C2752001[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 886777	NM_001080432.2(FTO):c.-210A>T	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319674	NM_001080432.2(FTO):c.-186C>G	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886778	NM_001080432.2(FTO):c.-168C>G	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886779	NM_001080432.2(FTO):c.-140T>C	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GLikely benign
Select item 319675	NM_001080432.2(FTO):c.-137G>C	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886780	NM_001080432.2(FTO):c.-122C>G	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886781	NM_001080432.2(FTO):c.-43G>A	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886782	NM_001080432.3(FTO):c.-6G>A	FTO	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319676	NM_001080432.3(FTO):c.-4del	FTO	Deletion (5 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319677	NM_001080432.3(FTO):c.18T>C (p.Thr6=)	FTO, RPGRIP1L	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis +4 more	GBenign/Likely benign
Select item 319678	NM_001080432.3(FTO):c.45+8G>T	FTO	Single nucleotide variant (intron variant)	Lethal polymalformative syndrome, Boissel type +1 more	GConflicting classifications of pathogenicity
Select item 319679	NM_001080432.3(FTO):c.99C>T (p.Pro33=)	FTO	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GBenign/Likely benign
Select item 888055	NM_001080432.3(FTO):c.142A>C (p.Lys48Gln)	FTO (K48Q +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319680	NM_001080432.3(FTO):c.174T>C (p.Ser58=)	FTO	Single nucleotide variant (synonymous variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 888056	NM_001080432.3(FTO):c.278C>G (p.Pro93Arg)	FTO (P67R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 319681	NM_001080432.3(FTO):c.400G>A (p.Ala134Thr)	FTO (A134T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 888057	NM_001080432.3(FTO):c.428A>G (p.Asn143Ser)	FTO (N143S +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal polymalformative syndrome, Boissel type +1 more	GUncertain significance
Select item 884923	NM_001080432.3(FTO):c.430G>A (p.Asp144Asn)	FTO (D144N +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal polymalformative syndrome, Boissel type +1 more	GLikely benign
Select item 319682	NM_001080432.3(FTO):c.487G>A (p.Ala163Thr)	FTO (A163T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 445384	NM_001080432.3(FTO):c.545G>C (p.Gly182Ala)	FTO (G182A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 884924	NM_001080432.3(FTO):c.601G>A (p.Val201Ile)	FTO (V201I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 884925	NM_001080432.3(FTO):c.721G>A (p.Ala241Thr)	FTO (A70T +2 more)	Single nucleotide variant (missense variant)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319683	NM_001080432.3(FTO):c.751+3A>G	FTO (T252A)	Single nucleotide variant (missense variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 714629	NM_001080432.3(FTO):c.767G>A (p.Ser256Asn)	FTO (S230N +3 more)	Single nucleotide variant (missense variant +2 more)	Lethal polymalformative syndrome, Boissel type +2 more	GConflicting classifications of pathogenicity
Select item 319684	NM_001080432.3(FTO):c.783T>A (p.His261Gln)	FTO (H261Q +3 more)	Single nucleotide variant (missense variant +2 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 885846	NM_001080432.3(FTO):c.857C>T (p.Ala286Val)	FTO (A260V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 631751	NM_001080432.3(FTO):c.955del (p.Ser319fs)	FTO (S148fs +5 more)	Deletion (frameshift variant)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319685	NM_001080432.3(FTO):c.959C>T (p.Thr320Ile)	FTO (T320I +5 more)	Single nucleotide variant (missense variant)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 773057	NM_001080432.3(FTO):c.1002T>C (p.Ile334=)	FTO	Single nucleotide variant (synonymous variant +1 more)	Lethal polymalformative syndrome, Boissel type +1 more	GBenign
Select item 885847	NM_001080432.3(FTO):c.1073C>T (p.Ser358Phe)	FTO (S187F +5 more)	Single nucleotide variant (missense variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319686	NM_001080432.3(FTO):c.1119+12_1119+15del	FTO	Microsatellite (intron variant)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319687	NM_001080432.3(FTO):c.1119+25dup	FTO	Duplication (intron variant)	Lethal polymalformative syndrome, Boissel type +1 more	GConflicting classifications of pathogenicity
Select item 319688	NM_001080432.3(FTO):c.1179T>G (p.Thr393=)	FTO	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885848	NM_001080432.3(FTO):c.1198A>G (p.Met400Val)	FTO (M229V +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 784339	NM_001080432.3(FTO):c.1214C>T (p.Ala405Val)	FTO (A234V +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 319689	NM_001080432.3(FTO):c.1240-4G>A	FTO	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886840	NM_001080432.3(FTO):c.1282G>A (p.Val428Met)	FTO (V380M +6 more)	Single nucleotide variant (missense variant +2 more)	Lethal polymalformative syndrome, Boissel type +1 more	GUncertain significance
Select item 886841	NM_001080432.3(FTO):c.1295A>G (p.Asn432Ser)	FTO (N453S +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 319690	NM_001080432.3(FTO):c.1306A>C (p.Thr436Pro)	FTO (T436P +6 more)	Single nucleotide variant (missense variant +2 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 632257	NM_001080432.3(FTO):c.1384C>T (p.Arg462Ter)	FTO (R462* +8 more)	Single nucleotide variant (nonsense +3 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886842	NM_001080432.3(FTO):c.1477G>T (p.Val493Phe)	FTO (V487F +7 more)	Single nucleotide variant (missense variant +2 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319691	NM_001080432.3(FTO):c.*39G>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GLikely benign
Select item 319692	NM_001080432.3(FTO):c.*88C>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886843	NM_001080432.3(FTO):c.*101C>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319693	NM_001080432.3(FTO):c.*116C>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GBenign
Select item 888117	NM_001080432.3(FTO):c.*125A>G	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 888118	NM_001080432.3(FTO):c.*195A>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 888119	NM_001080432.3(FTO):c.*281G>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319694	NM_001080432.3(FTO):c.*298C>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319695	NM_001080432.3(FTO):c.*301G>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319696	NM_001080432.3(FTO):c.*322T>C	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319697	NM_001080432.3(FTO):c.*361C>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 888120	NM_001080432.3(FTO):c.*394A>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319698	NM_001080432.3(FTO):c.*509G>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 884990	NM_001080432.3(FTO):c.*568C>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 884991	NM_001080432.3(FTO):c.*597G>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319699	NM_001080432.3(FTO):c.*619A>C	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GBenign
Select item 319700	NM_001080432.3(FTO):c.*658A>G	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319701	NM_001080432.3(FTO):c.*721T>G	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GBenign
Select item 884992	NM_001080432.3(FTO):c.*789C>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 884993	NM_001080432.3(FTO):c.*888G>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GLikely benign
Select item 319702	NM_001080432.3(FTO):c.*931C>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GBenign
Select item 319703	NM_001080432.3(FTO):c.*1057G>C	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319704	NM_001080432.3(FTO):c.*1061C>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319705	NM_001080432.3(FTO):c.*1071G>C	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GBenign
Select item 319706	NM_001080432.3(FTO):c.*1082G>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GBenign
Select item 885902	NM_001080432.3(FTO):c.*1170A>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319707	NM_001080432.3(FTO):c.*1195T>C	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 885903	NM_001080432.3(FTO):c.*1215G>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GLikely benign
Select item 886904	NM_001080432.3(FTO):c.*1280C>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886905	NM_001080432.3(FTO):c.*1281G>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GLikely benign
Select item 319708	NM_001080432.3(FTO):c.*1315C>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GBenign
Select item 319709	NM_001080432.3(FTO):c.*1331G>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GBenign
Select item 319710	NM_001080432.3(FTO):c.*1379del	FTO	Deletion (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GLikely benign
Select item 886907	NM_001080432.3(FTO):c.*1378C>G	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886906	NM_001080432.3(FTO):c.*1378C>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886908	NM_001080432.3(FTO):c.*1379C>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 886909	NM_001080432.3(FTO):c.*1380G>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GBenign
Select item 319711	NM_001080432.3(FTO):c.*1380del	FTO	Deletion (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GBenign
Select item 319712	NM_001080432.3(FTO):c.*1403C>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GBenign
Select item 319713	NM_001080432.3(FTO):c.*1550C>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319714	NM_001080432.3(FTO):c.*1592G>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319715	NM_001080432.3(FTO):c.*1704T>C	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319716	NM_001080432.3(FTO):c.*1724A>G	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GLikely benign
Select item 319717	NM_001080432.3(FTO):c.*1745G>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319718	NM_001080432.3(FTO):c.*1767del	FTO	Deletion (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319719	NM_001080432.3(FTO):c.*1829G>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319720	NM_001080432.3(FTO):c.*1860A>C	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GBenign
Select item 319722	NM_001080432.3(FTO):c.*1911dup	FTO	Duplication (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319721	NM_001080432.3(FTO):c.*1896del	FTO	Deletion (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319723	NM_001080432.3(FTO):c.*1911del	FTO	Deletion (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GBenign
Select item 319724	NM_001080432.3(FTO):c.*1944G>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 885052	NM_001080432.3(FTO):c.*2002C>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319725	NM_001080432.3(FTO):c.*2039C>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 885053	NM_001080432.3(FTO):c.*2058A>G	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319726	NM_001080432.3(FTO):c.*2080A>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319727	NM_001080432.3(FTO):c.*2108G>A	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GBenign
Select item 319728	NM_001080432.3(FTO):c.*2180C>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GBenign
Select item 885974	NM_001080432.3(FTO):c.*2190A>G	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance
Select item 319729	NM_001080432.3(FTO):c.*2192G>T	FTO	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal polymalformative syndrome, Boissel type	GUncertain significance

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