"Ambry Genetics"[submitter] AND "EGFL6"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2272359	NM_015507.4(EGFL6):c.86A>G (p.His29Arg)	EGFL6 (H29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087622	NM_015507.4(EGFL6):c.134C>T (p.Thr45Ile)	EGFL6 (T45I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087624	NM_015507.4(EGFL6):c.143C>T (p.Ala48Val)	EGFL6 (A48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087626	NM_015507.4(EGFL6):c.232A>G (p.Asn78Asp)	EGFL6 (N78D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219259	NM_015507.4(EGFL6):c.262G>A (p.Gly88Arg)	EGFL6 (G88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311521	NM_015507.4(EGFL6):c.298A>C (p.Met100Leu)	EGFL6 (M100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087627	NM_015507.4(EGFL6):c.337C>T (p.His113Tyr)	EGFL6 (H113Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087628	NM_015507.4(EGFL6):c.431A>G (p.Gln144Arg)	EGFL6 (Q144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274729	NM_015507.4(EGFL6):c.440G>A (p.Cys147Tyr)	EGFL6 (C147Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087629	NM_015507.4(EGFL6):c.441T>G (p.Cys147Trp)	EGFL6 (C147W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087631	NM_015507.4(EGFL6):c.487C>T (p.Leu163Phe)	EGFL6 (L163F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331509	NM_015507.4(EGFL6):c.524T>C (p.Ile175Thr)	EGFL6 (I175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274728	NM_015507.4(EGFL6):c.635G>A (p.Ser212Asn)	EGFL6 (S212N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087632	NM_015507.4(EGFL6):c.674T>C (p.Met225Thr)	EGFL6 (M225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087633	NM_015507.4(EGFL6):c.773G>A (p.Cys258Tyr)	EGFL6 (C258Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255329	NM_015507.4(EGFL6):c.803A>G (p.Glu268Gly)	EGFL6 (E268G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087634	NM_015507.4(EGFL6):c.872A>G (p.Lys291Arg)	EGFL6 (K291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087620	NM_015507.4(EGFL6):c.1033G>T (p.Asp345Tyr)	EGFL6 (D345Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553583	NM_015507.4(EGFL6):c.1034A>G (p.Asp345Gly)	EGFL6 (D345G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087621	NM_015507.4(EGFL6):c.1124G>A (p.Gly375Asp)	EGFL6 (G375D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400034	NM_015507.4(EGFL6):c.1132G>A (p.Gly378Ser)	EGFL6 (G378S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274727	NM_015507.4(EGFL6):c.1216C>T (p.His406Tyr)	EGFL6 (H406Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208498	NM_015507.4(EGFL6):c.1277G>A (p.Arg426Gln)	EGFL6 (R426Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519551	NM_015507.4(EGFL6):c.1343G>A (p.Arg448Gln)	EGFL6 (R448Q +1 more)	Single nucleotide variant (missense variant)	Exstrophy-epispadias complex +1 more	GUncertain significance
Select item 2205954	NM_015507.4(EGFL6):c.1414G>A (p.Gly472Arg)	EGFL6 (G472R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214800	NM_015507.4(EGFL6):c.1436G>C (p.Arg479Pro)	EGFL6 (R479P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087625	NM_015507.4(EGFL6):c.1472G>C (p.Trp491Ser)	EGFL6 (W491S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472407	NM_015507.4(EGFL6):c.1537G>A (p.Asp513Asn)	EGFL6 (D514N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 28