.Arg735Gln)	RFX1 (R735Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785612	NM_002918.5(RFX1):c.2166C>T (p.Leu722=)	RFX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726865	NM_002918.5(RFX1):c.2166C>G (p.Leu722=)	RFX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2324428	NM_002918.5(RFX1):c.2121G>T (p.Leu707Phe)	RFX1 (L707F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597851	NM_002918.5(RFX1):c.2056G>A (p.Val686Met)	RFX1 (V686M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208108	NM_002918.5(RFX1):c.2006T>G (p.Leu669Arg)	RFX1 (L669R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326622	NM_002918.5(RFX1):c.1937C>T (p.Pro646Leu)	RFX1 (P646L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344027	NM_002918.5(RFX1):c.1927C>G (p.Leu643Val)	RFX1 (L643V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312510	NM_002918.5(RFX1):c.1926C>A (p.Asn642Lys)	RFX1 (N642K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153458	NM_002918.5(RFX1):c.1925A>G (p.Asn642Ser)	RFX1 (N642S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241567	NM_002918.5(RFX1):c.1898C>T (p.Thr633Met)	RFX1 (T633M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153457	NM_002918.5(RFX1):c.1870G>A (p.Val624Met)	RFX1 (V624M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718107	NM_002918.5(RFX1):c.1852-7G>A	RFX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2520584	NM_002918.5(RFX1):c.1804C>A (p.Pro602Thr)	RFX1 (P602T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458876	NM_002918.5(RFX1):c.1801G>A (p.Gly601Arg)	RFX1 (G601R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479783	NM_002918.5(RFX1):c.1703C>T (p.Ala568Val)	RFX1 (A568V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531653	NM_002918.5(RFX1):c.1691C>T (p.Ser564Leu)	RFX1 (S564L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712861	NM_002918.5(RFX1):c.1675C>T (p.Pro559Ser)	RFX1 (P559S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3153456	NM_002918.5(RFX1):c.1657G>A (p.Val553Met)	RFX1 (V553M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272166	NM_002918.5(RFX1):c.1528C>T (p.Arg510Cys)	RFX1 (R510C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487480	NM_002918.5(RFX1):c.1262T>C (p.Leu421Pro)	RFX1 (L421P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459339	NM_002918.5(RFX1):c.1240G>A (p.Val414Met)	RFX1 (V414M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393561	NM_002918.5(RFX1):c.1219G>A (p.Gly407Ser)	RFX1 (G407S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153454	NM_002918.5(RFX1):c.1210G>A (p.Gly404Arg)	RFX1 (G404R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153453	NM_002918.5(RFX1):c.1195G>A (p.Gly399Ser)	RFX1 (G399S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322063	NM_002918.5(RFX1):c.1171G>A (p.Gly391Ser)	RFX1 (G391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349323	NM_002918.5(RFX1):c.1168G>A (p.Gly390Ser)	RFX1 (G390S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542460	NM_002918.5(RFX1):c.1165G>C (p.Gly389Arg)	RFX1 (G389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412260	NM_002918.5(RFX1):c.1165G>A (p.Gly389Ser)	RFX1 (G389S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153452	NM_002918.5(RFX1):c.1115C>T (p.Thr372Ile)	RFX1 (T372I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343850	NM_002918.5(RFX1):c.1051G>A (p.Ala351Thr)	RFX1 (A351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718305	NM_002918.5(RFX1):c.1032C>T (p.Pro344=)	RFX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2264274	NM_002918.5(RFX1):c.1030C>T (p.Pro344Ser)	RFX1 (P344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204101	NM_002918.5(RFX1):c.1003G>A (p.Ala335Thr)	RFX1 (A335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324752	NM_002918.5(RFX1):c.979G>A (p.Ala327Thr)	RFX1 (A327T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205025	NM_002918.5(RFX1):c.973C>G (p.Gln325Glu)	RFX1 (Q325E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204707	NM_002918.5(RFX1):c.955G>A (p.Glu319Lys)	RFX1 (E319K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334545	NM_002918.5(RFX1):c.944A>T (p.Tyr315Phe)	RFX1 (Y315F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 2672278	NM_002918.5(RFX1):c.839A>G (p.Gln280Arg)	RFX1 (Q280R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2338362	NM_002918.5(RFX1):c.821A>G (p.His274Arg)	RFX1 (H274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473146	NM_002918.5(RFX1):c.727G>A (p.Val243Ile)	RFX1 (V243I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785613	NM_002918.5(RFX1):c.720T>C (p.Ser240=)	RFX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2595982	NM_002918.5(RFX1):c.706G>A (p.Gly236Ser)	RFX1 (G236S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2276816	NM_002918.5(RFX1):c.592G>A (p.Gly198Ser)	RFX1 (G198S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 789113	NM_002918.5(RFX1):c.585G>A (p.Thr195=)	RFX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2376342	NM_002918.5(RFX1):c.584C>T (p.Thr195Met)	RFX1 (T195M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785614	NM_002918.5(RFX1):c.555A>G (p.Pro185=)	RFX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785615	NM_002918.5(RFX1):c.547G>A (p.Ala183Thr)	RFX1 (A183T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2543352	NM_002918.5(RFX1):c.543G>T (p.Gln181His)	RFX1 (Q181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467359	NM_002918.5(RFX1):c.539T>C (p.Val180Ala)	RFX1 (V180A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153462	NM_002918.5(RFX1):c.373G>A (p.Ala125Thr)	RFX1 (A125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516396	NM_002918.5(RFX1):c.365G>T (p.Gly122Val)	RFX1 (G122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402972	NM_002918.5(RFX1):c.169G>A (p.Glu57Lys)	RFX1 (E57K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403507	NM_002918.5(RFX1):c.137C>T (p.Ala46Val)	RFX1 (A46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153455	NM_002918.5(RFX1):c.128C>A (p.Pro43Gln)	RFX1 (P43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601799	NM_002918.5(RFX1):c.122C>T (p.Pro41Leu)	RFX1 (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic

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Items: 88