ClinVar for Gene (Select 55315) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362452	NM_018344.6(SLC29A3):c.1402T>A (p.Ser468Thr)	SLC29A3 (S390T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 3355158	NM_018344.6(SLC29A3):c.383+1G>A	SLC29A3	Single nucleotide variant (splice donor variant)	SLC29A3-related disorder	GLikely pathogenic
Select item 3319420	NM_018344.6(SLC29A3):c.1179C>G (p.Phe393Leu)	SLC29A3 (F315L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3244862	NC_000010.10:g.(?_73103946)_(73104068_?)del	SLC29A3	Deletion	H syndrome	GPathogenic
Select item 3242084	NM_018344.6(SLC29A3):c.1090C>T (p.Gln364Ter)	SLC29A3 (Q286* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 3239367	NM_018344.6(SLC29A3):c.534C>G (p.Ala178=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3164069	NM_018344.6(SLC29A3):c.319C>A (p.Leu107Ile)	SLC29A3 (L107I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164068	NM_018344.6(SLC29A3):c.281C>G (p.Pro94Arg)	SLC29A3 (P16R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3164067	NM_018344.6(SLC29A3):c.1256G>A (p.Ser419Asn)	SLC29A3 (S341N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3024163	NM_018344.6(SLC29A3):c.2T>A (p.Met1Lys)	SLC29A3 (M1K)	Single nucleotide variant (missense variant +2 more)	H syndrome	GLikely pathogenic
Select item 3018590	NM_018344.6(SLC29A3):c.6C>T (p.Ala2=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 3015272	NM_018344.6(SLC29A3):c.897C>T (p.Arg299=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 3013691	NM_018344.6(SLC29A3):c.1350_1354del (p.Val451fs)	SLC29A3 (V373fs +1 more)	Deletion (3 prime UTR variant +2 more)	H syndrome	GConflicting classifications of pathogenicity
Select item 3013069	NM_018344.6(SLC29A3):c.1125T>C (p.Asn375=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 3011883	NM_018344.6(SLC29A3):c.330C>G (p.Ala110=)	SLC29A3	Single nucleotide variant (synonymous variant)	H syndrome	GLikely benign
Select item 3011427	NM_018344.6(SLC29A3):c.517_519del (p.Val173del)	SLC29A3 (V95del +1 more)	Deletion (inframe_deletion +1 more)	H syndrome	GUncertain significance
Select item 3009781	NM_018344.6(SLC29A3):c.1041C>T (p.Ile347=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 3000065	NM_018344.6(SLC29A3):c.384-7G>A	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely benign
Select item 2998438	NM_018344.6(SLC29A3):c.610+12G>A	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely benign
Select item 2994764	NM_018344.6(SLC29A3):c.753G>C (p.Leu251=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	H syndrome	GLikely benign
Select item 2971312	NM_018344.6(SLC29A3):c.528C>T (p.Ser176=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	H syndrome	GLikely benign
Select item 2967147	NM_018344.6(SLC29A3):c.714T>G (p.Thr238=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	H syndrome	GLikely benign
Select item 2909338	NM_018344.6(SLC29A3):c.711C>T (p.Ala237=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	H syndrome	GLikely benign
Select item 2903449	NM_018344.6(SLC29A3):c.610+17G>C	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely benign
Select item 2903437	NM_018344.6(SLC29A3):c.927C>T (p.Gly309=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 2903090	NM_018344.6(SLC29A3):c.1246G>A (p.Ala416Thr)	SLC29A3 (A416T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2901357	NM_018344.6(SLC29A3):c.369C>T (p.Phe123=)	SLC29A3	Single nucleotide variant (synonymous variant)	H syndrome	GLikely benign
Select item 2899061	NM_018344.6(SLC29A3):c.297C>G (p.Ile99Met)	SLC29A3 (I21M +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 2897240	NM_018344.6(SLC29A3):c.342C>T (p.Pro114=)	SLC29A3	Single nucleotide variant (synonymous variant)	H syndrome	GLikely benign
Select item 2894158	NM_018344.6(SLC29A3):c.610+17G>A	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely benign
Select item 2890191	NM_018344.6(SLC29A3):c.967T>C (p.Tyr323His)	SLC29A3 (Y323H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2877067	NM_018344.6(SLC29A3):c.185T>C (p.Ile62Thr)	SLC29A3 (I62T)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 2876710	NM_018344.6(SLC29A3):c.201A>G (p.Pro67=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 2871962	NM_018344.6(SLC29A3):c.372G>T (p.Leu124=)	SLC29A3	Single nucleotide variant (synonymous variant)	H syndrome	GLikely benign
Select item 2818547	NM_018344.6(SLC29A3):c.1+14G>C	SLC29A3, LOC130004025	Single nucleotide variant (5 prime UTR variant +1 more)	H syndrome	GLikely benign
Select item 2813887	NM_018344.6(SLC29A3):c.1173C>G (p.Pro391=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 2812038	NM_018344.6(SLC29A3):c.610+13G>A	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely benign
Select item 2810805	NM_018344.6(SLC29A3):c.301-10G>A	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely benign
Select item 2809981	NM_018344.6(SLC29A3):c.330C>T (p.Ala110=)	SLC29A3	Single nucleotide variant (synonymous variant)	H syndrome	GLikely benign
Select item 2803095	NM_018344.6(SLC29A3):c.659T>G (p.Leu220Trp)	SLC29A3 (L142W +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 2802705	NM_018344.6(SLC29A3):c.1287C>T (p.Leu429=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 2788367	NM_018344.6(SLC29A3):c.777C>A (p.Tyr259Ter)	SLC29A3 (Y181* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GPathogenic
Select item 2785697	NM_018344.6(SLC29A3):c.117G>T (p.Pro39=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 2783465	NM_018344.6(SLC29A3):c.59_60dup (p.Ser21fs)	SLC29A3 (S21fs)	Microsatellite (frameshift variant +2 more)	H syndrome	GPathogenic
Select item 2777161	NM_018344.6(SLC29A3):c.510C>G (p.Val170=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	H syndrome	GLikely benign
Select item 2776179	NM_018344.6(SLC29A3):c.946TTC[1] (p.Phe317del)	SLC29A3 (F239del +1 more)	Microsatellite (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2771662	NM_018344.6(SLC29A3):c.198G>T (p.Leu66=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 2769680	NM_018344.6(SLC29A3):c.383+11C>G	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely benign
Select item 2760963	NM_018344.6(SLC29A3):c.1185C>G (p.Leu395=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 2760413	NM_018344.6(SLC29A3):c.67_70del (p.Leu24fs)	SLC29A3 (L24fs)	Deletion (frameshift variant +2 more)	H syndrome	GPathogenic
Select item 2757245	NM_018344.6(SLC29A3):c.1043C>T (p.Pro348Leu)	SLC29A3 (P348L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2751647	NM_018344.6(SLC29A3):c.773+18del	SLC29A3	Deletion (intron variant)	H syndrome	GLikely benign
Select item 2750513	NM_018344.6(SLC29A3):c.919dup (p.Ser307fs)	SLC29A3 (S307fs +1 more)	Duplication (3 prime UTR variant +2 more)	H syndrome	GPathogenic
Select item 2745704	NM_018344.6(SLC29A3):c.990C>T (p.Ile330=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 2741837	NM_018344.6(SLC29A3):c.57C>G (p.Thr19=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 2738814	NM_018344.6(SLC29A3):c.474C>G (p.Ser158=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	H syndrome	GLikely benign
Select item 2721497	NM_018344.6(SLC29A3):c.1077_1084del (p.Asp359fs)	SLC29A3 (D359fs +1 more)	Deletion (3 prime UTR variant +2 more)	H syndrome	GPathogenic
Select item 2717510	NM_018344.6(SLC29A3):c.1005G>A (p.Lys335=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 2712598	NM_018344.6(SLC29A3):c.1389G>A (p.Leu463=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 2696651	NM_018344.6(SLC29A3):c.301-15C>T	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely benign
Select item 2692984	NM_018344.6(SLC29A3):c.1369G>A (p.Val457Met)	SLC29A3 (V379M +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2688386	NM_018344.6(SLC29A3):c.610+712C>G	SLC29A3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2684606	GRCh37/hg19 10q22.1(chr10:73048012-73382032)x3	CDH23, SLC29A3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
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 2628213	NM_018344.6(SLC29A3):c.301-62C>G	SLC29A3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2548287	NM_018344.6(SLC29A3):c.878C>A (p.Ser293Tyr)	SLC29A3 (S215Y +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2548284	NM_018344.6(SLC29A3):c.877T>A (p.Ser293Thr)	SLC29A3 (S215T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2441776	NM_018344.6(SLC29A3):c.2-4A>G	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely pathogenic
Select item 2426464	NC_000010.10:g.(?_73111299)_(73122365_?)del	SLC29A3	Deletion	H syndrome	GPathogenic
Select item 2426463	NC_000010.10:g.(?_73121691)_(73122365_?)del	SLC29A3	Deletion	H syndrome	GPathogenic
Select item 2426462	NC_000010.10:g.(?_73115818)_(73116020_?)del	SLC29A3	Deletion	H syndrome	GPathogenic
Select item 2302786	NM_018344.6(SLC29A3):c.635G>A (p.Ser212Asn)	SLC29A3 (S134N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280885	NM_018344.6(SLC29A3):c.546C>G (p.Phe182Leu)	SLC29A3 (F104L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240462	NM_018344.6(SLC29A3):c.214A>T (p.Ile72Phe)	SLC29A3 (I72F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2216320	NM_018344.6(SLC29A3):c.1330G>A (p.Glu444Lys)	SLC29A3 (E444K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2194392	NM_018344.6(SLC29A3):c.1175T>C (p.Leu392Pro)	SLC29A3 (L314P +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2193243	NM_018344.6(SLC29A3):c.972C>A (p.Pro324=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 2175749	NM_018344.6(SLC29A3):c.1132G>A (p.Ala378Thr)	SLC29A3 (A378T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2173613	NM_018344.6(SLC29A3):c.1323G>A (p.Val441=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 2171802	NM_018344.6(SLC29A3):c.774G>C (p.Arg258Ser)	SLC29A3 (R258S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2171120	NM_018344.6(SLC29A3):c.384-8C>T	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely benign
Select item 2169550	NM_018344.6(SLC29A3):c.1172C>A (p.Pro391His)	SLC29A3 (P391H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2162834	NM_018344.6(SLC29A3):c.1028C>T (p.Thr343Ile)	SLC29A3 (T265I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2158847	NM_018344.6(SLC29A3):c.384-15G>T	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely benign
Select item 2158704	NM_018344.6(SLC29A3):c.611-11G>A	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely benign
Select item 2156015	NM_018344.6(SLC29A3):c.498G>A (p.Ala166=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	H syndrome	GLikely benign
Select item 2155646	NM_018344.6(SLC29A3):c.260G>A (p.Ser87Asn)	SLC29A3 (S9N +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 2147396	NM_018344.6(SLC29A3):c.1194C>T (p.Tyr398=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 2143985	NM_018344.6(SLC29A3):c.485G>A (p.Arg162His)	SLC29A3 (R84H +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 2143150	NM_018344.6(SLC29A3):c.1397C>G (p.Ala466Gly)	SLC29A3 (A466G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2142118	NM_018344.6(SLC29A3):c.837C>T (p.Asp279=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 2136876	NM_018344.6(SLC29A3):c.1+2T>G	LOC130004025, SLC29A3	Single nucleotide variant (5 prime UTR variant +2 more)	H syndrome	GLikely pathogenic
Select item 2132437	NM_018344.6(SLC29A3):c.1118G>A (p.Gly373Glu)	SLC29A3 (G373E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2130744	NM_018344.6(SLC29A3):c.230A>G (p.Tyr77Cys)	SLC29A3 (Y77C)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 2123432	NM_018344.6(SLC29A3):c.839C>G (p.Ser280Cys)	SLC29A3 (S202C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2118912	NM_018344.6(SLC29A3):c.403G>C (p.Val135Leu)	SLC29A3 (V135L +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 2118235	NM_018344.6(SLC29A3):c.358G>T (p.Val120Leu)	SLC29A3 (V120L +1 more)	Single nucleotide variant (missense variant)	H syndrome	GUncertain significance

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