ARF1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 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	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 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	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 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	ARF1, BTNL10 +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 3357634	NM_001658.4(ARF1):c.165C>A (p.Thr55=)	ARF1, LOC126806039	Single nucleotide variant (synonymous variant)	ARF1-related disorder	GLikely benign
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 3253556	NM_001658.4(ARF1):c.202G>A (p.Val68Met)	ARF1, LOC126806039 (V68M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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)	ARF1, LOC126806039 (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 disorder	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 3339656	NM_001658.4(ARF1):c.384+2T>C	ARF1, LOC126806039	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 1343800	NM_001658.4(ARF1):c.392C>T (p.Pro131Leu)	LOC126806039, ARF1 (P131L)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 8 +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)	not provided	GLikely benign
Select item 3368478	NM_001658.4(ARF1):c.412G>A (p.Glu138Lys)	ARF1, LOC126806039 (E138K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3040346	NM_001658.4(ARF1):c.441A>G (p.Ser147=)	ARF1, LOC126806039	Single nucleotide variant (synonymous variant)	ARF1-related disorder	GBenign
Select item 3357449	NM_001658.4(ARF1):c.444A>G (p.Leu148=)	ARF1, LOC126806039	Single nucleotide variant (synonymous variant)	ARF1-related disorder	GLikely benign
Select item 3039147	NM_001658.4(ARF1):c.477C>T (p.Cys159=)	ARF1, LOC126806039	Single nucleotide variant (synonymous variant)	ARF1-related disorder	GLikely benign
Select item 3242410	NM_001658.4(ARF1):c.509T>C (p.Leu170Pro)	ARF1, LOC126806039 (L170P)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 8	GUncertain significance
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 3247647	NC_000001.10:g.(?_228194830)_(228566496_?)del	ARF1, C1orf35 +6 more	Deletion	Spastic paraplegia +2 more	GPathogenic
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	COA6, COG2 +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	ARF1, C1orf35 +6 more	Duplication	Multiple mitochondrial dysfunctions syndrome 3 +1 more	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	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +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	C4BPB, CACNA1S +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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +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	AVPR1B, B3GALNT2 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 75