ClinVar for Gene (Select 4745) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299259	NM_006157.5(NELL1):c.458C>T (p.Ala153Val)	NELL1 (A181V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299258	NM_006157.5(NELL1):c.188T>A (p.Ile63Lys)	NELL1 (I63K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299257	NM_006157.5(NELL1):c.1936G>A (p.Val646Met)	NELL1 (V646M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299256	NM_006157.5(NELL1):c.1336C>G (p.His446Asp)	NELL1 (H474D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299255	NM_006157.5(NELL1):c.1364C>T (p.Pro455Leu)	NELL1 (P483L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299254	NM_006157.5(NELL1):c.188T>C (p.Ile63Thr)	NELL1 (I63T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193108	NM_006157.5(NELL1):c.994C>G (p.Arg332Gly)	NELL1 (R275G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193105	NM_006157.5(NELL1):c.944C>G (p.Ser315Cys)	NELL1 (S258C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193100	NM_006157.5(NELL1):c.931C>A (p.Pro311Thr)	NELL1 (P254T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193095	NM_006157.5(NELL1):c.905T>C (p.Val302Ala)	NELL1 (V302A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193089	NM_006157.5(NELL1):c.826A>T (p.Ser276Cys)	NELL1 (S219C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193075	NM_006157.5(NELL1):c.653C>A (p.Thr218Lys)	NELL1 (T161K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193065	NM_006157.5(NELL1):c.544C>T (p.Leu182Phe)	NELL1 (L182F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193048	NM_006157.5(NELL1):c.337T>C (p.Tyr113His)	NELL1 (Y141H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193046	NM_006157.5(NELL1):c.249C>G (p.Asn83Lys)	NELL1 (N111K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193034	NM_006157.5(NELL1):c.2362T>A (p.Cys788Ser)	NELL1 (C731S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193026	NM_006157.5(NELL1):c.2247T>G (p.Cys749Trp)	NELL1 (C692W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193022	NM_006157.5(NELL1):c.2243G>A (p.Arg748His)	NELL1 (R701H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193018	NM_006157.5(NELL1):c.211C>T (p.Pro71Ser)	NELL1 (P99S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193013	NM_006157.5(NELL1):c.2002C>T (p.Arg668Trp)	NELL1 (R611W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193007	NM_006157.5(NELL1):c.2000G>A (p.Arg667Gln)	NELL1 (R620Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193003	NM_006157.5(NELL1):c.1913G>C (p.Gly638Ala)	NELL1 (G581A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193001	NM_006157.5(NELL1):c.1895G>C (p.Gly632Ala)	NELL1 (G632A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192996	NM_006157.5(NELL1):c.1871G>A (p.Cys624Tyr)	NELL1 (C567Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192988	NM_006157.5(NELL1):c.173T>G (p.Phe58Cys)	NELL1 (F58C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192986	NM_006157.5(NELL1):c.156C>G (p.His52Gln)	NELL1 (H52Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192977	NM_006157.5(NELL1):c.1370T>C (p.Leu457Ser)	NELL1 (L485S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192956	NM_006157.5(NELL1):c.1070G>A (p.Arg357Gln)	NELL1 (R357Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025460	NM_006157.5(NELL1):c.1614A>G (p.Pro538=)	NELL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641687	NM_006157.5(NELL1):c.1576G>A (p.Gly526Ser)	NELL1 (G469S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2605302	NM_006157.5(NELL1):c.1763C>T (p.Ser588Leu)	NELL1 (S588L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601696	NM_006157.5(NELL1):c.1070G>T (p.Arg357Leu)	NELL1 (R357L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598292	NM_006157.5(NELL1):c.931C>T (p.Pro311Ser)	NELL1 (P254S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547956	NM_006157.5(NELL1):c.2243G>T (p.Arg748Leu)	NELL1 (R776L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527410	NM_006157.5(NELL1):c.1010A>G (p.Tyr337Cys)	NELL1 (Y337C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524298	NM_006157.5(NELL1):c.2053G>A (p.Glu685Lys)	NELL1 (E628K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524170	NM_006157.5(NELL1):c.2256C>A (p.Asp752Glu)	NELL1 (D695E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522740	NM_006157.5(NELL1):c.377G>A (p.Arg126Gln)	NELL1 (R126Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509393	NM_006157.5(NELL1):c.1159C>T (p.Arg387Cys)	NELL1 (R330C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2490001	NM_006157.5(NELL1):c.733G>A (p.Glu245Lys)	NELL1 (E188K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489033	NM_006157.5(NELL1):c.582C>G (p.Asn194Lys)	NELL1 (N137K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482879	NM_006157.5(NELL1):c.751A>G (p.Thr251Ala)	NELL1 (T194A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472250	NM_006157.5(NELL1):c.2380A>G (p.Lys794Glu)	NELL1 (K747E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455376	NM_006157.5(NELL1):c.742G>T (p.Ala248Ser)	NELL1 (A276S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403522	NM_006157.5(NELL1):c.539C>T (p.Thr180Ile)	NELL1 (T123I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380700	NM_006157.5(NELL1):c.154C>T (p.His52Tyr)	NELL1 (H52Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368608	NM_006157.5(NELL1):c.2404G>A (p.Val802Met)	NELL1 (V830M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367732	NM_006157.5(NELL1):c.598T>C (p.Phe200Leu)	NELL1 (F143L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364490	NM_006157.5(NELL1):c.1508C>T (p.Thr503Ile)	NELL1 (T446I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352462	NM_006157.5(NELL1):c.909A>C (p.Glu303Asp)	NELL1 (E331D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342360	NM_006157.5(NELL1):c.244C>T (p.Arg82Trp)	NELL1 (R110W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338006	NM_006157.5(NELL1):c.124A>G (p.Thr42Ala)	NELL1 (T70A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333451	NM_006157.5(NELL1):c.1270T>G (p.Ser424Ala)	NELL1 (S367A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318295	NM_006157.5(NELL1):c.901G>A (p.Ala301Thr)	NELL1 (A244T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311706	NM_006157.5(NELL1):c.923C>T (p.Ser308Phe)	NELL1 (S251F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299033	NM_006157.5(NELL1):c.73G>A (p.Asp25Asn)	NELL1 (D25N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237147	NM_006157.5(NELL1):c.1267A>G (p.Ile423Val)	NELL1 (I451V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222182	NM_006157.5(NELL1):c.1493A>G (p.Gln498Arg)	NELL1 (Q526R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220841	NM_006157.5(NELL1):c.2323C>T (p.Arg775Trp)	NELL1 (R718W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206959	NM_006157.5(NELL1):c.1146G>C (p.Glu382Asp)	NELL1 (E382D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206874	NM_006157.5(NELL1):c.376C>T (p.Arg126Trp)	NELL1 (R126W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206361	NM_006157.5(NELL1):c.664A>G (p.Asn222Asp)	NELL1 (N165D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1527630	GRCh37/hg19 11p15.1(chr11:20821609-20875957)	NELL1	Copy number loss	not specified	GUncertain significance
Select item 1340164	GRCh37/hg19 11p15.1-14.3(chr11:21369308-21917565)x3	NELL1	Copy number gain	not provided	GUncertain significance
Select item 1301686	NM_006157.5(NELL1):c.854C>G (p.Ser285Cys)	NELL1 (S228C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301685	NM_006157.5(NELL1):c.677-7T>C	NELL1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1013306	NM_006157.5(NELL1):c.1004G>A (p.Cys335Tyr)	NELL1 (C278Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980404	GRCh37/hg19 11p15.1(chr11:20641021-20842894)x3	NELL1, SLC6A5	Copy number gain	not provided	GUncertain significance
Select item 815415	GRCh37/hg19 11p15.1(chr11:20490837-20879157)x3	PRMT3, NELL1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 781957	NM_006157.5(NELL1):c.577C>T (p.Arg193Cys)	NELL1 (R136C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780142	NM_006157.5(NELL1):c.1617T>A (p.Ser539=)	NELL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778040	NM_006157.5(NELL1):c.1737C>T (p.Ser579=)	NELL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 770597	NM_006157.5(NELL1):c.932C>T (p.Pro311Leu)	NELL1 (P254L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 768438	NM_006157.5(NELL1):c.859G>A (p.Val287Ile)	NELL1 (V230I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768437	NM_006157.5(NELL1):c.631T>G (p.Phe211Val)	NELL1 (F211V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726793	NM_006157.5(NELL1):c.1671C>T (p.Ile557=)	NELL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 723721	NM_006157.5(NELL1):c.756A>T (p.Ala252=)	NELL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722297	NM_006157.5(NELL1):c.1815C>T (p.His605=)	NELL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719361	NM_006157.5(NELL1):c.457G>A (p.Ala153Thr)	NELL1 (A153T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 717170	NM_006157.5(NELL1):c.1447G>A (p.Gly483Ser)	NELL1 (G483S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713988	NM_006157.5(NELL1):c.1160G>A (p.Arg387His)	NELL1 (R387H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710802	NM_006157.5(NELL1):c.1906C>T (p.His636Tyr)	NELL1 (H589Y +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687387	GRCh37/hg19 11p15.1-14.3(chr11:21416074-21885376)x3	NELL1	Copy number gain	not provided	GUncertain significance
Select item 686827	GRCh37/hg19 11p15.1-14.3(chr11:21370750-23441691)x4	ANO5, CCDC179 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685681	GRCh37/hg19 11p15.1(chr11:20792281-21073130)x1	NELL1	Copy number loss	not provided	GUncertain significance
Select item 685646	GRCh37/hg19 11p15.1-14.3(chr11:21369307-21923060)x3	NELL1	Copy number gain	not provided	GUncertain significance
Select item 685434	GRCh37/hg19 11p15.1(chr11:21125532-21154364)x1	NELL1	Copy number loss	not provided	GUncertain significance
Select item 563834	GRCh37/hg19 11p15.1-14.3(chr11:21482932-21753111)x1	NELL1	Copy number loss	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic

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