POU2AF1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 2313410	NM_006235.3(POU2AF1):c.737C>T (p.Ala246Val)	POU2AF1 (A246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396916	NM_006235.3(POU2AF1):c.723T>G (p.Asp241Glu)	POU2AF1 (D241E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216882	NM_006235.3(POU2AF1):c.647T>C (p.Val216Ala)	POU2AF1 (V216A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369925	NM_006235.3(POU2AF1):c.587C>T (p.Pro196Leu)	POU2AF1 (P196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539276	NM_006235.3(POU2AF1):c.547C>G (p.Leu183Val)	POU2AF1 (L183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479632	NM_006235.3(POU2AF1):c.520C>A (p.Leu174Ile)	POU2AF1 (L174I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687959	NM_006235.3(POU2AF1):c.456+1000A>G	POU2AF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2480679	NM_006235.3(POU2AF1):c.284C>A (p.Thr95Asn)	POU2AF1 (T95N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363089	NM_006235.3(POU2AF1):c.283A>C (p.Thr95Pro)	POU2AF1 (T95P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380678	NM_006235.3(POU2AF1):c.256G>A (p.Gly86Ser)	POU2AF1 (G86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493667	NM_006235.3(POU2AF1):c.254C>T (p.Ala85Val)	POU2AF1 (A85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 870852	NM_006235.3(POU2AF1):c.233del (p.Thr78fs)	POU2AF1 (T78fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 738438	NM_006235.3(POU2AF1):c.225T>C (p.Ser75=)	POU2AF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717711	NM_006235.3(POU2AF1):c.191-3C>T	POU2AF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786212	NM_006235.3(POU2AF1):c.181A>G (p.Thr61Ala)	POU2AF1 (T61A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725244	NM_006235.3(POU2AF1):c.148-4C>T	POU2AF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688213	NM_006235.3(POU2AF1):c.147+91_147+92dup	POU2AF1	Duplication (intron variant)	not specified	GBenign
Select item 2688270	NM_006235.3(POU2AF1):c.147+90_147+91dup	POU2AF1	Duplication (intron variant)	not specified	GBenign
Select item 2688200	NM_006235.3(POU2AF1):c.147+89_147+90insGG	POU2AF1	Insertion (intron variant)	not specified	GBenign
Select item 2688040	NM_006235.3(POU2AF1):c.147+43A>G	POU2AF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 783646	NM_006235.3(POU2AF1):c.129A>G (p.Ala43=)	POU2AF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768482	NM_006235.3(POU2AF1):c.114C>T (p.His38=)	POU2AF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2557699	NM_006235.3(POU2AF1):c.37C>T (p.Pro13Ser)	POU2AF1 (P13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687935	NM_006235.3(POU2AF1):c.16+1373G>C	POU2AF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687953	NM_006235.3(POU2AF1):c.16+1247T>C	POU2AF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688010	NM_006235.3(POU2AF1):c.16+102G>C	POU2AF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687936	NM_006235.3(POU2AF1):c.16+68T>C	POU2AF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2424604	NC_000011.9:g.(?_111171709)_(111958707_?)del	NKAPD1, POU2AF1 +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 2424602	NC_000011.9:g.(?_111171709)_(111959745_?)del	ALG9, BTG4 +20 more	Deletion	Paragangliomas with sensorineural hearing loss +3 more	GPathogenic
Select item 2422869	NC_000011.9:g.(?_111171709)_(112104278_?)dup	ALG9, BCO2 +24 more	Duplication	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GUncertain significance
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 1003647	NC_000011.9:g.(?_111171709)_(111965694_?)dup	PIH1D2, POU2AF1 +20 more	Duplication	Cowden syndrome 3 +3 more	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 831566	NC_000011.9:g.(?_111171709)_(111965694_?)del	DIXDC1, DLAT +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 47