"Ambry Genetics"[submitter] AND "FER"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3094387	NM_005246.4(FER):c.52C>A (p.Gln18Lys)	FER (Q18K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2548182	NM_005246.4(FER):c.55G>C (p.Asp19His)	FER (D19H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3278483	NM_005246.4(FER):c.131C>G (p.Ser44Cys)	FER (S44C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2245794	NM_005246.4(FER):c.257A>G (p.Lys86Arg)	FER (K86R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610141	NM_005246.4(FER):c.305T>C (p.Met102Thr)	FER (M102T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298617	NM_005246.4(FER):c.323A>G (p.Gln108Arg)	FER (Q108R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3094385	NM_005246.4(FER):c.346G>C (p.Gly116Arg)	FER (G116R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3094386	NM_005246.4(FER):c.526A>G (p.Met176Val)	FER (M176V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277079	NM_005246.4(FER):c.673A>G (p.Ile225Val)	FER (I225V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326456	NM_005246.4(FER):c.700A>C (p.Ser234Arg)	FER (S59R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394441	NM_005246.4(FER):c.782A>G (p.Asn261Ser)	FER (N261S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547514	NM_005246.4(FER):c.814G>A (p.Ala272Thr)	FER (A272T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278482	NM_005246.4(FER):c.841A>G (p.Thr281Ala)	FER (T281A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278480	NM_005246.4(FER):c.850C>G (p.Leu284Val)	FER (L109V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464830	NM_005246.4(FER):c.922A>G (p.Met308Val)	FER (M308V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094388	NM_005246.4(FER):c.950T>C (p.Met317Thr)	FER (M317T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356868	NM_005246.4(FER):c.1028C>T (p.Thr343Ile)	FER (T168I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301544	NM_005246.4(FER):c.1222T>A (p.Ser408Thr)	FER (S408T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547743	NM_005246.4(FER):c.1251G>T (p.Arg417Ser)	FER (R417S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278485	NM_005246.4(FER):c.1318G>C (p.Gly440Arg)	FER (G265R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094382	NM_005246.4(FER):c.1375G>A (p.Asp459Asn)	FER (D284N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490193	NM_005246.4(FER):c.1445T>G (p.Val482Gly)	FER (V307G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094383	NM_005246.4(FER):c.1489T>C (p.Tyr497His)	FER (Y128H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278484	NM_005246.4(FER):c.1529T>A (p.Val510Asp)	FER (V510D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464496	NM_005246.4(FER):c.1529T>G (p.Val510Gly)	FER (V335G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495317	NM_005246.4(FER):c.1582A>C (p.Ile528Leu)	FER (I159L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495658	NM_005246.4(FER):c.1598C>G (p.Thr533Arg)	FER (T533R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605894	NM_005246.4(FER):c.1639C>G (p.Leu547Val)	FER (L178V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258746	NM_005246.4(FER):c.1684G>A (p.Asp562Asn)	FER (D193N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526062	NM_005246.4(FER):c.1691T>C (p.Ile564Thr)	FER (I195T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2347395	NM_005246.4(FER):c.2120G>A (p.Arg707His)	FER (R338H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094384	NM_005246.4(FER):c.2383A>C (p.Lys795Gln)	FER (K795Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278481	NM_005246.4(FER):c.2443A>G (p.Thr815Ala)	FER (T640A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 33