4843[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60137	GRCh38/hg38 17q11.2(chr17:27627733-28118935)x3	LGALS9, LINC01992 +18 more	Copy number gain	See cases	GUncertain significance
Select item 784739	NM_000625.4(NOS2):c.3408G>A (p.Ala1136=)	NOS2	Single nucleotide variant (synonymous variant)	NOS2-related disorder +1 more	GBenign/Likely benign
Select item 2325750	NM_000625.4(NOS2):c.3400T>C (p.Tyr1134His)	NOS2 (Y1134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270332	NM_000625.4(NOS2):c.3395T>A (p.Phe1132Tyr)	NOS2 (F1132Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764639	NM_000625.4(NOS2):c.3333G>A (p.Glu1111=)	NOS2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 710107	NM_000625.4(NOS2):c.3330C>T (p.Val1110=)	NOS2	Single nucleotide variant (synonymous variant)	NOS2-related disorder +1 more	GBenign
Select item 3047104	NM_000625.4(NOS2):c.3291G>A (p.Gln1097=)	NOS2	Single nucleotide variant (synonymous variant)	NOS2-related disorder	GLikely benign
Select item 3201318	NM_000625.4(NOS2):c.3281C>T (p.Thr1094Ile)	NOS2 (T1094I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281985	NM_000625.4(NOS2):c.3265C>T (p.Arg1089Trp)	NOS2 (R1089W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 786311	NM_000625.4(NOS2):c.3256C>T (p.Arg1086Cys)	NOS2 (R1086C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3201317	NM_000625.4(NOS2):c.3235C>T (p.Leu1079Phe)	NOS2 (L1079F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752315	NM_000625.4(NOS2):c.3231C>A (p.Gly1077=)	NOS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2357149	NM_000625.4(NOS2):c.3198C>G (p.Ser1066Arg)	NOS2 (S1066R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603463	NM_000625.4(NOS2):c.3140G>A (p.Arg1047His)	NOS2 (R1047H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338716	NM_000625.4(NOS2):c.3134A>G (p.Tyr1045Cys)	NOS2 (Y1045C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201315	NM_000625.4(NOS2):c.3131C>T (p.Ala1044Val)	NOS2 (A1044V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201314	NM_000625.4(NOS2):c.3119C>T (p.Ala1040Val)	NOS2 (A1040V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403323	NM_000625.4(NOS2):c.3092A>C (p.Glu1031Ala)	NOS2 (E1031A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323263	NM_000625.4(NOS2):c.3086T>C (p.Met1029Thr)	NOS2 (M1029T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786312	NM_000625.4(NOS2):c.3052C>A (p.Arg1018Ser)	NOS2 (R1018S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3201313	NM_000625.4(NOS2):c.3026G>A (p.Arg1009His)	NOS2 (R1009H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546718	NM_000625.4(NOS2):c.3016C>T (p.Arg1006Trp)	NOS2 (R1006W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243736	NM_000625.4(NOS2):c.3005A>T (p.His1002Leu)	NOS2 (H1002L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201312	NM_000625.4(NOS2):c.2913G>C (p.Glu971Asp)	NOS2 (E971D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774516	NM_000625.4(NOS2):c.2888+10C>G	NOS2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2604681	NM_000625.4(NOS2):c.2855A>G (p.Lys952Arg)	NOS2 (K952R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278358	NM_000625.4(NOS2):c.2827G>C (p.Val943Leu)	NOS2 (V943L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201311	NM_000625.4(NOS2):c.2792A>T (p.His931Leu)	NOS2 (H931L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687955	NM_000625.4(NOS2):c.2757A>G (p.Thr919=)	NOS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2515249	NM_000625.4(NOS2):c.2741G>A (p.Arg914Gln)	NOS2 (R914Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2647576	NM_000625.4(NOS2):c.2740C>A (p.Arg914=)	NOS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3201310	NM_000625.4(NOS2):c.2738C>G (p.Ser913Cys)	NOS2 (S913C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336585	NM_000625.4(NOS2):c.2669G>T (p.Arg890Leu)	NOS2 (R890L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399925	NM_000625.4(NOS2):c.2509C>A (p.Pro837Thr)	NOS2 (P837T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728057	NM_000625.4(NOS2):c.2429-8C>T	NOS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 774347	NM_000625.4(NOS2):c.2428+9C>T	NOS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2687956	NM_000625.4(NOS2):c.2428+6C>T	NOS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2687957	NM_000625.4(NOS2):c.2358T>C (p.Gly786=)	NOS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 709950	NM_000625.4(NOS2):c.2345C>T (p.Ala782Val)	NOS2 (A782V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2587961	NM_000625.4(NOS2):c.2342C>T (p.Pro781Leu)	NOS2 (P781L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378154	NM_000625.4(NOS2):c.2327G>T (p.Cys776Phe)	NOS2 (C776F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 750689	NM_000625.4(NOS2):c.2322G>T (p.Gly774=)	NOS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335263	NM_000625.4(NOS2):c.2269C>G (p.Leu757Val)	NOS2 (L757V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2510787	NM_000625.4(NOS2):c.2249G>A (p.Arg750His)	NOS2 (R750H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551683	NM_000625.4(NOS2):c.2218C>T (p.Arg740Trp)	NOS2 (R740W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201309	NM_000625.4(NOS2):c.2194G>A (p.Val732Met)	NOS2 (V732M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201308	NM_000625.4(NOS2):c.2117C>T (p.Pro706Leu)	NOS2 (P706L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764640	NM_000625.4(NOS2):c.2102A>G (p.Asn701Ser)	NOS2 (N701S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2301129	NM_000625.4(NOS2):c.2048C>T (p.Thr683Met)	NOS2 (T683M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747098	NM_000625.4(NOS2):c.2046G>A (p.Glu682=)	NOS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2247701	NM_000625.4(NOS2):c.2042G>A (p.Cys681Tyr)	NOS2 (C681Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294678	NM_000625.4(NOS2):c.1967T>C (p.Met656Thr)	NOS2 (M656T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201307	NM_000625.4(NOS2):c.1943T>A (p.Leu648Gln)	NOS2 (L648Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046531	NM_000625.4(NOS2):c.1905C>T (p.Cys635=)	NOS2	Single nucleotide variant (synonymous variant)	NOS2-related disorder	GLikely benign
Select item 3201306	NM_000625.4(NOS2):c.1889T>C (p.Met630Thr)	NOS2 (M630T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758176	NM_000625.4(NOS2):c.1878C>T (p.Leu626=)	NOS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733930	NM_000625.4(NOS2):c.1860-7C>T	NOS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688094	NM_000625.4(NOS2):c.1859+88G>T	NOS2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688228	NM_000625.4(NOS2):c.1823C>T (p.Ser608Leu)	NOS2 (S608L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2647577	NM_000625.4(NOS2):c.1755G>C (p.Leu585=)	NOS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781855	NM_000625.4(NOS2):c.1755G>A (p.Leu585=)	NOS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710108	NM_000625.4(NOS2):c.1704+10C>T	NOS2	Single nucleotide variant (intron variant)	NOS2-related disorder +1 more	GBenign
Select item 3201305	NM_000625.4(NOS2):c.1685G>A (p.Ser562Asn)	NOS2 (S562N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201304	NM_000625.4(NOS2):c.1655C>T (p.Ala552Val)	NOS2 (A552V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742161	NM_000625.4(NOS2):c.1626C>T (p.Leu542=)	NOS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2464869	NM_000625.4(NOS2):c.1588C>G (p.Arg530Gly)	NOS2 (R530G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271302	NM_000625.4(NOS2):c.1541C>T (p.Pro514Leu)	NOS2 (P514L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067463	NM_000625.4(NOS2):c.1509C>T (p.Asp503=)	NOS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2478503	NM_000625.4(NOS2):c.1495C>G (p.His499Asp)	NOS2 (H499D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687962	NM_000625.4(NOS2):c.1477-52T>C	NOS2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688348	NM_000625.4(NOS2):c.1476+51TG[10]	NOS2	Microsatellite (intron variant)	not specified	GBenign
Select item 2688145	NM_000625.4(NOS2):c.1476+46C>T	NOS2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 744602	NM_000625.4(NOS2):c.1461T>C (p.Pro487=)	NOS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 760744	NM_000625.4(NOS2):c.1449C>T (p.Tyr483=)	NOS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2235506	NM_000625.4(NOS2):c.1373C>T (p.Pro458Leu)	NOS2 (P458L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254606	NM_000625.4(NOS2):c.1360C>T (p.Arg454Cys)	NOS2 (R454C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346221	NM_000625.4(NOS2):c.1355G>A (p.Arg452Gln)	NOS2 (R452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519647	NM_000625.4(NOS2):c.1354C>T (p.Arg452Trp)	NOS2 (R452W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481091	NM_000625.4(NOS2):c.1273A>G (p.Ser425Gly)	NOS2 (S425G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380916	NM_000625.4(NOS2):c.1256A>G (p.Asn419Ser)	NOS2 (N419S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249281	NM_000625.4(NOS2):c.1243G>A (p.Val415Ile)	NOS2 (V415I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513711	NM_000625.4(NOS2):c.1205A>C (p.Glu402Ala)	NOS2 (E402A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916529	NM_000625.4(NOS2):c.1172dup (p.Leu392fs)	NOS2 (L392fs)	Duplication (frameshift variant)	Malaria, susceptibility to	GUncertain significance
Select item 2688251	NM_000625.4(NOS2):c.1155C>T (p.Asp385=)	NOS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2209466	NM_000625.4(NOS2):c.1135G>A (p.Gly379Arg)	NOS2 (G379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712632	NM_000625.4(NOS2):c.1080C>T (p.Gly360=)	NOS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2227494	NM_000625.4(NOS2):c.1065G>C (p.Met355Ile)	NOS2 (M355I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201302	NM_000625.4(NOS2):c.1018C>T (p.Arg340Trp)	NOS2 (R340W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597691	NM_000625.4(NOS2):c.1006T>C (p.Tyr336His)	NOS2 (Y336H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722888	NM_000625.4(NOS2):c.1005-10T>C	NOS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 731814	NM_000625.4(NOS2):c.957C>T (p.Phe319=)	NOS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3201322	NM_000625.4(NOS2):c.890C>T (p.Pro297Leu)	NOS2 (P297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687960	NM_000625.4(NOS2):c.864+22A>G	NOS2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2482210	NM_000625.4(NOS2):c.832A>G (p.Arg278Gly)	NOS2 (R278G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322907	NM_000625.4(NOS2):c.793A>G (p.Ile265Val)	NOS2 (I265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201321	NM_000625.4(NOS2):c.775G>C (p.Val259Leu)	NOS2 (V259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046535	NM_000625.4(NOS2):c.735C>T (p.Thr245=)	NOS2	Single nucleotide variant (synonymous variant)	NOS2-related disorder	GLikely benign
Select item 2687961	NM_000625.4(NOS2):c.722+11A>G	NOS2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2455723	NM_000625.4(NOS2):c.695G>A (p.Arg232His)	NOS2 (R232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321335	NM_000625.4(NOS2):c.683G>T (p.Cys228Phe)	NOS2 (C228F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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