ClinVar for Gene (Select 100379251) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300836	NM_006172.4(NPPA):c.128T>C (p.Leu43Ser)	LOC114827827, NPPA +1 more (L43S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 2917047	NM_006172.4(NPPA):c.123+7C>T	LOC114827827, NPPA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	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 2910944	NM_006172.4(NPPA):c.367C>T (p.Arg123Trp)	NPPA-AS1, LOC114827827 +1 more (R123W)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
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 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 2895411	NM_006172.4(NPPA):c.124-5T>C	LOC114827827, NPPA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Atrial fibrillation, familial, 6	GLikely benign
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 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 2815984	NM_006172.4(NPPA):c.73G>A (p.Ala25Thr)	LOC114827827, NPPA +1 more (A25T)	Single nucleotide variant (non-coding transcript variant +1 more)	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 2803679	NM_006172.4(NPPA):c.110T>C (p.Leu37Pro)	LOC114827827, NPPA +1 more (L37P)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 2731148	NM_006172.4(NPPA):c.140T>G (p.Leu47Trp)	LOC114827827, NPPA +1 more (L47W)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
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 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2414020	NM_006172.4(NPPA):c.102C>T (p.Asn34=)	LOC114827827, NPPA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Atrial fibrillation, familial, 6	GLikely benign
Select item 2192502	NM_006172.4(NPPA):c.210G>A (p.Ala70=)	NPPA-AS1, LOC114827827 +1 more	Single nucleotide variant (synonymous 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 2176686	NM_006172.4(NPPA):c.124-28_124-19del	LOC114827827, NPPA +1 more	Deletion (non-coding transcript variant +1 more)	Atrial fibrillation, familial, 6	GLikely benign
Select item 2160177	NM_006172.4(NPPA):c.179C>G (p.Pro60Arg)	LOC114827827, NPPA +1 more (P60R)	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 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 2151137	NM_006172.4(NPPA):c.196C>A (p.Pro66Thr)	LOC114827827, NPPA +1 more (P66T)	Single nucleotide variant (missense 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 2136334	NM_006172.4(NPPA):c.229del (p.Leu77fs)	LOC114827827, NPPA +1 more (L77fs)	Deletion (frameshift variant)	Atrial fibrillation, familial, 6 +1 more	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 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 2063054	NM_006172.4(NPPA):c.124-12C>T	LOC114827827, NPPA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	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 2042222	NM_006172.4(NPPA):c.165T>G (p.Asp55Glu)	LOC114827827, NPPA +1 more (D55E)	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 1973676	NM_006172.4(NPPA):c.159AGA[1] (p.Glu54del)	LOC114827827, NPPA +1 more (E54del)	Microsatellite (inframe_deletion)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 1963972	NM_006172.4(NPPA):c.114G>A (p.Met38Ile)	LOC114827827, NPPA +1 more (M38I)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrial fibrillation, familial, 6	GUncertain significance
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 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 1910905	NM_006172.4(NPPA):c.123+17G>A	LOC114827827, NPPA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Atrial fibrillation, familial, 6	GLikely benign
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 1705171	NM_006172.4(NPPA):c.217G>A (p.Ala73Thr)	LOC114827827, NPPA +1 more (A73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1587561	NM_006172.4(NPPA):c.124-20T>C	LOC114827827, NPPA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	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 1579839	NM_006172.4(NPPA):c.165T>C (p.Asp55=)	LOC114827827, NPPA +1 more	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 6	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 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 1500523	NM_006172.4(NPPA):c.224G>A (p.Ser75Asn)	LOC114827827, NPPA +1 more (S75N)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 1463836	NM_006172.4(NPPA):c.187C>A (p.Leu63Ile)	NPPA, NPPA-AS1 +1 more (L63I)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
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 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 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 1428068	NM_006172.4(NPPA):c.123G>C (p.Lys41Asn)	LOC114827827, NPPA +1 more (K41N)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 1426806	NM_006172.4(NPPA):c.225C>A (p.Ser75Arg)	LOC114827827, NPPA +1 more (S75R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	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 1417752	NM_006172.4(NPPA):c.123+17G>C	LOC114827827, NPPA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Atrial fibrillation, familial, 6	GLikely benign
Select item 1408346	NM_006172.4(NPPA):c.209C>T (p.Ala70Val)	LOC114827827, NPPA +1 more (A70V)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 1399897	NM_006172.4(NPPA):c.113T>G (p.Met38Arg)	LOC114827827, NPPA +1 more (M38R)	Single nucleotide variant (non-coding transcript variant +1 more)	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 1376244	NM_006172.4(NPPA):c.209C>G (p.Ala70Gly)	LOC114827827, NPPA +1 more (A70G)	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 1362864	NM_006172.4(NPPA):c.134A>G (p.Asp45Gly)	LOC114827827, NPPA +1 more (D45G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
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 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
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 1296379	NM_006172.4(NPPA):c.450+200_450+201del	LOC114827827, NPPA +1 more	Deletion (intron 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 1296344	NM_006172.4(NPPA):c.*215T>C	NPPA, NPPA-AS1	Single nucleotide variant (3 prime UTR 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 1282231	NM_006172.4(NPPA):c.451-323dup	NPPA, NPPA-AS1	Duplication (intron variant)	not provided	GBenign
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 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 1233521	NM_006172.4(NPPA):c.*85T>C	NPPA, NPPA-AS1	Single nucleotide variant (3 prime UTR 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 1223314	NM_006172.4(NPPA):c.*71G>T	NPPA, NPPA-AS1	Single nucleotide variant (3 prime UTR 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 1178505	NM_006172.4(NPPA):c.450+201del	LOC114827827, NPPA +1 more	Deletion (intron variant)	not provided	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)	not provided +1 more	GBenign
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 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 1126535	NM_006172.4(NPPA):c.111G>C (p.Leu37=)	LOC114827827, NPPA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Atrial fibrillation, familial, 6	GLikely benign
Select item 1124185	NM_006172.4(NPPA):c.93C>A (p.Ala31=)	LOC114827827, NPPA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Atrial fibrillation, familial, 6	GLikely benign
Select item 1117996	NM_006172.4(NPPA):c.93C>T (p.Ala31=)	LOC114827827, NPPA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 1100620	NM_006172.4(NPPA):c.124-7T>C	LOC114827827, NPPA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Atrial fibrillation, familial, 6	GLikely benign
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 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 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 1062490	NM_006172.4(NPPA):c.149A>T (p.Lys50Met)	LOC114827827, NPPA +1 more (K50M)	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 1025429	NM_006172.4(NPPA):c.154C>T (p.Pro52Ser)	LOC114827827, NPPA +1 more (P52S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	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 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 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 938596	NM_006172.4(NPPA):c.103G>A (p.Ala35Thr)	LOC114827827, NPPA +1 more (A35T)	Single nucleotide variant (non-coding transcript variant +1 more)	NPPA-related disorder +1 more	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

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