PLA2R1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 3214216	NM_007366.5(PLA2R1):c.4382G>C (p.Ser1461Thr)	PLA2R1 (S1461T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307230	NM_007366.5(PLA2R1):c.4369G>A (p.Asp1457Asn)	PLA2R1 (D1457N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307226	NM_007366.5(PLA2R1):c.4304G>A (p.Arg1435Gln)	PLA2R1 (R1433Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214215	NM_007366.5(PLA2R1):c.4148T>G (p.Ile1383Ser)	PLA2R1 (I1381S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372712	NM_007366.5(PLA2R1):c.4103C>T (p.Pro1368Leu)	PLA2R1 (P1368L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214214	NM_007366.5(PLA2R1):c.4054C>T (p.His1352Tyr)	PLA2R1 (H1352Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216669	NM_007366.5(PLA2R1):c.4036A>G (p.Thr1346Ala)	PLA2R1 (T1344A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511197	NM_007366.5(PLA2R1):c.4019G>T (p.Gly1340Val)	PLA2R1 (G1338V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345471	NM_007366.5(PLA2R1):c.3977T>C (p.Ile1326Thr)	PLA2R1 (I1324T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284662	NM_007366.5(PLA2R1):c.3976A>C (p.Ile1326Leu)	PLA2R1 (I1324L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1712414	NM_007366.5(PLA2R1):c.3857_3861del (p.Asn1286fs)	PLA2R1 (N1286fs)	Deletion (frameshift variant)	Kidney disorder	GUncertain significance
Select item 3214212	NM_007366.5(PLA2R1):c.3670G>A (p.Glu1224Lys)	PLA2R1 (E1224K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651462	NM_007366.5(PLA2R1):c.3645C>T (p.Asn1215=)	PLA2R1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2235716	NM_007366.5(PLA2R1):c.3628G>A (p.Val1210Ile)	PLA2R1 (V1210I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282998	NM_007366.5(PLA2R1):c.3611C>T (p.Ser1204Phe)	PLA2R1 (S1204F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271328	NM_007366.5(PLA2R1):c.3611C>G (p.Ser1204Cys)	PLA2R1 (S1204C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307221	NM_007366.5(PLA2R1):c.3603G>T (p.Glu1201Asp)	PLA2R1 (E1201D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1712479	NM_007366.5(PLA2R1):c.3570C>T (p.Gly1190=)	PLA2R1	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 2606303	NM_007366.5(PLA2R1):c.3436A>G (p.Lys1146Glu)	PLA2R1 (K1146E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554175	NM_007366.5(PLA2R1):c.3401C>G (p.Thr1134Ser)	PLA2R1 (T1134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1712437	NM_007366.5(PLA2R1):c.3316G>A (p.Gly1106Ser)	PLA2R1 (G1106S)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GBenign
Select item 2333998	NM_007366.5(PLA2R1):c.3314A>G (p.His1105Arg)	PLA2R1 (H1105R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521955	NM_007366.5(PLA2R1):c.3272G>A (p.Gly1091Asp)	PLA2R1 (G1091D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214211	NM_007366.5(PLA2R1):c.3265A>G (p.Lys1089Glu)	PLA2R1 (K1089E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594411	NM_007366.5(PLA2R1):c.3067A>G (p.Ile1023Val)	PLA2R1 (I1023V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214210	NM_007366.5(PLA2R1):c.3037A>T (p.Asn1013Tyr)	PLA2R1 (N1013Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357668	NM_007366.5(PLA2R1):c.3008G>A (p.Ser1003Asn)	PLA2R1 (S1003N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214209	NM_007366.5(PLA2R1):c.3002T>C (p.Ile1001Thr)	PLA2R1 (I1001T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307222	NM_007366.5(PLA2R1):c.2998G>A (p.Ala1000Thr)	PLA2R1 (A1000T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214208	NM_007366.5(PLA2R1):c.2998G>T (p.Ala1000Ser)	PLA2R1 (A1000S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474576	NM_007366.5(PLA2R1):c.2984G>C (p.Gly995Ala)	PLA2R1 (G995A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227522	NM_007366.5(PLA2R1):c.2954C>A (p.Thr985Lys)	PLA2R1 (T985K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307228	NM_007366.5(PLA2R1):c.2819A>G (p.Lys940Arg)	PLA2R1 (K940R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214207	NM_007366.5(PLA2R1):c.2818A>G (p.Lys940Glu)	PLA2R1 (K940E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214205	NM_007366.5(PLA2R1):c.2777G>C (p.Ser926Thr)	PLA2R1 (S926T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570474	NM_007366.5(PLA2R1):c.2651A>G (p.Asp884Gly)	PLA2R1 (D884G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359800	NM_007366.5(PLA2R1):c.2645C>T (p.Ala882Val)	PLA2R1 (A882V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214204	NM_007366.5(PLA2R1):c.2606A>G (p.Tyr869Cys)	PLA2R1 (Y869C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364535	NM_007366.5(PLA2R1):c.2492C>T (p.Ser831Leu)	PLA2R1 (S831L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356819	NM_007366.5(PLA2R1):c.2465C>G (p.Ala822Gly)	PLA2R1 (A822G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307224	NM_007366.5(PLA2R1):c.2438A>G (p.Asp813Gly)	PLA2R1 (D813G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216129	NM_007366.5(PLA2R1):c.2404G>A (p.Val802Met)	PLA2R1 (V802M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611960	NM_007366.5(PLA2R1):c.2176T>A (p.Phe726Ile)	PLA2R1 (F726I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214203	NM_007366.5(PLA2R1):c.2168A>G (p.His723Arg)	PLA2R1 (H723R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1712476	NM_007366.5(PLA2R1):c.2096G>A (p.Cys699Tyr)	PLA2R1 (C699Y)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 2559022	NM_007366.5(PLA2R1):c.2064G>A (p.Met688Ile)	PLA2R1 (M688I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412563	NM_007366.5(PLA2R1):c.1957G>T (p.Ala653Ser)	PLA2R1 (A653S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1712458	NM_007366.5(PLA2R1):c.1957del (p.Ala653fs)	PLA2R1 (A653fs)	Deletion (frameshift variant)	Kidney disorder	GBenign
Select item 1712390	NM_007366.5(PLA2R1):c.1956A>C (p.Lys652Asn)	PLA2R1 (K652N)	Single nucleotide variant (missense variant)	Kidney disorder	GBenign
Select item 2209380	NM_007366.5(PLA2R1):c.1903C>T (p.Arg635Trp)	PLA2R1 (R635W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208215	NM_007366.5(PLA2R1):c.1883G>T (p.Arg628Leu)	PLA2R1 (R628L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214201	NM_007366.5(PLA2R1):c.1882C>T (p.Arg628Cys)	PLA2R1 (R628C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723685	NM_007366.5(PLA2R1):c.1814A>C (p.His605Pro)	PLA2R1 (H605P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2349117	NM_007366.5(PLA2R1):c.1799C>T (p.Pro600Leu)	PLA2R1 (P600L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307227	NM_007366.5(PLA2R1):c.1751A>G (p.Asn584Ser)	PLA2R1 (N584S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154464	GRCh38/hg38 2q24.2(chr2:160005773-161921922)x1	TANK-AS1, TBR1 +58 more	Copy number loss	See cases	GLikely pathogenic
Select item 3214200	NM_007366.5(PLA2R1):c.1498A>G (p.Ile500Val)	PLA2R1 (I500V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312477	NM_007366.5(PLA2R1):c.1476T>G (p.Asn492Lys)	PLA2R1 (N492K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347646	NM_007366.5(PLA2R1):c.1464G>C (p.Trp488Cys)	PLA2R1 (W488C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521386	NM_007366.5(PLA2R1):c.1420A>G (p.Arg474Gly)	PLA2R1 (R474G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616232	NM_007366.5(PLA2R1):c.1406A>G (p.His469Arg)	PLA2R1 (H469R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454939	NM_007366.5(PLA2R1):c.1397T>C (p.Leu466Pro)	PLA2R1 (L466P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367402	NM_007366.5(PLA2R1):c.1394C>T (p.Thr465Ile)	PLA2R1 (T465I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214198	NM_007366.5(PLA2R1):c.1372G>C (p.Val458Leu)	PLA2R1 (V458L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297024	NM_007366.5(PLA2R1):c.1316T>C (p.Ile439Thr)	PLA2R1 (I439T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651463	NM_007366.5(PLA2R1):c.1110G>A (p.Ala370=)	PLA2R1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2212272	NM_007366.5(PLA2R1):c.1031G>A (p.Arg344Gln)	PLA2R1 (R344Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268762	NM_007366.5(PLA2R1):c.1012C>G (p.Pro338Ala)	PLA2R1 (P338A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212239	NM_007366.5(PLA2R1):c.901G>A (p.Ala301Thr)	PLA2R1 (A301T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1712438	NM_007366.5(PLA2R1):c.898C>G (p.His300Asp)	PLA2R1 (H300D)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GBenign
Select item 2482960	NM_007366.5(PLA2R1):c.893A>C (p.Asp298Ala)	PLA2R1 (D298A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214222	NM_007366.5(PLA2R1):c.884A>G (p.Asn295Ser)	PLA2R1 (N295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730506	NM_007366.5(PLA2R1):c.882C>T (p.Leu294=)	PLA2R1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623485	NM_007366.5(PLA2R1):c.875T>C (p.Met292Thr)	PLA2R1 (M292T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1712439	NM_007366.5(PLA2R1):c.874A>G (p.Met292Val)	PLA2R1 (M292V)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GBenign
Select item 1712356	NM_007366.5(PLA2R1):c.816T>C (p.Asp272=)	PLA2R1	Single nucleotide variant (synonymous variant)	Kidney disorder	GLikely benign
Select item 3214221	NM_007366.5(PLA2R1):c.725G>A (p.Cys242Tyr)	PLA2R1 (C242Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214220	NM_007366.5(PLA2R1):c.694A>G (p.Ile232Val)	PLA2R1 (I232V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214219	NM_007366.5(PLA2R1):c.581G>A (p.Arg194His)	PLA2R1 (R194H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214218	NM_007366.5(PLA2R1):c.580C>T (p.Arg194Cys)	PLA2R1 (R194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214217	NM_007366.5(PLA2R1):c.566A>G (p.His189Arg)	PLA2R1 (H189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410504	NM_007366.5(PLA2R1):c.523G>A (p.Gly175Arg)	PLA2R1 (G175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307231	NM_007366.5(PLA2R1):c.507C>G (p.Ile169Met)	PLA2R1 (I169M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510291	NM_007366.5(PLA2R1):c.448T>C (p.Ser150Pro)	PLA2R1 (S150P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282186	NM_007366.5(PLA2R1):c.439A>G (p.Lys147Glu)	PLA2R1 (K147E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1712357	NM_007366.5(PLA2R1):c.425G>A (p.Arg142Gln)	PLA2R1 (R142Q)	Single nucleotide variant (missense variant)	Kidney disorder	GLikely benign
Select item 3307229	NM_007366.5(PLA2R1):c.400C>T (p.His134Tyr)	PLA2R1 (H134Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307225	NM_007366.5(PLA2R1):c.361A>G (p.Met121Val)	PLA2R1 (M121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307223	NM_007366.5(PLA2R1):c.331G>A (p.Val111Ile)	PLA2R1 (V111I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214199	NM_007366.5(PLA2R1):c.139A>T (p.Ser47Cys)	PLA2R1 (S47C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1712351	NM_007366.5(PLA2R1):c.86C>G (p.Pro29Arg)	PLA2R1 (P29R)	Single nucleotide variant (missense variant)	Kidney disorder +1 more	GUncertain significance
Select item 2556941	NM_007366.5(PLA2R1):c.50G>C (p.Arg17Pro)	PLA2R1 (R17P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307220	NM_007366.5(PLA2R1):c.14C>G (p.Pro5Arg)	PLA2R1 (P5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1712473	NM_007366.5(PLA2R1):c.-127del	PLA2R1	Deletion (5 prime UTR variant)	Kidney disorder	GLikely benign
Select item 3062503	GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1	CCDC148, CD302 +29 more	Copy number loss	not specified	GPathogenic
Select item 2505361	GRCh37/hg19 2q24.2(chr2:159844069-161073462)	BAZ2B, CD302 +7 more	Copy number loss	BAZ2B-related disorder	GPathogenic

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