NEDD4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 3054297	NM_006154.4(NEDD4):c.2669T>C (p.Ile890Thr)	NEDD4 (I1237T +5 more)	Single nucleotide variant (missense variant +1 more)	NEDD4-related disorder	GLikely benign
Select item 2645370	NM_006154.4(NEDD4):c.2625T>A (p.Pro875=)	NEDD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2220439	NM_006154.4(NEDD4):c.2534A>G (p.Asn845Ser)	NEDD4 (N1264S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726444	NM_006154.4(NEDD4):c.2528-3T>C	NEDD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3190630	NM_006154.4(NEDD4):c.2503A>G (p.Met835Val)	NEDD4 (M1238V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 724027	NM_006154.4(NEDD4):c.2496G>A (p.Arg832=)	NEDD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2519503	NM_006154.4(NEDD4):c.2443A>G (p.Met815Val)	NEDD4 (M815V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608286	NM_006154.4(NEDD4):c.2386A>C (p.Asn796His)	NEDD4 (N1198H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721693	NM_006154.4(NEDD4):c.2355G>A (p.Val785=)	NEDD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 771911	NM_006154.4(NEDD4):c.2297A>G (p.Lys766Arg)	NEDD4 (K1113R +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2490881	NM_006154.4(NEDD4):c.2219G>A (p.Arg740Gln)	NEDD4 (R1143Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190615	NM_006154.4(NEDD4):c.2184C>G (p.Asn728Lys)	NEDD4 (N1075K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340025	NM_006154.4(NEDD4):c.2003C>G (p.Pro668Arg)	NEDD4 (P1015R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299184	NM_006154.4(NEDD4):c.1972C>T (p.Arg658Cys)	NEDD4 (R1077C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 748405	NM_006154.4(NEDD4):c.1953G>C (p.Leu651=)	NEDD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2264078	NM_006154.4(NEDD4):c.1915G>A (p.Gly639Ser)	NEDD4 (G1058S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353150	NM_006154.4(NEDD4):c.1766C>G (p.Ala589Gly)	NEDD4 (A1008G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190600	NM_006154.4(NEDD4):c.1519G>A (p.Glu507Lys)	NEDD4 (E909K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714556	NM_006154.4(NEDD4):c.1484-6C>T	NEDD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3190595	NM_006154.4(NEDD4):c.1456G>A (p.Asp486Asn)	NEDD4 (D905N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471171	NM_006154.4(NEDD4):c.1409A>G (p.Asn470Ser)	NEDD4 (N323S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2286889	NM_006154.4(NEDD4):c.1315T>G (p.Phe439Val)	NEDD4 (F292V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 723344	NM_006154.4(NEDD4):c.1287C>A (p.Val429=)	NEDD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2304046	NM_006154.4(NEDD4):c.1262G>T (p.Gly421Val)	NEDD4 (G274V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190585	NM_006154.4(NEDD4):c.1253T>C (p.Ile418Thr)	NEDD4 (I821T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 754231	NM_006154.4(NEDD4):c.1236G>A (p.Val412=)	NEDD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2309847	NM_006154.4(NEDD4):c.1228C>A (p.Gln410Lys)	NEDD4 (Q263K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212762	NM_006154.4(NEDD4):c.1205A>T (p.Gln402Leu)	NEDD4 (Q749L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718603	NM_006154.4(NEDD4):c.1139C>T (p.Thr380Ile)	NEDD4 (T782I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 747212	NM_006154.4(NEDD4):c.1137C>T (p.Pro379=)	NEDD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 762525	NM_006154.4(NEDD4):c.1119G>A (p.Thr373=)	NEDD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2519452	NM_006154.4(NEDD4):c.1085G>A (p.Gly362Glu)	NEDD4 (G215E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046622	NM_006154.4(NEDD4):c.1037C>T (p.Thr346Ile)	NEDD4 (T199I +5 more)	Single nucleotide variant (missense variant +1 more)	NEDD4-related disorder	GLikely benign
Select item 724546	NM_006154.4(NEDD4):c.1026+9T>C	NEDD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2322956	NM_006154.4(NEDD4):c.1018C>T (p.Leu340Phe)	NEDD4 (L340F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541098	NM_006154.4(NEDD4):c.1016C>T (p.Thr339Ile)	NEDD4 (T192I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545263	NM_006154.4(NEDD4):c.937G>A (p.Val313Met)	NEDD4 (V313M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 738174	NM_006154.4(NEDD4):c.861G>A (p.Pro287=)	NEDD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2517091	NM_006154.4(NEDD4):c.837C>G (p.Asn279Lys)	NEDD4 (N132K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190552	NM_006154.4(NEDD4):c.790G>A (p.Glu264Lys)	NEDD4 (E666K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190550	NM_006154.4(NEDD4):c.764A>G (p.Glu255Gly)	NEDD4 (E108G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190544	NM_006154.4(NEDD4):c.743G>A (p.Arg248Gln)	NEDD4 (R667Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262180	NM_006154.4(NEDD4):c.742C>T (p.Arg248Trp)	NEDD4 (R248W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269535	NM_006154.4(NEDD4):c.724C>T (p.Arg242Cys)	NEDD4 (R589C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291791	NM_006154.4(NEDD4):c.690T>A (p.Asp230Glu)	NEDD4 (D230E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190539	NM_006154.4(NEDD4):c.689A>G (p.Asp230Gly)	NEDD4 (D83G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190534	NM_006154.4(NEDD4):c.620C>T (p.Thr207Ile)	NEDD4 (T609I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351539	NM_006154.4(NEDD4):c.581C>T (p.Pro194Leu)	NEDD4 (P194L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624069	NM_006154.4(NEDD4):c.575C>T (p.Pro192Leu)	NEDD4 (P594L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337343	NM_006154.4(NEDD4):c.524T>C (p.Leu175Ser)	NEDD4 (L577S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 721694	NM_006154.4(NEDD4):c.505G>C (p.Glu169Gln)	NEDD4 (E169Q +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 796897	NM_006154.4(NEDD4):c.306C>T (p.Phe102=)	NEDD4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 786629	NM_006154.4(NEDD4):c.291+9332T>C	NEDD4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2579716	NM_006154.4(NEDD4):c.291+9303G>A	NEDD4 (D497N)	Single nucleotide variant (missense variant +2 more)	Autism	GUncertain significance
Select item 2544566	NM_006154.4(NEDD4):c.291+9285G>A	NEDD4 (G491R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 728237	NM_006154.4(NEDD4):c.291+9254A>G	NEDD4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 784322	NM_006154.4(NEDD4):c.291+9189T>C	NEDD4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2359972	NM_006154.4(NEDD4):c.291+9175G>A	NEDD4 (R454Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 710293	NM_006154.4(NEDD4):c.291+9166G>C	NEDD4 (G451A)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2410068	NM_006154.4(NEDD4):c.291+9121A>G	NEDD4 (N436S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3190519	NM_006154.4(NEDD4):c.291+9111A>G	NEDD4 (I433V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190517	NM_006154.4(NEDD4):c.291+9073C>A	NEDD4 (S420Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2324844	NM_006154.4(NEDD4):c.291+9061T>C	NEDD4 (M416T)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2411331	NM_006154.4(NEDD4):c.291+9051A>G	NEDD4 (I413V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2288530	NM_006154.4(NEDD4):c.291+8884C>T	NEDD4 (S357L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530011	NM_006154.4(NEDD4):c.291+8820G>A	NEDD4 (G336R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291644	NM_006154.4(NEDD4):c.291+8785A>G	NEDD4 (N324S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 776890	NM_006154.4(NEDD4):c.291+8736C>T	NEDD4 (H308Y)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 781174	NM_006154.4(NEDD4):c.291+8732T>A	NEDD4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2614151	NM_006154.4(NEDD4):c.291+8722C>T	NEDD4 (P303L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 783055	NM_006154.4(NEDD4):c.291+8666G>A	NEDD4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2248140	NM_006154.4(NEDD4):c.291+8617T>C	NEDD4 (I268T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190671	NM_006154.4(NEDD4):c.291+8514G>C	NEDD4 (D234H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540425	NM_006154.4(NEDD4):c.291+8452A>G	NEDD4 (N213S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 776891	NM_006154.4(NEDD4):c.291+8368T>A	NEDD4 (V185D)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2512905	NM_006154.4(NEDD4):c.291+8355T>C	NEDD4 (Y181H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512945	NM_006154.4(NEDD4):c.291+8346G>A	NEDD4 (G178R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394944	NM_006154.4(NEDD4):c.291+8314G>C	NEDD4 (S167T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 779959	NM_006154.4(NEDD4):c.291+8310G>A	NEDD4 (G166S)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2282130	NM_006154.4(NEDD4):c.291+8277T>A	NEDD4 (S155T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527461	NM_006154.4(NEDD4):c.291+8269G>T	NEDD4 (S152I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247201	NM_006154.4(NEDD4):c.291+8173A>C	NEDD4 (D120A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2248590	NM_006154.4(NEDD4):c.291+8165C>G	NEDD4 (I117M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 773745	NM_006154.4(NEDD4):c.291+8099G>A	NEDD4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2619254	NM_006154.4(NEDD4):c.291+8094A>G	NEDD4 (T94A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2475072	NM_006154.4(NEDD4):c.291+8083C>T	NEDD4 (S90L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376192	NM_006154.4(NEDD4):c.291+8025A>G	NEDD4 (R71G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 710651	NM_006154.4(NEDD4):c.291+8022G>C	NEDD4 (E70Q)	Single nucleotide variant (missense variant +2 more)	NEDD4-related disorder +1 more	GLikely benign
Select item 708587	NM_006154.4(NEDD4):c.291+8009C>A	NEDD4 (N65K)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3190548	NM_006154.4(NEDD4):c.291+7993C>T	NEDD4 (P60L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333306	NM_006154.4(NEDD4):c.291+7950G>A	NEDD4 (V46I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2390532	NM_006154.4(NEDD4):c.291+7941A>G	NEDD4 (T43A)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1296895	NM_006154.4(NEDD4):c.291+7911A>G	NEDD4 (M33V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 788895	NM_006154.4(NEDD4):c.291+7901C>A	NEDD4 (S29R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 749865	NM_006154.4(NEDD4):c.291+7895G>A	NEDD4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2487839	NM_006154.4(NEDD4):c.291+7869T>G	NEDD4 (L19V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2490585	NM_006154.4(NEDD4):c.208C>A (p.Pro70Thr)	NEDD4 (P70T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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