ARF1[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932702, LOC129932703 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	LOC129932697, LOC129932698 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	ABCB10, ACBD3 +869 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 145605	GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4	GUK1, ARF1 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 1343801	NM_001658.4(ARF1):c.55C>T (p.Arg19Cys)	ARF1 (R19C)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 8	GLikely pathogenic
Select item 1343802	NM_001658.4(ARF1):c.103T>G (p.Tyr35Asp)	ARF1, LOC126806039 (Y35D)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 8	GPathogenic
Select item 590332	NM_001658.4(ARF1):c.103T>C (p.Tyr35His)	ARF1, LOC126806039 (Y35H)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 8	GPathogenic
Select item 690284	NM_001658.4(ARF1):c.143C>T (p.Thr48Ile)	ARF1, LOC126806039 (T48I)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 8	GLikely pathogenic
Select item 1343803	NM_001658.4(ARF1):c.151T>C (p.Phe51Leu)	ARF1, LOC126806039 (F51L)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 8	GPathogenic
Select item 1343798	NM_001658.4(ARF1):c.153C>A (p.Phe51Leu)	ARF1, LOC126806039 (F51L)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 8	GPathogenic
Select item 1013271	NM_001658.4(ARF1):c.196T>A (p.Trp66Arg)	ARF1, LOC126806039 (W66R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709793	NM_001658.4(ARF1):c.201C>G (p.Asp67Glu)	ARF1, LOC126806039 (D67E)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 8	GUncertain significance
Select item 1343290	NM_001658.4(ARF1):c.214del (p.Asp72fs)	ARF1, LOC126806039 (D72fs)	Deletion (frameshift variant)	Periventricular nodular heterotopia 8	GUncertain significance
Select item 3024252	NM_001658.4(ARF1):c.238C>T (p.His80Tyr)	ARF1, LOC126806039 (H80Y)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 8	GUncertain significance
Select item 1343804	NM_001658.4(ARF1):c.278A>G (p.Asp93Gly)	ARF1, LOC126806039 (D93G)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 8	GConflicting classifications of pathogenicity
Select item 2637647	NM_001658.4(ARF1):c.283A>C (p.Asn95His)	ARF1, LOC126806039 (N95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 637363	NM_001658.4(ARF1):c.293A>G (p.Glu98Gly)	ARF1, LOC126806039 (E98G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637362	NM_001658.4(ARF1):c.293A>C (p.Glu98Ala)	ARF1, LOC126806039 (E98A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 1343805	NM_001658.4(ARF1):c.295C>T (p.Arg99Cys)	ARF1, LOC126806039 (R99C)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 8	GLikely pathogenic
Select item 590334	NM_001658.4(ARF1):c.296G>A (p.Arg99His)	LOC126806039, ARF1 (R99H)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 8	GPathogenic/Likely pathogenic
Select item 3040638	NM_001658.4(ARF1):c.300G>A (p.Val100=)	ARF1, LOC126806039	Single nucleotide variant (synonymous variant)	ARF1-related condition	GBenign
Select item 2579992	NM_001658.4(ARF1):c.334_358del (p.Ala112fs)	ARF1, LOC126806039 (A112fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 590333	NM_001658.4(ARF1):c.379A>G (p.Lys127Glu)	ARF1, LOC126806039 (K127E)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 8	GPathogenic
Select item 1343800	NM_001658.4(ARF1):c.392C>T (p.Pro131Leu)	ARF1, LOC126806039 (P131L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1343799	NM_001658.4(ARF1):c.392C>G (p.Pro131Arg)	ARF1, LOC126806039 (P131R)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 8	GPathogenic
Select item 2570755	NM_001658.4(ARF1):c.411C>T (p.Ala137=)	ARF1, LOC126806039	Single nucleotide variant (synonymous variant)	ARF1-related condition +1 more	GLikely benign
Select item 3040346	NM_001658.4(ARF1):c.441A>G (p.Ser147=)	ARF1, LOC126806039	Single nucleotide variant (synonymous variant)	ARF1-related condition	GBenign
Select item 3039147	NM_001658.4(ARF1):c.477C>T (p.Cys159=)	ARF1, LOC126806039	Single nucleotide variant (synonymous variant)	ARF1-related condition	GLikely benign
Select item 1686459	NM_001658.4(ARF1):c.509T>A (p.Leu170Gln)	ARF1, LOC126806039 (L170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062877	GRCh37/hg19 1q42.13(chr1:228215364-229747702)x1	CCSAP, ABCB10 +21 more	Copy number loss	not specified	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527603	GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538)	ABCB10, ACTA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1412630	NC_000001.10:g.(?_228194830)_(228566496_?)dup	GUK1, IBA57 +6 more	Duplication	not provided	GUncertain significance
Select item 1328448	GRCh37/hg19 1q42.13(chr1:227782268-229506509)x1	ARF1, BTNL10 +22 more	Copy number loss	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 687403	GRCh37/hg19 1q42.13(chr1:228235107-228983659)x3	ARF1, BTNL10 +14 more	Copy number gain	not provided	GUncertain significance
Select item 686432	GRCh37/hg19 1q42.13(chr1:227772973-228326173)x3	ARF1, C1orf35 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 590949	GRCh37/hg19 1q42.13(chr1:228297613-228703236)	GUK1, H2AC25 +14 more	Copy number gain	Aortic valve disease 1	GUncertain significance
Select item 565231	GRCh37/hg19 1q42.13(chr1:227696109-229152386)x3	ARF1, GJC2 +19 more	Copy number gain	not provided	GLikely pathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442184	GRCh37/hg19 1q42.13(chr1:227774916-228335196)x3	ARF1, C1orf35 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic
Select item 253906	GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1	GJC2, TRIM17 +31 more	Copy number loss	See cases	GUncertain significance
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 68