ARMH1[gene] - ClinVar

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

Search results

Items: 21

	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 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	ARMH1, ARTN +88 more	Copy number gain	See cases	GUncertain significance
Select item 771308	NM_001145636.2(ARMH1):c.531C>T (p.His177=)	ARMH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2638775	NM_001145636.2(ARMH1):c.565G>C (p.Gly189Arg)	ARMH1 (G189R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3129711	NM_001145636.2(ARMH1):c.574G>A (p.Ala192Thr)	ARMH1 (A192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57429	GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3	ARMH1, BEST4 +39 more	Copy number gain	See cases	GUncertain significance
Select item 3362397	NR_002753.5(RNU5F-1):n.115C>A	ARMH1, RNU5F-1	Single nucleotide variant (non-coding transcript variant +1 more)	RNU5F-1-associated neurodevelopmental disorder	GUncertain significance
Select item 782974	NM_001145636.2(ARMH1):c.748G>A (p.Val250Ile)	ARMH1 (V250I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3129712	NM_001145636.2(ARMH1):c.757G>C (p.Asp253His)	ARMH1 (D253H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129713	NM_001145636.2(ARMH1):c.912G>C (p.Lys304Asn)	ARMH1 (K304N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129708	NM_001145636.2(ARMH1):c.1157T>C (p.Ile386Thr)	ARMH1 (I386T)	Single nucleotide variant (missense variant)	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 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 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	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: 21