NEURL4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 59582	GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1	ACADVL, ACAP1 +72 more	Copy number loss	See cases	GPathogenic
Select item 2377114	NM_032442.3(NEURL4):c.4565C>T (p.Pro1522Leu)	NEURL4 (P1522L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593836	NM_032442.3(NEURL4):c.4541G>C (p.Cys1514Ser)	NEURL4 (C1512S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195241	NM_032442.3(NEURL4):c.4507C>T (p.Arg1503Trp)	NEURL4 (R1503W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556176	NM_032442.3(NEURL4):c.4423C>T (p.Pro1475Ser)	NEURL4 (P1475S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538702	NM_032442.3(NEURL4):c.4360C>G (p.Pro1454Ala)	NEURL4 (P1452A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466931	NM_032442.3(NEURL4):c.4322C>T (p.Thr1441Ile)	NEURL4 (T1439I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1333665	NM_032442.3(NEURL4):c.4290_4303del (p.Val1431fs)	NEURL4 (V1429fs +1 more)	Deletion (frameshift variant)	NEURL4 related disorder	GUncertain significance
Select item 2605263	NM_032442.3(NEURL4):c.4279G>A (p.Ala1427Thr)	NEURL4 (A1427T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714725	NM_032442.3(NEURL4):c.4257A>C (p.Ala1419=)	NEURL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771020	NM_032442.3(NEURL4):c.4252A>G (p.Met1418Val)	NEURL4 (M1418V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2397314	NM_032442.3(NEURL4):c.4145G>A (p.Arg1382His)	NEURL4 (R1380H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378314	NM_032442.3(NEURL4):c.4079C>T (p.Pro1360Leu)	NEURL4 (P1360L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195221	NM_032442.3(NEURL4):c.4033C>T (p.Arg1345Cys)	NEURL4 (R1343C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618014	NM_032442.3(NEURL4):c.4012G>A (p.Glu1338Lys)	NEURL4 (E1336K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598432	NM_032442.3(NEURL4):c.3968T>C (p.Val1323Ala)	NEURL4 (V1323A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248169	NM_032442.3(NEURL4):c.3881C>T (p.Pro1294Leu)	NEURL4 (P1292L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253032	NM_032442.3(NEURL4):c.3760G>T (p.Gly1254Trp)	NEURL4 (G1254W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358540	NM_032442.3(NEURL4):c.3706A>G (p.Asn1236Asp)	NEURL4 (N1236D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533224	NM_032442.3(NEURL4):c.3703C>T (p.Pro1235Ser)	NEURL4 (P1233S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647327	NM_032442.3(NEURL4):c.3679C>T (p.Leu1227Phe)	NEURL4 (L1225F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2251986	NM_032442.3(NEURL4):c.3664G>A (p.Val1222Ile)	NEURL4 (V1220I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522510	NM_032442.3(NEURL4):c.3622T>G (p.Cys1208Gly)	NEURL4 (C1208G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294931	NM_032442.3(NEURL4):c.3611C>T (p.Pro1204Leu)	NEURL4 (P1202L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521915	NM_032442.3(NEURL4):c.3590C>T (p.Ala1197Val)	NEURL4 (A1195V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777118	NM_032442.3(NEURL4):c.3582C>T (p.Ile1194=)	NEURL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2525219	NM_032442.3(NEURL4):c.3544A>C (p.Asn1182His)	NEURL4 (N1180H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299621	NM_032442.3(NEURL4):c.3437A>G (p.Asn1146Ser)	NEURL4 (N1144S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339565	NM_032442.3(NEURL4):c.3415G>C (p.Gly1139Arg)	NEURL4 (G1137R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548454	NM_032442.3(NEURL4):c.3414T>A (p.His1138Gln)	NEURL4 (H1138Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647328	NM_032442.3(NEURL4):c.3285C>T (p.Thr1095=)	NEURL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2546656	NM_032442.3(NEURL4):c.3284C>T (p.Thr1095Ile)	NEURL4 (T1093I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647329	NM_032442.3(NEURL4):c.3272A>T (p.Glu1091Val)	NEURL4 (E1089V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2361437	NM_032442.3(NEURL4):c.3238G>A (p.Gly1080Ser)	NEURL4 (G1078S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511989	NM_032442.3(NEURL4):c.3122G>A (p.Arg1041His)	NEURL4 (R1039H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195169	NM_032442.3(NEURL4):c.3005G>A (p.Arg1002Gln)	NEURL4 (R1002Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492695	NM_032442.3(NEURL4):c.3005G>T (p.Arg1002Leu)	NEURL4 (R1002L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371570	NM_032442.3(NEURL4):c.3004C>T (p.Arg1002Trp)	NEURL4 (R1000W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195162	NM_032442.3(NEURL4):c.2996C>T (p.Pro999Leu)	NEURL4 (P999L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195152	NM_032442.3(NEURL4):c.2965G>A (p.Gly989Ser)	NEURL4 (G989S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195149	NM_032442.3(NEURL4):c.2956G>A (p.Gly986Arg)	NEURL4 (G986R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203844	NM_032442.3(NEURL4):c.2944G>A (p.Glu982Lys)	NEURL4 (E980K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647330	NM_032442.3(NEURL4):c.2769C>T (p.Asn923=)	NEURL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2260471	NM_032442.3(NEURL4):c.2738C>T (p.Ala913Val)	NEURL4 (A911V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647331	NM_032442.3(NEURL4):c.2725+4C>T	NEURL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 752607	NM_032442.3(NEURL4):c.2697C>T (p.Thr899=)	NEURL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3195138	NM_032442.3(NEURL4):c.2638T>C (p.Ser880Pro)	NEURL4 (S878P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786431	NM_032442.3(NEURL4):c.2584C>G (p.Pro862Ala)	NEURL4 (P862A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2223657	NM_032442.3(NEURL4):c.2500A>G (p.Ile834Val)	NEURL4 (I834V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195131	NM_032442.3(NEURL4):c.2480C>T (p.Ala827Val)	NEURL4 (A827V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301412	NM_032442.3(NEURL4):c.2452C>T (p.Arg818Cys)	NEURL4 (R818C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291355	NM_032442.3(NEURL4):c.2270G>A (p.Arg757Gln)	NEURL4 (R757Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195120	NM_032442.3(NEURL4):c.2269C>T (p.Arg757Trp)	NEURL4 (R757W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393308	NM_032442.3(NEURL4):c.2225G>A (p.Arg742His)	NEURL4 (R742H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383882	NM_032442.3(NEURL4):c.2201G>A (p.Arg734His)	NEURL4 (R734H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513221	NM_032442.3(NEURL4):c.2200C>T (p.Arg734Cys)	NEURL4 (R734C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347662	NM_032442.3(NEURL4):c.2153G>A (p.Arg718His)	NEURL4 (R718H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326141	NM_032442.3(NEURL4):c.2137G>A (p.Gly713Arg)	NEURL4 (G713R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708050	NM_032442.3(NEURL4):c.2096G>A (p.Gly699Glu)	NEURL4 (G699E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712630	NM_032442.3(NEURL4):c.2082A>G (p.Glu694=)	NEURL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724280	NM_032442.3(NEURL4):c.2034G>A (p.Ala678=)	NEURL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3195104	NM_032442.3(NEURL4):c.2000G>A (p.Gly667Asp)	NEURL4 (G667D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294738	NM_032442.3(NEURL4):c.1876G>A (p.Gly626Arg)	NEURL4 (G626R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492192	NM_032442.3(NEURL4):c.1856C>T (p.Thr619Met)	NEURL4 (T619M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195091	NM_032442.3(NEURL4):c.1708A>G (p.Ile570Val)	NEURL4 (I570V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195087	NM_032442.3(NEURL4):c.1649A>G (p.Asn550Ser)	NEURL4 (N550S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334492	NM_032442.3(NEURL4):c.1552C>G (p.Pro518Ala)	NEURL4 (P518A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195078	NM_032442.3(NEURL4):c.1549G>C (p.Glu517Gln)	NEURL4 (E517Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601770	NM_032442.3(NEURL4):c.1540G>A (p.Ala514Thr)	NEURL4 (A514T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478339	NM_032442.3(NEURL4):c.1510G>A (p.Glu504Lys)	NEURL4 (E504K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195069	NM_032442.3(NEURL4):c.1475G>A (p.Arg492His)	NEURL4 (R492H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464539	NM_032442.3(NEURL4):c.1474C>T (p.Arg492Cys)	NEURL4 (R492C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561461	NM_032442.3(NEURL4):c.1468C>T (p.Arg490Cys)	NEURL4 (R490C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279435	NM_032442.3(NEURL4):c.1432A>C (p.Lys478Gln)	NEURL4 (K478Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303412	NM_032442.3(NEURL4):c.1393G>A (p.Val465Met)	NEURL4 (V465M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195056	NM_032442.3(NEURL4):c.1385C>T (p.Thr462Met)	NEURL4 (T462M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473941	NM_032442.3(NEURL4):c.1303C>G (p.His435Asp)	NEURL4 (H435D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310849	NM_032442.3(NEURL4):c.1282G>T (p.Asp428Tyr)	NEURL4 (D428Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267587	NM_032442.3(NEURL4):c.1138A>G (p.Ile380Val)	NEURL4 (I380V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325603	NM_032442.3(NEURL4):c.1133T>G (p.Ile378Ser)	NEURL4 (I378S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195032	NM_032442.3(NEURL4):c.1066C>A (p.Pro356Thr)	NEURL4 (P356T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195024	NM_032442.3(NEURL4):c.1022G>A (p.Arg341Gln)	NEURL4 (R341Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612368	NM_032442.3(NEURL4):c.970T>C (p.Cys324Arg)	NEURL4 (C324R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226008	NM_032442.3(NEURL4):c.919G>A (p.Ala307Thr)	NEURL4 (A307T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195281	NM_032442.3(NEURL4):c.854G>A (p.Gly285Glu)	NEURL4 (G285E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257272	NM_032442.3(NEURL4):c.794A>G (p.Asp265Gly)	NEURL4 (D265G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489538	NM_032442.3(NEURL4):c.764C>T (p.Thr255Met)	NEURL4 (T255M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380853	NM_032442.3(NEURL4):c.758C>T (p.Pro253Leu)	NEURL4 (P253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496184	NM_032442.3(NEURL4):c.755G>A (p.Arg252Gln)	NEURL4 (R252Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195264	NM_032442.3(NEURL4):c.713C>T (p.Thr238Ile)	NEURL4 (T238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647332	NM_032442.3(NEURL4):c.534C>T (p.Cys178=)	NEURL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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