15531[HGNC] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
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
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	LOC129930347, LOC129930348 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 2284999	NM_006824.3(EBNA1BP2):c.877C>T (p.Pro293Ser)	EBNA1BP2 (P293S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789258	NM_006824.3(EBNA1BP2):c.869A>T (p.Asn290Ile)	EBNA1BP2 (N345I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2305497	NM_006824.3(EBNA1BP2):c.619T>C (p.Ser207Pro)	EBNA1BP2 (S207P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365485	NM_006824.3(EBNA1BP2):c.545C>T (p.Thr182Met)	EBNA1BP2 (T182M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086880	NM_006824.3(EBNA1BP2):c.452G>A (p.Arg151Gln)	EBNA1BP2 (R151Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280043	NM_006824.3(EBNA1BP2):c.421G>A (p.Ala141Thr)	EBNA1BP2 (A141T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615594	NM_006824.3(EBNA1BP2):c.375G>T (p.Gln125His)	EBNA1BP2 (Q180H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217942	NM_006824.3(EBNA1BP2):c.308A>C (p.Gln103Pro)	EBNA1BP2 (Q158P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777906	NM_006824.3(EBNA1BP2):c.227C>G (p.Pro76Arg)	EBNA1BP2 (P131R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2549498	NM_006824.3(EBNA1BP2):c.127C>A (p.Pro43Thr)	EBNA1BP2 (P98T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623341	NM_006824.3(EBNA1BP2):c.73G>C (p.Asp25His)	EBNA1BP2 (D80H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315932	NM_006824.3(EBNA1BP2):c.16C>G (p.Leu6Val)	EBNA1BP2 (L61V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248000	NM_001378189.1(CFAP57):c.-56T>C	CFAP57, EBNA1BP2 (Y2C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685798	GRCh37/hg19 1p34.2(chr1:43431433-43787962)x3	C1orf210, CFAP144 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2425602	NC_000001.10:g.(?_43392712)_(43675755_?)dup	CFAP144, CFAP57 +2 more	Duplication	GLUT1 deficiency syndrome 1, autosomal recessive	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 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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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

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Items: 27