POU3F3[gene] - ClinVar - NCBI

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	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 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	See cases	GUncertain significance
Select item 154902	GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1	C2orf49, C2orf49-DT +111 more	Copy number loss	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 145646	GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1	TMEM182, C2orf49 +113 more	Copy number loss	See cases	GLikely pathogenic
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 154722	GRCh38/hg38 2q12.1(chr2:104646642-105064104)x1	LINC01114, LINC01159 +20 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 2651213	NM_006236.3(POU3F3):c.21C>T (p.Asn7=)	POU3F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2525858	NM_006236.3(POU3F3):c.75C>G (p.Asp25Glu)	POU3F3 (D25E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634531	NM_006236.3(POU3F3):c.82G>A (p.Gly28Arg)	POU3F3 (G28R)	Single nucleotide variant (missense variant)	POU3F3-related disorder	GUncertain significance
Select item 3056811	NM_006236.3(POU3F3):c.87T>C (p.Ala29=)	POU3F3	Single nucleotide variant (synonymous variant)	POU3F3-related disorder	GLikely benign
Select item 2651214	NM_006236.3(POU3F3):c.90C>T (p.Gly30=)	POU3F3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1341877	NM_006236.3(POU3F3):c.98G>A (p.Gly33Glu)	POU3F3 (G33E)	Single nucleotide variant (missense variant)	Snijders blok-fisher syndrome	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 2651215	NM_006236.3(POU3F3):c.105CGG[7] (p.Gly43_Ala44insGly)	POU3F3	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2358994	NM_006236.3(POU3F3):c.122_130del (p.Gly41_Gly43del)	POU3F3	Deletion (inframe_deletion)	Inborn genetic diseases	GLikely benign
Select item 2651216	NM_006236.3(POU3F3):c.131_148del (p.Ala44_Gly49del)	POU3F3	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2651217	NM_006236.3(POU3F3):c.120C>G (p.Gly40=)	POU3F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591665	NM_006236.3(POU3F3):c.123_125dup (p.Gly43_Ala44insGly)	POU3F3	Duplication (inframe_insertion)	Inborn genetic diseases +1 more	GBenign
Select item 985404	NM_006236.3(POU3F3):c.125del (p.Gly42fs)	POU3F3 (G42fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2534484	NM_006236.3(POU3F3):c.137G>C (p.Gly46Ala)	POU3F3 (G46A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3388414	NM_006236.3(POU3F3):c.138C>G (p.Gly46=)	POU3F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3309029	NM_006236.3(POU3F3):c.157C>T (p.Pro53Ser)	POU3F3 (P53S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431793	NM_006236.3(POU3F3):c.163A>C (p.Ser55Arg)	POU3F3 (S55R)	Single nucleotide variant (missense variant)	Snijders blok-fisher syndrome	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 2429901	NM_006236.3(POU3F3):c.196dup (p.Asp66fs)	POU3F3 (D66fs)	Duplication (frameshift variant)	Snijders blok-fisher syndrome	GPathogenic
Select item 2634096	NM_006236.3(POU3F3):c.191G>T (p.Arg64Leu)	POU3F3 (R64L)	Single nucleotide variant (missense variant)	POU3F3-related disorder	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 3216929	NM_006236.3(POU3F3):c.196G>A (p.Asp66Asn)	POU3F3 (D66N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 691585	NM_006236.3(POU3F3):c.196_197delinsT (p.Asp66fs)	POU3F3 (D66fs)	Indel (frameshift variant)	Snijders blok-fisher syndrome	GPathogenic/Likely pathogenic
Select item 2534486	NM_006236.3(POU3F3):c.202T>G (p.Ser68Ala)	POU3F3 (S68A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2429900	NM_006236.3(POU3F3):c.209_213delinsC (p.Val70fs)	POU3F3 (V70fs)	Indel (frameshift variant)	Developmental disorder	GPathogenic
Select item 2324091	NM_006236.3(POU3F3):c.222G>C (p.Gln74His)	POU3F3 (Q74H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230813	NM_006236.3(POU3F3):c.224G>A (p.Ser75Asn)	POU3F3 (S75N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557484	NM_006236.3(POU3F3):c.238G>T (p.Gly80Trp)	POU3F3 (G80W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2260683	NM_006236.3(POU3F3):c.241G>A (p.Ala81Thr)	POU3F3 (A81T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1690959	NM_006236.3(POU3F3):c.253A>C (p.Ser85Arg)	POU3F3 (S85R)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2245820	NM_006236.3(POU3F3):c.254G>C (p.Ser85Thr)	POU3F3 (S85T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 985594	NM_006236.3(POU3F3):c.295A>C (p.Thr99Pro)	POU3F3 (T99P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 522124	NM_006236.3(POU3F3):c.305C>T (p.Pro102Leu)	POU3F3 (P102L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689816	NM_006236.3(POU3F3):c.309CGC[9] (p.Ala115_Val116insAlaAla)	POU3F3	Microsatellite (inframe_insertion)	Snijders blok-fisher syndrome	GUncertain significance
Select item 3038411	NM_006236.3(POU3F3):c.309CGC[6] (p.Ala115del)	POU3F3 (A115del)	Microsatellite	POU3F3-related disorder	GLikely benign
Select item 3341642	NM_006236.3(POU3F3):c.321C>T (p.Ala107=)	POU3F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651218	NM_006236.3(POU3F3):c.330T>C (p.Ala110=)	POU3F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2030886	NM_006236.3(POU3F3):c.340G>T (p.Ala114Ser)	POU3F3 (A114S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065233	NM_006236.3(POU3F3):c.349G>T (p.Glu117Ter)	POU3F3 (E117*)	Single nucleotide variant (nonsense)	Snijders blok-fisher syndrome	GLikely pathogenic
Select item 2412972	NM_006236.3(POU3F3):c.366G>A (p.Trp122Ter)	POU3F3 (W122*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1701384	NM_006236.3(POU3F3):c.369G>A (p.Ser123=)	POU3F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 807662	NM_006236.3(POU3F3):c.398_407del (p.Pro133fs)	POU3F3 (P133fs)	Deletion (frameshift variant)	Snijders blok-fisher syndrome	GPathogenic
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 2516037	NM_006236.3(POU3F3):c.413A>C (p.Gln138Pro)	POU3F3 (Q138P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3216931	NM_006236.3(POU3F3):c.436G>A (p.Gly146Ser)	POU3F3 (G146S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3026346	NM_006236.3(POU3F3):c.519A>C (p.Gly173=)	POU3F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136171	NM_006236.3(POU3F3):c.524del (p.Pro175fs)	POU3F3 (P175fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3216932	NM_006236.3(POU3F3):c.527C>T (p.Pro176Leu)	POU3F3 (P176L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387058	NM_006236.3(POU3F3):c.530C>T (p.Pro177Leu)	POU3F3 (P177L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651219	NM_006236.3(POU3F3):c.534C>T (p.Pro178=)	POU3F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2435219	NM_006236.3(POU3F3):c.536C>T (p.Pro179Leu)	POU3F3 (P179L)	Single nucleotide variant (missense variant)	Snijders blok-fisher syndrome	GUncertain significance
Select item 1319842	NM_006236.3(POU3F3):c.549C>T (p.His183=)	POU3F3	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3216934	NM_006236.3(POU3F3):c.551C>T (p.Pro184Leu)	POU3F3 (P184L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216933	NM_006236.3(POU3F3):c.551C>G (p.Pro184Arg)	POU3F3 (P184R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216935	NM_006236.3(POU3F3):c.553G>A (p.Gly185Arg)	POU3F3 (G185R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216936	NM_006236.3(POU3F3):c.559T>G (p.Trp187Gly)	POU3F3 (W187G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3216937	NM_006236.3(POU3F3):c.566C>G (p.Ala189Gly)	POU3F3 (A189G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231476	NM_006236.3(POU3F3):c.566C>T (p.Ala189Val)	POU3F3 (A189V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3381664	NM_006236.3(POU3F3):c.576_605del (p.Ala195_Ala204del)	POU3F3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1319841	NM_006236.3(POU3F3):c.568G>C (p.Ala190Pro)	POU3F3 (A190P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032088	NM_006236.3(POU3F3):c.570C>G (p.Ala190=)	POU3F3	Single nucleotide variant (synonymous variant)	POU3F3-related disorder	GLikely benign
Select item 3054188	NM_006236.3(POU3F3):c.573C>G (p.Ala191=)	POU3F3	Single nucleotide variant (synonymous variant)	POU3F3-related disorder	GLikely benign
Select item 3064771	NM_006236.3(POU3F3):c.582_602dup (p.Ala204_His205insAlaAlaAlaAlaAlaAlaAla)	POU3F3	Duplication (inframe_insertion)	Snijders blok-fisher syndrome	GUncertain significance
Select item 3309027	NM_006236.3(POU3F3):c.582AGCCGC[1] (p.Ala203_Ala204del)	POU3F3	Microsatellite (inframe_deletion)	Inborn genetic diseases	GLikely benign
Select item 2651220	NM_006236.3(POU3F3):c.588A>C (p.Ala196=)	POU3F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2388736	NM_006236.3(POU3F3):c.593_594insAGC (p.Ala204_His205insAla)	POU3F3	Insertion (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 2503357	NM_006236.3(POU3F3):c.604_605delinsCT (p.Ala202Leu)	POU3F3 (A202L)	Indel (missense variant)	not provided	GUncertain significance
Select item 2295035	NM_006236.3(POU3F3):c.614_620dup (p.Ser208fs)	POU3F3 (S208fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1801488	NM_006236.3(POU3F3):c.617_632delinsCCC (p.Leu206fs)	POU3F3 (L206fs)	Indel (frameshift variant)	Snijders blok-fisher syndrome	GLikely pathogenic
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 2365407	NM_006236.3(POU3F3):c.634G>A (p.Gly212Ser)	POU3F3 (G212S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704995	NM_006236.3(POU3F3):c.655_656del (p.Leu220fs)	POU3F3 (L220fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2230706	NM_006236.3(POU3F3):c.658C>G (p.Leu220Val)	POU3F3 (L220V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 691586	NM_006236.3(POU3F3):c.668C>A (p.Ser223Ter)	POU3F3 (S223*)	Single nucleotide variant (nonsense)	Snijders blok-fisher syndrome	GPathogenic
Select item 2809266	NM_006236.3(POU3F3):c.680G>A (p.Gly227Asp)	POU3F3 (G227D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3388690	NM_006236.3(POU3F3):c.711A>G (p.Pro237=)	POU3F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672825	NM_006236.3(POU3F3):c.719C>G (p.Pro240Arg)	POU3F3 (P240R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2236285	NM_006236.3(POU3F3):c.721G>A (p.Gly241Ser)	POU3F3 (G241S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435218	NM_006236.3(POU3F3):c.722G>C (p.Gly241Ala)	POU3F3 (G241A)	Single nucleotide variant (missense variant)	Snijders blok-fisher syndrome	GUncertain significance
Select item 3388691	NM_006236.3(POU3F3):c.723C>T (p.Gly241=)	POU3F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3309036	NM_006236.3(POU3F3):c.736G>A (p.Gly246Ser)	POU3F3 (G246S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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