FRA10AC1[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 2662776	NM_145246.5(FRA10AC1):c.772A>C (p.Lys258Gln)	FRA10AC1 (K258Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2248902	NM_145246.5(FRA10AC1):c.679A>G (p.Ile227Val)	FRA10AC1 (I227V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1722514	NM_145246.5(FRA10AC1):c.561_562insTTTA (p.Ser188fs)	FRA10AC1 (S188fs)	Insertion (frameshift variant +1 more)	Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	GPathogenic
Select item 2663156	NM_145246.5(FRA10AC1):c.560A>G (p.Lys187Arg)	FRA10AC1 (K187R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1722515	NM_145246.5(FRA10AC1):c.491AAG[1] (p.Glu165del)	FRA10AC1 (E165del)	Microsatellite (inframe_deletion +1 more)	Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	GPathogenic
Select item 1722518	NM_145246.5(FRA10AC1):c.481C>T (p.Arg161Ter)	FRA10AC1 (R161*)	Single nucleotide variant (nonsense +1 more)	See cases	GPathogenic
Select item 3064736	NM_145246.5(FRA10AC1):c.380+1G>A	FRA10AC1	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	GLikely pathogenic
Select item 1722516	NM_145246.5(FRA10AC1):c.328C>T (p.Arg110Ter)	FRA10AC1 (R110*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	GPathogenic
Select item 2361347	NM_145246.5(FRA10AC1):c.290G>A (p.Arg97His)	FRA10AC1 (R97H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207080	NM_145246.5(FRA10AC1):c.283T>G (p.Phe95Val)	FRA10AC1 (F95V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345985	NM_145246.5(FRA10AC1):c.232A>G (p.Thr78Ala)	FRA10AC1 (T78A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1722517	NC_000010.11:g.93695674_93708392delinsTTAGTACAC	FRA10A, FRA10AC1 +1 more	Indel	Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	GPathogenic
Select item 2478198	NM_145246.5(FRA10AC1):c.211A>G (p.Met71Val)	FRA10AC1 (M71V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2430334	NM_145246.5(FRA10AC1):c.174-2A>C	FRA10AC1	Single nucleotide variant (splice acceptor variant)	See cases	GUncertain significance
Select item 2504404	NM_145246.5(FRA10AC1):c.103C>T (p.Gln35Ter)	FRA10AC1 (Q35*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1722513	NM_001347714.2(FRA10AC1):c.-269_77+32del	FRA10A, FRA10AC1 +1 more	Deletion (splice acceptor variant +2 more)	Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	GPathogenic
Select item 2682558	NM_145246.5(FRA10AC1):c.51_52del (p.Cys17fs)	FRA10AC1 (C17fs)	Microsatellite (frameshift variant +1 more)	Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	GPathogenic
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
Select item 833253	NC_000010.11:g.(?_93161309)_(93797823_?)del	CEP55, FFAR4 +5 more	Deletion	Autosomal dominant epilepsy with auditory features +1 more	GPathogenic
Select item 830758	NC_000010.11:g.(?_93655760)_(93700106_?)del	FRA10AC1, PDE6C	Deletion	not provided	GLikely pathogenic
Select item 815370	GRCh37/hg19 10q23.33(chr10:95234481-95431148)x1	CEP55, RBP4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 689036	GRCh37/hg19 10q23.33(chr10:95421794-95473856)x1	FRA10AC1, PDE6C	Copy number loss	not provided	GUncertain significance
Select item 625558	GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175)	ACSM6, CEP55 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563710	GRCh37/hg19 10q23.33(chr10:95301338-95475336)x1	FFAR4, FRA10AC1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 443180	GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1	BTAF1, CEP55 +20 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Items: 45