26115[HGNC] - ClinVar

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Search results

Items: 59

	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 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	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 1249427	NM_001346953.2(EXO5):c.-30-310G>A	EXO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290697	NM_001346953.2(EXO5):c.-30-243T>A	EXO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181531	NM_001346953.2(EXO5):c.-30-242C>A	EXO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3091009	NM_001346953.2(EXO5):c.50T>C (p.Phe17Ser)	EXO5 (F17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091011	NM_001346953.2(EXO5):c.65A>G (p.Asp22Gly)	EXO5 (D22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727068	NM_001346953.2(EXO5):c.93dup (p.Glu32fs)	EXO5 (E32fs)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 3091005	NM_001346953.2(EXO5):c.162T>A (p.Asp54Glu)	EXO5 (D54E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473285	NM_001346953.2(EXO5):c.163G>A (p.Asp55Asn)	EXO5 (D55N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091006	NM_001346953.2(EXO5):c.226T>C (p.Phe76Leu)	EXO5 (F76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091007	NM_001346953.2(EXO5):c.228C>G (p.Phe76Leu)	EXO5 (F76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091008	NM_001346953.2(EXO5):c.332C>G (p.Ala111Gly)	EXO5 (A111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1249466	NM_001346953.2(EXO5):c.343G>A (p.Asp115Asn)	EXO5 (D115N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2478494	NM_001346953.2(EXO5):c.376C>G (p.Leu126Val)	EXO5 (L126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221298	NM_001346953.2(EXO5):c.403C>T (p.Pro135Ser)	EXO5 (P135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1181125	NM_001346953.2(EXO5):c.452T>C (p.Leu151Pro)	EXO5 (L151P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2072998	NM_001346953.2(EXO5):c.479A>G (p.Glu160Gly)	EXO5 (E160G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1638525	NM_001346953.2(EXO5):c.499C>T (p.Pro167Ser)	EXO5 (P167S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1252459	NM_001346953.2(EXO5):c.515G>T (p.Gly172Val)	EXO5 (G172V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3276747	NM_001346953.2(EXO5):c.557A>G (p.Tyr186Cys)	EXO5 (Y186C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288214	NM_001346953.2(EXO5):c.560C>T (p.Thr187Ile)	EXO5 (T187I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091010	NM_001346953.2(EXO5):c.599G>A (p.Arg200His)	EXO5 (R200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222625	NM_001346953.2(EXO5):c.604C>T (p.Arg202Cys)	EXO5 (R202C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781774	NM_001346953.2(EXO5):c.610A>G (p.Met204Val)	EXO5 (M204V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2178573	NM_001346953.2(EXO5):c.640G>A (p.Asp214Asn)	EXO5 (D214N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2289843	NM_001346953.2(EXO5):c.689A>G (p.Gln230Arg)	EXO5 (Q230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091012	NM_001346953.2(EXO5):c.697G>C (p.Val233Leu)	EXO5 (V233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091013	NM_001346953.2(EXO5):c.701C>T (p.Thr234Ile)	EXO5 (T234I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556722	NM_001346953.2(EXO5):c.784G>T (p.Gly262Cys)	EXO5 (G262C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1668159	NM_001346953.2(EXO5):c.794_795del (p.Val265fs)	EXO5 (V265fs)	Microsatellite (frameshift variant)	not provided	GBenign
Select item 3091014	NM_001346953.2(EXO5):c.811C>T (p.Leu271Phe)	EXO5 (L271F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598918	NM_001346953.2(EXO5):c.835C>G (p.Leu279Val)	EXO5 (L279V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315756	NM_001346953.2(EXO5):c.886C>G (p.His296Asp)	EXO5 (H296D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091015	NM_001346953.2(EXO5):c.913A>G (p.Thr305Ala)	EXO5 (T305A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1926249	NM_001346953.2(EXO5):c.949G>A (p.Ala317Thr)	EXO5 (A317T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2335034	NM_001346953.2(EXO5):c.983G>A (p.Gly328Asp)	EXO5 (G328D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1238708	NM_001346953.2(EXO5):c.1014G>A (p.Glu338=)	EXO5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2207324	NM_001346953.2(EXO5):c.1016A>C (p.Glu339Ala)	EXO5 (E339A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1580515	NM_001346953.2(EXO5):c.1029_1030insG (p.Arg344fs)	EXO5 (R344fs)	Insertion (frameshift variant)	not provided	GBenign
Select item 2393306	NM_001346953.2(EXO5):c.1031G>A (p.Arg344Gln)	EXO5 (R344Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1275046	NM_001346953.2(EXO5):c.1035G>A (p.Thr345=)	EXO5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3091004	NM_001346953.2(EXO5):c.1043A>C (p.Tyr348Ser)	EXO5 (Y348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2788255	NM_001346953.2(EXO5):c.1045G>A (p.Ala349Thr)	EXO5 (A349T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1560587	NM_001346953.2(EXO5):c.1098G>A (p.Ala366=)	EXO5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3247914	NC_000001.10:g.(?_40782775)_(40981338_?)dup	COL9A2, EXO5 +3 more	Duplication	not provided	GUncertain significance
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, GUCA2A +20 more	Copy number loss	not provided	GUncertain significance
Select item 1808029	GRCh37/hg19 1p34.2(chr1:40758393-41009559)x1	COL9A2, EXO5 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
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 442493	GRCh37/hg19 1p34.2(chr1:40962859-41375802)x1	CITED4, EXO5 +5 more	Copy number loss	See cases	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 254027	GRCh37/hg19 1p34.2(chr1:40944820-42213560)x1	ZFP69, EDN2 +12 more	Copy number loss	See cases	GUncertain significance

ClinVar

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Items: 59