C1864445[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130334	NM_018344.5(SLC29A3):c.-63C>T	LOC130004025, SLC29A3	Single nucleotide variant	not provided +1 more	GBenign
Select item 300355	NM_018344.6(SLC29A3):c.-31G>C	LOC130004025, SLC29A3	Single nucleotide variant (5 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 300356	NM_018344.6(SLC29A3):c.-23C>T	LOC130004025, SLC29A3	Single nucleotide variant (5 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 877161	NM_018344.6(SLC29A3):c.-7C>T	LOC130004025, SLC29A3	Single nucleotide variant (5 prime UTR variant +1 more)	H syndrome	GBenign
Select item 130342	NM_018344.6(SLC29A3):c.52A>G (p.Arg18Gly)	SLC29A3 (R18G)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 571603	NM_018344.6(SLC29A3):c.68G>A (p.Ser23Asn)	SLC29A3 (S23N)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 287285	NM_018344.6(SLC29A3):c.128T>G (p.Leu43Arg)	SLC29A3 (L43R)	Single nucleotide variant (missense variant +2 more)	H syndrome +3 more	GConflicting classifications of pathogenicity
Select item 878196	NM_018344.6(SLC29A3):c.138C>T (p.Pro46=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	SLC29A3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 878197	NM_018344.6(SLC29A3):c.219T>C (p.Thr73=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GUncertain significance
Select item 300357	NM_018344.6(SLC29A3):c.300+3A>G	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GBenign
Select item 130335	NM_018344.6(SLC29A3):c.304T>C (p.Tyr102His)	SLC29A3 (Y102H +1 more)	Single nucleotide variant (missense variant)	H syndrome	GBenign
Select item 287017	NM_018344.6(SLC29A3):c.325G>A (p.Val109Ile)	SLC29A3 (V109I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 571597	NM_018344.6(SLC29A3):c.337G>A (p.Val113Met)	SLC29A3 (V113M +1 more)	Single nucleotide variant (missense variant)	H syndrome	GUncertain significance
Select item 300358	NM_018344.6(SLC29A3):c.383+6C>T	SLC29A3	Single nucleotide variant (intron variant)	SLC29A3-related condition +1 more	GBenign
Select item 130340	NM_018344.6(SLC29A3):c.383+8A>G	SLC29A3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 300359	NM_018344.6(SLC29A3):c.385G>A (p.Val129Ile)	SLC29A3 (V129I +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 130341	NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe)	SLC29A3 (S158F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign; drug response
Select item 300360	NM_018344.6(SLC29A3):c.488G>T (p.Gly163Val)	SLC29A3 (G163V +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GBenign
Select item 300361	NM_018344.6(SLC29A3):c.498G>C (p.Ala166=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	H syndrome	GBenign
Select item 880015	NM_018344.6(SLC29A3):c.530G>A (p.Gly177Asp)	SLC29A3 (G177D +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 130336	NM_018344.6(SLC29A3):c.597G>A (p.Gln199=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 880016	NM_018344.6(SLC29A3):c.624C>T (p.Gly208=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	H syndrome	GConflicting classifications of pathogenicity
Select item 708082	NM_018344.6(SLC29A3):c.640G>A (p.Val214Met)	SLC29A3 (V136M +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GBenign/Likely benign
Select item 595592	NM_018344.6(SLC29A3):c.687C>T (p.Ser229=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 300362	NM_018344.6(SLC29A3):c.688G>A (p.Ala230Thr)	SLC29A3 (A230T +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 300363	NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)	SLC29A3 (V161I +1 more)	Inversion (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 130343	NM_018344.6(SLC29A3):c.714T>C (p.Thr238=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 130344	NM_018344.6(SLC29A3):c.715G>A (p.Val239Ile)	SLC29A3 (V239I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 300364	NM_018344.6(SLC29A3):c.797C>T (p.Ala266Val)	SLC29A3 (A266V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 750645	NM_018344.6(SLC29A3):c.804T>C (p.His268=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GConflicting classifications of pathogenicity
Select item 130345	NM_018344.6(SLC29A3):c.831C>T (p.Pro277=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GBenign
Select item 130346	NM_018344.6(SLC29A3):c.842T>C (p.Leu281Pro)	SLC29A3 (L281P +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GBenign
Select item 300365	NM_018344.6(SLC29A3):c.855G>A (p.Ser285=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GConflicting classifications of pathogenicity
Select item 300366	NM_018344.6(SLC29A3):c.920G>A (p.Ser307Asn)	SLC29A3 (S307N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 300367	NM_018344.6(SLC29A3):c.946T>G (p.Phe316Val)	SLC29A3 (F316V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome +1 more	GUncertain significance
Select item 130347	NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val)	SLC29A3 (I326V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 709157	NM_018344.6(SLC29A3):c.987C>T (p.Asn329=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 300368	NM_018344.6(SLC29A3):c.1001A>G (p.Asn334Ser)	SLC29A3 (N334S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	SLC29A3-related condition +1 more	GBenign/Likely benign
Select item 130337	NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign
Select item 878860	NM_018344.6(SLC29A3):c.1017A>G (p.Ser339=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 198230	NM_018344.6(SLC29A3):c.1146C>T (p.Phe382=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	SLC29A3-related condition +3 more	GBenign/Likely benign
Select item 300369	NM_018344.6(SLC29A3):c.1201C>T (p.Arg401Cys)	SLC29A3 (R401C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 300370	NM_018344.6(SLC29A3):c.1202G>A (p.Arg401His)	SLC29A3 (R401H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 563	NM_018344.6(SLC29A3):c.1279G>A (p.Gly427Ser)	SLC29A3 (G427S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GPathogenic
Select item 795626	NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome +1 more	GConflicting classifications of pathogenicity
Select item 300371	NM_018344.6(SLC29A3):c.*11A>C	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 300372	NM_018344.6(SLC29A3):c.*85G>A	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GLikely benign
Select item 300373	NM_018344.6(SLC29A3):c.*103G>T	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 880067	NM_018344.6(SLC29A3):c.*111A>G	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 300374	NM_018344.6(SLC29A3):c.*124C>T	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GBenign
Select item 300375	NM_018344.6(SLC29A3):c.*174G>A	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GBenign
Select item 880068	NM_018344.6(SLC29A3):c.*220A>G	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 300376	NM_018344.6(SLC29A3):c.*318C>T	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 880069	NM_018344.6(SLC29A3):c.*321C>G	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 300377	NM_018344.6(SLC29A3):c.*353C>A	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 880070	NM_018344.6(SLC29A3):c.*379A>G	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 880071	NM_018344.6(SLC29A3):c.*384C>T	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GLikely benign
Select item 300378	NM_018344.6(SLC29A3):c.*403C>T	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 300379	NM_018344.6(SLC29A3):c.*429C>T	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GBenign
Select item 300380	NM_018344.6(SLC29A3):c.*485G>A	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 300381	NM_018344.6(SLC29A3):c.*557A>C	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 300382	NM_018344.6(SLC29A3):c.*603A>G	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 300383	NM_018344.6(SLC29A3):c.*657dup	SLC29A3	Duplication (3 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 300384	NM_018344.6(SLC29A3):c.*705G>A	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GBenign
Select item 300385	NM_018344.6(SLC29A3):c.*711C>T	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GLikely benign
Select item 877281	NM_018344.6(SLC29A3):c.*744G>A	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 878318	NM_018344.6(SLC29A3):c.*755G>A	SLC29A3	Single nucleotide variant (3 prime UTR variant +1 more)	H syndrome	GLikely benign

ClinVar

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Items: 67