ClinVar for MedGen (Select 934636) - ClinVar

Links from MedGen

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338274	NM_001144967.3(NEDD4L):c.764T>C (p.Ile255Thr)	NEDD4L (I134T +2 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 3235200	NM_001144967.3(NEDD4L):c.2717C>T (p.Ser906Leu)	NEDD4L (S765L +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 3068565	NM_001144967.3(NEDD4L):c.1706A>C (p.His569Pro)	NEDD4L (H428P +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GUncertain significance
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 2672208	NM_001144967.3(NEDD4L):c.1258-6A>G	NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7 +1 more	GConflicting classifications of pathogenicity
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 2500065	NM_001144967.3(NEDD4L):c.1107G>A (p.Thr369=)	NEDD4L	Single nucleotide variant (synonymous variant +1 more)	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 1971689	NM_001144967.3(NEDD4L):c.638A>G (p.Asn213Ser)	NEDD4L (N205S +2 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GUncertain significance
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 1684293	NM_001144967.3(NEDD4L):c.814-6T>A	NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7	GLikely pathogenic
Select item 1679631	NM_001144967.3(NEDD4L):c.1576-4G>T	NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1674177	NM_001144967.3(NEDD4L):c.1446A>G (p.Pro482=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1669442	NM_001144967.3(NEDD4L):c.1833+17T>C	NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1650382	NM_001144967.3(NEDD4L):c.410+14G>T	NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	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 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 1622605	NM_001144967.3(NEDD4L):c.2353-19T>C	NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7 +1 more	GLikely benign
Select item 1620360	NM_001144967.3(NEDD4L):c.449T>C (p.Met150Thr)	NEDD4L (M142T +2 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1614701	NM_001144967.3(NEDD4L):c.2488-20del	NEDD4L	Deletion (intron variant)	Periventricular nodular heterotopia 7 +1 more	GBenign/Likely benign
Select item 1600460	NM_001144967.3(NEDD4L):c.2488-9_2488-8del	NEDD4L	Deletion (intron variant)	not provided +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 1569933	NM_001144967.3(NEDD4L):c.49-11C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1564308	NM_001144967.3(NEDD4L):c.1575+13C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1563276	NM_001144967.3(NEDD4L):c.1768-12T>C	NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1530834	NM_001144967.3(NEDD4L):c.349-9del	NEDD4L	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1522497	NM_001144967.3(NEDD4L):c.1676A>G (p.His559Arg)	NEDD4L (H559R +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GUncertain significance
Select item 1387641	NM_001144967.3(NEDD4L):c.1715A>G (p.Lys572Arg)	NEDD4L (K508R +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1368620	NM_001144967.3(NEDD4L):c.1132G>A (p.Val378Met)	NEDD4L (V257M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1333793	NM_001144967.3(NEDD4L):c.875C>T (p.Pro292Leu)	NEDD4L (P171L +2 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 1301722	NM_001144967.3(NEDD4L):c.847G>C (p.Ala283Pro)	NEDD4L (A162P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1244141	NM_001144967.3(NEDD4L):c.2488-8del	NEDD4L	Deletion (intron variant)	Periventricular nodular heterotopia 7 +1 more	GBenign
Select item 1191612	NM_001144967.3(NEDD4L):c.2488-8dup	NEDD4L	Duplication (intron variant)	Periventricular nodular heterotopia 7 +1 more	GBenign/Likely 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 1155419	NM_001144967.3(NEDD4L):c.2202A>G (p.Pro734=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1113735	NM_001144967.3(NEDD4L):c.348+9A>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	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 1046638	NM_001144967.3(NEDD4L):c.1607T>G (p.Met536Arg)	NEDD4L (M395R +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032676	NM_001144967.3(NEDD4L):c.754C>T (p.Arg252Cys)	NEDD4L (R131C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031161	NM_001144967.3(NEDD4L):c.719T>A (p.Ile240Asn)	NEDD4L (I232N +2 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 1022178	NM_001144967.3(NEDD4L):c.2465A>C (p.Lys822Thr)	NEDD4L (K681T +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1001498	NM_001144967.3(NEDD4L):c.1877A>C (p.Asn626Thr)	NEDD4L (N485T +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GUncertain significance
Select item 973251	NM_001144967.3(NEDD4L):c.2063C>G (p.Thr688Arg)	NEDD4L (T547R +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 966428	NM_001144967.3(NEDD4L):c.2873G>A (p.Arg958Gln)	NEDD4L (R837Q +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GUncertain significance
Select item 964850	NM_001144967.3(NEDD4L):c.534C>G (p.Asp178Glu)	NEDD4L (D170E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 960577	NM_001144967.3(NEDD4L):c.2205T>G (p.Phe735Leu)	NEDD4L (F614L +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 958778	NM_001144967.3(NEDD4L):c.1691C>A (p.Thr564Lys)	NEDD4L (T423K +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 950223	NM_001144967.3(NEDD4L):c.1457A>G (p.Asn486Ser)	NEDD4L (N478S +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 871595	NM_001144967.3(NEDD4L):c.2665C>T (p.Leu889Phe)	NEDD4L (L768F +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GUncertain significance
Select item 864862	NM_001144967.3(NEDD4L):c.623G>A (p.Arg208Gln)	NEDD4L (R208Q +2 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +2 more	GPathogenic/Likely pathogenic
Select item 858486	NM_001144967.3(NEDD4L):c.812A>C (p.Glu271Ala)	NEDD4L (E271A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 854647	NM_001144967.3(NEDD4L):c.411-6G>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 849775	NM_001144967.3(NEDD4L):c.2273A>G (p.Asn758Ser)	NEDD4L (N694S +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GUncertain significance
Select item 848101	NM_001144967.3(NEDD4L):c.1279G>A (p.Gly427Arg)	NEDD4L (G306R +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +2 more	GConflicting classifications of pathogenicity
Select item 847387	NM_001144967.3(NEDD4L):c.1033G>A (p.Asp345Asn)	NEDD4L (D224N +2 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +2 more	GConflicting classifications of pathogenicity
Select item 844193	NM_001144967.3(NEDD4L):c.1483A>G (p.Thr495Ala)	NEDD4L (T431A +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GUncertain significance
Select item 839125	NM_001144967.3(NEDD4L):c.1882T>A (p.Phe628Ile)	NEDD4L (F600I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 833561	NM_001144967.3(NEDD4L):c.349-3C>A	NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 813781	NM_001144967.3(NEDD4L):c.914A>G (p.Gln305Arg)	NEDD4L (Q184R +2 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 812181	NM_001144967.3(NEDD4L):c.2245A>G (p.Met749Val)	NEDD4L (M729V +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GLikely pathogenic
Select item 794291	NM_001144967.3(NEDD4L):c.2676C>T (p.Ala892=)	NEDD4L	Single nucleotide variant (synonymous variant)	Periventricular nodular heterotopia 7 +1 more	GLikely benign
Select item 718118	NM_001144967.3(NEDD4L):c.2186-10C>T	NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7 +1 more	GLikely benign
Select item 702408	NM_001144967.3(NEDD4L):c.990+8G>C	NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7 +1 more	GLikely benign
Select item 700457	NM_001144967.3(NEDD4L):c.2307T>C (p.Thr769=)	NEDD4L	Single nucleotide variant (synonymous variant)	Periventricular nodular heterotopia 7 +1 more	GLikely benign
Select item 697932	NM_001144967.3(NEDD4L):c.2475C>T (p.Asn825=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 697804	NM_001144967.3(NEDD4L):c.1403G>A (p.Arg468Gln)	NEDD4L (R440Q +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GLikely benign
Select item 697211	NM_001144967.3(NEDD4L):c.2040C>T (p.Tyr680=)	NEDD4L	Single nucleotide variant (synonymous variant)	Periventricular nodular heterotopia 7 +1 more	GLikely benign
Select item 696712	NM_001144967.3(NEDD4L):c.2542C>T (p.Leu848=)	NEDD4L	Single nucleotide variant (synonymous variant)	Periventricular nodular heterotopia 7 +1 more	GBenign/Likely 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 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 661947	NM_001144967.3(NEDD4L):c.871C>G (p.Leu291Val)	NEDD4L (L291V +2 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GUncertain significance
Select item 658053	NM_001144967.3(NEDD4L):c.1523C>T (p.Ala508Val)	NEDD4L (A387V +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 654299	NM_001144967.3(NEDD4L):c.1535G>A (p.Arg512Gln)	NEDD4L (R391Q +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 649977	NM_001144967.3(NEDD4L):c.1654-10C>G	NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 649335	NM_001144967.3(NEDD4L):c.740G>A (p.Arg247Gln)	NEDD4L (R126Q +2 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GUncertain significance
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 598222	NM_001144967.3(NEDD4L):c.965A>G (p.Asn322Ser)	NEDD4L (N322S +2 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GUncertain significance
Select item 592171	t(X;18)(p21.1;q21.31)	NEDD4L	Translocation	Periventricular nodular heterotopia 7	GLikely pathogenic
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 451267	NM_001144967.3(NEDD4L):c.1316C>T (p.Pro439Leu)	NEDD4L (P419L +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GUncertain significance
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 417012	NM_001144967.3(NEDD4L):c.2753-4C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 417006	NM_001144967.3(NEDD4L):c.813+5G>A	NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 417003	NM_001144967.3(NEDD4L):c.535T>A (p.Ser179Thr)	NEDD4L (S179T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 417001	NM_001144967.3(NEDD4L):c.698C>T (p.Ser233Leu)	NEDD4L (S233L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 392668	NM_001144967.3(NEDD4L):c.2093A>G (p.Asn698Ser)	NEDD4L (N678S +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GConflicting classifications of pathogenicity
Select item 241027	NM_001144967.3(NEDD4L):c.2752+6C>T	NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7 +1 more	GBenign/Likely benign
Select item 225193	NM_001144967.3(NEDD4L):c.2036A>G (p.Tyr679Cys)	NEDD4L (Y679C +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GPathogenic
Select item 225192	NM_001144967.3(NEDD4L):c.2082G>T (p.Gln694His)	NEDD4L (Q694H +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7 +1 more	GPathogenic
Select item 225191	NM_001144967.3(NEDD4L):c.2677G>A (p.Glu893Lys)	NEDD4L (E893K +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 225190	NM_001144967.3(NEDD4L):c.2690G>A (p.Arg897Gln)	NEDD4L (R897Q +6 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 98