ClinVar for Gene (Select 149466) - ClinVar - NCBI

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Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	LOC129930347, LOC129930348 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 2685798	GRCh37/hg19 1p34.2(chr1:43431433-43787962)x3	C1orf210, CFAP144 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2384926	NM_182517.3(C1orf210):c.229C>T (p.Arg77Cys)	C1orf210 (R77C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1070387	NC_000001.10:g.(?_43392692)_(43870241_?)del	C1orf210, CDC20 +10 more	Deletion	not provided	GPathogenic
Select item 689310	GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1	ARTN, ATP6V0B +24 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic