4210[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	OR1F1, OR2C1 +916 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC130058195, LOC130058196 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	RMI2, RNF151 +842 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058340, LOC130058341 +925 more	Copy number gain	See cases	GPathogenic
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	AMDHD2, ATP6V0C +148 more	Copy number loss	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 151030	GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3	C16orf90, CLUAP1 +101 more	Copy number gain	See cases	GUncertain significance
Select item 885766	NM_000243.3(MEFV):c.*1096A>T	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 319085	NM_000243.3(MEFV):c.*1080A>G	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 319086	NM_000243.3(MEFV):c.*1056G>T	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GBenign
Select item 319087	NM_000243.3(MEFV):c.*1029G>C	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 886768	NM_000243.3(MEFV):c.*1008A>G	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 886769	NM_000243.3(MEFV):c.*1002G>C	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 886770	NM_000243.3(MEFV):c.*981A>G	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 886771	NM_000243.3(MEFV):c.*959T>C	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 886772	NM_000243.3(MEFV):c.*862A>C	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 886773	NM_000243.3(MEFV):c.*845C>T	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 319088	NM_000243.3(MEFV):c.836_837insACT	MEFV	Insertion (3 prime UTR variant)	Familial Mediterranean fever	GLikely benign
Select item 319089	NM_000243.3(MEFV):c.*818A>C	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 888047	NM_000243.3(MEFV):c.*797T>C	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 319090	NM_000243.3(MEFV):c.*779del	MEFV	Deletion (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 888048	NM_000243.3(MEFV):c.*761C>G	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 319091	NM_000243.3(MEFV):c.*761del	MEFV	Deletion (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 319092	NM_000243.3(MEFV):c.*743T>C	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GBenign
Select item 319093	NM_000243.3(MEFV):c.*724G>A	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 888049	NM_000243.3(MEFV):c.*721T>A	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 319094	NM_000243.3(MEFV):c.*701G>A	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 888050	NM_000243.3(MEFV):c.*695C>G	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 884919	NM_000243.3(MEFV):c.*690G>T	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 319095	NM_000243.3(MEFV):c.*679C>G	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 319096	NM_000243.3(MEFV):c.*639G>A	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 884920	NM_000243.3(MEFV):c.*579C>A	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 319097	NM_000243.3(MEFV):c.*543C>T	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 319098	NM_000243.3(MEFV):c.*475A>G	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GBenign
Select item 319099	NM_000243.3(MEFV):c.*474C>G	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GBenign
Select item 319100	NM_000243.3(MEFV):c.467_469del	MEFV	Deletion (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 319101	NM_000243.3(MEFV):c.466_468del	MEFV	Deletion (3 prime UTR variant)	Familial Mediterranean fever	GLikely benign
Select item 319102	NM_000243.3(MEFV):c.*403A>C	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 885840	NM_000243.3(MEFV):c.*394C>T	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 319103	NM_000243.3(MEFV):c.*292C>G	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 319104	NM_000243.3(MEFV):c.*280G>C	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	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 885841	NM_000243.3(MEFV):c.*190G>C	MEFV	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 319105	NM_000243.3(MEFV):c.*169C>T	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
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 319106	NM_000243.3(MEFV):c.*74C>T	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever +1 more	GConflicting classifications of pathogenicity
Select item 97426	NM_000243.3(MEFV):c.*21C>G	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	Gnot provided
Select item 319107	NM_000243.3(MEFV):c.*19C>T	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	GUncertain significance
Select item 97425	NM_000243.3(MEFV):c.*12T>C	MEFV	Single nucleotide variant (3 prime UTR variant)	Familial Mediterranean fever	Gnot provided
Select item 1694330	NM_000243.3(MEFV):c.*9C>G	MEFV	Single nucleotide variant (3 prime UTR variant)	Autoinflammatory syndrome	GUncertain significance
Select item 445530	NM_000243.3(MEFV):c.*9C>T	MEFV	Single nucleotide variant (3 prime UTR variant)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 97511	NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)	MEFV (P780T)	Single nucleotide variant (missense variant +1 more)	not specified +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)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 841823	NM_000243.3(MEFV):c.2336G>T (p.Gly779Val)	MEFV (G779V)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 1209627	NM_000243.3(MEFV):c.2333A>G (p.Gln778Arg)	MEFV (Q778R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 1683233	NM_000243.3(MEFV):c.2332C>T (p.Gln778Ter)	MEFV (Q778*)	Single nucleotide variant (nonsense +1 more)	not specified +1 more	GUncertain significance
Select item 803175	NM_000243.3(MEFV):c.2330dup (p.Gln778fs)	MEFV (Q778fs)	Duplication (frameshift variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 458001	NM_000243.3(MEFV):c.2330_2331del (p.Gly777fs)	MEFV (G777fs)	Deletion (3 prime UTR variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 1952434	NM_000243.3(MEFV):c.2329G>C (p.Gly777Arg)	MEFV (G777R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 646446	NM_000243.3(MEFV):c.2327G>C (p.Gly776Ala)	MEFV (G776A)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 1694335	NM_000243.3(MEFV):c.2318G>A (p.Cys773Tyr)	MEFV (C773Y)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 97509	NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)	MEFV (I772V)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 2746700	NM_000243.3(MEFV):c.2313T>A (p.Thr771=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
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 2764598	NM_000243.3(MEFV):c.2310G>T (p.Leu770=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 753928	NM_000243.3(MEFV):c.2310G>A (p.Leu770=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 56149	NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala)	MEFV (P769A)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 1321574	NM_000243.3(MEFV):c.2303C>G (p.Ala768Gly)	MEFV (A768G)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +1 more	GUncertain significance
Select item 3007710	NM_000243.3(MEFV):c.2301A>G (p.Thr767=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1285085	NM_000243.3(MEFV):c.2296A>C (p.Asn766His)	MEFV (N766H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1156764	NM_000243.3(MEFV):c.2292G>A (p.Gly764=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 378133	NM_000243.3(MEFV):c.2292G>T (p.Gly764=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 2183615	NM_000243.3(MEFV):c.2291G>C (p.Gly764Ala)	MEFV (G764A)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
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 2883357	NM_000243.3(MEFV):c.2283T>C (p.Arg761=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2549	NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	MEFV (R761H)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +5 more	GPathogenic/Likely pathogenic
Select item 803176	NM_000243.3(MEFV):c.2281C>A (p.Arg761Ser)	MEFV (R761S)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 1446881	NM_000243.3(MEFV):c.2279C>T (p.Thr760Ile)	MEFV (T760I)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 97508	NM_000243.3(MEFV):c.2272C>T (p.Pro758Ser)	MEFV (P758S)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	Gnot provided
Select item 495753	NM_000243.3(MEFV):c.2271C>T (p.Ser757=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever, autosomal dominant +5 more	GConflicting classifications of pathogenicity
Select item 2886866	NM_000243.3(MEFV):c.2268C>T (p.Phe756=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1980766	NM_000243.3(MEFV):c.2266_2267insGAAT (p.Phe756Ter)	MEFV (F756*)	Insertion (nonsense +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 1097551	NM_000243.3(MEFV):c.2265C>T (p.Ile755=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 97507	NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)	MEFV (I755V)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 97506	NM_000243.3(MEFV):c.2259A>G (p.Gln753=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 632888	NM_000243.3(MEFV):c.2253C>G (p.Pro751=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2896181	NM_000243.3(MEFV):c.2250G>A (p.Gly750=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 886836	NM_000243.3(MEFV):c.2246C>A (p.Ser749Tyr)	MEFV (S749Y)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 97505	NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)	MEFV (S749C)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 1373476	NM_000243.3(MEFV):c.2236T>G (p.Cys746Gly)	MEFV (C746G)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 1320936	NM_000243.3(MEFV):c.2236T>C (p.Cys746Arg)	MEFV (C746R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1694334	NM_000243.3(MEFV):c.2230G>A (p.Ala744Thr)	MEFV (A744T)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 999011	NM_000243.3(MEFV):c.2230G>C (p.Ala744Pro)	MEFV (A744P)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 2548	NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	MEFV	Single nucleotide variant (missense variant +1 more)	MEFV-related condition +7 more	GConflicting classifications of pathogenicity
Select item 97504	NM_000243.3(MEFV):c.2229C>T (p.Phe743=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 97503	NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)	MEFV (F743L)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 97502	NM_000243.3(MEFV):c.2228T>A (p.Phe743Tyr)	MEFV (F743Y)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	Gnot provided

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