ERI3[gene] - ClinVar

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Items: 25

	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 3090191	NM_024066.3(ERI3):c.977G>A (p.Arg326Gln)	ERI3 (R248Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217237	NM_024066.3(ERI3):c.686C>T (p.Ala229Val)	ERI3 (A229V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317669	NM_024066.3(ERI3):c.481C>T (p.His161Tyr)	ERI3 (H83Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236477	NM_024066.3(ERI3):c.466G>A (p.Asp156Asn)	ERI3 (D78N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090190	NM_024066.3(ERI3):c.314A>G (p.His105Arg)	ERI3 (H105R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218069	NM_024066.3(ERI3):c.311C>T (p.Ser104Phe)	ERI3 (S104F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559662	NM_024066.3(ERI3):c.220G>T (p.Ala74Ser)	ERI3 (A74S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2524842	NM_024066.3(ERI3):c.89C>G (p.Thr30Ser)	ERI3 (T30S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3063077	GRCh37/hg19 1p34.1(chr1:44810778-45212378)x3	ARMH1, ERI3 +3 more	Copy number gain	not specified	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 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 814069	GRCh37/hg19 1p34.1(chr1:44810778-45216633)x3	TMEM53, ARMH1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814068	GRCh37/hg19 1p34.1(chr1:44424878-45207102)x1	IPO13, ERI3 +11 more	Copy number loss	not provided	GUncertain significance
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 688707	GRCh37/hg19 1p34.1(chr1:44725965-44779368)x1	ERI3	Copy number loss	not provided	GUncertain significance
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	CLSPN, COL8A2 +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: 25