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

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 57721	GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	C1orf167-AS1, AADACL3 +104 more	Copy number gain	See cases	GUncertain significance
Select item 57722	GRCh38/hg38 1p36.22(chr1:11737130-12169786)x3	AGTRAP, C1orf167 +62 more	Copy number gain	See cases	GUncertain significance
Select item 1276720	NM_006172.4(NPPA):c.258_268del	NPPA, NPPA-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1296344	NM_006172.4(NPPA):c.*215T>C	NPPA, NPPA-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1296345	NM_006172.4(NPPA):c.*92T>C	NPPA, NPPA-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1233521	NM_006172.4(NPPA):c.*85T>C	NPPA, NPPA-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1223314	NM_006172.4(NPPA):c.*71G>T	NPPA, NPPA-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 226855	NM_006172.4(NPPA):c.454T>C (p.Ter152Arg)	NPPA, NPPA-AS1	Single nucleotide variant (stop lost)	not provided +2 more	GBenign
Select item 1282231	NM_006172.4(NPPA):c.451-323dup	NPPA, NPPA-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1182455	NM_006172.4(NPPA):c.450+257G>C	NPPA, NPPA-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181476	NM_006172.4(NPPA):c.450+210A>G	NPPA-AS1, NPPA +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296379	NM_006172.4(NPPA):c.450+200_450+201del	LOC114827827, NPPA +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1178505	NM_006172.4(NPPA):c.450+201del	LOC114827827, NPPA +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1226929	NM_006172.4(NPPA):c.450+182dup	LOC114827827, NPPA +1 more	Duplication (intron variant)	not provided	GBenign
Select item 1296343	NM_006172.4(NPPA):c.450+189A>G	LOC114827827, NPPA +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449329	NM_006172.4(NPPA):c.279T>G (p.Asp93Glu)	LOC114827827, NPPA +1 more (D93E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 432823	NM_006172.4(NPPA):c.206A>C (p.Glu69Ala)	LOC114827827, NPPA +1 more (E69A)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6 +1 more	GUncertain significance
Select item 1257866	NM_006172.4(NPPA):c.123+52G>A	LOC114827827, NPPA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 36663	NM_006172.4(NPPA):c.123+16C>T	LOC114827827, NPPA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiac arrhythmia +3 more	GBenign
Select item 1169995	NM_006172.4(NPPA):c.94G>A (p.Val32Met)	LOC114827827, NPPA +1 more (V32M)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrial fibrillation, familial, 6 +1 more	GBenign
Select item 1252882	NC_000001.11:g.11848110C>T	LOC114827827, NPPA	Single nucleotide variant	not provided	GBenign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic

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Items: 29