Related gene-specific medical variations for Gene (Select 134187) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309055	NM_153216.2(POU5F2):c.478A>C (p.Ser160Arg)	ARB2A, POU5F2 (S160R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309054	NM_153216.2(POU5F2):c.854G>T (p.Cys285Phe)	ARB2A, POU5F2 (C285F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3309053	NM_153216.2(POU5F2):c.538C>G (p.Leu180Val)	ARB2A, POU5F2 (L180V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216975	NM_153216.2(POU5F2):c.659G>A (p.Arg220Gln)	ARB2A, POU5F2 (R220Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216974	NM_153216.2(POU5F2):c.656G>A (p.Arg219Gln)	ARB2A, POU5F2 (R219Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216973	NM_153216.2(POU5F2):c.578C>T (p.Ala193Val)	ARB2A, POU5F2 (A193V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216972	NM_153216.2(POU5F2):c.34C>A (p.Pro12Thr)	ARB2A, POU5F2 (P12T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216971	NM_153216.2(POU5F2):c.323G>C (p.Arg108Pro)	ARB2A, POU5F2 (R108P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541551	NM_153216.2(POU5F2):c.659G>C (p.Arg220Pro)	ARB2A, POU5F2 (R220P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512811	NM_153216.2(POU5F2):c.908C>G (p.Pro303Arg)	ARB2A, POU5F2 (P303R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380891	NM_153216.2(POU5F2):c.959C>T (p.Ala320Val)	ARB2A, POU5F2 (A320V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352632	NM_153216.2(POU5F2):c.295G>T (p.Ala99Ser)	ARB2A, POU5F2 (A99S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310353	NM_153216.2(POU5F2):c.457G>A (p.Ala153Thr)	ARB2A, POU5F2 (A153T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296725	NM_153216.2(POU5F2):c.425A>G (p.Tyr142Cys)	ARB2A, POU5F2 (Y142C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258854	NM_153216.2(POU5F2):c.280C>T (p.Arg94Cys)	ARB2A, POU5F2 (R94C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance