ClinVar for Gene (Select 189) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338981	NM_000030.3(AGXT):c.740T>G (p.Leu247Arg)	AGXT (L247R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336473	NM_000030.3(AGXT):c.245G>C (p.Gly82Ala)	AGXT (G82A)	Single nucleotide variant (missense variant)	Primary hyperoxaluria	GLikely pathogenic
Select item 3336461	NM_000030.3(AGXT):c.1093G>A (p.Gly365Ser)	AGXT (G365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276756	NM_000030.3(AGXT):c.104C>A (p.Pro35His)	AGXT (P35H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276736	NM_000030.3(AGXT):c.104C>G (p.Pro35Arg)	AGXT (P35R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276730	NM_000030.3(AGXT):c.1064C>T (p.Thr355Met)	AGXT (T355M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254700	NM_000030.3(AGXT):c.1045_1046delinsAA (p.Gly349Asn)	AGXT (G349N)	Indel (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 3251827	NM_000030.3(AGXT):c.873C>A (p.His291Gln)	AGXT (H291Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251511	NM_000030.3(AGXT):c.497T>A (p.Leu166His)	AGXT (L166H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247433	NC_000002.11:g.(?_241808273)_(241808789_?)del	AGXT	Deletion	not provided	GPathogenic
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	ACKR3, AGXT +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3247233	NC_000002.11:g.(?_241676460)_(241818238_?)dup	AGXT, KIF1A	Duplication	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 3235061	NM_000030.3(AGXT):c.719_721del (p.Phe240del)	AGXT (F240del)	Deletion (inframe_deletion)	Primary hyperoxaluria, type I	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148872	GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1	AGXT, ANKMY1 +35 more	Copy number loss	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3097510	NM_000030.3(AGXT):c.859A>G (p.Ser287Gly)	AGXT (S287G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097505	NM_000030.3(AGXT):c.847-3C>T	AGXT	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3097488	NM_000030.3(AGXT):c.365G>A (p.Arg122Gln)	AGXT (R122Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068847	NM_000030.3(AGXT):c.165+15_166-18dup	AGXT	Duplication (intron variant)	not specified	GBenign
Select item 3065243	NM_000030.3(AGXT):c.680+3G>C	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3048343	NM_000030.3(AGXT):c.-6C>T	AGXT	Single nucleotide variant (5 prime UTR variant)	AGXT-related disorder	GLikely benign
Select item 3045369	NM_000030.3(AGXT):c.776+3del	AGXT	Deletion (intron variant)	AGXT-related disorder	GLikely benign
Select item 3023159	NM_000030.3(AGXT):c.595+18G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018764	NM_000030.3(AGXT):c.32_33delinsTT (p.Pro11Leu)	AGXT (P11L)	Indel (missense variant)	not provided	GLikely benign
Select item 3016202	NM_000030.3(AGXT):c.54C>T (p.Leu18=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016137	NM_000030.3(AGXT):c.423+7G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015120	NM_000030.3(AGXT):c.846+16T>C	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012711	NM_000030.3(AGXT):c.261G>A (p.Glu87=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007934	NM_000030.3(AGXT):c.724C>T (p.Leu242=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006934	NM_000030.3(AGXT):c.424-12C>G	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003228	NM_000030.3(AGXT):c.1071+8G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989797	NM_000030.3(AGXT):c.166-17A>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989717	NM_000030.3(AGXT):c.777-11G>C	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985994	NM_000030.3(AGXT):c.524+15A>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984468	NM_000030.3(AGXT):c.680+12A>C	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983696	NM_000030.3(AGXT):c.942+16G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982980	NM_000030.3(AGXT):c.60C>A (p.Ile20=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981350	NM_000030.3(AGXT):c.1072-17del	AGXT	Deletion (intron variant)	not provided	GLikely benign
Select item 2978274	NM_000030.3(AGXT):c.573C>A (p.Thr191=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977299	NM_000030.3(AGXT):c.358+12G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975199	NM_000030.3(AGXT):c.423+9C>G	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974911	NM_000030.3(AGXT):c.351G>A (p.Glu117=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974803	NM_000030.3(AGXT):c.63C>T (p.Pro21=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964437	NM_000030.3(AGXT):c.1071+18G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958947	NM_000030.3(AGXT):c.424-17C>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955473	NM_000030.3(AGXT):c.776+15G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955032	NM_000030.3(AGXT):c.847-11C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920560	NM_000030.3(AGXT):c.424-17C>G	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919761	NM_000030.3(AGXT):c.846+18C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919480	NM_000030.3(AGXT):c.524+20G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918474	NM_000030.3(AGXT):c.358+18G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917149	NM_000030.3(AGXT):c.595+12C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916921	NM_000030.3(AGXT):c.524+19C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916735	NM_000030.3(AGXT):c.1153C>T (p.Gln385Ter)	AGXT (Q385*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2913246	NM_000030.3(AGXT):c.372C>T (p.His124=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912808	NM_000030.3(AGXT):c.942+19T>C	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912007	NM_000030.3(AGXT):c.282G>A (p.Leu94=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910849	NM_000030.3(AGXT):c.723C>T (p.Tyr241=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910758	NM_000030.3(AGXT):c.960del (p.Val321fs)	AGXT (V321fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2909137	NM_000030.3(AGXT):c.777-14dup	AGXT	Duplication (intron variant)	not provided	GBenign
Select item 2905068	NM_000030.3(AGXT):c.847-17C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904314	NM_000030.3(AGXT):c.216C>G (p.Asn72Lys)	AGXT (N72K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2901644	NM_000030.3(AGXT):c.595+11G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901261	NM_000030.3(AGXT):c.423+11C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900158	NM_000030.3(AGXT):c.423+19G>C	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899669	NM_000030.3(AGXT):c.847-12T>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899098	NM_000030.3(AGXT):c.847-16G>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898942	NM_000030.3(AGXT):c.1071+13G>C	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893867	NM_000030.3(AGXT):c.847-13A>G	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891878	NM_000030.3(AGXT):c.777-14C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890729	NM_000030.3(AGXT):c.777-14C>G	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888048	NM_000030.3(AGXT):c.424-11del	AGXT	Deletion (intron variant)	not provided	GLikely benign
Select item 2887186	NM_000030.3(AGXT):c.942+14T>C	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887153	NM_000030.3(AGXT):c.359-20C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886950	NM_000030.3(AGXT):c.423+14G>C	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884775	NM_000030.3(AGXT):c.897T>C (p.His299=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883703	NM_000030.3(AGXT):c.424-13C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881802	NM_000030.3(AGXT):c.359-8G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881146	NM_000030.3(AGXT):c.596-12A>G	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877327	NM_000030.3(AGXT):c.918G>C (p.Gly306=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874528	NM_000030.3(AGXT):c.702G>A (p.Lys234=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872893	NM_000030.3(AGXT):c.943-17C>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870727	NM_000030.3(AGXT):c.777-17C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870258	NM_000030.3(AGXT):c.387C>T (p.Asp129=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869395	NM_000030.3(AGXT):c.369G>A (p.Val123=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865631	NM_000030.3(AGXT):c.359-9del	AGXT	Deletion (intron variant)	not provided	GLikely benign
Select item 2861216	NM_000030.3(AGXT):c.408G>A (p.Leu136=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859224	NM_000030.3(AGXT):c.726G>A (p.Leu242=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859006	NM_000030.3(AGXT):c.673A>T (p.Lys225Ter)	AGXT (K225*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2856505	NM_000030.3(AGXT):c.359-1G>A	AGXT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2855083	NM_000030.3(AGXT):c.1071+14C>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852400	NM_000030.3(AGXT):c.288T>C (p.Pro96=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850388	NM_000030.3(AGXT):c.358+19T>G	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848698	NM_000030.3(AGXT):c.75G>T (p.Leu25=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848079	NM_000030.3(AGXT):c.524+18G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847462	NM_000030.3(AGXT):c.90T>C (p.Pro30=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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