"PreventionGenetics, part of Exact Sciences"[submitter] AND "FGA"[gene - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256327	NM_000508.5(FGA):c.7_34dup	FGA	Duplication (3 prime UTR variant)	not specified +1 more	GBenign
Select item 256329	NM_000508.5(FGA):c.2586C>T (p.Pro862=)	FGA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2630904	NM_000508.5(FGA):c.2545G>T (p.Ala849Ser)	FGA (A849S)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 2636219	NM_000508.5(FGA):c.2186A>C (p.Glu729Ala)	FGA (E729A)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 3039141	NM_000508.5(FGA):c.2185G>C (p.Glu729Gln)	FGA (E729Q)	Single nucleotide variant (missense variant)	FGA-related disorder	GLikely benign
Select item 523628	NM_000508.5(FGA):c.2089G>A (p.Gly697Ser)	FGA (G697S)	Single nucleotide variant (missense variant)	FGA-related disorder +1 more	GUncertain significance
Select item 2629531	NM_000508.5(FGA):c.2060G>A (p.Arg687Gln)	FGA (R687Q)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 3051908	NM_000508.5(FGA):c.1989C>T (p.Cys663=)	FGA	Single nucleotide variant (synonymous variant)	FGA-related disorder	GLikely benign
Select item 2636105	NM_000508.5(FGA):c.1898A>C (p.Asp633Ala)	FGA (D633A)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 2636445	NM_021871.4(FGA):c.1895T>A (p.Ile632Asn)	FGA (I632N)	Single nucleotide variant (missense variant +1 more)	FGA-related disorder	GUncertain significance
Select item 16408	NM_021871.4(FGA):c.1718G>T (p.Arg573Leu)	FGA (R573L)	Single nucleotide variant (missense variant)	FGA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2632481	NM_021871.4(FGA):c.1483_1495del (p.Met495fs)	FGA (M495fs)	Deletion (frameshift variant)	FGA-related disorder	GPathogenic
Select item 783428	NM_021871.4(FGA):c.1366A>G (p.Thr456Ala)	FGA (T456A)	Single nucleotide variant (missense variant)	FGA-related disorder +4 more	GBenign/Likely benign
Select item 2632512	NM_021871.4(FGA):c.1330A>G (p.Thr444Ala)	FGA (T444A)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 16420	NM_021871.4(FGA):c.991A>G (p.Thr331Ala)	FGA (T331A)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +3 more	GConflicting classifications of pathogenicity
Select item 2633970	NM_021871.4(FGA):c.878del (p.Gly293fs)	FGA (G293fs)	Deletion (frameshift variant)	FGA-related disorder	GLikely pathogenic
Select item 3031849	NM_021871.4(FGA):c.804G>A (p.Glu268=)	FGA	Single nucleotide variant (synonymous variant)	FGA-related disorder	GLikely benign
Select item 708395	NM_021871.4(FGA):c.780G>A (p.Glu260=)	FGA	Single nucleotide variant (synonymous variant)	FGA-related disorder +4 more	GBenign/Likely benign
Select item 2631624	NM_021871.4(FGA):c.764C>T (p.Pro255Leu)	FGA (P255L)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 3032276	NM_021871.4(FGA):c.702C>G (p.Pro234=)	FGA	Single nucleotide variant (synonymous variant)	FGA-related disorder	GLikely benign
Select item 3048053	NM_021871.4(FGA):c.699T>C (p.Val233=)	FGA	Single nucleotide variant (synonymous variant)	FGA-related disorder	GLikely benign
Select item 3033182	NM_021871.4(FGA):c.435C>A (p.Val145=)	FGA	Single nucleotide variant (synonymous variant)	FGA-related disorder	GLikely benign
Select item 2629213	NM_021871.4(FGA):c.359C>T (p.Ala120Val)	FGA (A120V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 783429	NM_021871.4(FGA):c.300G>A (p.Lys100=)	FGA	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 2636392	NM_021871.4(FGA):c.107G>A (p.Gly36Asp)	FGA (G36D)	Single nucleotide variant (missense variant)	FGA-related disorder	GLikely pathogenic
Select item 16404	NM_021871.4(FGA):c.104G>A (p.Arg35His)	FGA (R35H)	Single nucleotide variant (missense variant)	FGA-related disorder +6 more	GPathogenic
Select item 16399	NM_000508.3(FGA):c.103C>T (p.Arg35Cys)	FGA (R35C)	Single nucleotide variant (missense variant)	FGA-related disorder +2 more	GPathogenic
Select item 256328	NM_021871.4(FGA):c.-14C>T	FGA	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign

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Items: 28