"GeneDx"[submitter] AND "NOS1AP"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	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 1246513	NC_000001.11:g.162069604G>T	LOC129931796, NOS1AP	Single nucleotide 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 1298249	NM_014697.3(NOS1AP):c.105+233C>A	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 1247690	NM_014697.3(NOS1AP):c.178-259A>G	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 1226935	NM_014697.3(NOS1AP):c.270+55A>G	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 1288060	NM_014697.3(NOS1AP):c.270+265T>C	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 1316249	NM_014697.3(NOS1AP):c.345-228C>T	NOS1AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298248	NM_014697.3(NOS1AP):c.345-172T>C	NOS1AP	Single nucleotide variant (intron 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 1231982	NM_014697.3(NOS1AP):c.454-240T>A	NOS1AP	Single nucleotide variant (intron variant)	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 1183943	NM_014697.3(NOS1AP):c.454-28T>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 769245	NM_014697.3(NOS1AP):c.615C>T (p.Ala205=)	NOS1AP	Single nucleotide variant (synonymous variant)	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 1239315	NM_014697.3(NOS1AP):c.762+226G>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 1235178	NM_014697.3(NOS1AP):c.940-318_940-317insCACG	NOS1AP	Insertion (5 prime UTR variant +1 more)	not provided	GBenign
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 1241685	NM_014697.3(NOS1AP):c.940-313_940-312insGTGC	NOS1AP	Insertion (5 prime UTR variant +1 more)	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 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 1251683	NM_014697.3(NOS1AP):c.1105+65T>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 1240585	NM_014697.3(NOS1AP):c.1106-303A>G	NOS1AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 36661	NM_014697.3(NOS1AP):c.1217C>T (p.Ala406Val)	NOS1AP (A406V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign

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Items: 33