"Ambry Genetics"[submitter] AND "EGFL8"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2461652	NM_030652.4(EGFL8):c.107G>T (p.Gly36Val)	EGFL8, PPT2-EGFL8 (G36V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2342980	NM_030652.4(EGFL8):c.204G>T (p.Arg68Ser)	EGFL8, PPT2-EGFL8 (R68S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2339092	NM_030652.4(EGFL8):c.319G>A (p.Ala107Thr)	EGFL8, PPT2-EGFL8 (A107T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087640	NM_030652.4(EGFL8):c.338T>A (p.Ile113Asn)	EGFL8, PPT2-EGFL8 (I113N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2282727	NM_030652.4(EGFL8):c.373G>A (p.Val125Ile)	EGFL8, PPT2-EGFL8 (V125I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087641	NM_030652.4(EGFL8):c.403G>A (p.Gly135Ser)	EGFL8, PPT2-EGFL8 (G135S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2357454	NM_030652.4(EGFL8):c.437A>G (p.Asp146Gly)	EGFL8, PPT2-EGFL8 (D146G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2217691	NM_030652.4(EGFL8):c.443G>A (p.Cys148Tyr)	EGFL8, PPT2-EGFL8 (C148Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2210498	NM_030652.4(EGFL8):c.447G>T (p.Arg149Ser)	EGFL8, PPT2-EGFL8 (R149S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2543662	NM_030652.4(EGFL8):c.473A>G (p.His158Arg)	EGFL8, PPT2-EGFL8 (H158R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2471215	NM_030652.4(EGFL8):c.505G>A (p.Gly169Ser)	EGFL8, PPT2-EGFL8 (G169S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2550929	NM_030652.4(EGFL8):c.588A>G (p.Ile196Met)	EGFL8, PPT2-EGFL8 (I196M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2289177	NM_030652.4(EGFL8):c.623A>G (p.Glu208Gly)	EGFL8, PPT2-EGFL8 (E208G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087643	NM_030652.4(EGFL8):c.625C>T (p.Arg209Cys)	EGFL8, PPT2-EGFL8 (R209C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2322138	NM_030652.4(EGFL8):c.626G>A (p.Arg209His)	EGFL8, PPT2-EGFL8 (R209H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2485081	NM_030652.4(EGFL8):c.724G>C (p.Val242Leu)	EGFL8, PPT2-EGFL8 (V242L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087644	NM_030652.4(EGFL8):c.781C>G (p.Arg261Gly)	EGFL8, PPT2-EGFL8 (R261G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087645	NM_030652.4(EGFL8):c.782G>A (p.Arg261Gln)	EGFL8, PPT2-EGFL8 (R261Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance