C0796113[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334921	NM_152383.4(DIS3L2):c.-250C>G	DIS3L2, LOC129935854	Single nucleotide variant	Perlman syndrome	GUncertain significance
Select item 334922	NM_152383.4(DIS3L2):c.-229C>T	DIS3L2, LOC129935854	Single nucleotide variant	Perlman syndrome	GUncertain significance
Select item 898491	NM_152383.5(DIS3L2):c.-143C>G	DIS3L2	Single nucleotide variant (5 prime UTR variant +1 more)	Perlman syndrome	GUncertain significance
Select item 334923	NM_152383.5(DIS3L2):c.-142T>A	DIS3L2	Single nucleotide variant (5 prime UTR variant +1 more)	Perlman syndrome	GUncertain significance
Select item 334924	NM_152383.5(DIS3L2):c.-102G>A	DIS3L2	Single nucleotide variant (5 prime UTR variant +1 more)	Perlman syndrome	GUncertain significance
Select item 895499	NM_152383.5(DIS3L2):c.-95C>T	DIS3L2	Single nucleotide variant (5 prime UTR variant +1 more)	Perlman syndrome	GUncertain significance
Select item 895500	NM_152383.5(DIS3L2):c.-78C>T	DIS3L2	Single nucleotide variant (5 prime UTR variant +1 more)	Perlman syndrome	GLikely benign
Select item 334925	NM_152383.5(DIS3L2):c.-67G>A	DIS3L2	Single nucleotide variant (5 prime UTR variant +1 more)	Perlman syndrome	GUncertain significance
Select item 334926	NM_152383.5(DIS3L2):c.-58_-54del	DIS3L2	Deletion (5 prime UTR variant +1 more)	Perlman syndrome	GUncertain significance
Select item 334927	NM_152383.5(DIS3L2):c.-52A>G	DIS3L2	Single nucleotide variant (5 prime UTR variant +1 more)	Perlman syndrome	GUncertain significance
Select item 334928	NM_152383.5(DIS3L2):c.34C>T (p.Pro12Ser)	DIS3L2 (P12S)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome +1 more	GBenign
Select item 895501	NM_152383.5(DIS3L2):c.47C>A (p.Pro16His)	DIS3L2 (P16H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 416341	NM_152383.5(DIS3L2):c.108G>A (p.Lys36=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 416346	NM_152383.5(DIS3L2):c.210+10A>G	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GConflicting classifications of pathogenicity
Select item 896902	NM_152383.5(DIS3L2):c.221G>A (p.Arg74Lys)	DIS3L2 (R74K)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 334929	NM_152383.5(DIS3L2):c.263C>T (p.Pro88Leu)	DIS3L2 (P88L)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome +2 more	GConflicting classifications of pathogenicity
Select item 334930	NM_152383.5(DIS3L2):c.265-15C>A	DIS3L2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 410747	NM_152383.5(DIS3L2):c.305G>C (p.Arg102Pro)	DIS3L2 (R102P)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 241980	NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys)	DIS3L2 (Y137C)	Single nucleotide variant (missense variant +1 more)	DIS3L2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 241982	NM_152383.5(DIS3L2):c.426C>T (p.Pro142=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 416364	NM_152383.5(DIS3L2):c.453G>A (p.Pro151=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	DIS3L2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 262632	NM_152383.5(DIS3L2):c.456A>G (p.Gln152=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 334931	NM_152383.5(DIS3L2):c.519C>T (p.Ser173=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 569167	NM_152383.5(DIS3L2):c.566G>C (p.Gly189Ala)	DIS3L2 (G189A)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 897406	NM_152383.5(DIS3L2):c.613G>A (p.Gly205Ser)	DIS3L2 (G205S)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 334932	NM_152383.5(DIS3L2):c.674C>T (p.Ser225Leu)	DIS3L2 (S225L)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 241983	NM_152383.5(DIS3L2):c.702+10T>G	DIS3L2 (Y238D)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 334933	NM_152383.5(DIS3L2):c.712A>G (p.Ile238Val)	DIS3L2 (I238V)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 241986	NM_152383.5(DIS3L2):c.795C>T (p.Tyr265=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	DIS3L2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 664523	NM_152383.5(DIS3L2):c.821G>A (p.Arg274Gln)	DIS3L2 (R274Q)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 334934	NM_152383.5(DIS3L2):c.951-8A>G	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GConflicting classifications of pathogenicity
Select item 410764	NM_152383.5(DIS3L2):c.1125-6T>G	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GConflicting classifications of pathogenicity
Select item 334935	NM_152383.5(DIS3L2):c.1158C>T (p.Thr386=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 334936	NM_152383.5(DIS3L2):c.1170C>T (p.Leu390=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome +1 more	GBenign
Select item 531937	NM_152383.5(DIS3L2):c.1188C>T (p.Cys396=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GUncertain significance
Select item 898570	NM_152383.5(DIS3L2):c.1205-13C>T	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GConflicting classifications of pathogenicity
Select item 898571	NM_152383.5(DIS3L2):c.1205-12G>A	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GConflicting classifications of pathogenicity
Select item 334937	NM_152383.5(DIS3L2):c.1317+15C>G	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GBenign/Likely benign
Select item 895574	NM_152383.5(DIS3L2):c.1337G>C (p.Arg446Thr)	DIS3L2 (R446T)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 334938	NM_152383.5(DIS3L2):c.1425+13A>G	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GConflicting classifications of pathogenicity
Select item 241961	NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly)	DIS3L2 (R483G)	Single nucleotide variant (missense variant +1 more)	DIS3L2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 262630	NM_152383.5(DIS3L2):c.1448G>A (p.Arg483Gln)	DIS3L2 (R483Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 241962	NM_152383.5(DIS3L2):c.1488T>C (p.His496=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 895575	NM_152383.5(DIS3L2):c.1534G>A (p.Glu512Lys)	DIS3L2 (E512K)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 640706	NM_152383.5(DIS3L2):c.1546A>T (p.Ile516Phe)	DIS3L2 (I516F)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 334939	NM_152383.5(DIS3L2):c.1599C>T (p.His533=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 896980	NM_152383.5(DIS3L2):c.1659+6T>A	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GUncertain significance
Select item 334940	NM_152383.5(DIS3L2):c.1680G>A (p.Leu560=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 896981	NM_152383.5(DIS3L2):c.1731G>C (p.Glu577Asp)	DIS3L2 (E577D)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 334941	NM_152383.5(DIS3L2):c.1809G>A (p.Glu603=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GConflicting classifications of pathogenicity
Select item 463078	NM_152383.5(DIS3L2):c.1825C>T (p.Arg609Trp)	DIS3L2 (R609W)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 896982	NM_152383.5(DIS3L2):c.1829A>G (p.His610Arg)	DIS3L2 (H610R)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 416355	NM_152383.5(DIS3L2):c.1836G>A (p.Pro612=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome	GConflicting classifications of pathogenicity
Select item 531986	NM_152383.5(DIS3L2):c.1839C>T (p.Pro613=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome	GConflicting classifications of pathogenicity
Select item 897466	NM_152383.5(DIS3L2):c.1856G>A (p.Ser619Asn)	DIS3L2 (S619N)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 334942	NM_152383.5(DIS3L2):c.1908C>T (p.Ser636=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome	GConflicting classifications of pathogenicity
Select item 841645	NM_152383.5(DIS3L2):c.1970G>A (p.Arg657His)	DIS3L2 (R657H)	Single nucleotide variant (non-coding transcript variant +2 more)	Perlman syndrome	GUncertain significance
Select item 569449	NM_152383.5(DIS3L2):c.2051C>T (p.Ala684Val)	DIS3L2 (A684V)	Single nucleotide variant (non-coding transcript variant +2 more)	Perlman syndrome	GUncertain significance
Select item 241969	NM_152383.5(DIS3L2):c.2060G>A (p.Arg687Gln)	DIS3L2 (R687Q)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 241970	NM_152383.5(DIS3L2):c.2067C>T (p.Tyr689=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334943	NM_152383.5(DIS3L2):c.2080C>T (p.Pro694Ser)	DIS3L2 (P694S)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 241971	NM_152383.5(DIS3L2):c.2124C>T (p.Asp708=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	DIS3L2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 334944	NM_152383.5(DIS3L2):c.2151C>T (p.Ala717=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 334945	NM_152383.5(DIS3L2):c.2187C>T (p.Pro729=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome +1 more	GBenign
Select item 334946	NM_152383.5(DIS3L2):c.2207C>T (p.Ala736Val)	DIS3L2 (A736V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 839975	NM_152383.5(DIS3L2):c.2271C>G (p.Phe757Leu)	DIS3L2 (F757L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 241974	NM_152383.5(DIS3L2):c.2329A>G (p.Ile777Val)	DIS3L2 (I777V)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GConflicting classifications of pathogenicity
Select item 241975	NM_152383.5(DIS3L2):c.2370C>T (p.Gly790=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 463106	NM_152383.5(DIS3L2):c.2394C>T (p.Asn798=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 334947	NM_152383.5(DIS3L2):c.2424G>A (p.Gln808=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 895634	NM_152383.5(DIS3L2):c.2497-14T>C	DIS3L2	Single nucleotide variant (non-coding transcript variant +1 more)	Perlman syndrome	GConflicting classifications of pathogenicity
Select item 861950	NM_152383.5(DIS3L2):c.2635C>G (p.Pro879Ala)	DIS3L2 (P879A)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 334948	NM_152383.5(DIS3L2):c.2637C>T (p.Pro879=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome	GConflicting classifications of pathogenicity
Select item 262631	NM_152383.5(DIS3L2):c.2646A>G (p.Ser882=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 895635	NM_152383.5(DIS3L2):c.*13G>T	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	Perlman syndrome	GUncertain significance
Select item 334949	NM_152383.5(DIS3L2):c.*13G>A	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	Perlman syndrome +1 more	GBenign/Likely benign
Select item 895636	NM_152383.5(DIS3L2):c.*18C>T	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	Perlman syndrome	GUncertain significance
Select item 334950	NM_152383.5(DIS3L2):c.*22dup	DIS3L2	Duplication (3 prime UTR variant +2 more)	Perlman syndrome	GUncertain significance
Select item 895637	NM_152383.5(DIS3L2):c.*44G>A	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	Perlman syndrome	GUncertain significance
Select item 897049	NM_152383.5(DIS3L2):c.*63C>T	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	Perlman syndrome	GUncertain significance
Select item 897050	NM_152383.5(DIS3L2):c.*72C>T	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	Perlman syndrome	GUncertain significance
Select item 897051	NM_152383.5(DIS3L2):c.*73G>A	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	Perlman syndrome	GUncertain significance
Select item 897052	NM_152383.5(DIS3L2):c.*77G>T	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 334951	NM_152383.5(DIS3L2):c.*86del	DIS3L2	Deletion (3 prime UTR variant +2 more)	Perlman syndrome	GLikely benign
Select item 334952	NM_152383.5(DIS3L2):c.*103A>G	DIS3L2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GBenign
Select item 334953	NM_152383.5(DIS3L2):c.*111G>A	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	Perlman syndrome	GUncertain significance
Select item 897053	NM_152383.5(DIS3L2):c.*113T>G	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 334954	NM_152383.5(DIS3L2):c.*127A>G	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	Perlman syndrome	GUncertain significance
Select item 334955	NM_152383.5(DIS3L2):c.*208G>A	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	Perlman syndrome	GUncertain significance
Select item 334956	NM_152383.5(DIS3L2):c.*251C>A	DIS3L2	Single nucleotide variant (non-coding transcript variant +2 more)	Perlman syndrome	GUncertain significance
Select item 334957	NM_152383.5(DIS3L2):c.*255C>T	DIS3L2	Single nucleotide variant (non-coding transcript variant +2 more)	Perlman syndrome	GBenign
Select item 334958	NM_152383.5(DIS3L2):c.*301dup	DIS3L2	Duplication (3 prime UTR variant +2 more)	Perlman syndrome	GUncertain significance
Select item 334959	NM_152383.5(DIS3L2):c.*301G>T	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	Perlman syndrome	GUncertain significance
Select item 897534	NM_152383.5(DIS3L2):c.*314A>T	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 897535	NM_152383.5(DIS3L2):c.*315G>C	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	Perlman syndrome	GBenign
Select item 334960	NM_152383.5(DIS3L2):c.*361del	DIS3L2	Deletion (3 prime UTR variant +2 more)	Perlman syndrome	GUncertain significance
Select item 897536	NM_152383.5(DIS3L2):c.*475G>C	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	Perlman syndrome	GUncertain significance
Select item 334961	NM_152383.5(DIS3L2):c.551_554dup	DIS3L2	Duplication (3 prime UTR variant +2 more)	Perlman syndrome	GUncertain significance
Select item 334962	NM_152383.5(DIS3L2):c.*558T>C	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	Perlman syndrome	GLikely benign

ClinVar

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Items: 99