ARHGAP1[gene] - ClinVar

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Items: 54

	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 3128457	NM_004308.5(ARHGAP1):c.1301C>T (p.Pro434Leu)	ARHGAP1 (P434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128456	NM_004308.5(ARHGAP1):c.1259C>T (p.Thr420Ile)	ARHGAP1 (T420I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128455	NM_004308.5(ARHGAP1):c.1192C>T (p.Pro398Ser)	ARHGAP1 (P398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128454	NM_004308.5(ARHGAP1):c.1150C>G (p.Gln384Glu)	ARHGAP1 (Q384E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384336	NM_004308.5(ARHGAP1):c.1142A>G (p.His381Arg)	ARHGAP1 (H381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721757	NM_004308.5(ARHGAP1):c.1105C>T (p.Arg369Cys)	ARHGAP1 (R369C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2461806	NM_004308.5(ARHGAP1):c.1084G>A (p.Glu362Lys)	ARHGAP1 (E362K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322892	NM_004308.5(ARHGAP1):c.1009C>T (p.His337Tyr)	ARHGAP1 (H337Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749909	NM_004308.5(ARHGAP1):c.915C>T (p.Phe305=)	ARHGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711378	NM_004308.5(ARHGAP1):c.787C>T (p.Leu263Phe)	ARHGAP1 (L263F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 932503	NM_004308.5(ARHGAP1):c.768G>A (p.Gln256=)	ARHGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128462	NM_004308.5(ARHGAP1):c.760C>A (p.Pro254Thr)	ARHGAP1 (P254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128461	NM_004308.5(ARHGAP1):c.758A>T (p.Asn253Ile)	ARHGAP1 (N253I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733740	NM_004308.5(ARHGAP1):c.708C>A (p.Pro236=)	ARHGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2534068	NM_004308.5(ARHGAP1):c.704C>A (p.Pro235His)	ARHGAP1 (P235H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128460	NM_004308.5(ARHGAP1):c.673G>T (p.Ala225Ser)	ARHGAP1 (A225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232938	NM_004308.5(ARHGAP1):c.663G>C (p.Gln221His)	ARHGAP1 (Q221H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739614	NM_004308.5(ARHGAP1):c.642C>T (p.Asp214=)	ARHGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2363753	NM_004308.5(ARHGAP1):c.563A>G (p.Tyr188Cys)	ARHGAP1 (Y188C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600208	NM_004308.5(ARHGAP1):c.526C>G (p.Pro176Ala)	ARHGAP1 (P176A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275817	NM_004308.5(ARHGAP1):c.412A>T (p.Ser138Cys)	ARHGAP1 (S138C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218319	NM_004308.5(ARHGAP1):c.394G>A (p.Asp132Asn)	ARHGAP1 (D132N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224369	NM_004308.5(ARHGAP1):c.298G>A (p.Asp100Asn)	ARHGAP1 (D100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128459	NM_004308.5(ARHGAP1):c.284C>T (p.Pro95Leu)	ARHGAP1 (P95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128458	NM_004308.5(ARHGAP1):c.256A>G (p.Ile86Val)	ARHGAP1 (I86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722022	NM_004308.5(ARHGAP1):c.205C>T (p.Arg69Trp)	ARHGAP1 (R69W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3310610	NM_004308.5(ARHGAP1):c.202G>C (p.Ala68Pro)	ARHGAP1 (A68P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726522	NM_004308.5(ARHGAP1):c.156G>A (p.Pro52=)	ARHGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3128463	NM_004308.5(ARHGAP1):c.77C>T (p.Ala26Val)	ARHGAP1 (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128464	NM_004308.5(ARHGAP1):c.8C>T (p.Pro3Leu)	ARHGAP1 (P3L)	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 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: 54