ClinVar for Gene (Select 5089) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304504	NM_002586.5(PBX2):c.1268G>A (p.Ser423Asn)	PBX2 (S423N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209026	NM_002586.5(PBX2):c.418G>C (p.Ala140Pro)	PBX2 (A140P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209025	NM_002586.5(PBX2):c.40G>T (p.Gly14Cys)	PBX2 (G14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209024	NM_002586.5(PBX2):c.1197G>A (p.Met399Ile)	PBX2 (M399I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616454	NM_002586.5(PBX2):c.934G>A (p.Glu312Lys)	PBX2 (E312K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605900	NM_002586.5(PBX2):c.796C>T (p.His266Tyr)	PBX2 (H266Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558152	NM_002586.5(PBX2):c.439G>A (p.Gly147Ser)	PBX2 (G147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2365001	NM_002586.5(PBX2):c.982G>T (p.Gly328Cys)	PBX2 (G328C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360564	NM_002586.5(PBX2):c.1064T>C (p.Met355Thr)	PBX2 (M355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357858	NM_002586.5(PBX2):c.1033G>A (p.Gly345Ser)	PBX2 (G345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342137	NM_002586.5(PBX2):c.1165G>A (p.Gly389Arg)	PBX2 (G389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313058	NM_002586.5(PBX2):c.195C>A (p.Asp65Glu)	PBX2 (D65E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308117	NM_002586.5(PBX2):c.178A>G (p.Ile60Val)	PBX2 (I60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299224	NM_002586.5(PBX2):c.434C>T (p.Ala145Val)	PBX2 (A145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298723	NM_002586.5(PBX2):c.200G>A (p.Ser67Asn)	PBX2 (S67N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285086	NM_002586.5(PBX2):c.121A>G (p.Ser41Gly)	PBX2 (S41G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216589	NM_002586.5(PBX2):c.89A>G (p.Glu30Gly)	PBX2 (E30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527233	GRCh37/hg19 6p21.33-21.32(chr6:31952482-32243155)	AGER, AGPAT1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 814808	GRCh37/hg19 6p21.33-21.32(chr6:31916915-32278000)x3	AGER, AGPAT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 686165	GRCh37/hg19 6p21.33-21.32(chr6:32027371-32448599)x3	AGER, AGPAT1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	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 253700	GRCh37/hg19 6p21.33-21.32(chr6:32052479-32184403)x3	AGER, AGPAT1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28