ARTN[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	ARMH1, ARTN +88 more	Copy number gain	See cases	GUncertain significance
Select item 2330213	NM_057091.3(ARTN):c.13C>G (p.Leu5Val)	ARTN (L5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343464	NM_057091.3(ARTN):c.215G>A (p.Arg72His)	ARTN (R80H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129967	NM_057091.3(ARTN):c.283C>T (p.Pro95Ser)	ARTN (P103S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457660	NM_057091.3(ARTN):c.298C>A (p.Pro100Thr)	ARTN (P100T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129968	NM_057091.3(ARTN):c.328G>A (p.Gly110Ser)	ARTN (G118S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298597	NM_057091.3(ARTN):c.346C>G (p.Arg116Gly)	ARTN (R116G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458994	NM_057091.3(ARTN):c.419G>A (p.Arg140His)	ARTN (R140H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350295	NM_057091.3(ARTN):c.429G>C (p.Glu143Asp)	ARTN (E151D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129969	NM_057091.3(ARTN):c.469G>T (p.Ala157Ser)	ARTN (A157S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129970	NM_057091.3(ARTN):c.485A>G (p.Asp162Gly)	ARTN (D162G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129971	NM_057091.3(ARTN):c.560G>A (p.Cys187Tyr)	ARTN, LOC129930396 (C187Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129972	NM_057091.3(ARTN):c.586G>A (p.Val196Ile)	ARTN, LOC129930396 (V196I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129973	NM_057091.3(ARTN):c.602T>A (p.Val201Asp)	ARTN, LOC129930396 (V209D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478398	NM_057091.3(ARTN):c.611C>T (p.Thr204Ile)	ARTN, LOC129930396 (T204I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129974	NM_057091.3(ARTN):c.617G>A (p.Arg206Lys)	ARTN, LOC129930396 (R206K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425558	NC_000001.10:g.(?_44360035)_(44482805_?)dup	ARTN, ATP6V0B +6 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1808593	GRCh37/hg19 1p34.1(chr1:44115963-44434808)x3	ARTN, IPO13 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1515804	NC_000001.10:g.(?_44360035)_(44482805_?)del	ARTN, ATP6V0B +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 689310	GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1	ARTN, ATP6V0B +24 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	GJB3, PIK3R3 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic

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Items: 31