25744[HGNC] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 155202	GRCh38/hg38 1p34.3(chr1:38490485-39548775)x1	AKIRIN1, BMP8A +53 more	Copy number loss	See cases	GLikely benign
Select item 2334357	NM_024595.3(AKIRIN1):c.47C>T (p.Ala16Val)	AKIRIN1, LOC129930195 (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375879	NM_024595.3(AKIRIN1):c.97G>A (p.Gly33Ser)	AKIRIN1, LOC129930195 (G33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329233	NM_024595.3(AKIRIN1):c.100C>T (p.Pro34Ser)	AKIRIN1, LOC129930195 (P34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282425	NM_024595.3(AKIRIN1):c.103A>T (p.Thr35Ser)	AKIRIN1, LOC129930195 (T35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245771	NM_024595.3(AKIRIN1):c.116G>C (p.Arg39Thr)	AKIRIN1, LOC129930195 (R39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107024	NM_024595.3(AKIRIN1):c.134C>T (p.Pro45Leu)	AKIRIN1, LOC129930195 (P45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107026	NM_024595.3(AKIRIN1):c.158C>A (p.Thr53Asn)	AKIRIN1, LOC129930195 (T53N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373695	NM_024595.3(AKIRIN1):c.172C>G (p.Leu58Val)	AKIRIN1, LOC129930195 (L58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107032	NM_024595.3(AKIRIN1):c.268T>A (p.Trp90Arg)	AKIRIN1 (W90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282436	NM_024595.3(AKIRIN1):c.296A>G (p.Gln99Arg)	AKIRIN1 (Q99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372814	NM_024595.3(AKIRIN1):c.328C>T (p.His110Tyr)	AKIRIN1 (H110Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251683	NM_024595.3(AKIRIN1):c.328C>G (p.His110Asp)	AKIRIN1 (H110D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603370	NM_024595.3(AKIRIN1):c.458G>A (p.Arg153Gln)	AKIRIN1 (R153Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055615	NM_024595.3(AKIRIN1):c.496+8C>G	AKIRIN1	Single nucleotide variant (intron variant)	AKIRIN1-related disorder	GBenign
Select item 2279192	NM_024595.3(AKIRIN1):c.537T>G (p.Ile179Met)	AKIRIN1 (I179M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043682	NM_024595.3(AKIRIN1):c.568+10G>A	AKIRIN1	Single nucleotide variant (intron variant)	AKIRIN1-related disorder	GLikely benign
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 988903	GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1	CAP1, GJA9 +18 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 565086	GRCh37/hg19 1p34.3(chr1:39094582-39794108)x3	AKIRIN1, RHBDL2 +5 more	Copy number gain	not provided	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

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Items: 28