GMEB1[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
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 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 3100467	NM_001319674.2(GMEB1):c.146C>T (p.Ser49Leu)	GMEB1 (S49L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2776119	NM_001319674.2(GMEB1):c.211+38dup	GMEB1	Duplication (intron variant)	not provided	GBenign
Select item 3281701	NM_001319674.2(GMEB1):c.215C>T (p.Thr72Ile)	GMEB1 (T82I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281700	NM_001319674.2(GMEB1):c.229G>A (p.Ala77Thr)	GMEB1 (A87T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355958	NM_001319674.2(GMEB1):c.230C>T (p.Ala77Val)	GMEB1 (A87V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281669	NM_001319674.2(GMEB1):c.457G>A (p.Gly153Arg)	GMEB1 (G153R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409654	NM_001319674.2(GMEB1):c.604A>G (p.Ile202Val)	GMEB1 (I202V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100468	NM_001319674.2(GMEB1):c.640G>A (p.Glu214Lys)	GMEB1 (E214K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481779	NM_001319674.2(GMEB1):c.685A>G (p.Met229Val)	GMEB1 (M229V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100469	NM_001319674.2(GMEB1):c.949C>G (p.Gln317Glu)	GMEB1 (Q317E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522517	NM_001319674.2(GMEB1):c.1066G>C (p.Val356Leu)	GMEB1 (V356L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638580	NM_001319674.2(GMEB1):c.1206A>G (p.Pro402=)	GMEB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615185	NM_001319674.2(GMEB1):c.1234A>G (p.Ile412Val)	GMEB1 (I412V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100465	NM_001319674.2(GMEB1):c.1310G>A (p.Arg437His)	GMEB1 (R447H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638581	NM_001319674.2(GMEB1):c.1333G>C (p.Ala445Pro)	GMEB1 (A445P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3100466	NM_001319674.2(GMEB1):c.1405A>G (p.Met469Val)	GMEB1 (M469V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324527	NM_001319674.2(GMEB1):c.1492A>T (p.Ile498Phe)	GMEB1 (I508F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617479	NM_001319674.2(GMEB1):c.1501G>T (p.Val501Phe)	GMEB1 (V511F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1340314	GRCh37/hg19 1p35.3(chr1:28493687-29242679)x1	ATP5IF1, DNAJC8 +14 more	Copy number loss	not provided	GUncertain significance
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 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

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Items: 27