ClinVar for Gene (Select 23327) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370922	NM_001144967.3(NEDD4L):c.1000C>A (p.Pro334Thr)	NEDD4L (P213T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370506	NM_001144967.3(NEDD4L):c.1855G>C (p.Glu619Gln)	NEDD4L (E478Q +6 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GLikely pathogenic
Select item 3368555	NM_001144967.3(NEDD4L):c.1919G>C (p.Arg640Thr)	NEDD4L (R499T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367389	NM_001144967.3(NEDD4L):c.1460C>A (p.Ser487Tyr)	NEDD4L (S346Y +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367372	NM_001144967.3(NEDD4L):c.2296A>G (p.Asn766Asp)	NEDD4L (N625D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364263	NM_001144967.3(NEDD4L):c.1816A>G (p.Lys606Glu)	NEDD4L (K465E +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357214	NM_001144967.3(NEDD4L):c.2792G>C (p.Gly931Ala)	NEDD4L (G790A +6 more)	Single nucleotide variant (missense variant)	NEDD4L-related disorder	GUncertain significance
Select item 3338987	NM_001144967.3(NEDD4L):c.877C>T (p.Pro293Ser)	NEDD4L (P172S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3299150	NM_001144967.3(NEDD4L):c.19G>A (p.Glu7Lys)	LOC130062568, NEDD4L (E7K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242803	NC_000018.9:g.(?_55335641)_(55711960_?)dup	ATP8B1, NEDD4L	Duplication	not provided	GUncertain significance
Select item 3242802	NC_000018.9:g.(?_55711893)_(56063501_?)del	NEDD4L	Deletion	not provided	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 3190737	NM_001144967.3(NEDD4L):c.565G>C (p.Glu189Gln)	NEDD4L (E181Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190728	NM_001144967.3(NEDD4L):c.2147T>A (p.Val716Asp)	NEDD4L (V595D +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190721	NM_001144967.3(NEDD4L):c.2031C>G (p.Asn677Lys)	NEDD4L (N556K +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190708	NM_001144967.3(NEDD4L):c.1604A>G (p.His535Arg)	NEDD4L (H507R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190703	NM_001144967.3(NEDD4L):c.1417A>G (p.Thr473Ala)	NEDD4L (T332A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 3032275	NM_001144967.3(NEDD4L):c.1101T>C (p.Thr367=)	NEDD4L	Single nucleotide variant (synonymous variant +1 more)	NEDD4L-related disorder	GLikely benign
Select item 3031517	NM_001144967.3(NEDD4L):c.1089G>A (p.Ala363=)	NEDD4L	Single nucleotide variant (synonymous variant +1 more)	NEDD4L-related disorder	GLikely benign
Select item 3031429	NM_001144967.3(NEDD4L):c.1311C>T (p.Ile437=)	NEDD4L	Single nucleotide variant (synonymous variant)	NEDD4L-related disorder	GLikely benign
Select item 3021779	NM_001144967.3(NEDD4L):c.814-6T>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3005729	NM_001144967.3(NEDD4L):c.1279G>C (p.Gly427Arg)	NEDD4L (G286R +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 3000280	NM_001144967.3(NEDD4L):c.479A>T (p.Asp160Val)	NEDD4L (D160V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998641	NM_001144967.3(NEDD4L):c.2265A>G (p.Glu755=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998177	NM_001144967.3(NEDD4L):c.2548-13A>G	NEDD4L	Single nucleotide variant (intron variant)	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 2995879	NM_001144967.3(NEDD4L):c.1405G>A (p.Ala469Thr)	NEDD4L (A348T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992525	NM_001144967.3(NEDD4L):c.343C>T (p.Leu115Phe)	NEDD4L, LOC126862763 (L107F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2992303	NM_001144967.3(NEDD4L):c.1833+7_1833+9del	NEDD4L	Deletion (intron variant)	not provided	GLikely benign
Select item 2982552	NM_001144967.3(NEDD4L):c.1159C>T (p.Leu387=)	NEDD4L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981099	NM_001144967.3(NEDD4L):c.1621T>C (p.Ser541Pro)	NEDD4L (S533P +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980861	NM_001144967.3(NEDD4L):c.1578A>T (p.Glu526Asp)	NEDD4L (E405D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975258	NM_001144967.3(NEDD4L):c.349-13T>C	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 2973376	NM_001144967.3(NEDD4L):c.2256+19C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973221	NM_001144967.3(NEDD4L):c.2655+10G>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970793	NM_001144967.3(NEDD4L):c.1474C>T (p.His492Tyr)	NEDD4L (H472Y +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969355	NM_001144967.3(NEDD4L):c.2826-3C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2965091	NM_001144967.3(NEDD4L):c.961T>G (p.Ser321Ala)	NEDD4L (S200A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964767	NM_001144967.3(NEDD4L):c.778GAGCCC[3] (p.Pro263_Ser264insGluPro)	NEDD4L	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2961586	NM_001144967.3(NEDD4L):c.606A>G (p.Lys202=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960991	NM_001144967.3(NEDD4L):c.690C>G (p.Ser230=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959590	NM_001144967.3(NEDD4L):c.2826-20A>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919384	NM_001144967.3(NEDD4L):c.2427-20T>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917782	NM_001144967.3(NEDD4L):c.2602A>G (p.Ile868Val)	NEDD4L (I840V +6 more)	Single nucleotide variant (missense variant)	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 2911881	NM_001144967.3(NEDD4L):c.2634C>A (p.Pro878=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906825	NM_001144967.3(NEDD4L):c.982_983delinsAT (p.Ser328Ile)	NEDD4L (S320I +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2904865	NM_001144967.3(NEDD4L):c.243+18T>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902006	NM_001144967.3(NEDD4L):c.783C>T (p.Pro261=)	NEDD4L	Single nucleotide variant (synonymous 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 2901617	NM_001144967.3(NEDD4L):c.447A>G (p.Lys149=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901091	NM_001144967.3(NEDD4L):c.966T>C (p.Asn322=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901053	NM_001144967.3(NEDD4L):c.1834-16T>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900085	NM_001144967.3(NEDD4L):c.1020A>T (p.Ser340=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895421	NM_001144967.3(NEDD4L):c.739C>T (p.Arg247Trp)	NEDD4L (R126W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893824	NM_001144967.3(NEDD4L):c.1253T>C (p.Met418Thr)	NEDD4L (M277T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2890629	NM_001144967.3(NEDD4L):c.2631C>T (p.His877=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885508	NM_001144967.3(NEDD4L):c.474T>A (p.Gly158=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883555	NM_001144967.3(NEDD4L):c.909C>T (p.Ser303=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881978	NM_001144967.3(NEDD4L):c.1952A>G (p.Glu651Gly)	NEDD4L (E587G +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2879716	NM_001144967.3(NEDD4L):c.991-19T>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2878582	NM_001144967.3(NEDD4L):c.808C>T (p.Pro270Ser)	NEDD4L (P270S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874635	NM_001144967.3(NEDD4L):c.1654-17C>T	NEDD4L	Single nucleotide variant (intron variant)	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 2870260	NM_001144967.3(NEDD4L):c.1488G>C (p.Gln496His)	NEDD4L (Q476H +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866804	NM_001144967.3(NEDD4L):c.1904T>C (p.Ile635Thr)	NEDD4L (I514T +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2863472	NM_001144967.3(NEDD4L):c.1654-1G>A	NEDD4L	Single nucleotide variant (splice acceptor 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 2861866	NM_001144967.3(NEDD4L):c.370C>G (p.Arg124Gly)	NEDD4L (R3G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859587	NM_001144967.3(NEDD4L):c.1399C>T (p.Arg467Cys)	NEDD4L (R403C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855383	NM_001144967.3(NEDD4L):c.2063+16C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852411	NM_001144967.3(NEDD4L):c.2426+8T>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852072	NM_001144967.3(NEDD4L):c.2016C>A (p.Ser672=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849816	NM_001144967.3(NEDD4L):c.2826-16T>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849763	NM_001144967.3(NEDD4L):c.786G>C (p.Glu262Asp)	NEDD4L (E262D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847231	NM_001144967.3(NEDD4L):c.1302C>T (p.Asn434=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841424	NM_001144967.3(NEDD4L):c.2825+11A>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839677	NM_001144967.3(NEDD4L):c.2752+7A>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838900	NM_001144967.3(NEDD4L):c.48+3G>A	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2838415	NM_001144967.3(NEDD4L):c.2048T>G (p.Phe683Cys)	NEDD4L (F562C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836099	NM_001144967.3(NEDD4L):c.2061C>T (p.Ala687=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832660	NM_001144967.3(NEDD4L):c.205-20C>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832340	NM_001144967.3(NEDD4L):c.2303C>T (p.Pro768Leu)	NEDD4L (P627L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830639	NM_001144967.3(NEDD4L):c.1774C>T (p.Pro592Ser)	NEDD4L (P451S +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2821572	NM_001144967.3(NEDD4L):c.2598T>C (p.His866=)	NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816560	NM_001144967.3(NEDD4L):c.2427-13T>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814481	NM_001144967.3(NEDD4L):c.1749C>G (p.Asn583Lys)	NEDD4L (N442K +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2812888	NM_001144967.3(NEDD4L):c.298-11C>A	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812050	NM_001144967.3(NEDD4L):c.1991C>G (p.Ala664Gly)	NEDD4L (A636G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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