3315[HGNC] - ClinVar

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

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
Select item 153324	GRCh38/hg38 1p33-32.3(chr1:49807460-51412851)x3	AGBL4, C1orf185 +50 more	Copy number gain	See cases	GUncertain significance
Select item 2355993	NM_001144774.3(ELAVL4):c.68G>A (p.Gly23Glu)	ELAVL4 (G26E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515145	NM_001144774.3(ELAVL4):c.89A>G (p.Asn30Ser)	ELAVL4 (N29S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457929	NM_001144774.3(ELAVL4):c.94C>T (p.Pro32Ser)	ELAVL4 (P32S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 623430	NM_001144774.3(ELAVL4):c.148G>A (p.Val50Ile)	ELAVL4 (V50I +4 more)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 3088227	NM_001144774.3(ELAVL4):c.257G>A (p.Ser86Asn)	ELAVL4 (S122N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304434	NM_001144774.3(ELAVL4):c.287A>G (p.Asp96Gly)	ELAVL4 (D101G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477002	NM_001144774.3(ELAVL4):c.458C>T (p.Ser153Leu)	ELAVL4 (S189L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334514	NM_001144774.3(ELAVL4):c.540T>G (p.Phe180Leu)	ELAVL4 (F179L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3275115	NM_001144774.3(ELAVL4):c.572A>G (p.Lys191Arg)	ELAVL4 (K191R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088228	NM_001144774.3(ELAVL4):c.598G>A (p.Gly200Ser)	ELAVL4 (G203S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332183	NM_001144774.3(ELAVL4):c.617C>A (p.Thr206Asn)	ELAVL4 (T206N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394547	NM_001144774.3(ELAVL4):c.692G>A (p.Arg231Gln)	ELAVL4 (R230Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493614	NM_001144774.3(ELAVL4):c.791T>C (p.Ile264Thr)	ELAVL4 (I250T +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535155	NM_001144774.3(ELAVL4):c.1043G>A (p.Arg348His)	ELAVL4 (R362H +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275114	NM_001144774.3(ELAVL4):c.1082A>G (p.Asn361Ser)	ELAVL4 (N364S +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1526982	GRCh37/hg19 1p33(chr1:50621493-50654067)x1	ELAVL4	Copy number loss	not specified	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 814079	GRCh37/hg19 1p33(chr1:50448413-50605337)x1	ELAVL4, AGBL4	Copy number loss	not provided	GUncertain significance
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	TXNDC12, AGBL4 +28 more	Copy number loss	not provided	GPathogenic
Select item 689172	GRCh37/hg19 1p33-32.3(chr1:49754505-50787832)x1	AGBL4, ELAVL4	Copy number loss	not provided	GUncertain significance
Select item 686013	GRCh37/hg19 1p33-32.3(chr1:48833544-51095911)x1	AGBL4, BEND5 +4 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 523267	GRCh37/hg19 1p33-32.3(chr1:50458362-51306889)	AGBL4, DMRTA2 +2 more	Copy number loss	Global developmental delay	GUncertain significance
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

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: 29