ClinVar for Gene (Select 26508) - ClinVar

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Links from Gene

Items: 33

	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 2612957	NM_014571.4(HEYL):c.701G>A (p.Arg234Lys)	HEYL (R234K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600865	NM_014571.4(HEYL):c.854G>T (p.Gly285Val)	HEYL (G285V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527999	NM_014571.4(HEYL):c.581C>A (p.Ala194Asp)	HEYL (A194D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496458	NM_014571.4(HEYL):c.328C>G (p.Arg110Gly)	HEYL (R110G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489057	NM_014571.4(HEYL):c.322G>C (p.Asp108His)	HEYL (D108H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461352	NM_014571.4(HEYL):c.929C>T (p.Ala310Val)	HEYL (A310V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457824	NM_014571.4(HEYL):c.653G>A (p.Arg218Gln)	HEYL (R218Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409655	NM_014571.4(HEYL):c.488C>T (p.Ser163Leu)	HEYL (S163L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405700	NM_014571.4(HEYL):c.494C>T (p.Thr165Met)	HEYL (T165M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385500	NM_014571.4(HEYL):c.929C>G (p.Ala310Gly)	HEYL (A310G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2348838	NM_014571.4(HEYL):c.535T>C (p.Phe179Leu)	HEYL (F179L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311901	NM_014571.4(HEYL):c.217G>A (p.Ala73Thr)	HEYL (A73T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277581	NM_014571.4(HEYL):c.475G>A (p.Glu159Lys)	HEYL (E159K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247187	NM_014571.4(HEYL):c.481G>A (p.Glu161Lys)	HEYL (E161K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242902	NM_014571.4(HEYL):c.580G>A (p.Ala194Thr)	HEYL (A194T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225037	NM_014571.4(HEYL):c.594A>T (p.Arg198Ser)	HEYL (R198S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216781	NM_014571.4(HEYL):c.531G>T (p.Trp177Cys)	HEYL (W177C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211062	NM_014571.4(HEYL):c.893C>G (p.Pro298Arg)	HEYL (P298R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 988903	GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1	CAP1, GJA9 +18 more	Copy number loss	not provided	GUncertain significance
Select item 685011	GRCh37/hg19 1p34.3-34.2(chr1:40007947-40280565)x3	BMP8B, HEYL +6 more	Copy number gain	not provided	GUncertain significance
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 585233	GRCh37/hg19 1p34.3-34.2(chr1:40097132-40236108)x3	BMP8B, HEYL +4 more	Copy number gain	not provided	Gnot provided
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 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
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

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Links from Gene

Items: 33