ATG9B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	ABCB8, ABCF2 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	ABCB8, ABCF2 +191 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 2221808	NM_000603.5(NOS3):c.3007C>T (p.Pro1003Ser)	ATG9B, NOS3 (P1003S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 797709	NM_000603.5(NOS3):c.3009C>T (p.Pro1003=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 403251	NM_000603.5(NOS3):c.3106+11G>T	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign
Select item 3201330	NM_000603.5(NOS3):c.3142T>C (p.Cys1048Arg)	ATG9B, NOS3 (C1048R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 711394	NM_000603.5(NOS3):c.3156A>G (p.Gln1052=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2560042	NM_000603.5(NOS3):c.3157C>G (p.Leu1053Val)	ATG9B, NOS3 (L1053V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 759912	NM_000603.5(NOS3):c.3165T>C (p.His1055=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 728798	NM_000603.5(NOS3):c.3180G>A (p.Glu1060=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3201331	NM_000603.5(NOS3):c.3244G>A (p.Asp1082Asn)	ATG9B, NOS3 (D1082N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1221942	NM_000603.5(NOS3):c.3255+161A>C	ATG9B, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279688	NM_000603.5(NOS3):c.3256-12G>A	ATG9B, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2658170	NM_000603.5(NOS3):c.3261C>T (p.Tyr1087=)	ATG9B, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3201332	NM_000603.5(NOS3):c.3295G>A (p.Glu1099Lys)	ATG9B, NOS3 (E1099K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 709432	NM_000603.5(NOS3):c.3324G>C (p.Arg1108=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 403252	NM_000603.5(NOS3):c.3351T>C (p.Val1117=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 744667	NM_000603.5(NOS3):c.3403G>A (p.Gly1135Ser)	ATG9B, NOS3 (G1135S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 789595	NM_000603.5(NOS3):c.3414G>A (p.Glu1138=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3054854	NM_000603.5(NOS3):c.3450+7A>G	ATG9B, NOS3	Single nucleotide variant (intron variant)	NOS3-related disorder	GLikely benign
Select item 2488468	NM_000603.5(NOS3):c.3460C>G (p.Arg1154Gly)	ATG9B, NOS3 (R1154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741463	NM_000603.5(NOS3):c.3468C>T (p.His1156=)	ATG9B, NOS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 713974	NM_000603.5(NOS3):c.3474C>T (p.Asp1158=)	ATG9B, NOS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734607	NM_000603.5(NOS3):c.3498C>A (p.Thr1166=)	ATG9B, NOS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2469002	NM_000603.5(NOS3):c.3544G>A (p.Glu1182Lys)	ATG9B, NOS3 (E1182K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2536976	NM_000603.5(NOS3):c.3559G>A (p.Gly1187Ser)	ATG9B, NOS3 (G1187S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2319420	NM_000603.5(NOS3):c.3574G>A (p.Ala1192Thr)	ATG9B, NOS3 (A1192T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2390111	NM_000603.5(NOS3):c.3593C>T (p.Ser1198Leu)	ATG9B, NOS3 (S1198L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2265185	NM_000603.5(NOS3):c.3608C>A (p.Pro1203His)	ATG9B, NOS3 (P1203H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2658171	NM_000603.5(NOS3):c.*6G>A	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2371041	NM_001317056.2(ATG9B):c.2111C>G (p.Thr704Ser)	ATG9B (T704S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321511	NM_001317056.2(ATG9B):c.2093G>A (p.Arg698His)	ATG9B (R698H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257639	NM_001317056.2(ATG9B):c.2077G>C (p.Ala693Pro)	ATG9B (A693P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321547	NM_001317056.2(ATG9B):c.2060C>T (p.Ser687Leu)	ATG9B (S687L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246575	NM_001317056.2(ATG9B):c.2029G>A (p.Val677Met)	ATG9B (V677M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211905	NM_001317056.2(ATG9B):c.1901C>G (p.Pro634Arg)	ATG9B (P634R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477496	NM_001317056.2(ATG9B):c.1873G>T (p.Val625Phe)	ATG9B (V625F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208111	NM_001317056.2(ATG9B):c.1870G>C (p.Ala624Pro)	ATG9B (A624P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275034	NM_001317056.2(ATG9B):c.1793A>G (p.His598Arg)	ATG9B (H598R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467302	NM_001317056.2(ATG9B):c.1790T>C (p.Met597Thr)	ATG9B (M597T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556680	NM_001317056.2(ATG9B):c.1759C>G (p.Gln587Glu)	ATG9B (Q587E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131041	NM_001317056.2(ATG9B):c.1637C>A (p.Thr546Asn)	ATG9B (T546N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131040	NM_001317056.2(ATG9B):c.1556C>T (p.Pro519Leu)	ATG9B (P519L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488231	NM_001317056.2(ATG9B):c.1535C>T (p.Ala512Val)	ATG9B (A512V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483750	NM_001317056.2(ATG9B):c.1517C>T (p.Ala506Val)	ATG9B (A506V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 929759	NM_001317056.2(ATG9B):c.1480G>T (p.Glu494Ter)	ATG9B (E494*)	Single nucleotide variant (nonsense +1 more)	Premature ovarian failure	GLikely pathogenic
Select item 2531163	NM_001317056.2(ATG9B):c.1417C>G (p.Pro473Ala)	ATG9B (P473A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236153	NM_001317056.2(ATG9B):c.1417C>T (p.Pro473Ser)	ATG9B (P473S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321565	NM_001317056.2(ATG9B):c.1411C>T (p.Arg471Cys)	ATG9B (R471C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368257	NM_001317056.2(ATG9B):c.1409G>A (p.Arg470Gln)	ATG9B (R470Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131038	NM_001317056.2(ATG9B):c.1352C>T (p.Pro451Leu)	ATG9B (P451L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658172	NM_001317056.2(ATG9B):c.1329C>T (p.Ala443=)	ATG9B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3321538	NM_001317056.2(ATG9B):c.1310G>A (p.Arg437His)	ATG9B (R437H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484203	NM_001317056.2(ATG9B):c.1256C>T (p.Pro419Leu)	ATG9B, LOC129999615 (P419L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321558	NM_001317056.2(ATG9B):c.1162A>G (p.Ser388Gly)	ATG9B (S388G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338573	NM_001317056.2(ATG9B):c.1063C>G (p.Leu355Val)	ATG9B (L355V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658173	NM_001317056.2(ATG9B):c.1048C>A (p.Arg350=)	ATG9B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658174	NM_001317056.2(ATG9B):c.1047G>A (p.Pro349=)	ATG9B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2263949	NM_001317056.2(ATG9B):c.1019A>G (p.Gln340Arg)	ATG9B (Q340R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602365	NM_001317056.2(ATG9B):c.1006C>T (p.Leu336Phe)	ATG9B (L336F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298942	NM_001317056.2(ATG9B):c.931G>C (p.Val311Leu)	ATG9B (V311L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321521	NM_001317056.2(ATG9B):c.902G>A (p.Cys301Tyr)	ATG9B (C301Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588390	NM_001317056.2(ATG9B):c.868G>A (p.Gly290Ser)	ATG9B (G290S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321534	NM_001317056.2(ATG9B):c.854T>C (p.Leu285Pro)	ATG9B (L285P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391200	NM_001317056.2(ATG9B):c.835C>T (p.Pro279Ser)	ATG9B (P279S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488341	NM_001317056.2(ATG9B):c.815C>G (p.Ala272Gly)	ATG9B (A272G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131049	NM_001317056.2(ATG9B):c.761C>T (p.Pro254Leu)	ATG9B (P254L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2210256	NM_001317056.2(ATG9B):c.758G>A (p.Gly253Glu)	ATG9B (G253E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249883	NM_001317056.2(ATG9B):c.747T>G (p.His249Gln)	ATG9B (H249Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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