"Ambry Genetics"[submitter] AND "PAPLN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208398	NM_001365906.3(PAPLN):c.11T>C (p.Leu4Pro)	PAPLN (L4P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304227	NM_001365906.3(PAPLN):c.74A>G (p.Gln25Arg)	PAPLN, PAPLN-AS1 (Q25R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2384634	NM_001365906.3(PAPLN):c.152G>A (p.Arg51His)	PAPLN, PAPLN-AS1 (R51H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3304228	NM_001365906.3(PAPLN):c.155C>T (p.Pro52Leu)	PAPLN, PAPLN-AS1 (P52L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2595727	NM_001365906.3(PAPLN):c.188G>A (p.Ser63Asn)	PAPLN, PAPLN-AS1 (S63N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2463555	NM_001365906.3(PAPLN):c.244G>A (p.Gly82Ser)	LOC130056046, PAPLN (G82S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327177	NM_001365906.3(PAPLN):c.247G>T (p.Ala83Ser)	LOC130056046, PAPLN (A83S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524852	NM_001365906.3(PAPLN):c.251G>A (p.Arg84Gln)	LOC130056046, PAPLN (R84Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304215	NM_001365906.3(PAPLN):c.259C>T (p.Arg87Trp)	LOC130056046, PAPLN (R87W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208410	NM_001365906.3(PAPLN):c.299A>T (p.Gln100Leu)	PAPLN (Q100L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208411	NM_001365906.3(PAPLN):c.305G>A (p.Arg102Gln)	PAPLN (R102Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370803	NM_001365906.3(PAPLN):c.307C>T (p.Arg103Trp)	PAPLN (R103W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2564823	NM_001365906.3(PAPLN):c.428C>T (p.Pro143Leu)	PAPLN (P143L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208414	NM_001365906.3(PAPLN):c.435G>C (p.Lys145Asn)	PAPLN (K145N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208415	NM_001365906.3(PAPLN):c.497C>T (p.Ser166Phe)	PAPLN (S166F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215807	NM_001365906.3(PAPLN):c.572C>T (p.Ala191Val)	PAPLN (A191V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509355	NM_001365906.3(PAPLN):c.587G>A (p.Arg196Gln)	PAPLN (R196Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237226	NM_001365906.3(PAPLN):c.686G>A (p.Arg229His)	PAPLN (R229H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304224	NM_001365906.3(PAPLN):c.704A>G (p.Asn235Ser)	PAPLN (N208S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208416	NM_001365906.3(PAPLN):c.725C>T (p.Ala242Val)	PAPLN (A215V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304214	NM_001365906.3(PAPLN):c.730C>T (p.Arg244Trp)	PAPLN (R244W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208417	NM_001365906.3(PAPLN):c.731G>C (p.Arg244Pro)	PAPLN (R217P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304231	NM_001365906.3(PAPLN):c.766G>A (p.Glu256Lys)	PAPLN (E229K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208418	NM_001365906.3(PAPLN):c.769C>T (p.Arg257Trp)	PAPLN (R230W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510720	NM_001365906.3(PAPLN):c.770G>A (p.Arg257Gln)	PAPLN (R257Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208419	NM_001365906.3(PAPLN):c.800G>A (p.Arg267Gln)	PAPLN (R240Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208420	NM_001365906.3(PAPLN):c.812G>A (p.Arg271Gln)	PAPLN (R271Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304213	NM_001365906.3(PAPLN):c.839T>C (p.Ile280Thr)	PAPLN (I280T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594552	NM_001365906.3(PAPLN):c.964G>A (p.Gly322Arg)	PAPLN (G295R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208421	NM_001365906.3(PAPLN):c.979C>G (p.Arg327Gly)	PAPLN (R327G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208422	NM_001365906.3(PAPLN):c.1033C>T (p.Arg345Cys)	PAPLN (R318C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382433	NM_001365906.3(PAPLN):c.1042C>T (p.Arg348Trp)	PAPLN (R321W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487101	NM_001365906.3(PAPLN):c.1061C>G (p.Ser354Cys)	PAPLN (S327C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518713	NM_001365906.3(PAPLN):c.1082C>T (p.Pro361Leu)	PAPLN (P334L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557731	NM_001365906.3(PAPLN):c.1103C>T (p.Ala368Val)	PAPLN (A341V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208393	NM_001365906.3(PAPLN):c.1115C>T (p.Ala372Val)	PAPLN (A345V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208394	NM_001365906.3(PAPLN):c.1117C>T (p.Pro373Ser)	PAPLN (P373S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208395	NM_001365906.3(PAPLN):c.1149G>T (p.Gln383His)	PAPLN (Q356H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216386	NM_001365906.3(PAPLN):c.1159G>A (p.Val387Met)	PAPLN (V387M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208396	NM_001365906.3(PAPLN):c.1267C>G (p.Arg423Gly)	PAPLN (R396G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208397	NM_001365906.3(PAPLN):c.1271G>A (p.Cys424Tyr)	PAPLN (C397Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606041	NM_001365906.3(PAPLN):c.1292C>T (p.Pro431Leu)	PAPLN (P431L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369911	NM_001365906.3(PAPLN):c.1330C>T (p.Arg444Trp)	PAPLN (R417W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319006	NM_001365906.3(PAPLN):c.1336C>T (p.Arg446Trp)	PAPLN (R419W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313599	NM_001365906.3(PAPLN):c.1342G>A (p.Val448Ile)	PAPLN (V421I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304218	NM_001365906.3(PAPLN):c.1352G>A (p.Arg451Gln)	PAPLN (R424Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2494459	NM_001365906.3(PAPLN):c.1379C>T (p.Thr460Ile)	PAPLN (T433I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391597	NM_001365906.3(PAPLN):c.1401C>A (p.Asp467Glu)	PAPLN (D467E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457164	NM_001365906.3(PAPLN):c.1403G>A (p.Arg468Gln)	PAPLN (R441Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2466214	NM_001365906.3(PAPLN):c.1442C>G (p.Pro481Arg)	PAPLN (P481R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304229	NM_001365906.3(PAPLN):c.1450A>C (p.Ser484Arg)	PAPLN (S457R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2245461	NM_001365906.3(PAPLN):c.1451G>A (p.Ser484Asn)	PAPLN (S457N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352762	NM_001365906.3(PAPLN):c.1508G>C (p.Gly503Ala)	PAPLN (G503A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277049	NM_001365906.3(PAPLN):c.1514G>A (p.Arg505Gln)	PAPLN (R478Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408960	NM_001365906.3(PAPLN):c.1520G>A (p.Arg507Gln)	PAPLN (R480Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541321	NM_001365906.3(PAPLN):c.1613G>A (p.Cys538Tyr)	PAPLN (C538Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208400	NM_001365906.3(PAPLN):c.1668C>A (p.Asn556Lys)	PAPLN (N529K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304221	NM_001365906.3(PAPLN):c.1678C>T (p.Pro560Ser)	PAPLN (P533S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3304225	NM_001365906.3(PAPLN):c.1732G>A (p.Ala578Thr)	PAPLN (A551T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304219	NM_001365906.3(PAPLN):c.1795C>G (p.Gln599Glu)	PAPLN (Q599E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372114	NM_001365906.3(PAPLN):c.1864C>T (p.Arg622Trp)	PAPLN (R595W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460316	NM_001365906.3(PAPLN):c.1865G>A (p.Arg622Gln)	PAPLN (R595Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2593795	NM_001365906.3(PAPLN):c.1868C>T (p.Ser623Leu)	PAPLN (S596L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513400	NM_001365906.3(PAPLN):c.1918G>A (p.Asp640Asn)	PAPLN (D613N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304216	NM_001365906.3(PAPLN):c.1928C>T (p.Thr643Met)	PAPLN (T616M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304222	NM_001365906.3(PAPLN):c.2029C>T (p.His677Tyr)	PAPLN (H677Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208401	NM_001365906.3(PAPLN):c.2079G>A (p.Met693Ile)	PAPLN (M666I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380065	NM_001365906.3(PAPLN):c.2158C>T (p.Arg720Trp)	PAPLN (R693W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547617	NM_001365906.3(PAPLN):c.2186A>G (p.Asp729Gly)	PAPLN (D702G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274271	NM_001365906.3(PAPLN):c.2241C>G (p.Ser747Arg)	PAPLN (S720R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600205	NM_001365906.3(PAPLN):c.2254G>A (p.Val752Met)	PAPLN (V725M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2381344	NM_001365906.3(PAPLN):c.2306G>A (p.Arg769His)	PAPLN (R742H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342036	NM_001365906.3(PAPLN):c.2317G>A (p.Val773Ile)	PAPLN (V746I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3208402	NM_001365906.3(PAPLN):c.2330G>A (p.Gly777Asp)	PAPLN (G750D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304223	NM_001365906.3(PAPLN):c.2349G>T (p.Trp783Cys)	PAPLN (W767C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490008	NM_001365906.3(PAPLN):c.2356G>A (p.Gly786Ser)	PAPLN (G759S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322807	NM_001365906.3(PAPLN):c.2363A>G (p.His788Arg)	PAPLN (H761R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208403	NM_001365906.3(PAPLN):c.2387C>T (p.Ser796Leu)	PAPLN (S796L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482291	NM_001365906.3(PAPLN):c.2419T>A (p.Ser807Thr)	PAPLN (S780T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304220	NM_001365906.3(PAPLN):c.2438G>A (p.Arg813His)	PAPLN (R786H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304217	NM_001365906.3(PAPLN):c.2441C>T (p.Pro814Leu)	PAPLN (P798L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208404	NM_001365906.3(PAPLN):c.2485G>A (p.Gly829Ser)	PAPLN (G829S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2217671	NM_001365906.3(PAPLN):c.2566G>A (p.Gly856Ser)	PAPLN (G829S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411804	NM_001365906.3(PAPLN):c.2656T>G (p.Ser886Ala)	PAPLN (S886A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469367	NM_001365906.3(PAPLN):c.2696C>T (p.Ala899Val)	PAPLN (A872V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3208406	NM_001365906.3(PAPLN):c.2722A>G (p.Arg908Gly)	PAPLN (R892G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229625	NM_001365906.3(PAPLN):c.2750C>T (p.Ser917Leu)	PAPLN (S901L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588984	NM_001365906.3(PAPLN):c.2881G>A (p.Gly961Arg)	PAPLN (G934R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388294	NM_001365906.3(PAPLN):c.2906A>G (p.Gln969Arg)	PAPLN (Q942R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2364340	NM_001365906.3(PAPLN):c.2918C>T (p.Ala973Val)	PAPLN (A973V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252317	NM_001365906.3(PAPLN):c.2945G>A (p.Arg982Gln)	PAPLN (R955Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208408	NM_001365906.3(PAPLN):c.2996T>C (p.Met999Thr)	PAPLN (M972T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208409	NM_001365906.3(PAPLN):c.3002T>C (p.Val1001Ala)	PAPLN (V1001A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495181	NM_001365906.3(PAPLN):c.3025C>A (p.Arg1009Ser)	PAPLN (R1009S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605022	NM_001365906.3(PAPLN):c.3059T>C (p.Phe1020Ser)	PAPLN (F1004S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2353250	NM_001365906.3(PAPLN):c.3196C>T (p.Arg1066Cys)	PAPLN (R1039C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208412	NM_001365906.3(PAPLN):c.3197G>A (p.Arg1066His)	PAPLN (R1050H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285022	NM_001365906.3(PAPLN):c.3241G>A (p.Gly1081Arg)	PAPLN (G1054R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495953	NM_001365906.3(PAPLN):c.3275A>T (p.Gln1092Leu)	PAPLN (Q1065L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208413	NM_001365906.3(PAPLN):c.3345C>G (p.Phe1115Leu)	PAPLN (F1115L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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