Related gene-specific medical variations for Gene (Select 5455) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362354	NM_006236.3(POU3F3):c.1224G>C (p.Lys408Asn)	POU3F3 (K408N)	Single nucleotide variant (missense variant)	Snijders blok-fisher syndrome	GUncertain significance
Select item 3362342	NM_006236.3(POU3F3):c.722GCG[4] (p.Gly245_Gly246del)	POU3F3	Microsatellite (inframe_deletion)	Snijders blok-fisher syndrome	GLikely pathogenic
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
Select item 3258102	NM_006236.3(POU3F3):c.1366A>G (p.Asn456Asp)	POU3F3 (N456D)	Single nucleotide variant (missense variant)	Snijders blok-fisher syndrome	GLikely pathogenic
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 3064771	NM_006236.3(POU3F3):c.582_602dup (p.Ala204_His205insAlaAlaAlaAlaAlaAlaAla)	POU3F3	Duplication (inframe_insertion)	Snijders blok-fisher syndrome	GUncertain significance
Select item 2689817	NM_006236.3(POU3F3):c.853C>T (p.Pro285Ser)	POU3F3 (P285S)	Single nucleotide variant (missense variant)	Snijders blok-fisher syndrome	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 2582422	NM_006236.3(POU3F3):c.1084C>G (p.Arg362Gly)	POU3F3 (R362G)	Single nucleotide variant (missense variant)	Snijders blok-fisher syndrome	GUncertain significance
Select item 2441636	NM_006236.3(POU3F3):c.1354G>C (p.Val452Leu)	POU3F3 (V452L)	Single nucleotide variant (missense variant)	Snijders blok-fisher syndrome	GUncertain significance
Select item 2435220	NM_006236.3(POU3F3):c.848C>G (p.Pro283Arg)	POU3F3 (P283R)	Single nucleotide variant (missense variant)	Snijders blok-fisher syndrome	GUncertain significance
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 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 2429901	NM_006236.3(POU3F3):c.196dup (p.Asp66fs)	POU3F3 (D66fs)	Duplication (frameshift variant)	Snijders blok-fisher syndrome	GPathogenic
Select item 2429900	NM_006236.3(POU3F3):c.209_213delinsC (p.Val70fs)	POU3F3 (V70fs)	Indel (frameshift variant)	Developmental disorder	GPathogenic
Select item 1707602	NM_006236.3(POU3F3):c.1240G>T (p.Glu414Ter)	POU3F3 (E414*)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 1696436	NM_006236.3(POU3F3):c.998G>C (p.Arg333Pro)	POU3F3 (R333P)	Single nucleotide variant (missense variant)	Snijders blok-fisher syndrome	GLikely pathogenic
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 1319841	NM_006236.3(POU3F3):c.568G>C (p.Ala190Pro)	POU3F3 (A190P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174106	NM_006236.3(POU3F3):c.967G>T (p.Glu323Ter)	POU3F3 (E323*)	Single nucleotide variant (nonsense)	Snijders blok-fisher syndrome	GPathogenic

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Links from Gene

Items: 22