Related gene-specific medical variations for Gene (Select 285973) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3054854	NM_000603.5(NOS3):c.3450+7A>G	ATG9B, NOS3	Single nucleotide variant (intron variant)	NOS3-related disorder	GLikely benign
Select item 2658171	NM_000603.5(NOS3):c.*6G>A	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 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 2488468	NM_000603.5(NOS3):c.3460C>G (p.Arg1154Gly)	ATG9B, NOS3 (R1154G)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 1279688	NM_000603.5(NOS3):c.3256-12G>A	ATG9B, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221942	NM_000603.5(NOS3):c.3255+161A>C	ATG9B, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 741463	NM_000603.5(NOS3):c.3468C>T (p.His1156=)	ATG9B, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734607	NM_000603.5(NOS3):c.3498C>A (p.Thr1166=)	ATG9B, NOS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 713974	NM_000603.5(NOS3):c.3474C>T (p.Asp1158=)	ATG9B, NOS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 specified +1 more	GBenign
Select item 403251	NM_000603.5(NOS3):c.3106+11G>T	NOS3, ATG9B	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign

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Links from Gene

Items: 29