ClinVar for Gene (Select 9722) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300394	NM_014697.3(NOS1AP):c.1219G>A (p.Gly407Ser)	NOS1AP (G112S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201301	NM_014697.3(NOS1AP):c.833C>T (p.Pro278Leu)	NOS1AP (P273L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201299	NM_014697.3(NOS1AP):c.659C>T (p.Ala220Val)	NOS1AP (A220V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201298	NM_014697.3(NOS1AP):c.620G>A (p.Arg207Lys)	NOS1AP (R202K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201297	NM_014697.3(NOS1AP):c.587G>T (p.Gly196Val)	NOS1AP (G191V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201296	NM_014697.3(NOS1AP):c.535A>G (p.Asn179Asp)	NOS1AP (N179D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201295	NM_014697.3(NOS1AP):c.414C>G (p.Ser138Arg)	NOS1AP (S138R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201294	NM_014697.3(NOS1AP):c.220A>T (p.Ile74Phe)	NOS1AP (I74F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201293	NM_014697.3(NOS1AP):c.195G>C (p.Lys65Asn)	NOS1AP (K65N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201292	NM_014697.3(NOS1AP):c.1175C>T (p.Thr392Met)	NOS1AP (T387M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 2639520	NM_014697.3(NOS1AP):c.771C>T (p.His257=)	NOS1AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639519	NM_014697.3(NOS1AP):c.654C>T (p.Ile218=)	NOS1AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630924	NM_014697.3(NOS1AP):c.1349G>C (p.Gly450Ala)	NOS1AP (G155A +2 more)	Single nucleotide variant (missense variant)	NOS1AP-related disorder	GUncertain significance
Select item 2614631	NM_014697.3(NOS1AP):c.617A>G (p.Glu206Gly)	NOS1AP (E201G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610719	NM_014697.3(NOS1AP):c.151A>G (p.Ile51Val)	NOS1AP (I51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581581	NM_014697.3(NOS1AP):c.596-5T>G	NOS1AP	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2553852	NM_014697.3(NOS1AP):c.275T>A (p.Leu92His)	NOS1AP (L92H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553703	NM_014697.3(NOS1AP):c.1285G>C (p.Glu429Gln)	NOS1AP (E424Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496038	NM_014697.3(NOS1AP):c.46C>G (p.Leu16Val)	NOS1AP (L16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429245	NM_014697.3(NOS1AP):c.453+18G>A	NOS1AP	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2409145	NM_014697.3(NOS1AP):c.1001G>A (p.Arg334His)	NOS1AP (R39H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393219	NM_014697.3(NOS1AP):c.771C>A (p.His257Gln)	NOS1AP (H252Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337250	NM_014697.3(NOS1AP):c.346A>G (p.Ile116Val)	NOS1AP (I111V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287396	NM_014697.3(NOS1AP):c.696A>C (p.Glu232Asp)	NOS1AP (E227D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239898	NM_014697.3(NOS1AP):c.1034T>G (p.Met345Arg)	NOS1AP (M340R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206913	NM_014697.3(NOS1AP):c.857C>T (p.Pro286Leu)	NOS1AP (P281L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808712	GRCh37/hg19 1q23.3(chr1:161924068-164761399)x1	ATF6, C1orf226 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 1723262	NM_014697.3(NOS1AP):c.1350C>T (p.Gly450=)	NOS1AP	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1401040	NC_000001.10:g.(?_161816219)_(162040092_?)dup	ATF6, NOS1AP +1 more	Duplication	not provided	GUncertain significance
Select item 1333195	NM_014697.3(NOS1AP):c.1259G>C (p.Gly420Ala)	NOS1AP (G125A +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 22	GUncertain significance
Select item 1321445	NM_014697.3(NOS1AP):c.1317C>A (p.Thr439=)	NOS1AP	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1321444	NM_014697.3(NOS1AP):c.1309G>A (p.Glu437Lys)	NOS1AP (E142K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1316646	NM_014697.3(NOS1AP):c.940-313T>C	NOS1AP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1316249	NM_014697.3(NOS1AP):c.345-228C>T	NOS1AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301367	NM_014697.3(NOS1AP):c.400C>A (p.Arg134=)	NOS1AP	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1298249	NM_014697.3(NOS1AP):c.105+233C>A	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298248	NM_014697.3(NOS1AP):c.345-172T>C	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297293	NM_014697.3(NOS1AP):c.1105+141T>C	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293319	NM_014697.3(NOS1AP):c.564C>T (p.Ser188=)	NOS1AP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1293317	NM_014697.3(NOS1AP):c.345-118C>T	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288060	NM_014697.3(NOS1AP):c.270+265T>C	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280719	NM_014697.3(NOS1AP):c.270+264dup	NOS1AP	Duplication (intron variant)	not provided	GBenign
Select item 1276155	NM_014697.3(NOS1AP):c.-273C>T	LOC129931797, NOS1AP	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1251683	NM_014697.3(NOS1AP):c.1105+65T>C	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248946	NM_014697.3(NOS1AP):c.178-101C>G	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247690	NM_014697.3(NOS1AP):c.178-259A>G	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246513	NC_000001.11:g.162069604G>T	LOC129931796, NOS1AP	Single nucleotide variant	not provided	GBenign
Select item 1241685	NM_014697.3(NOS1AP):c.940-313_940-312insGTGC	NOS1AP	Insertion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1240585	NM_014697.3(NOS1AP):c.1106-303A>G	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239315	NM_014697.3(NOS1AP):c.762+226G>A	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238681	NM_014697.3(NOS1AP):c.940-142C>T	NOS1AP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1237906	NM_014697.3(NOS1AP):c.762+127G>A	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235178	NM_014697.3(NOS1AP):c.940-318_940-317insCACG	NOS1AP	Insertion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1234724	NM_014697.3(NOS1AP):c.454-107A>G	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233083	NM_014697.3(NOS1AP):c.1002C>T (p.Arg334=)	NOS1AP	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 22 +1 more	GBenign
Select item 1231982	NM_014697.3(NOS1AP):c.454-240T>A	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230924	NM_014697.3(NOS1AP):c.345-242G>A	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230186	NM_014697.3(NOS1AP):c.940-2673T>A	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226935	NM_014697.3(NOS1AP):c.270+55A>G	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222171	NM_014697.3(NOS1AP):c.106-250G>C	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183943	NM_014697.3(NOS1AP):c.454-28T>C	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1172862	NM_014697.3(NOS1AP):c.454-6T>A	NOS1AP	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 997885	NM_014697.3(NOS1AP):c.1275G>A (p.Leu425=)	NOS1AP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 995842	NM_014697.3(NOS1AP):c.345-3T>G	NOS1AP	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 22	GPathogenic
Select item 995841	NM_014697.3(NOS1AP):c.428G>A (p.Cys143Tyr)	NOS1AP (C143Y +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 22	GPathogenic
Select item 928810	NM_014697.3(NOS1AP):c.576C>T (p.Ser192=)	NOS1AP	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 928809	NM_014697.3(NOS1AP):c.92G>A (p.Cys31Tyr)	NOS1AP (C31Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 814135	GRCh37/hg19 1q23.3(chr1:162160495-162330927)x1	NOS1AP	Copy number loss	not provided	GUncertain significance
Select item 769245	NM_014697.3(NOS1AP):c.615C>T (p.Ala205=)	NOS1AP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722919	NM_014697.3(NOS1AP):c.1003G>A (p.Val335Met)	NOS1AP (V330M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714274	NM_014697.3(NOS1AP):c.311G>A (p.Ser104Asn)	NOS1AP (S99N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 633340	NM_014697.3(NOS1AP):c.762+8A>G	NOS1AP	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 632926	NM_014697.3(NOS1AP):c.300G>A (p.Thr100=)	NOS1AP	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 565194	GRCh37/hg19 1q23.3(chr1:162315980-162997340)x3	SH2D1B, UAP1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 565192	GRCh37/hg19 1q23.3(chr1:161469309-162517412)x3	FCGR2B, C1orf226 +14 more	Copy number gain	not provided	GUncertain significance
Select item 520535	NM_014697.3(NOS1AP):c.268A>G (p.Lys90Glu)	NOS1AP (K90E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 496433	NM_014697.3(NOS1AP):c.528G>A (p.Thr176=)	NOS1AP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 496432	NM_014697.3(NOS1AP):c.384C>T (p.Ile128=)	NOS1AP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 496431	NM_014697.3(NOS1AP):c.1434G>C (p.Ser478=)	NOS1AP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 496430	NM_014697.3(NOS1AP):c.1205C>T (p.Pro402Leu)	NOS1AP (P402L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 496429	NM_014697.3(NOS1AP):c.40C>A (p.His14Asn)	NOS1AP (H14N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 207948	NM_014697.3(NOS1AP):c.824C>T (p.Ser275Phe)	NOS1AP (S275F +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207947	NM_014697.3(NOS1AP):c.1276G>A (p.Val426Met)	NOS1AP (V426M +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 36662	NM_014697.3(NOS1AP):c.864C>T (p.Ser288=)	NOS1AP	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GBenign/Likely benign

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