Related gene-specific medical variations for Gene (Select 23327) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065173	NM_001144967.3(NEDD4L):c.1126-1G>A	NEDD4L	Single nucleotide variant (splice acceptor variant +1 more)	Periventricular nodular heterotopia 7	GLikely pathogenic
Select item 3021579	NM_001144967.3(NEDD4L):c.48+11C>T	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014075	NM_001144967.3(NEDD4L):c.39C>T (p.Ser13=)	LOC130062568, NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005851	NM_001144967.3(NEDD4L):c.21G>T (p.Glu7Asp)	LOC130062568, NEDD4L (E7D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2992525	NM_001144967.3(NEDD4L):c.343C>T (p.Leu115Phe)	LOC126862763, NEDD4L (L107F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2914098	NM_001144967.3(NEDD4L):c.298-17T>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901938	NM_001144967.3(NEDD4L):c.348+6G>A	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2862346	NM_001144967.3(NEDD4L):c.40G>A (p.Glu14Lys)	LOC130062568, NEDD4L (E14K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838900	NM_001144967.3(NEDD4L):c.48+3G>A	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2812888	NM_001144967.3(NEDD4L):c.298-11C>A	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804752	NM_001144967.3(NEDD4L):c.298-5A>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756293	NM_001144967.3(NEDD4L):c.2T>C (p.Met1Thr)	LOC130062568, NEDD4L (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2755459	NM_001144967.3(NEDD4L):c.24G>A (p.Pro8=)	LOC130062568, NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723747	NM_001144967.3(NEDD4L):c.6G>A (p.Ala2=)	LOC130062568, NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685060	GRCh37/hg19 18q21.31(chr18:55668092-55905883)x4	NEDD4L	Copy number gain	not provided	GUncertain significance
Select item 2672201	NM_001144967.3(NEDD4L):c.2614G>C (p.Gly872Arg)	NEDD4L (G731R +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 2582424	NM_001144967.3(NEDD4L):c.2563C>T (p.Leu855Phe)	NEDD4L (L714F +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 2434320	NM_001144967.3(NEDD4L):c.1393C>T (p.Pro465Ser)	NEDD4L (P324S +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 2430079	NM_001144967.3(NEDD4L):c.2399C>A (p.Thr800Lys)	NEDD4L (T659K +6 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
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 2081930	NM_001144967.3(NEDD4L):c.27C>T (p.Val9=)	LOC130062568, NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2041752	NM_001144967.3(NEDD4L):c.48+14C>G	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1968913	NM_001144967.3(NEDD4L):c.39C>G (p.Ser13=)	LOC130062568, NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926151	NM_001144967.3(NEDD4L):c.342C>T (p.His114=)	LOC126862763, NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1920939	NM_001144967.3(NEDD4L):c.15C>T (p.Leu5=)	LOC130062568, NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1701658	NM_001144967.3(NEDD4L):c.49-3119A>G	NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 1696711	NM_001144967.3(NEDD4L):c.572C>G (p.Pro191Arg)	NEDD4L (P183R +2 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 1637451	NM_001144967.3(NEDD4L):c.48+14C>T	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7 +1 more	GBenign/Likely benign
Select item 1598162	NM_001144967.3(NEDD4L):c.48+14C>A	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1581459	NM_001144967.3(NEDD4L):c.48+11C>G	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1553175	NM_001144967.3(NEDD4L):c.348+18T>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1499986	NM_001144967.3(NEDD4L):c.48+5G>A	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1468009	NM_001144967.3(NEDD4L):c.48+6T>C	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1424223	NM_001144967.3(NEDD4L):c.22C>T (p.Pro8Ser)	LOC130062568, NEDD4L (P8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413193	NM_001144967.3(NEDD4L):c.348G>A (p.Pro116=)	LOC126862763, NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1368347	NM_001144967.3(NEDD4L):c.347C>T (p.Pro116Leu)	LOC126862763, NEDD4L (P108L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1359734	NM_001144967.3(NEDD4L):c.328G>A (p.Val110Met)	LOC126862763, NEDD4L (V102M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1304106	NM_001144967.3(NEDD4L):c.338G>T (p.Ser113Ile)	LOC126862763, NEDD4L (S105I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1301721	NM_001144967.3(NEDD4L):c.23C>T (p.Pro8Leu)	LOC130062568, NEDD4L (P8L)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 1282456	NM_001144967.3(NEDD4L):c.-26C>T	LOC130062568, NEDD4L	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1259629	NM_001144967.3(NEDD4L):c.-227C>T	LOC130062568, NEDD4L	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1254207	NM_001144967.3(NEDD4L):c.348+100A>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252606	NM_001144967.3(NEDD4L):c.48+31C>T	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251004	NM_001144967.3(NEDD4L):c.-275T>G	LOC130062568, NEDD4L	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1250867	NM_001144967.3(NEDD4L):c.-46C>T	LOC130062568, NEDD4L	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1236323	NM_001144967.3(NEDD4L):c.48+81C>G	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235847	NM_001144967.3(NEDD4L):c.348+66T>C	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228499	NM_001144967.3(NEDD4L):c.48+28A>C	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200070	NM_001144967.3(NEDD4L):c.348+267C>A	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184349	NM_001144967.3(NEDD4L):c.1114G>A (p.Glu372Lys)	NEDD4L (E251K +2 more)	Single nucleotide variant (missense variant +1 more)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 1137637	NM_001144967.3(NEDD4L):c.48+7G>A	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1113735	NM_001144967.3(NEDD4L):c.348+9A>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7 +1 more	GLikely benign
Select item 1108040	NM_001144967.3(NEDD4L):c.306C>T (p.Asp102=)	LOC126862763, NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1098657	NM_001144967.3(NEDD4L):c.1888G>C (p.Glu630Gln)	NEDD4L (E489Q +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 1084035	NM_001144967.3(NEDD4L):c.38C>G (p.Ser13Cys)	LOC130062568, NEDD4L (S13C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1079424	NM_001144967.3(NEDD4L):c.42A>G (p.Glu14=)	NEDD4L, LOC130062568	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1064272	NC_000018.9:g.(?_55710610)_56069772del	NEDD4L	Deletion	not provided	GUncertain significance
Select item 1059466	NM_001144967.3(NEDD4L):c.327C>A (p.Asp109Glu)	LOC126862763, NEDD4L (D101E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1023433	NM_001144967.3(NEDD4L):c.337A>T (p.Ser113Cys)	LOC126862763, NEDD4L (S105C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1007296	NM_001144967.3(NEDD4L):c.298-4A>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 962046	NM_001144967.3(NEDD4L):c.29A>G (p.Tyr10Cys)	LOC130062568, NEDD4L (Y10C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 944551	NM_001144967.3(NEDD4L):c.328G>C (p.Val110Leu)	LOC126862763, NEDD4L (V102L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 930380	NM_001144967.3(NEDD4L):c.123-23683G>A	NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 697773	NM_001144967.3(NEDD4L):c.327C>T (p.Asp109=)	LOC126862763, NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 697172	NM_001144967.3(NEDD4L):c.348+10G>T	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 695592	NM_001144967.3(NEDD4L):c.13C>T (p.Leu5Phe)	LOC130062568, NEDD4L (L5F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 686644	GRCh37/hg19 18q21.31(chr18:56018446-56116713)x3	NEDD4L	Copy number gain	not provided	GUncertain significance
Select item 652682	NM_001144967.3(NEDD4L):c.318C>T (p.Gly106=)	LOC126862763, NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 548597	NM_001144967.3(NEDD4L):c.1088C>T (p.Ala363Val)	NEDD4L (A355V +2 more)	Single nucleotide variant (missense variant +1 more)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 157414	NM_001144967.3(NEDD4L):c.297+16701_297+17823del	NEDD4L	Deletion (intron variant)	Normal pregnancy	Gnot provided

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Items: 73