7872[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 58231	GRCh38/hg38 12q24.21-24.22(chr12:116028938-117300100)x3	FBXO21, FBXW8 +61 more	Copy number gain	See cases	GUncertain significance
Select item 3033399	NM_000620.5(NOS1):c.*8C>T	NOS1	Single nucleotide variant (3 prime UTR variant)	NOS1-related disorder	GBenign
Select item 2533386	NM_000620.5(NOS1):c.4291G>A (p.Val1431Ile)	NOS1 (V1431I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643374	NM_000620.5(NOS1):c.4287T>C (p.Asp1429=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730599	NM_000620.5(NOS1):c.4264G>C (p.Glu1422Gln)	NOS1 (E1086Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3201287	NM_000620.5(NOS1):c.4262T>C (p.Ile1421Thr)	NOS1 (I1421T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201286	NM_000620.5(NOS1):c.4234C>T (p.Arg1412Cys)	NOS1 (R1446C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201285	NM_000620.5(NOS1):c.4147G>A (p.Gly1383Ser)	NOS1 (G1047S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230441	NM_000620.5(NOS1):c.4078G>T (p.Ala1360Ser)	NOS1 (A1394S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059998	NM_000620.5(NOS1):c.4059C>A (p.Val1353=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GBenign
Select item 3050294	NM_000620.5(NOS1):c.4057G>A (p.Val1353Ile)	NOS1 (V1017I +2 more)	Single nucleotide variant (missense variant)	NOS1-related disorder	GLikely benign
Select item 791499	NM_000620.5(NOS1):c.4047C>A (p.Gly1349=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2253379	NM_000620.5(NOS1):c.4018G>A (p.Val1340Met)	NOS1 (V1374M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 797448	NM_000620.5(NOS1):c.4011G>A (p.Ala1337=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2281235	NM_000620.5(NOS1):c.3908A>G (p.Gln1303Arg)	NOS1 (Q967R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731763	NM_000620.5(NOS1):c.3894G>A (p.Arg1298=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731444	NM_000620.5(NOS1):c.3858C>T (p.Phe1286=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3201283	NM_000620.5(NOS1):c.3769G>A (p.Gly1257Ser)	NOS1 (G1257S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739161	NM_000620.5(NOS1):c.3678C>T (p.Asp1226=)	NOS1, LOC129390567	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2521620	NM_000620.5(NOS1):c.3676G>A (p.Asp1226Asn)	LOC129390567, NOS1 (D1226N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201282	NM_000620.5(NOS1):c.3637C>T (p.His1213Tyr)	LOC129390567, NOS1 (H1213Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255859	NM_000620.5(NOS1):c.3614G>A (p.Arg1205Gln)	NOS1 (R869Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375825	NM_000620.5(NOS1):c.3608G>A (p.Arg1203His)	NOS1 (R1203H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 208544	NM_000620.5(NOS1):c.3606C>G (p.Tyr1202Ter)	NOS1 (Y1202* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 774486	NM_000620.5(NOS1):c.3522G>A (p.Leu1174=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3300387	NM_000620.5(NOS1):c.3491C>T (p.Pro1164Leu)	NOS1 (P1198L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737478	NM_000620.5(NOS1):c.3477A>G (p.Pro1159=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711575	NM_000620.5(NOS1):c.3453C>T (p.Ile1151=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 744828	NM_000620.5(NOS1):c.3420C>T (p.Tyr1140=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717479	NM_000620.5(NOS1):c.3330G>A (p.Thr1110=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2278855	NM_000620.5(NOS1):c.3329C>T (p.Thr1110Met)	NOS1 (T1110M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731457	NM_000620.5(NOS1):c.3306C>T (p.Tyr1102=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2240778	NM_000620.5(NOS1):c.3259G>A (p.Glu1087Lys)	NOS1 (E751K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061017	NM_000620.5(NOS1):c.3258C>T (p.Asp1086=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GBenign
Select item 3047236	NM_000620.5(NOS1):c.3225C>T (p.Asn1075=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GLikely benign
Select item 2261265	NM_000620.5(NOS1):c.3182C>T (p.Pro1061Leu)	NOS1 (P725L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723619	NM_000620.5(NOS1):c.3177G>A (p.Ala1059=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2350629	NM_000620.5(NOS1):c.3164G>A (p.Arg1055Gln)	NOS1 (R1089Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034912	NM_000620.5(NOS1):c.3159C>T (p.Ile1053=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GLikely benign
Select item 788441	NM_000620.5(NOS1):c.3066C>G (p.Leu1022=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2459330	NM_000620.5(NOS1):c.3061C>T (p.Arg1021Cys)	NOS1 (R1055C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201281	NM_000620.5(NOS1):c.3058G>A (p.Val1020Met)	NOS1 (V1020M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643375	NM_000620.5(NOS1):c.3048A>C (p.Ser1016=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776753	NM_000620.5(NOS1):c.3042-6C>T	NOS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3350908	NM_000620.5(NOS1):c.3020del (p.Asn1007fs)	NOS1 (N1007fs +2 more)	Deletion (frameshift variant)	NOS1-related disorder	GUncertain significance
Select item 3201280	NM_000620.5(NOS1):c.2972A>G (p.Asn991Ser)	NOS1 (N991S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3300390	NM_000620.5(NOS1):c.2899C>T (p.Arg967Cys)	NOS1 (R1001C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595935	NM_000620.5(NOS1):c.2863A>G (p.Ile955Val)	NOS1 (I619V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764248	NM_000620.5(NOS1):c.2856T>C (p.Asp952=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710024	NM_000620.5(NOS1):c.2721C>T (p.Leu907=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3060800	NM_000620.5(NOS1):c.2706C>T (p.His902=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GBenign
Select item 3300391	NM_000620.5(NOS1):c.2705A>G (p.His902Arg)	NOS1 (H902R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052307	NM_000620.5(NOS1):c.2661T>C (p.Phe887=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GLikely benign
Select item 712593	NM_000620.5(NOS1):c.2649-9C>T	NOS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 721345	NM_000620.5(NOS1):c.2606T>C (p.Leu869Pro)	NOS1 (L869P +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3055936	NM_000620.5(NOS1):c.2601C>T (p.Pro867=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GBenign
Select item 2590182	NM_000620.5(NOS1):c.2596G>A (p.Gly866Arg)	NOS1 (G900R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788796	NM_000620.5(NOS1):c.2591G>A (p.Gly864Asp)	NOS1 (G864D +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3300388	NM_000620.5(NOS1):c.2534G>A (p.Ser845Asn)	NOS1 (S509N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205665	NM_000620.5(NOS1):c.2532-2185A>G	NOS1 (H877R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201279	NM_000620.5(NOS1):c.2532-2218T>A	NOS1 (V866D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039557	NM_000620.5(NOS1):c.2532-2233A>G	NOS1 (N861S)	Single nucleotide variant (missense variant +1 more)	NOS1-related disorder	GBenign
Select item 3300385	NM_000620.5(NOS1):c.2532-2255C>T	NOS1 (R854C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053861	NM_000620.5(NOS1):c.2532-2256C>A	NOS1	Single nucleotide variant (synonymous variant +1 more)	NOS1-related disorder	GBenign
Select item 3059601	NM_000620.5(NOS1):c.2532-2258C>T	NOS1 (P853S)	Single nucleotide variant (missense variant +1 more)	NOS1-related disorder	GBenign
Select item 2530574	NM_000620.5(NOS1):c.2532-2278C>T	NOS1 (P846L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737985	NM_000620.5(NOS1):c.2502G>A (p.Arg834=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643376	NM_000620.5(NOS1):c.2479G>A (p.Gly827Ser)	NOS1 (G491S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 739139	NM_000620.5(NOS1):c.2367+7G>C	NOS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736299	NM_000620.5(NOS1):c.2313G>A (p.Ser771=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2224811	NM_000620.5(NOS1):c.2303C>T (p.Thr768Ile)	NOS1 (T768I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201278	NM_000620.5(NOS1):c.2278G>A (p.Ala760Thr)	NOS1 (A424T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060480	NM_000620.5(NOS1):c.2202T>C (p.Ile734=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GBenign
Select item 2243735	NM_000620.5(NOS1):c.2176G>A (p.Gly726Arg)	NOS1 (G726R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790129	NM_000620.5(NOS1):c.2173A>G (p.Asn725Asp)	NOS1 (N725D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3058237	NM_000620.5(NOS1):c.2154G>A (p.Thr718=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GLikely benign
Select item 2293537	NM_000620.5(NOS1):c.2101C>T (p.Leu701Phe)	NOS1 (L701F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491627	NM_000620.5(NOS1):c.2064G>A (p.Met688Ile)	NOS1 (M352I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386757	NM_000620.5(NOS1):c.2021G>A (p.Arg674Gln)	NOS1 (R674Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717157	NM_000620.5(NOS1):c.1941+8C>T	NOS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 741921	NM_000620.5(NOS1):c.1905G>C (p.Leu635=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3201277	NM_000620.5(NOS1):c.1877C>T (p.Thr626Met)	NOS1 (T626M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265127	NM_000620.5(NOS1):c.1858A>G (p.Asn620Asp)	NOS1 (N284D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715032	NM_000620.5(NOS1):c.1855A>T (p.Met619Leu)	NOS1 (M283L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 791035	NM_000620.5(NOS1):c.1803C>T (p.Arg601=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789526	NM_000620.5(NOS1):c.1783G>A (p.Gly595Ser)	NOS1 (G259S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3350648	NM_000620.5(NOS1):c.1689G>A (p.Gly563=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GLikely benign
Select item 3300389	NM_000620.5(NOS1):c.1597G>A (p.Gly533Ser)	NOS1 (G533S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049236	NM_000620.5(NOS1):c.1596C>T (p.Asn532=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GLikely benign
Select item 756097	NM_000620.5(NOS1):c.1572C>A (p.Val524=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778665	NM_000620.5(NOS1):c.1524+7G>A	NOS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3201275	NM_000620.5(NOS1):c.1514A>C (p.Gln505Pro)	NOS1 (Q169P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785428	NM_000620.5(NOS1):c.1461C>T (p.Tyr487=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2643377	NM_000620.5(NOS1):c.1425C>T (p.His475=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3300384	NM_000620.5(NOS1):c.1417G>A (p.Gly473Ser)	NOS1 (G137S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525476	NM_000620.5(NOS1):c.1416C>G (p.Asp472Glu)	NOS1 (D136E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739949	NM_000620.5(NOS1):c.1401C>T (p.Phe467=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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