ClinVar for Gene (Select 5452) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309016	NM_001394376.1(POU2F2):c.1306C>T (p.Arg436Trp)	POU2F2 (R420W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216907	NM_001394376.1(POU2F2):c.58G>A (p.Glu20Lys)	POU2F2 (E8K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216906	NM_001394376.1(POU2F2):c.344T>C (p.Met115Thr)	POU2F2 (M115T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216905	NM_001394376.1(POU2F2):c.169A>C (p.Thr57Pro)	POU2F2 (T57P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216904	NM_001394376.1(POU2F2):c.166C>T (p.Pro56Ser)	POU2F2 (P44S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216903	NM_001394376.1(POU2F2):c.1403C>T (p.Thr468Ile)	POU2F2 (T452I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216901	NM_001394376.1(POU2F2):c.1391C>T (p.Thr464Ile)	POU2F2 (T464I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216900	NM_001394376.1(POU2F2):c.1355A>G (p.Asn452Ser)	POU2F2 (N452S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216899	NM_001394376.1(POU2F2):c.1343C>T (p.Ala448Val)	POU2F2 (A525V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3216898	NM_001394376.1(POU2F2):c.1198G>A (p.Val400Ile)	POU2F2 (V362I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609388	NM_001394376.1(POU2F2):c.373A>G (p.Ile125Val)	POU2F2 (I125V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480732	NM_001394376.1(POU2F2):c.649G>A (p.Glu217Lys)	POU2F2 (E179K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 2411960	NM_001394376.1(POU2F2):c.277G>A (p.Asp93Asn)	POU2F2 (D93N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399385	NM_001394376.1(POU2F2):c.874A>G (p.Thr292Ala)	POU2F2 (T276A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381307	NM_001394376.1(POU2F2):c.467G>A (p.Ser156Asn)	POU2F2 (S156N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362782	NM_001394376.1(POU2F2):c.313G>A (p.Ala105Thr)	POU2F2 (A105T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2330459	NM_001394376.1(POU2F2):c.286C>A (p.Pro96Thr)	POU2F2 (P96T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319220	NM_001394376.1(POU2F2):c.645C>A (p.His215Gln)	POU2F2 (H215Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313662	NM_001394376.1(POU2F2):c.1229C>T (p.Pro410Leu)	POU2F2 (P372L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285071	NM_001394376.1(POU2F2):c.530T>C (p.Leu177Pro)	POU2F2 (L177P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275393	NM_001394376.1(POU2F2):c.1228C>T (p.Pro410Ser)	POU2F2 (P410S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210467	NM_001394376.1(POU2F2):c.1292C>T (p.Thr431Met)	POU2F2 (T415M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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	CIC, DEDD2 +43 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 1064657	NC_000019.10:g.41952441_42266625del	ATP1A3, DEDD2 +42 more	Deletion	Syndromic craniosynostosis	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
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 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 34