PBOV1[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 2457522	NM_021635.3(PBOV1):c.233A>G (p.His78Arg)	ARFGEF3, PBOV1 (H78R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271073	NM_021635.3(PBOV1):c.233A>T (p.His78Leu)	ARFGEF3, PBOV1 (H78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590740	NM_021635.3(PBOV1):c.175G>A (p.Val59Ile)	ARFGEF3, PBOV1 (V59I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318401	NM_021635.3(PBOV1):c.170A>G (p.Glu57Gly)	ARFGEF3, PBOV1 (E57G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209020	NM_021635.3(PBOV1):c.143T>C (p.Phe48Ser)	ARFGEF3, PBOV1 (F48S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621904	NM_021635.3(PBOV1):c.118G>A (p.Ala40Thr)	ARFGEF3, PBOV1 (A40T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656937	NM_021635.3(PBOV1):c.93C>T (p.Asn31=)	ARFGEF3, PBOV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	MYB, NHSL1 +32 more	Copy number loss	not provided	GPathogenic
Select item 980790	GRCh37/hg19 6q23.3(chr6:138396174-138736943)x3	ARFGEF3, HEBP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 972948	GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1	ABRACL, ARFGEF3 +23 more	Copy number loss	not provided	Gnot provided
Select item 830783	NC_000006.12:g.(?_137871228)_(138263611_?)del	ARFGEF3, PBOV1 +2 more	Deletion	not provided	GPathogenic
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic
Select item 394041	GRCh37/hg19 6q23.3(chr6:138537851-138539113)x1	ARFGEF3, PBOV1	Copy number loss	See cases	GUncertain significance

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Items: 23