861[HGNC] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +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 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	ARMH1, ARTN +88 more	Copy number gain	See cases	GUncertain significance
Select item 3131865	NM_004047.5(ATP6V0B):c.26C>G (p.Ser9Cys)	ATP6V0B (S9C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2380301	NM_004047.5(ATP6V0B):c.187G>T (p.Val63Phe)	ATP6V0B (V16F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131866	NM_004047.5(ATP6V0B):c.290G>C (p.Cys97Ser)	ATP6V0B (C97S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317798	NM_004047.5(ATP6V0B):c.386G>A (p.Arg129Gln)	ATP6V0B (R129Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479537	NM_004047.5(ATP6V0B):c.567T>G (p.Phe189Leu)	ATP6V0B (F142L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638763	NM_004047.5(ATP6V0B):c.591+126T>G	ATP6V0B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3247692	NC_000001.10:g.(?_44201934)_(44482805_?)del	ARTN, ATP6V0B +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2425558	NC_000001.10:g.(?_44360035)_(44482805_?)dup	ARTN, ATP6V0B +6 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	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 1515804	NC_000001.10:g.(?_44360035)_(44482805_?)del	ARTN, ATP6V0B +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 814068	GRCh37/hg19 1p34.1(chr1:44424878-45207102)x1	IPO13, ERI3 +11 more	Copy number loss	not provided	GUncertain significance
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	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 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: 23