"GeneDx"[submitter] AND "LOC126862264"[gene] - ClinVar

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Items: 44

	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 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 458000	NM_000243.3(MEFV):c.2163C>T (p.Phe721=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +5 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)	Familial Mediterranean fever +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 1321008	NM_000243.3(MEFV):c.2140C>T (p.Pro714Ser)	LOC126862264, MEFV (P714S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 36508	NM_000243.3(MEFV):c.2118G>A (p.Pro706=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +5 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)	Acute febrile neutrophilic dermatosis +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)	Acute febrile neutrophilic dermatosis +4 more	GBenign/Likely benign
Select item 1315595	NM_000243.3(MEFV):c.2090A>T (p.Asn697Ile)	LOC126862264, MEFV (N697I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 449657	NM_000243.3(MEFV):c.2080_2082delinsGTA (p.Met694Val)	LOC126862264, MEFV (M694V)	Indel (missense variant +1 more)	not provided	GPathogenic
Select item 2539	NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2538	NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +24 more	GPathogenic/Likely pathogenic
Select item 97485	NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)	LOC126862264, MEFV (I692del)	Deletion	not provided +3 more	GConflicting classifications of pathogenicity
Select item 56148	NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp)	LOC126862264, MEFV (G687D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 97482	NM_000243.3(MEFV):c.2049G>A (p.Ser683=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1406503	NM_000243.3(MEFV):c.2045dup (p.Ser683fs)	LOC126862264, MEFV (S683fs)	Duplication (frameshift variant +1 more)	Familial Mediterranean fever +1 more	GUncertain significance
Select item 234365	NM_000243.3(MEFV):c.2040G>T (p.Met680Ile)	LOC126862264, MEFV (M680I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 36507	NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +6 more	GPathogenic
Select item 2550	NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GPathogenic
Select item 97479	NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu)	LOC126862264, MEFV (G678E)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 1277708	NM_000243.3(MEFV):c.2007C>T (p.Ala669=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2553	NM_000243.3(MEFV):c.1958G>A (p.Arg653His)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	not provided +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 provided +4 more	GConflicting classifications of pathogenicity
Select item 372960	NM_000243.3(MEFV):c.1873A>C (p.Lys625Gln)	LOC126862264, MEFV (K625Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 97466	NM_000243.3(MEFV):c.1827C>G (p.Pro609=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	not specified +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)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 245713	NM_000243.3(MEFV):c.1793-16C>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 493169	NM_000243.3(MEFV):c.1779T>A (p.Ala593=)	LOC126862264, MEFV (S441T)	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +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)	not specified +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 246350	NM_000243.3(MEFV):c.1767G>A (p.Glu589=)	LOC126862264, MEFV (A437T)	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 138206	NM_000243.3(MEFV):c.1764= (p.Pro588=)	LOC126862264, MEFV	Single nucleotide variant (no sequence alteration)	not specified +2 more	GBenign
Select item 97458	NM_000243.3(MEFV):c.1760-4G>A	LOC126862264, MEFV (R433H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 439880	NM_000243.3(MEFV):c.1760-30T>A	LOC126862264, MEFV (D424E)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +3 more	GBenign
Select item 993671	NM_000243.3(MEFV):c.1760-97G>A	LOC126862264, MEFV (G402E)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +3 more	GBenign/Likely benign
Select item 1283517	NM_000243.3(MEFV):c.1759+99del	LOC126862264, MEFV	Deletion (intron variant)	not provided +1 more	GBenign
Select item 510713	NM_000243.3(MEFV):c.1759+18G>A	LOC126862264, MEFV	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 36504	NM_000243.3(MEFV):c.1759+8C>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Acute febrile neutrophilic dermatosis +5 more	GBenign/Likely benign
Select item 234363	NM_000243.3(MEFV):c.1759+1G>A	LOC126862264, MEFV	Single nucleotide variant (splice donor variant)	not provided	GConflicting classifications of pathogenicity
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 682518	NM_000243.3(MEFV):c.1727-16C>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever +1 more	GLikely benign
Select item 1189296	NM_000243.3(MEFV):c.1727-61A>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 44