HORMAD2[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 59074	GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	AP1B1, ASCC2 +89 more	Copy number loss	See cases	GPathogenic
Select item 3106534	NM_152510.4(HORMAD2):c.52G>A (p.Glu18Lys)	HORMAD2 (E18K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788932	NM_152510.4(HORMAD2):c.58G>C (p.Val20Leu)	HORMAD2 (V20L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2358854	NM_152510.4(HORMAD2):c.118G>T (p.Ala40Ser)	HORMAD2 (A40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106533	NM_152510.4(HORMAD2):c.152G>T (p.Gly51Val)	HORMAD2 (G51V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106536	NM_152510.4(HORMAD2):c.560A>G (p.Tyr187Cys)	HORMAD2 (Y99C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366369	NM_152510.4(HORMAD2):c.613A>T (p.Asn205Tyr)	HORMAD2 (N205Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533550	NM_152510.4(HORMAD2):c.625C>G (p.Leu209Val)	HORMAD2 (L121V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106537	NM_152510.4(HORMAD2):c.727G>T (p.Asp243Tyr)	HORMAD2 (D155Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106538	NM_152510.4(HORMAD2):c.748C>T (p.Arg250Trp)	HORMAD2 (R250W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106539	NM_152510.4(HORMAD2):c.758G>A (p.Ser253Asn)	HORMAD2 (S253N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284617	NM_152510.4(HORMAD2):c.772G>A (p.Ala258Thr)	HORMAD2 (A258T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336633	NM_152510.4(HORMAD2):c.781G>A (p.Gly261Ser)	HORMAD2 (G261S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350309	NM_152510.4(HORMAD2):c.841T>C (p.Cys281Arg)	HORMAD2 (C193R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248312	NM_152510.4(HORMAD2):c.892C>T (p.Pro298Ser)	HORMAD2 (P210S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543297	NM_152510.4(HORMAD2):c.913A>G (p.Asn305Asp)	HORMAD2 (N217D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535118	NM_152510.4(HORMAD2):c.920A>G (p.Lys307Arg)	HORMAD2 (K219R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808302	GRCh37/hg19 22q12.2(chr22:30451190-30604975)x1	HORMAD2	Copy number loss	not provided	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +71 more	Duplication	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 38