29971[HGNC] - ClinVar

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Items: 30

	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 2609406	NM_145047.5(OSCP1):c.1010T>C (p.Ile337Thr)	OSCP1 (I337T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207142	NM_145047.5(OSCP1):c.944C>T (p.Thr315Ile)	OSCP1 (T315I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207141	NM_145047.5(OSCP1):c.820G>C (p.Glu274Gln)	OSCP1 (E274Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288493	NM_145047.5(OSCP1):c.756C>G (p.Ser252Arg)	OSCP1 (S252R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207140	NM_145047.5(OSCP1):c.737T>G (p.Leu246Arg)	OSCP1 (L246R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522942	NM_145047.5(OSCP1):c.725G>A (p.Arg242Gln)	OSCP1 (R252Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334536	NM_145047.5(OSCP1):c.614T>A (p.Leu205His)	OSCP1 (L205H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266104	NM_145047.5(OSCP1):c.545A>G (p.Gln182Arg)	OSCP1 (Q182R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340912	NM_145047.5(OSCP1):c.524T>C (p.Met175Thr)	OSCP1 (M185T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638672	NM_145047.5(OSCP1):c.516+3473G>A	OSCP1 (W221*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2617627	NM_145047.5(OSCP1):c.490A>T (p.Ile164Phe)	OSCP1 (I164F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220747	NM_145047.5(OSCP1):c.421C>T (p.Arg141Trp)	OSCP1 (R151W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334682	NM_145047.5(OSCP1):c.385T>C (p.Ser129Pro)	OSCP1 (S139P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487662	NM_145047.5(OSCP1):c.260T>C (p.Met87Thr)	OSCP1 (M87T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308355	NM_145047.5(OSCP1):c.212A>G (p.Tyr71Cys)	OSCP1 (Y81C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207139	NM_145047.5(OSCP1):c.185A>T (p.Tyr62Phe)	OSCP1 (Y62F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493872	NM_145047.5(OSCP1):c.173C>G (p.Pro58Arg)	OSCP1 (P68R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606828	NM_145047.5(OSCP1):c.124A>G (p.Ile42Val)	OSCP1 (I42V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254362	NM_145047.5(OSCP1):c.25C>T (p.Leu9Phe)	OSCP1 (L9F)	Single nucleotide variant (missense variant)	not specified	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

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Items: 30