NEDD4L[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1272445	NM_001144967.3(NEDD4L):c.48+251G>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233056	NM_001144967.3(NEDD4L):c.48+263C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2648758	NM_001144967.3(NEDD4L):c.48+46726_48+46730del	NEDD4L	Deletion (intron variant)	not provided	GBenign
Select item 1227489	NM_001144967.3(NEDD4L):c.49-16691G>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222080	NM_001144967.3(NEDD4L):c.49-16583A>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254331	NM_001144967.3(NEDD4L):c.49-16267A>G	NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 225996	NM_001144967.3(NEDD4L):c.49-16229G>A	NEDD4L	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
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 1287421	NM_001144967.3(NEDD4L):c.49-16185C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223490	NM_001144967.3(NEDD4L):c.49-16047C>A	NEDD4L	Single nucleotide variant (intron 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 1229785	NM_001144967.3(NEDD4L):c.49-270A>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212980	NM_001144967.3(NEDD4L):c.49-203C>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183484	NM_001144967.3(NEDD4L):c.49-124C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178852	NM_001144967.3(NEDD4L):c.49-54G>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2010268	NM_001144967.3(NEDD4L):c.49-18T>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1452095	NM_001144967.3(NEDD4L):c.49-16G>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1580445	NM_001144967.3(NEDD4L):c.49-11_49-9del	NEDD4L	Deletion (intron variant)	not provided	GLikely benign
Select item 2110033	NM_001144967.3(NEDD4L):c.49-11C>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569933	NM_001144967.3(NEDD4L):c.49-11C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1610362	NM_001144967.3(NEDD4L):c.49-8_49-6del	NEDD4L	Deletion (intron variant)	not provided	GLikely benign
Select item 696492	NM_001144967.3(NEDD4L):c.49-6T>C	NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7 +1 more	GBenign/Likely benign
Select item 1381856	NM_001144967.3(NEDD4L):c.49G>A (p.Gly17Arg)	NEDD4L (G9R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 839452	NM_001144967.3(NEDD4L):c.58C>T (p.Arg20Cys)	NEDD4L (R20C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 963353	NM_001144967.3(NEDD4L):c.59G>A (p.Arg20His)	NEDD4L (R12H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2002919	NM_001144967.3(NEDD4L):c.83C>T (p.Ser28Phe)	NEDD4L (S20F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1145674	NM_001144967.3(NEDD4L):c.96C>T (p.Leu32=)	NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 833864	NM_001144967.3(NEDD4L):c.97G>A (p.Ala33Thr)	NEDD4L (A33T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2097618	NM_001144967.3(NEDD4L):c.101A>G (p.Lys34Arg)	NEDD4L (K26R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1045195	NM_001144967.3(NEDD4L):c.121A>G (p.Ser41Gly)	NEDD4L (S33G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 699597	NM_001144967.3(NEDD4L):c.122+7T>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 417015	NM_001144967.3(NEDD4L):c.122+9G>C	NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2086948	NM_001144967.3(NEDD4L):c.122+13T>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557383	NM_001144967.3(NEDD4L):c.122+15T>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950541	NM_001144967.3(NEDD4L):c.122+17T>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208830	NM_001144967.3(NEDD4L):c.122+154C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212934	NM_001144967.3(NEDD4L):c.122+292G>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1295329	NM_001144967.3(NEDD4L):c.123-237G>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295328	NM_001144967.3(NEDD4L):c.123-236T>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2107919	NM_001144967.3(NEDD4L):c.123-16A>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604864	NM_001144967.3(NEDD4L):c.123-3C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3299151	NM_001144967.3(NEDD4L):c.123T>C (p.Ser41=)	NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2110262	NM_001144967.3(NEDD4L):c.127C>T (p.Pro43Ser)	NEDD4L (P35S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3001227	NM_001144967.3(NEDD4L):c.128C>T (p.Pro43Leu)	NEDD4L (P35L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1114793	NM_001144967.3(NEDD4L):c.129G>A (p.Pro43=)	NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 785310	NM_001144967.3(NEDD4L):c.129G>T (p.Pro43=)	NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2783948	NM_001144967.3(NEDD4L):c.134T>C (p.Val45Ala)	NEDD4L (V45A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 833985	NM_001144967.3(NEDD4L):c.137A>G (p.Lys46Arg)	NEDD4L (K46R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1089808	NM_001144967.3(NEDD4L):c.145T>C (p.Leu49=)	NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1060057	NM_001144967.3(NEDD4L):c.150_164dup (p.Val51_Asn55dup)	NEDD4L	Duplication (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 646937	NM_001144967.3(NEDD4L):c.151G>A (p.Val51Ile)	NEDD4L (V43I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2996340	NM_001144967.3(NEDD4L):c.155C>T (p.Ala52Val)	NEDD4L (A52V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2161477	NM_001144967.3(NEDD4L):c.156G>A (p.Ala52=)	NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2873433	NM_001144967.3(NEDD4L):c.157G>A (p.Asp53Asn)	NEDD4L (D45N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 1564221	NM_001144967.3(NEDD4L):c.172C>T (p.Leu58Phe)	NEDD4L (L50F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1134267	NM_001144967.3(NEDD4L):c.183C>T (p.Val61=)	NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1429822	NM_001144967.3(NEDD4L):c.191A>C (p.Lys64Thr)	NEDD4L (K56T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2733606	NM_001144967.3(NEDD4L):c.194C>A (p.Thr65Lys)	NEDD4L (T65K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2785532	NM_001144967.3(NEDD4L):c.195_197del (p.Ile66del)	NEDD4L (I58del +1 more)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2266289	NM_001144967.3(NEDD4L):c.204+5G>C	NEDD4L	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1159815	NM_001144967.3(NEDD4L):c.204+9C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 698354	NM_001144967.3(NEDD4L):c.204+10G>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1458017	NM_001144967.3(NEDD4L):c.204+12T>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265164	NM_001144967.3(NEDD4L):c.204+275T>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295331	NM_001144967.3(NEDD4L):c.205-162C>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2832660	NM_001144967.3(NEDD4L):c.205-20C>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778678	NM_001144967.3(NEDD4L):c.205-4C>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1408419	NM_001144967.3(NEDD4L):c.243+3_243+6del	NEDD4L	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1948841	NM_001144967.3(NEDD4L):c.243+11C>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649612	NM_001144967.3(NEDD4L):c.243+12A>G	NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7 +1 more	GLikely benign
Select item 2127646	NM_001144967.3(NEDD4L):c.243+15G>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904865	NM_001144967.3(NEDD4L):c.243+18T>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202520	NM_001144967.3(NEDD4L):c.244-149C>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272029	NM_001144967.3(NEDD4L):c.244-42G>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287167	NM_001144967.3(NEDD4L):c.244-34C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2037588	NM_001144967.3(NEDD4L):c.244-10T>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754516	NM_001144967.3(NEDD4L):c.244-9T>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101254	NM_001144967.3(NEDD4L):c.244-5T>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975087	NM_001144967.3(NEDD4L):c.244-4A>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022882	NM_001144967.3(NEDD4L):c.244-4A>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 695371	NM_001144967.3(NEDD4L):c.252A>G (p.Pro84=)	NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1804500	NM_001144967.3(NEDD4L):c.264A>T (p.Arg88Ser)	NEDD4L (R80S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1109433	NM_001144967.3(NEDD4L):c.270A>G (p.Leu90=)	NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 638301	NM_001144967.3(NEDD4L):c.271T>A (p.Phe91Ile)	NEDD4L (F91I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 700055	NM_001144967.3(NEDD4L):c.279A>G (p.Val93=)	NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 417005	NM_001144967.3(NEDD4L):c.285C>T (p.Asp95=)	NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1187988	NM_001144967.3(NEDD4L):c.297+17A>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1215403	NM_001144967.3(NEDD4L):c.297+175A>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293125	NM_001144967.3(NEDD4L):c.297+209G>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2648759	NM_001144967.3(NEDD4L):c.297+3908G>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2648760	NM_001144967.3(NEDD4L):c.297+3917G>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2648761	NM_001144967.3(NEDD4L):c.297+4116C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2648762	NM_001144967.3(NEDD4L):c.297+4347C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 157414	NM_001144967.3(NEDD4L):c.297+16701_297+17823del	NEDD4L	Deletion (intron variant)	Normal pregnancy	Gnot provided
Select item 592171	t(X;18)(p21.1;q21.31)	NEDD4L	Translocation	Periventricular nodular heterotopia 7	GLikely pathogenic
Select item 1198150	NM_001144967.3(NEDD4L):c.349-200T>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251833	NM_001144967.3(NEDD4L):c.349-179A>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1974563	NM_001144967.3(NEDD4L):c.349-18A>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign

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