"GeneDx"[submitter] AND "RFX3"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59063	GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1	AK3, CDC37L1 +120 more	Copy number loss	See cases	GPathogenic
Select item 3375968	NM_001282116.2(RFX3):c.2102dup (p.Ala702fs)	RFX3 (A702fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3370959	NM_001282116.2(RFX3):c.2099G>T (p.Ser700Ile)	RFX3 (S700I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369917	NM_001282116.2(RFX3):c.1922G>A (p.Arg641His)	RFX3 (R641H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369884	NM_001282116.2(RFX3):c.1879C>G (p.Arg627Gly)	RFX3 (R627G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371741	NM_001282116.2(RFX3):c.1832A>G (p.Asp611Gly)	RFX3 (D611G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507117	NM_001282116.2(RFX3):c.1819A>G (p.Met607Val)	RFX3 (M607V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503190	NM_001282116.2(RFX3):c.1675A>T (p.Thr559Ser)	RFX3 (T559S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712774	NM_001282116.2(RFX3):c.1646T>A (p.Val549Asp)	RFX3 (V549D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706285	NM_001282116.2(RFX3):c.1546A>G (p.Thr516Ala)	RFX3 (T516A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699538	NM_001282116.2(RFX3):c.1502C>T (p.Ser501Leu)	RFX3 (S501L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373766	NM_001282116.2(RFX3):c.1420A>G (p.Met474Val)	RFX3 (M474V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370056	NM_001282116.2(RFX3):c.1153C>T (p.Arg385Cys)	RFX3 (R385C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310956	NM_001282116.2(RFX3):c.1086+1G>A	RFX3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3364155	NM_001282116.2(RFX3):c.1024C>A (p.Pro342Thr)	RFX3 (P342T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343760	NM_001282116.2(RFX3):c.998T>G (p.Phe333Cys)	RFX3 (F333C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367892	NM_001282116.2(RFX3):c.974-8G>A	RFX3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1311522	NM_001282116.2(RFX3):c.937_938del (p.Val313fs)	RFX3 (V313fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 59055	GRCh38/hg38 9p24.2(chr9:3288211-3545454)x1	LOC110121072, LOC124210609 +6 more	Copy number loss	See cases	GUncertain significance
Select item 3343540	NM_001282116.2(RFX3):c.523C>T (p.His175Tyr)	RFX3 (H175Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367869	NM_001282116.2(RFX3):c.472A>G (p.Thr158Ala)	RFX3 (T158A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363644	NM_001282116.2(RFX3):c.446C>T (p.Thr149Ile)	RFX3 (T149I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373427	NM_001282116.2(RFX3):c.376_378delinsTAC (p.Gln126Tyr)	RFX3 (Q126Y)	Indel (missense variant)	not provided	GUncertain significance
Select item 3377938	NM_001282116.2(RFX3):c.209G>A (p.Gly70Glu)	RFX3 (G70E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371003	NM_134428.2(RFX3):c.124_132del	RFX3	Microsatellite	not provided	GUncertain significance
Select item 1706380	NM_001282116.2(RFX3):c.-9+35393A>G	RFX3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 253670	GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3	ACER2, ADAMTSL1 +59 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253580	GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1	AK3, BRD10 +40 more	Copy number loss	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 3359699	NM_001282116.2(RFX3):c.709C>T (p.Arg237Ter)	RFX3 (R237*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Items: 33