POU2F2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 1064657	NC_000019.10:g.41952441_42266625del	ATP1A3, DEDD2 +42 more	Deletion	Syndromic craniosynostosis	GPathogenic
Select item 1064658	NC_000019.10:g.41983952_42247520del	ATP1A3, DEDD2 +33 more	Deletion	Syndromic intellectual disability	GPathogenic
Select item 1064661	GRCh38/hg38 19q13.2(chr19:41987984-42252574)x1	ATP1A3, DEDD2 +34 more	Copy number loss	Syndromic intellectual disability	GPathogenic
Select item 1064660	NC_000019.10:g.42032860_42297536del	LOC130064545, LOC130064546 +43 more	Deletion	Syndromic craniosynostosis	GPathogenic
Select item 2210467	NM_001394376.1(POU2F2):c.1292C>T (p.Thr431Met)	POU2F2 (T415M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313662	NM_001394376.1(POU2F2):c.1229C>T (p.Pro410Leu)	POU2F2 (P372L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275393	NM_001394376.1(POU2F2):c.1228C>T (p.Pro410Ser)	POU2F2 (P410S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399385	NM_001394376.1(POU2F2):c.874A>G (p.Thr292Ala)	POU2F2 (T276A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480732	NM_001394376.1(POU2F2):c.649G>A (p.Glu217Lys)	POU2F2 (E179K +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319220	NM_001394376.1(POU2F2):c.645C>A (p.His215Gln)	POU2F2 (H215Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285071	NM_001394376.1(POU2F2):c.530T>C (p.Leu177Pro)	POU2F2 (L177P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381307	NM_001394376.1(POU2F2):c.467G>A (p.Ser156Asn)	POU2F2 (S156N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609388	NM_001394376.1(POU2F2):c.373A>G (p.Ile125Val)	POU2F2 (I125V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362782	NM_001394376.1(POU2F2):c.313G>A (p.Ala105Thr)	POU2F2 (A105T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2330459	NM_001394376.1(POU2F2):c.286C>A (p.Pro96Thr)	POU2F2 (P96T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411960	NM_001394376.1(POU2F2):c.277G>A (p.Asp93Asn)	POU2F2 (D93N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	MEGF8-related Carpenter syndrome +3 more	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24