"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SLC29A3"[g - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 212200	NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter)	SLC29A3 (R25*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1082167	NM_018344.6(SLC29A3):c.120C>T (p.Pro40=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
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 661241	NM_018344.6(SLC29A3):c.269C>T (p.Thr90Ile)	SLC29A3 (T12I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 871054	NM_018344.6(SLC29A3):c.464T>C (p.Val155Ala)	SLC29A3 (V77A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 573984	NM_018344.6(SLC29A3):c.479G>A (p.Trp160Ter)	SLC29A3 (W160* +1 more)	Single nucleotide variant (nonsense +1 more)	H syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2640568	NM_018344.6(SLC29A3):c.613G>A (p.Gly205Arg)	SLC29A3 (G127R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 536253	NM_018344.6(SLC29A3):c.639C>T (p.Ala213=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely 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 806500	NM_018344.6(SLC29A3):c.708G>A (p.Thr236=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 711566	NM_018344.6(SLC29A3):c.774-6C>T	SLC29A3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 651684	NM_018344.6(SLC29A3):c.800C>A (p.Ala267Asp)	SLC29A3 (A189D +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1956727	NM_018344.6(SLC29A3):c.915G>A (p.Thr305=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome +1 more	GLikely benign
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 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 806501	NM_018344.6(SLC29A3):c.1006G>A (p.Gly336Ser)	SLC29A3 (G336S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 566	NM_018344.6(SLC29A3):c.1045del (p.Leu349fs)	SLC29A3 (L349fs +1 more)	Deletion (3 prime UTR variant +2 more)	not provided +1 more	GPathogenic
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 806502	NM_018344.6(SLC29A3):c.1373G>A (p.Cys458Tyr)	SLC29A3 (C380Y +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1160976	NM_018344.6(SLC29A3):c.1419C>T (p.His473=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome +1 more	GLikely benign

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Items: 20