17562[HGNC] - ClinVar - NCBI

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Items: 17

	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 149964	GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4	ADPRS, AGO3 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 3121300	NM_032881.3(LSM10):c.346G>C (p.Glu116Gln)	LSM10 (E116Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554549	NM_032881.3(LSM10):c.337G>C (p.Gly113Arg)	LSM10 (G113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349454	NM_032881.3(LSM10):c.262G>A (p.Val88Met)	LSM10 (V88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292159	NM_032881.3(LSM10):c.248A>G (p.His83Arg)	LSM10 (H83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329485	NM_032881.3(LSM10):c.189G>T (p.Trp63Cys)	LSM10 (W63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 974696	NM_032881.3(LSM10):c.112G>A (p.Val38Met)	LSM10 (V38M)	Single nucleotide variant (missense variant)	Fraser syndrome 3	GUncertain significance
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	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 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
Select item 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic