NPPA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
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 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 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 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
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 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
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 150812	GRCh38/hg38 1p36.22(chr1:11737130-12006139)x3	AGTRAP, C1orf167 +28 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 17788	NM_006172.4(NPPA):c.456_*1del (p.Ter152TrpextTer?)	NPPA, NPPA-AS1	Deletion (frameshift variant +1 more)	Atrial fibrillation, familial, 6	GPathogenic
Select item 1460707	NM_006172.4(NPPA):c.454_455inv (p.Ter152Gln)	NPPA, NPPA-AS1	Inversion (stop lost)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 226855	NM_006172.4(NPPA):c.454T>C (p.Ter152Arg)	NPPA, NPPA-AS1	Single nucleotide variant (stop lost)	Atrial fibrillation, familial, 6 +2 more	GBenign
Select item 1130147	NM_006172.4(NPPA):c.451-4G>T	NPPA, NPPA-AS1	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 1107437	NM_006172.4(NPPA):c.451-9T>G	NPPA, NPPA-AS1	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 2179668	NM_006172.4(NPPA):c.451-16T>C	NPPA, NPPA-AS1	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 2900035	NM_006172.4(NPPA):c.451-18T>A	NPPA, NPPA-AS1	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 6	GLikely benign
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 2715969	NM_006172.4(NPPA):c.450+20G>A	LOC114827827, NPPA +1 more	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 2965141	NM_006172.4(NPPA):c.450+16G>A	LOC114827827, NPPA +1 more	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 2144989	NM_006172.4(NPPA):c.450+16del	LOC114827827, NPPA +1 more	Deletion (intron variant)	Atrial fibrillation, familial, 6	GBenign
Select item 2901893	NM_006172.4(NPPA):c.450+8G>A	LOC114827827, NPPA +1 more	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 126846	NM_006172.4(NPPA):c.449G>A (p.Arg150Gln)	LOC114827827, NPPA +1 more (R150Q)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6 +1 more	GConflicting classifications of pathogenicity
Select item 1297505	NM_006172.4(NPPA):c.448C>T (p.Arg150Trp)	LOC114827827, NPPA +1 more (R150W)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2992757	NM_006172.4(NPPA):c.447C>G (p.Phe149Leu)	LOC114827827, NPPA +1 more (F149L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2739893	NM_006172.4(NPPA):c.441C>T (p.Asn147=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 2998563	NM_006172.4(NPPA):c.435C>T (p.Gly145=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 917719	NM_006172.4(NPPA):c.426C>T (p.Ser142=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 469608	NM_006172.4(NPPA):c.425G>A (p.Ser142Asn)	LOC114827827, NPPA +1 more (S142N)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2917162	NM_006172.4(NPPA):c.423G>A (p.Gln141=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 1356904	NM_006172.4(NPPA):c.413T>C (p.Ile138Thr)	LOC114827827, NPPA +1 more (I138T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2813609	NM_006172.4(NPPA):c.410G>A (p.Arg137Lys)	LOC114827827, NPPA +1 more (R137K)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 1441707	NM_006172.4(NPPA):c.393C>A (p.Phe131Leu)	LOC114827827, NPPA +1 more (F131L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 1097272	NM_006172.4(NPPA):c.393C>T (p.Phe131=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 1136329	NM_006172.4(NPPA):c.390C>T (p.Cys130=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 2917042	NM_006172.4(NPPA):c.387C>T (p.Ser129=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 872949	NM_006172.4(NPPA):c.377G>A (p.Arg126Gln)	LOC114827827, NPPA +1 more (R126Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1426372	NM_006172.4(NPPA):c.376C>T (p.Arg126Trp)	LOC114827827, NPPA +1 more (R126W)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 1080824	NM_006172.4(NPPA):c.375G>A (p.Leu125=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6 +2 more	GLikely benign
Select item 1446927	NM_006172.4(NPPA):c.372C>A (p.Ser124Arg)	LOC114827827, NPPA +1 more (S124R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 574575	NM_006172.4(NPPA):c.370A>G (p.Ser124Gly)	LOC114827827, NPPA +1 more (S124G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 936415	NM_006172.4(NPPA):c.368G>A (p.Arg123Gln)	LOC114827827, NPPA +1 more (R123Q)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2910944	NM_006172.4(NPPA):c.367C>T (p.Arg123Trp)	LOC114827827, NPPA +1 more (R123W)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 652171	NM_006172.4(NPPA):c.367C>A (p.Arg123=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2156282	NM_006172.4(NPPA):c.363C>T (p.Ala121=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 1517080	NM_006172.4(NPPA):c.358A>G (p.Thr120Ala)	LOC114827827, NPPA +1 more (T120A)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 840195	NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del)	LOC114827827, NPPA +1 more	Deletion (inframe_deletion)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 578290	NM_006172.4(NPPA):c.352C>A (p.Leu118Met)	LOC114827827, NPPA +1 more (L118M)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1549484	NM_006172.4(NPPA):c.351G>A (p.Ala117=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 643252	NM_006172.4(NPPA):c.350C>T (p.Ala117Val)	NPPA, NPPA-AS1 +1 more (A117V)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 1376005	NM_006172.4(NPPA):c.347G>A (p.Arg116Lys)	LOC114827827, NPPA +1 more (R116K)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 1061540	NM_006172.4(NPPA):c.338G>C (p.Ser113Thr)	LOC114827827, NPPA +1 more (S113T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 967364	NM_006172.4(NPPA):c.337A>G (p.Ser113Gly)	LOC114827827, NPPA +1 more (S113G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2159614	NM_006172.4(NPPA):c.336A>G (p.Lys112=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 2107024	NM_006172.4(NPPA):c.329T>C (p.Leu110Pro)	LOC114827827, NPPA +1 more (L110P)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2779344	NM_006172.4(NPPA):c.327C>T (p.Ala109=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 2046566	NM_006172.4(NPPA):c.320G>C (p.Arg107Pro)	LOC114827827, NPPA +1 more (R107P)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 1979228	NM_006172.4(NPPA):c.320G>T (p.Arg107Leu)	LOC114827827, NPPA +1 more (R107L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 1376478	NM_006172.4(NPPA):c.320G>A (p.Arg107Gln)	LOC114827827, NPPA +1 more (R107Q)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 948535	NM_006172.4(NPPA):c.319C>T (p.Arg107Ter)	LOC114827827, NPPA +1 more (R107*)	Single nucleotide variant (nonsense)	Atrial fibrillation, familial, 6 +1 more	GUncertain significance
Select item 998849	NM_006172.4(NPPA):c.316G>C (p.Asp106His)	LOC114827827, NPPA +1 more (D106H)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2115940	NM_006172.4(NPPA):c.305G>A (p.Trp102Ter)	LOC114827827, NPPA +1 more (W102*)	Single nucleotide variant (nonsense)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2877240	NM_006172.4(NPPA):c.297G>C (p.Arg99=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 415936	NM_006172.4(NPPA):c.292G>A (p.Gly98Arg)	LOC114827827, NPPA +1 more (G98R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 1586831	NM_006172.4(NPPA):c.291C>T (p.Leu97=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 1936552	NM_006172.4(NPPA):c.281G>T (p.Gly94Val)	LOC114827827, NPPA +1 more (G94V)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 449329	NM_006172.4(NPPA):c.279T>G (p.Asp93Glu)	LOC114827827, NPPA +1 more (D93E)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6 +1 more	GUncertain significance
Select item 537322	NM_006172.4(NPPA):c.277_278del (p.Asp93fs)	LOC114827827, NPPA +1 more (D93fs)	Microsatellite (frameshift variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 469607	NM_006172.4(NPPA):c.272A>G (p.Gln91Arg)	LOC114827827, NPPA +1 more (Q91R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2871910	NM_006172.4(NPPA):c.266C>A (p.Pro89Gln)	NPPA, LOC114827827 +1 more (P89Q)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 1102146	NM_006172.4(NPPA):c.264C>T (p.Ser88=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 1077240	NM_006172.4(NPPA):c.255G>A (p.Gly85=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 240293	NM_006172.4(NPPA):c.253G>A (p.Gly85Arg)	LOC114827827, NPPA +1 more (G85R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6 +1 more	GUncertain significance
Select item 240292	NM_006172.4(NPPA):c.252C>T (p.Thr84=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	GLikely benign
Select item 1934741	NM_006172.4(NPPA):c.250A>C (p.Thr84Pro)	LOC114827827, NPPA +1 more (T84P)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 1346660	NM_006172.4(NPPA):c.242C>G (p.Pro81Arg)	LOC114827827, NPPA +1 more (P81R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance

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