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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3092123	NM_001386888.1(AFDN):c.716G>A (p.Ser239Asn)	AFDN (S198N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253557	NM_001386888.1(AFDN):c.1619T>C (p.Ile540Thr)	AFDN (I526T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356749	NM_001386888.1(AFDN):c.1973A>G (p.Glu658Gly)	AFDN (E617G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237859	NM_001386888.1(AFDN):c.2996G>A (p.Arg999His)	AFDN (R951H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257083	NM_001386888.1(AFDN):c.3481C>G (p.Pro1161Ala)	AFDN (P1113A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258348	NM_001386888.1(AFDN):c.3484A>G (p.Lys1162Glu)	AFDN (K1155E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222724	NM_001386888.1(AFDN):c.3528T>A (p.Asp1176Glu)	AFDN (D1128E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257243	NM_001386888.1(AFDN):c.3932T>C (p.Met1311Thr)	AFDN (M1296T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386628	NM_001386888.1(AFDN):c.4405A>G (p.Met1469Val)	AFDN (M1421V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261071	NM_001386888.1(AFDN):c.4547A>C (p.Asp1516Ala)	AFDN (D1492A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259908	NM_001386888.1(AFDN):c.4901G>T (p.Arg1634Leu)	AFDN (R1584L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance