ClinVar for Gene (Select 100132529) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019201	NM_000353.3(TAT):c.1041+14C>T	TAT-AS1, TAT	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 3018817	NM_000353.3(TAT):c.760-14G>A	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 3017333	NM_000353.3(TAT):c.1125+15_1125+17del	TAT, TAT-AS1	Deletion (intron variant)	Tyrosinemia type II	GLikely benign
Select item 3016797	NM_000353.3(TAT):c.1125+15G>A	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 3012004	NM_000353.3(TAT):c.760-11C>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 3007829	NM_000353.3(TAT):c.912+12G>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 3002270	NM_000353.3(TAT):c.913-15G>A	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 3001361	NM_000353.3(TAT):c.1041+19C>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2979846	NM_000353.3(TAT):c.759+13C>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2977949	NM_000353.3(TAT):c.1143A>G (p.Glu381=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2976091	NM_000353.3(TAT):c.913-11del	TAT, TAT-AS1	Deletion (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2970837	NM_000353.3(TAT):c.1185G>A (p.Arg395=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2955929	NM_000353.3(TAT):c.707-9T>A	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2918482	NM_000353.3(TAT):c.1047T>C (p.Asn349=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2906381	NM_000353.3(TAT):c.1042-6T>G	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2901178	NM_000353.3(TAT):c.707-15A>G	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2899928	NM_000353.3(TAT):c.648del (p.Pro217fs)	LOC111413029, TAT +1 more (P217fs)	Deletion (non-coding transcript variant +1 more)	Tyrosinemia type II	GPathogenic
Select item 2897676	NM_000353.3(TAT):c.1041+13C>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2895315	NM_000353.3(TAT):c.912+16A>C	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2891413	NM_000353.3(TAT):c.1041+17C>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2890354	NM_000353.3(TAT):c.1020C>T (p.His340=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2887172	NM_000353.3(TAT):c.1282C>T (p.Leu428=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2884949	NM_000353.3(TAT):c.912+20G>C	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2867004	NM_000353.3(TAT):c.849G>T (p.Leu283=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2866195	NM_000353.3(TAT):c.1042-15T>C	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2858036	NM_000353.3(TAT):c.1042-2_1042del	TAT, TAT-AS1	Deletion (splice acceptor variant)	Tyrosinemia type II	GLikely pathogenic
Select item 2856216	NM_000353.3(TAT):c.1002C>T (p.Thr334=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2855953	NM_000353.3(TAT):c.1221A>G (p.Ala407=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2845090	NM_000353.3(TAT):c.810C>T (p.Val270=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2843502	NM_000353.3(TAT):c.915C>A (p.Ile305=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2833547	NM_000353.3(TAT):c.1224+11G>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2828690	NM_000353.3(TAT):c.1041+19C>G	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2818890	NM_000353.3(TAT):c.1245C>T (p.Phe415=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2813015	NM_000353.3(TAT):c.783A>G (p.Glu261=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2812405	NM_000353.3(TAT):c.706+7C>T	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 2807524	NM_000353.3(TAT):c.864G>A (p.Arg288=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2798500	NM_000353.3(TAT):c.913-15G>C	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2794541	NM_000353.3(TAT):c.849G>A (p.Leu283=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2782078	NM_000353.3(TAT):c.810C>A (p.Val270=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2770800	NM_000353.3(TAT):c.760-14G>C	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2766830	NM_000353.3(TAT):c.1125+10T>A	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2766326	NM_000353.3(TAT):c.1225-12T>C	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2762806	NM_000353.3(TAT):c.1042-16T>C	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2761805	NM_000353.3(TAT):c.568-7T>C	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 2760593	NM_000353.3(TAT):c.1098C>A (p.Val366=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2759733	NM_000353.3(TAT):c.601C>T (p.Leu201=)	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 2759436	NM_000353.3(TAT):c.1311C>T (p.Phe437=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2752762	NM_000353.3(TAT):c.1122C>T (p.Leu374=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2752519	NM_000353.3(TAT):c.1041+2T>G	TAT, TAT-AS1	Single nucleotide variant (splice donor variant)	Tyrosinemia type II	GLikely pathogenic
Select item 2750643	NM_000353.3(TAT):c.1126-8T>C	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2747632	NM_000353.3(TAT):c.1225-15C>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2743466	NM_000353.3(TAT):c.825T>A (p.Cys275Ter)	TAT, TAT-AS1 (C275*)	Single nucleotide variant (nonsense)	Tyrosinemia type II	GPathogenic
Select item 2740027	NM_000353.3(TAT):c.568-17C>T	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 2738585	NM_000353.3(TAT):c.1126-17C>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2738020	NM_000353.3(TAT):c.1125+16G>A	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2734716	NM_000353.3(TAT):c.882T>C (p.Ile294=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2729100	NM_000353.3(TAT):c.1126-15C>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2714776	NM_000353.3(TAT):c.759+17A>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2711453	NM_000353.3(TAT):c.1188_1191del (p.Val397fs)	TAT, TAT-AS1 (V397fs)	Deletion (frameshift variant)	Tyrosinemia type II	GPathogenic
Select item 2703184	NM_000353.3(TAT):c.742G>T (p.Glu248Ter)	TAT, TAT-AS1 (E248*)	Single nucleotide variant (nonsense)	Tyrosinemia type II	GPathogenic
Select item 2702742	NM_000353.3(TAT):c.669A>G (p.Ser223=)	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 2699671	NM_000353.3(TAT):c.912+12_912+13insGGG	TAT, TAT-AS1	Insertion (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2694777	NM_000353.3(TAT):c.759+19A>G	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2679100	NM_000353.3(TAT):c.599_603del (p.Gln200fs)	LOC111413029, TAT +1 more (Q200fs)	Deletion (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely pathogenic
Select item 2679099	NM_000353.3(TAT):c.706+2T>C	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely pathogenic
Select item 2679098	NM_000353.3(TAT):c.1028_1029del (p.Leu343fs)	TAT, TAT-AS1 (L343fs)	Deletion (frameshift variant)	Tyrosinemia type II	GLikely pathogenic
Select item 2679097	NM_000353.3(TAT):c.1224G>T (p.Thr408=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GPathogenic/Likely pathogenic
Select item 2626796	NM_000353.3(TAT):c.912+2T>G	TAT, TAT-AS1	Single nucleotide variant (splice donor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2626791	NM_000353.3(TAT):c.1085G>T (p.Gly362Val)	TAT-AS1, TAT (G362V)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2573399	NM_000353.3(TAT):c.709G>C (p.Ala237Pro)	TAT-AS1, TAT (A237P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547395	NM_000353.3(TAT):c.1087C>T (p.Leu363Phe)	TAT, TAT-AS1 (L363F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436956	NM_000353.3(TAT):c.805G>A (p.Asp269Asn)	TAT, TAT-AS1 (D269N)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GUncertain significance
Select item 2272870	NM_000353.3(TAT):c.1188A>C (p.Leu396Phe)	TAT, TAT-AS1 (L396F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201019	NM_000353.3(TAT):c.1042-12del	TAT, TAT-AS1	Deletion (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2171483	NM_000353.3(TAT):c.1100G>A (p.Arg367His)	TAT-AS1, TAT (R367H)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GUncertain significance
Select item 2168024	NM_000353.3(TAT):c.1332T>C (p.Cys444=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2157698	NM_000353.3(TAT):c.723T>C (p.Cys241=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2157388	NM_000353.3(TAT):c.1125+4A>G	TAT-AS1, TAT	Single nucleotide variant (intron variant)	Tyrosinemia type II	GUncertain significance
Select item 2151808	NM_000353.3(TAT):c.944G>A (p.Arg315His)	TAT, TAT-AS1 (R315H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2142596	NM_000353.3(TAT):c.1139T>C (p.Met380Thr)	TAT-AS1, TAT (M380T)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GUncertain significance
Select item 2142279	NM_000353.3(TAT):c.997C>T (p.Arg333Cys)	TAT, TAT-AS1 (R333C)	Single nucleotide variant (missense variant)	Tyrosinemia type II +1 more	GUncertain significance
Select item 2140871	NM_000353.3(TAT):c.756C>T (p.Asp252=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2129086	NM_000353.3(TAT):c.1125+1del	TAT, TAT-AS1	Deletion (splice donor variant)	Tyrosinemia type II	GPathogenic
Select item 2124804	NM_000353.3(TAT):c.1266C>T (p.Val422=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2102156	NM_000353.3(TAT):c.993A>T (p.Leu331=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2090765	NM_000353.3(TAT):c.759+10G>A	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2087938	NM_000353.3(TAT):c.979C>T (p.Leu327=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2078365	NM_000353.3(TAT):c.949T>C (p.Leu317=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2064017	NM_000353.3(TAT):c.1364A>T (p.Ter455Leu)	TAT, TAT-AS1	Single nucleotide variant (stop lost)	Tyrosinemia type II	GUncertain significance
Select item 2045794	NM_000353.3(TAT):c.769G>A (p.Asp257Asn)	TAT-AS1, TAT (D257N)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GUncertain significance
Select item 2042217	NM_000353.3(TAT):c.1125+11G>A	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2000909	NM_000353.3(TAT):c.1224+8C>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 1982837	NM_000353.3(TAT):c.1038C>G (p.Leu346=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1979463	NM_000353.3(TAT):c.760-7T>C	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 1976121	NM_000353.3(TAT):c.1098C>G (p.Val366=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1949305	NM_000353.3(TAT):c.1225-10C>G	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 1947304	NM_000353.3(TAT):c.960T>C (p.Cys320=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1914775	NM_000353.3(TAT):c.943C>T (p.Arg315Cys)	TAT-AS1, TAT (R315C)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GUncertain significance
Select item 1905267	NM_000353.3(TAT):c.993A>G (p.Leu331=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1725893	NM_000353.3(TAT):c.680_692del (p.Lys227fs)	LOC111413029, TAT +1 more (K227fs)	Deletion (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely pathogenic

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