"Ambry Genetics"[submitter] AND "AGFG1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3095428	NM_004504.5(AGFG1):c.71C>T (p.Pro24Leu)	AGFG1, LOC129935737 (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600116	NM_004504.5(AGFG1):c.341A>G (p.Lys114Arg)	AGFG1 (K114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256740	NM_004504.5(AGFG1):c.346T>A (p.Phe116Ile)	AGFG1 (F116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095414	NM_004504.5(AGFG1):c.478C>A (p.Leu160Met)	AGFG1 (L160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275826	NM_004504.5(AGFG1):c.562C>G (p.Gln188Glu)	AGFG1 (Q188E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275836	NM_004504.5(AGFG1):c.583A>C (p.Lys195Gln)	AGFG1 (K195Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338185	NM_004504.5(AGFG1):c.629C>T (p.Ala210Val)	AGFG1 (A210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477954	NM_004504.5(AGFG1):c.631C>T (p.Pro211Ser)	AGFG1 (P211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611564	NM_004504.5(AGFG1):c.644C>T (p.Ser215Leu)	AGFG1 (S215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275819	NM_004504.5(AGFG1):c.686G>C (p.Ser229Thr)	AGFG1 (S229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262127	NM_004504.5(AGFG1):c.722C>T (p.Ala241Val)	AGFG1 (A241V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219813	NM_004504.5(AGFG1):c.790T>A (p.Ser264Thr)	AGFG1 (S264T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318505	NM_004504.5(AGFG1):c.814+955G>A	AGFG1 (S281N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275813	NM_004504.5(AGFG1):c.868A>C (p.Lys290Gln)	AGFG1 (K314Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473774	NM_004504.5(AGFG1):c.946A>G (p.Thr316Ala)	AGFG1 (T316A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472410	NM_004504.5(AGFG1):c.1004A>G (p.Asn335Ser)	AGFG1 (N335S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095387	NM_004504.5(AGFG1):c.1007T>C (p.Ile336Thr)	AGFG1 (I296T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280139	NM_004504.5(AGFG1):c.1063G>C (p.Ala355Pro)	AGFG1 (A315P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275809	NM_004504.5(AGFG1):c.1206C>G (p.Ser402Arg)	AGFG1 (S402R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280875	NM_004504.5(AGFG1):c.1219A>C (p.Thr407Pro)	AGFG1 (T367P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597165	NM_004504.5(AGFG1):c.1247C>T (p.Thr416Ile)	AGFG1 (T376I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528217	NM_004504.5(AGFG1):c.1277C>T (p.Pro426Leu)	AGFG1 (P386L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601146	NM_004504.5(AGFG1):c.1339T>C (p.Ser447Pro)	AGFG1 (S471P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095404	NM_004504.5(AGFG1):c.1672A>G (p.Thr558Ala)	AGFG1 (T556A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 24