"GeneDx"[submitter] AND "POU3F3"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 145956	GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1	C2orf49, C2orf49-DT +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 1722826	NM_006236.3(POU3F3):c.1A>G (p.Met1Val)	POU3F3 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1801005	NM_006236.3(POU3F3):c.8C>G (p.Thr3Arg)	POU3F3 (T3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367558	NM_006236.3(POU3F3):c.101G>T (p.Gly34Val)	POU3F3 (G34V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678671	NM_006236.3(POU3F3):c.164G>C (p.Ser55Thr)	POU3F3 (S55T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343189	NM_006236.3(POU3F3):c.194G>A (p.Gly65Glu)	POU3F3 (G65E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723476	NM_006236.3(POU3F3):c.246_267del (p.Met82fs)	POU3F3 (M82fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2574444	NM_006236.3(POU3F3):c.280G>A (p.Ala94Thr)	POU3F3 (A94T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364249	NM_006236.3(POU3F3):c.293T>C (p.Val98Ala)	POU3F3 (V98A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683789	NM_006236.3(POU3F3):c.338C>T (p.Ala113Val)	POU3F3 (A113V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412972	NM_006236.3(POU3F3):c.366G>A (p.Trp122Ter)	POU3F3 (W122*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2579420	NM_006236.3(POU3F3):c.382G>T (p.Gly128Cys)	POU3F3 (G128C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723837	NM_006236.3(POU3F3):c.410C>A (p.Pro137Gln)	POU3F3 (P137Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1698145	NM_006236.3(POU3F3):c.427C>G (p.Pro143Ala)	POU3F3 (P143A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700540	NM_006236.3(POU3F3):c.514C>T (p.Leu172Phe)	POU3F3 (L172F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136171	NM_006236.3(POU3F3):c.524del (p.Pro175fs)	POU3F3 (P175fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2573200	NM_006236.3(POU3F3):c.561G>A (p.Trp187Ter)	POU3F3 (W187*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2503357	NM_006236.3(POU3F3):c.604_605delinsCT (p.Ala202Leu)	POU3F3 (A202L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1675234	NM_006236.3(POU3F3):c.620C>T (p.Pro207Leu)	POU3F3 (P207L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704995	NM_006236.3(POU3F3):c.655_656del (p.Leu220fs)	POU3F3 (L220fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1695538	NM_006236.3(POU3F3):c.791C>A (p.Thr264Lys)	POU3F3 (T264K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703319	NM_006236.3(POU3F3):c.922C>A (p.His308Asn)	POU3F3 (H308N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307061	NM_006236.3(POU3F3):c.1070A>G (p.Gln357Arg)	POU3F3 (Q357R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3034123	NM_006236.3(POU3F3):c.1084C>T (p.Arg362Cys)	POU3F3 (R362C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377969	NM_006236.3(POU3F3):c.1157A>T (p.Glu386Val)	POU3F3 (E386V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428991	NM_006236.3(POU3F3):c.1269C>A (p.Ser423Arg)	POU3F3 (S423R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446204	NM_006236.3(POU3F3):c.1285C>T (p.Pro429Ser)	POU3F3 (P429S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308458	NM_006236.3(POU3F3):c.1348G>A (p.Val450Met)	POU3F3 (V450M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375984	NM_006236.3(POU3F3):c.1351C>T (p.Arg451Trp)	POU3F3 (R451W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371517	NM_006236.3(POU3F3):c.1373G>C (p.Arg458Pro)	POU3F3 (R458P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708568	NM_006236.3(POU3F3):c.1392G>A (p.Met464Ile)	POU3F3 (M464I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360964	NM_006236.3(POU3F3):c.106_107insCAG (p.Gly35_Gly36insAla)	POU3F3	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 3360644	NM_006236.3(POU3F3):c.1459G>T (p.Asp487Tyr)	POU3F3 (D487Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359915	NM_006236.3(POU3F3):c.997C>A (p.Arg333Ser)	POU3F3 (R333S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 36