"Ambry Genetics"[submitter] AND "NEDD4L"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2269115	NM_001144967.3(NEDD4L):c.11G>T (p.Gly4Val)	LOC130062568, NEDD4L (G4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227563	NM_001144967.3(NEDD4L):c.49-16225_49-16215del	NEDD4L	Deletion (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 640040	NM_001144967.3(NEDD4L):c.163A>G (p.Asn55Asp)	NEDD4L (N55D +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2266289	NM_001144967.3(NEDD4L):c.204+5G>C	NEDD4L	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 835269	NM_001144967.3(NEDD4L):c.568C>T (p.Leu190Phe)	NEDD4L (L182F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 860491	NM_001144967.3(NEDD4L):c.580C>T (p.Pro194Ser)	NEDD4L (P186S +2 more)	Single nucleotide variant (missense variant)	NEDD4L-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2489221	NM_001144967.3(NEDD4L):c.614A>C (p.Asn205Thr)	NEDD4L (N205T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1351841	NM_001144967.3(NEDD4L):c.685G>A (p.Val229Met)	NEDD4L (V108M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2255713	NM_001144967.3(NEDD4L):c.686T>C (p.Val229Ala)	NEDD4L (V108A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1143491	NM_001144967.3(NEDD4L):c.749G>A (p.Arg250His)	NEDD4L (R129H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 696898	NM_001144967.3(NEDD4L):c.815C>T (p.Pro272Leu)	NEDD4L (P151L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 663568	NM_001144967.3(NEDD4L):c.968G>C (p.Gly323Ala)	NEDD4L (G315A +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1919080	NM_001144967.3(NEDD4L):c.980G>T (p.Ser327Ile)	NEDD4L (S319I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 847387	NM_001144967.3(NEDD4L):c.1033G>A (p.Asp345Asn)	NEDD4L (D224N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2279211	NM_001144967.3(NEDD4L):c.1169G>T (p.Gly390Val)	NEDD4L (G249V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 848101	NM_001144967.3(NEDD4L):c.1279G>A (p.Gly427Arg)	NEDD4L (G306R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2273765	NM_001144967.3(NEDD4L):c.1354G>A (p.Val452Ile)	NEDD4L (V388I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 741709	NM_001144967.3(NEDD4L):c.1370C>T (p.Pro457Leu)	NEDD4L (P316L +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 965228	NM_001144967.3(NEDD4L):c.1396G>A (p.Val466Ile)	NEDD4L (V402I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2294520	NM_001144967.3(NEDD4L):c.1550A>G (p.Asp517Gly)	NEDD4L (D376G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1367453	NM_001144967.3(NEDD4L):c.1897C>T (p.Arg633Trp)	NEDD4L (R512W +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2322865	NM_001144967.3(NEDD4L):c.2121G>T (p.Leu707Phe)	NEDD4L (L699F +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 657604	NM_001144967.3(NEDD4L):c.2158G>T (p.Ala720Ser)	NEDD4L (A656S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 933443	NM_001144967.3(NEDD4L):c.2240A>G (p.Asn747Ser)	NEDD4L (N727S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2239623	NM_015277.5(NEDD4L):c.2367_2379del13	NEDD4L	Deletion	Inborn genetic diseases	GUncertain significance
Select item 663902	NM_001144967.3(NEDD4L):c.2614G>A (p.Gly872Ser)	NEDD4L (G844S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign

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Items: 26