C0268487[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 795929	NM_000353.3(TAT):c.1329T>C (p.His443=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	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 1142400	NM_000353.3(TAT):c.1299G>C (p.Arg433=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 550347	NM_000353.3(TAT):c.1298G>A (p.Arg433Gln)	TAT, TAT-AS1 (R433Q)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GConflicting classifications of pathogenicity
Select item 553180	NM_000353.3(TAT):c.1297C>T (p.Arg433Trp)	TAT, TAT-AS1 (R433W)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GPathogenic/Likely pathogenic
Select item 1548926	NM_000353.3(TAT):c.1293C>T (p.Cys431=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 755527	NM_000353.3(TAT):c.1290G>A (p.Ala430=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GConflicting classifications of pathogenicity
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 1499100	NM_000353.3(TAT):c.1281G>A (p.Met427Ile)	TAT, TAT-AS1 (M427I)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GUncertain significance
Select item 1099740	NM_000353.3(TAT):c.1269C>T (p.Pro423=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
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 1160793	NM_000353.3(TAT):c.1263A>C (p.Thr421=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 550062	NM_000353.3(TAT):c.1250G>A (p.Arg417Gln)	TAT, TAT-AS1 (R417Q)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GConflicting classifications of pathogenicity
Select item 404	NM_000353.3(TAT):c.1249C>T (p.Arg417Ter)	TAT, TAT-AS1 (R417*)	Single nucleotide variant (nonsense)	Tyrosinemia type II	GPathogenic
Select item 1673472	NM_000353.3(TAT):c.1248C>T (p.Ile416=)	TAT, TAT-AS1	Single nucleotide variant (synonymous 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 785768	NM_000353.3(TAT):c.1242T>C (p.Asn414=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GBenign
Select item 1094450	NM_000353.3(TAT):c.1239G>A (p.Pro413=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1077640	NM_000353.3(TAT):c.1236C>T (p.Tyr412=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1547154	NM_000353.3(TAT):c.1233G>A (p.Glu411=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1673342	NM_000353.3(TAT):c.1225-5T>C	TAT, TAT-AS1	Single nucleotide variant (intron 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 2766326	NM_000353.3(TAT):c.1225-12T>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 2833547	NM_000353.3(TAT):c.1224+11G>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 1111921	NM_000353.3(TAT):c.1224+9_1224+10del	TAT, TAT-AS1	Deletion (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 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 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 1159571	NM_000353.3(TAT):c.1209C>T (p.His403=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1583582	NM_000353.3(TAT):c.1206C>T (p.Val402=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1105534	NM_000353.3(TAT):c.1203T>G (p.Ser401=)	TAT, TAT-AS1	Single nucleotide variant (synonymous 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 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 1160229	NM_000353.3(TAT):c.1179G>A (p.Thr393=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 965652	NM_000353.3(TAT):c.1178C>T (p.Thr393Met)	TAT-AS1, TAT (T393M)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GUncertain significance
Select item 320404	NM_000353.3(TAT):c.1173G>A (p.Glu391=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1539798	NM_000353.3(TAT):c.1170G>T (p.Val390=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1139038	NM_000353.3(TAT):c.1164C>T (p.Asn388=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1093114	NM_000353.3(TAT):c.1155A>G (p.Glu385=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1149810	NM_000353.3(TAT):c.1152A>G (p.Pro384=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1084862	NM_000353.3(TAT):c.1152A>C (p.Pro384=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 886423	NM_000353.3(TAT):c.1146T>C (p.His382=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GConflicting classifications of pathogenicity
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 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 1149159	NM_000353.3(TAT):c.1131A>C (p.Gly377=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1552946	NM_000353.3(TAT):c.1126-6G>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
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 1148054	NM_000353.3(TAT):c.1126-10G>A	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 1647421	NM_000353.3(TAT):c.1126-14T>C	TAT-AS1, TAT	Single nucleotide variant (intron 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 2738585	NM_000353.3(TAT):c.1126-17C>T	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 2738020	NM_000353.3(TAT):c.1125+16G>A	TAT, TAT-AS1	Single nucleotide variant (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 2042217	NM_000353.3(TAT):c.1125+11G>A	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 1561484	NM_000353.3(TAT):c.1125+10T>C	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 1614390	NM_000353.3(TAT):c.1125+9G>A	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 1084468	NM_000353.3(TAT):c.1125+8T>C	TAT, TAT-AS1	Single nucleotide variant (intron 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 2129086	NM_000353.3(TAT):c.1125+1del	TAT, TAT-AS1	Deletion (splice donor variant)	Tyrosinemia type II	GPathogenic
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 1623227	NM_000353.3(TAT):c.1119C>T (p.Tyr373=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1144564	NM_000353.3(TAT):c.1113T>G (p.Ala371=)	TAT, TAT-AS1	Single nucleotide variant (synonymous 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 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 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 1084510	NM_000353.3(TAT):c.1098C>T (p.Val366=)	TAT-AS1, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 320405	NM_000353.3(TAT):c.1090C>T (p.Arg364Trp)	TAT, TAT-AS1 (R364W)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GUncertain significance
Select item 1112364	NM_000353.3(TAT):c.1069T>C (p.Leu357=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1097418	NM_000353.3(TAT):c.1068G>T (p.Ala356=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 459902	NM_000353.3(TAT):c.1068G>A (p.Ala356=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1554308	NM_000353.3(TAT):c.1065G>A (p.Gly355=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1657942	NM_000353.3(TAT):c.1062T>C (p.Tyr354=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1128079	NM_000353.3(TAT):c.1050T>C (p.Ala350=)	TAT, TAT-AS1	Single nucleotide variant (synonymous 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 553660	NM_000353.3(TAT):c.1047del (p.Asn349fs)	TAT, TAT-AS1 (N349fs)	Deletion (frameshift variant)	Tyrosinemia type II	GPathogenic/Likely pathogenic
Select item 320406	NM_000353.3(TAT):c.1046A>G (p.Asn349Ser)	TAT, TAT-AS1 (N349S)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GUncertain significance
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 1135123	NM_000353.3(TAT):c.1042-5del	TAT, TAT-AS1	Deletion (intron 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 1138830	NM_000353.3(TAT):c.1042-9T>G	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 1570349	NM_000353.3(TAT):c.1042-10C>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2201019	NM_000353.3(TAT):c.1042-12del	TAT, TAT-AS1	Deletion (intron variant)	Tyrosinemia type II	GLikely benign
Select item 320407	NM_000353.3(TAT):c.1042-12C>T	TAT, TAT-AS1	Single nucleotide variant (intron variant)	Tyrosinemia type II	GConflicting classifications of pathogenicity
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 2762806	NM_000353.3(TAT):c.1042-16T>C	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 2828690	NM_000353.3(TAT):c.1041+19C>G	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 3019201	NM_000353.3(TAT):c.1041+14C>T	TAT-AS1, TAT	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
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 1111293	NM_000353.3(TAT):c.1041+10G>A	TAT, TAT-AS1	Single nucleotide variant (intron 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 553223	NM_000353.3(TAT):c.1041+2T>C	TAT, TAT-AS1	Single nucleotide variant (splice donor variant)	Tyrosinemia type II	GLikely pathogenic
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 2890354	NM_000353.3(TAT):c.1020C>T (p.His340=)	TAT, TAT-AS1	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign

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