button puberulentum - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 221

<< First< Prev

Page of 3

The following term was not found in ClinVar: puberulentum.
Showing results for Abutilon puberulentum. Your search for Abutilon puberulentum retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1172524	NM_000168.6(GLI3):c.1610T>G (p.Met537Arg)	GLI3 (M537R)	Single nucleotide variant (missense variant)	Hand polydactyly	GLikely pathogenic
Select item 1335727	NM_007126.5(VCP):c.1460G>A (p.Arg487His)	VCP (R442H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1177302	NM_001009944.3(PKD1):c.6499A>G (p.Asn2167Asp)	PKD1 (N2167D)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 224065	NM_000243.3(MEFV):c.*267G>A	MEFV	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 224064	NM_000243.3(MEFV):c.*245G>A	MEFV	Single nucleotide variant (3 prime UTR variant)	Acute febrile neutrophilic dermatosis +3 more	GBenign/Likely benign
Select item 224066	NM_000243.3(MEFV):c.*133G>A	MEFV	Single nucleotide variant (3 prime UTR variant)	Acute febrile neutrophilic dermatosis +3 more	GBenign/Likely benign
Select item 97511	NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)	MEFV (P780T)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +5 more	GConflicting classifications of pathogenicity
Select item 97510	NM_000243.3(MEFV):c.2337G>C (p.Gly779=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 97509	NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)	MEFV (I772V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1018295	NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs)	MEFV (T771fs)	Deletion (frameshift variant +1 more)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 1325704	NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)	MEFV (G763R)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 2549	NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	MEFV (R761H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 495753	NM_000243.3(MEFV):c.2271C>T (p.Ser757=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Acute febrile neutrophilic dermatosis +5 more	GConflicting classifications of pathogenicity
Select item 97507	NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)	MEFV (I755V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 97505	NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)	MEFV (S749C)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2548	NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	MEFV	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 97503	NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)	MEFV (F743L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2540	NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	MEFV (V726A)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +5 more	GPathogenic/Likely pathogenic
Select item 97501	NM_000243.3(MEFV):c.2169C>T (p.Asp723=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 97500	NM_000243.3(MEFV):c.2164G>A (p.Val722Met)	LOC126862264, MEFV (V722M)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 458000	NM_000243.3(MEFV):c.2163C>T (p.Phe721=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Acute febrile neutrophilic dermatosis +5 more	GConflicting classifications of pathogenicity
Select item 97499	NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)	LOC126862264, MEFV (I720M)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 803178	NM_000243.3(MEFV):c.2150G>A (p.Arg717His)	LOC126862264, MEFV (R717H)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 803177	NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu)	LOC126862264, MEFV (R717L)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 234366	NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu)	LOC126862264, MEFV (K716E)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 234551	NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu)	LOC126862264, MEFV (P714L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 649340	NM_000243.3(MEFV):c.2123G>A (p.Arg708His)	LOC126862264, MEFV (R708H)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 97496	NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)	LOC126862264, MEFV (R708C)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 970490	NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu)	LOC126862264, MEFV (P706L)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 845727	NM_000243.3(MEFV):c.2111T>G (p.Val704Gly)	LOC126862264, MEFV (V704G)	Single nucleotide variant (3 prime UTR variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 97494	NM_000243.3(MEFV):c.2110G>A (p.Val704Ile)	LOC126862264, MEFV (V704I)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 97493	NM_000243.3(MEFV):c.2109C>T (p.Ser703=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 97491	NM_000243.3(MEFV):c.2103G>A (p.Ala701=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 2547	NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	LOC126862264, MEFV (K695R)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 2555	NM_000243.2(MEFV):c.[442G>C;2082G>A]	LOC126862264, MEFV	Single nucleotide variant (missense variant +2 more)	Familial Mediterranean fever, autosomal dominant	GPathogenic
Select item 2538	NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	not provided +24 more	GPathogenic/Likely pathogenic
Select item 1478684	NM_000243.3(MEFV):c.2078T>C (p.Met693Thr)	LOC126862264, MEFV (M693T)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 888112	NM_000243.3(MEFV):c.2068G>C (p.Val690Leu)	LOC126862264, MEFV (V690L)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 859245	NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg)	LOC126862264, MEFV (W689R)	Single nucleotide variant (3 prime UTR variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 577934	NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs)	LOC126862264, MEFV (L682fs)	Microsatellite (frameshift variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 36507	NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +6 more	GPathogenic
Select item 97479	NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu)	LOC126862264, MEFV (G678E)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 97478	NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn)	LOC126862264, MEFV (S675N)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 811766	NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe)	LOC126862264, MEFV (I666F)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 1062670	NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser)	LOC126862264, MEFV (R653S)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 289866	NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys)	LOC126862264, MEFV (R653C)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 793936	NM_000243.3(MEFV):c.1899G>A (p.Pro633=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 457998	NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)	LOC126862264, MEFV (P633L)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 803181	NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala)	LOC126862264, MEFV (G632A)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 97467	NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)	LOC126862264, MEFV (G632S)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 803182	NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu)	LOC126862264, MEFV (P630L)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 234364	NM_000243.3(MEFV):c.1886dup (p.Pro630fs)	LOC126862264, MEFV (P630fs)	Duplication (frameshift variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 97466	NM_000243.3(MEFV):c.1827C>G (p.Pro609=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 97464	NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)	LOC126862264, MEFV (N599D)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 527802	NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter)	LOC126862264, MEFV (Q594* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 803185	NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)	LOC126862264, MEFV (W439G +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 36506	NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +6 more	GConflicting classifications of pathogenicity
Select item 669769	NM_000243.3(MEFV):c.1770G>A (p.Leu590=)	LOC126862264, MEFV (D438N)	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 993671	NM_000243.3(MEFV):c.1760-97G>A	LOC126862264, MEFV (G402E)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GBenign/Likely benign
Select item 992257	NM_000243.3(MEFV):c.1759+12G>A	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 439888	NM_000243.3(MEFV):c.1759+11C>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 36504	NM_000243.3(MEFV):c.1759+8C>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever, autosomal dominant +5 more	GBenign/Likely benign
Select item 884985	NM_000243.3(MEFV):c.1758T>C (p.Asn586=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 97456	NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)	LOC126862264, MEFV (M582L +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 319109	NM_000243.3(MEFV):c.1736G>A (p.Arg579His)	LOC126862264, MEFV (R579H +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +3 more	GUncertain significance
Select item 641743	NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys)	LOC126862264, MEFV (R579C +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 1467370	NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg)	LOC126862264, MEFV (Q351R +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 864685	NM_000243.3(MEFV):c.1681C>T (p.His561Tyr)	LOC126862264, MEFV (H561Y +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 1139651	NM_000243.3(MEFV):c.1677C>T (p.Leu559=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 633304	NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)	MEFV (T548N +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +5 more	GConflicting classifications of pathogenicity
Select item 495752	NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)	MEFV (V541A +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 439886	NM_000243.3(MEFV):c.1610+8G>A	MEFV	Single nucleotide variant (intron variant)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 1179055	NM_000243.3(MEFV):c.1597_1598dup (p.Asp533fs)	MEFV (D322fs +1 more)	Microsatellite (frameshift variant)	Familial Mediterranean fever +2 more	GLikely pathogenic
Select item 445588	NM_000243.3(MEFV):c.1587+18C>T	MEFV	Single nucleotide variant (intron variant)	Acute febrile neutrophilic dermatosis +3 more	GBenign/Likely benign
Select item 97450	NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)	MEFV (I513T +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 1122743	NM_000243.3(MEFV):c.1533G>A (p.Ala511=)	MEFV	Single nucleotide variant (synonymous variant)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 646921	NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)	MEFV (A511V +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 955767	NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)	MEFV (D299N +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 860331	NM_000243.3(MEFV):c.1522C>G (p.Leu508Val)	MEFV (L508V +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 319112	NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr)	MEFV (D505Y +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 1179060	NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter)	MEFV (Q293* +1 more)	Single nucleotide variant (nonsense)	Familial Mediterranean fever +2 more	GPathogenic
Select item 457996	NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)	MEFV (S503C +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 527800	NM_000243.3(MEFV):c.1504G>A (p.Val502Ile)	MEFV (V502I +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 36501	NM_000243.3(MEFV):c.1503C>T (p.Arg501=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever, autosomal dominant +6 more	GConflicting classifications of pathogenicity
Select item 918136	NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)	MEFV (R290C +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 97447	NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)	MEFV (R501G +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 1637905	NM_000243.3(MEFV):c.1485G>A (p.Arg495=)	MEFV	Single nucleotide variant (synonymous variant)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 97445	NM_000243.3(MEFV):c.1459G>A (p.Val487Met)	MEFV (V487M +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 2557	NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)	MEFV (H478Y +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 319113	NM_000243.3(MEFV):c.1406T>C (p.Val469Ala)	MEFV (V469A +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 97442	NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)	MEFV (V469L +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 1157571	NM_000243.3(MEFV):c.1401G>A (p.Glu467=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 97441	NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)	MEFV (A457V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 632890	NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)	MEFV (E456D +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 439884	NM_000243.3(MEFV):c.1356+31G>T	MEFV	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 964707	NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)	MEFV (F240C +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 761100	NM_000243.3(MEFV):c.1344A>C (p.Ala448=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 279849	NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)	MEFV (K447N +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 234502	NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala)	MEFV (E446A +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 945593	NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr)	MEFV (S231T +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3