HARBI1[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 152826	GRCh38/hg38 11p11.2(chr11:46420955-46728372)x3	AMBRA1, ARHGAP1 +13 more	Copy number gain	See cases	GUncertain significance
Select item 560080	Single allele	AMBRA1, ARHGAP1 +8 more	Deletion	not provided	GUncertain significance
Select item 3283483	NM_173811.4(HARBI1):c.1032G>A (p.Met344Ile)	HARBI1 (M344I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538248	NM_173811.4(HARBI1):c.1026G>T (p.Glu342Asp)	HARBI1 (E342D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282669	NM_173811.4(HARBI1):c.1013G>A (p.Arg338His)	HARBI1 (R338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242421	NM_173811.4(HARBI1):c.1003G>A (p.Glu335Lys)	HARBI1 (E335K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282882	NM_173811.4(HARBI1):c.989A>G (p.Glu330Gly)	HARBI1 (E330G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104241	NM_173811.4(HARBI1):c.982C>T (p.His328Tyr)	HARBI1 (H328Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283485	NM_173811.4(HARBI1):c.952A>G (p.Met318Val)	HARBI1 (M318V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372779	NM_173811.4(HARBI1):c.815G>A (p.Arg272His)	HARBI1 (R272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351968	NM_173811.4(HARBI1):c.814C>T (p.Arg272Cys)	HARBI1 (R272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104240	NM_173811.4(HARBI1):c.794G>A (p.Arg265Gln)	HARBI1 (R265Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283481	NM_173811.4(HARBI1):c.742C>T (p.Arg248Cys)	HARBI1 (R248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518165	NM_173811.4(HARBI1):c.692G>A (p.Arg231Gln)	HARBI1 (R231Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104239	NM_173811.4(HARBI1):c.658A>G (p.Ser220Gly)	HARBI1 (S220G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338852	NM_173811.4(HARBI1):c.580C>T (p.Pro194Ser)	HARBI1 (P194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283482	NM_173811.4(HARBI1):c.565G>A (p.Val189Met)	HARBI1 (V189M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104238	NM_173811.4(HARBI1):c.544A>C (p.Ile182Leu)	HARBI1 (I182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543014	NM_173811.4(HARBI1):c.455A>G (p.His152Arg)	HARBI1 (H152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402360	NM_173811.4(HARBI1):c.382A>G (p.Ile128Val)	HARBI1 (I128V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283484	NM_173811.4(HARBI1):c.380C>T (p.Ser127Phe)	HARBI1 (S127F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555403	NM_173811.4(HARBI1):c.277A>G (p.Ile93Val)	HARBI1 (I93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553497	NM_173811.4(HARBI1):c.269G>C (p.Gly90Ala)	HARBI1 (G90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555588	NM_173811.4(HARBI1):c.169C>G (p.Leu57Val)	HARBI1 (L57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597453	NM_173811.4(HARBI1):c.160G>A (p.Gly54Arg)	HARBI1 (G54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247347	NM_173811.4(HARBI1):c.113T>C (p.Met38Thr)	HARBI1 (M38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225151	NM_173811.4(HARBI1):c.83A>G (p.Asp28Gly)	HARBI1 (D28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104237	NM_173811.4(HARBI1):c.11C>A (p.Pro4Gln)	HARBI1 (P4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684645	GRCh37/hg19 11p11.2(chr11:46636234-47048768)x3	ARHGAP1, ATG13 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684644	GRCh37/hg19 11p11.2(chr11:46556948-46825148)x3	AMBRA1, ARHGAP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527641	GRCh37/hg19 11p11.2(chr11:46560809-46720908)	AMBRA1, ARHGAP1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527640	GRCh37/hg19 11p11.2(chr11:46248477-46748132)	AMBRA1, ARHGAP1 +8 more	Copy number loss	not specified	GUncertain significance
Select item 1448414	NC_000011.9:g.(?_46318032)_(46761066_?)dup	AMBRA1, ARHGAP1 +8 more	Duplication	not provided	GUncertain significance
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 1042681	NC_000011.9:g.(?_46569796)_(46742390_?)dup	ZNF408, AMBRA1 +4 more	Duplication	not provided	GUncertain significance
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979918	GRCh37/hg19 11p11.2(chr11:46418839-46753136)x3	ARHGAP1, ATG13 +4 more	Copy number gain	not provided	GUncertain significance
Select item 832135	NC_000011.10:g.(?_46366257)_(46744577_?)dup	AMBRA1, ARHGAP1 +8 more	Duplication	not provided	GUncertain significance
Select item 685706	GRCh37/hg19 11p11.2(chr11:46302171-46783079)x3	AMBRA1, ARHGAP1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563831	GRCh37/hg19 11p11.2(chr11:46502259-46745473)x3	AMBRA1, ARHGAP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 559401	Single allele	DGKZ, HARBI1 +4 more	Duplication	Short philtrum +4 more	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 51