ClinVar for Gene (Select 5453) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309021	NM_002699.4(POU3F1):c.679G>T (p.Ala227Ser)	POU3F1 (A227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309020	NM_002699.4(POU3F1):c.637C>G (p.His213Asp)	POU3F1 (H213D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309019	NM_002699.4(POU3F1):c.478G>C (p.Ala160Pro)	POU3F1 (A160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216922	NM_002699.4(POU3F1):c.67A>T (p.Met23Leu)	POU3F1 (M23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216921	NM_002699.4(POU3F1):c.517G>A (p.Ala173Thr)	POU3F1 (A173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216920	NM_002699.4(POU3F1):c.484G>A (p.Ala162Thr)	POU3F1 (A162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216918	NM_002699.4(POU3F1):c.316G>A (p.Gly106Ser)	POU3F1 (G106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216917	NM_002699.4(POU3F1):c.292G>C (p.Gly98Arg)	POU3F1 (G98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638686	NM_002699.4(POU3F1):c.330A>C (p.Gly110=)	POU3F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569476	NM_002699.4(POU3F1):c.729G>C (p.Glu243Asp)	POU3F1 (E243D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558082	NM_002699.4(POU3F1):c.657C>A (p.His219Gln)	POU3F1 (H219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534483	NM_002699.4(POU3F1):c.394A>G (p.Ser132Gly)	POU3F1 (S132G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518345	NM_002699.4(POU3F1):c.305G>A (p.Arg102Gln)	POU3F1 (R102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510549	NM_002699.4(POU3F1):c.1264G>A (p.Gly422Ser)	POU3F1 (G422S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384880	NM_002699.4(POU3F1):c.607T>G (p.Ser203Ala)	POU3F1 (S203A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292021	NM_002699.4(POU3F1):c.1349T>A (p.Val450Glu)	POU3F1 (V450E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231918	NM_002699.4(POU3F1):c.700G>A (p.Ala234Thr)	POU3F1 (A234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222133	NM_002699.4(POU3F1):c.601G>A (p.Glu201Lys)	POU3F1 (E201K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 443349	GRCh37/hg19 1p34.3(chr1:37766562-38727114)x3	AIRIM, C1orf122 +16 more	Copy number gain	See cases	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27