ClinVar for MedGen (Select 400532) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	GUncertain significance
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 (missense 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	LOC130004025, SLC29A3	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 (synonymous 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 (missense variant +2 more)	H syndrome	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 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 (non-coding transcript 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
Select item 2115157	NM_018344.6(SLC29A3):c.749T>C (p.Leu250Pro)	SLC29A3 (L172P +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 2108910	NM_018344.6(SLC29A3):c.443T>G (p.Val148Gly)	SLC29A3 (V148G +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 2108862	NM_018344.6(SLC29A3):c.1283A>G (p.Tyr428Cys)	SLC29A3 (Y428C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2103511	NM_018344.6(SLC29A3):c.728T>C (p.Leu243Pro)	SLC29A3 (L165P +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 2093958	NM_018344.6(SLC29A3):c.1230G>A (p.Gln410=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 2090491	NM_018344.6(SLC29A3):c.773+13C>T	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely benign
Select item 2090383	NM_018344.6(SLC29A3):c.128T>C (p.Leu43Pro)	SLC29A3 (L43P)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 2089816	NM_018344.6(SLC29A3):c.1004A>G (p.Lys335Arg)	SLC29A3 (K335R +1 more)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 2087360	NM_018344.6(SLC29A3):c.192T>C (p.Ser64=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 2086492	NM_018344.6(SLC29A3):c.382_383del (p.Arg128fs)	SLC29A3 (R128fs +1 more)	Deletion (frameshift variant)	H syndrome	GPathogenic
Select item 2083613	NM_018344.6(SLC29A3):c.300+14T>A	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely benign
Select item 2082850	NM_018344.6(SLC29A3):c.604A>G (p.Ile202Val)	SLC29A3 (I202V +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 2081339	NM_018344.6(SLC29A3):c.583A>T (p.Met195Leu)	SLC29A3 (M117L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	H syndrome	GUncertain significance
Select item 2076831	NM_018344.6(SLC29A3):c.517G>T (p.Val173Leu)	SLC29A3 (V173L +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 2074465	NM_018344.6(SLC29A3):c.1234G>A (p.Asp412Asn)	SLC29A3 (D412N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2072826	NM_018344.6(SLC29A3):c.1246G>T (p.Ala416Ser)	SLC29A3 (A338S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2069902	NM_018344.6(SLC29A3):c.1342G>A (p.Ala448Thr)	SLC29A3 (A370T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2066704	NM_018344.6(SLC29A3):c.453A>G (p.Ala151=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	H syndrome	GLikely benign
Select item 2060659	NM_018344.6(SLC29A3):c.1359G>A (p.Met453Ile)	SLC29A3 (M453I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2059288	NM_018344.6(SLC29A3):c.163A>G (p.Ile55Val)	SLC29A3 (I55V)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 2059136	NM_018344.6(SLC29A3):c.1142G>A (p.Gly381Glu)	SLC29A3 (G381E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GUncertain significance
Select item 2057680	NM_018344.6(SLC29A3):c.942C>T (p.Tyr314=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GLikely benign
Select item 2052016	NM_018344.6(SLC29A3):c.311A>C (p.Glu104Ala)	SLC29A3 (E26A +1 more)	Single nucleotide variant (missense variant)	H syndrome	GUncertain significance

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