"Ambry Genetics"[submitter] AND "OPALIN"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2496266	NM_033207.5(OPALIN):c.296A>G (p.Gln99Arg)	OPALIN (Q76R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292817	NM_033207.5(OPALIN):c.286A>T (p.Met96Leu)	OPALIN (M73L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204345	NM_033207.5(OPALIN):c.278A>G (p.Lys93Arg)	OPALIN (K81R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493741	NM_033207.5(OPALIN):c.266C>T (p.Pro89Leu)	OPALIN (P77L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539936	NM_033207.5(OPALIN):c.245C>A (p.Ser82Tyr)	OPALIN (S70Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296526	NM_033207.5(OPALIN):c.193G>A (p.Glu65Lys)	OPALIN (E54K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524895	NM_033207.5(OPALIN):c.171A>C (p.Arg57Ser)	OPALIN (R47S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610498	NM_033207.5(OPALIN):c.133C>G (p.Leu45Val)	OPALIN (L33V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223889	NM_033207.5(OPALIN):c.86C>G (p.Ser29Cys)	OPALIN (S6C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2354622	NM_033207.5(OPALIN):c.83C>T (p.Pro28Leu)	OPALIN (P18L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance