TAT-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 1707463	Single allele	AP1G1, CALB2 +36 more	Duplication	not specified	GUncertain significance
Select item 59995	GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3	AP1G1, ATXN1L +99 more	Copy number gain	See cases	GUncertain significance
Select item 320386	NM_000353.3(TAT):c.*1276T>A	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GBenign
Select item 320385	NM_000353.3(TAT):c.*1276del	TAT, TAT-AS1	Deletion (3 prime UTR variant)	Hypertyrosinemia	GUncertain significance
Select item 320387	NM_000353.3(TAT):c.*1066G>A	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 320388	NM_000353.3(TAT):c.*1056G>C	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GLikely benign
Select item 320389	NM_000353.3(TAT):c.*1055A>G	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 887362	NM_000353.3(TAT):c.*991T>C	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 320390	NM_000353.3(TAT):c.*983A>G	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 887363	NM_000353.3(TAT):c.*863G>A	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GLikely benign
Select item 320391	NM_000353.3(TAT):c.*852G>A	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 320392	NM_000353.3(TAT):c.*813G>C	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GLikely benign
Select item 320393	NM_000353.3(TAT):c.*774G>A	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 887549	NM_000353.3(TAT):c.*742G>A	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 887550	NM_000353.3(TAT):c.*713T>G	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 320394	NM_000353.3(TAT):c.*682T>C	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GLikely benign
Select item 887551	NM_000353.3(TAT):c.*660G>C	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 320395	NM_000353.3(TAT):c.*581G>A	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 887552	NM_000353.3(TAT):c.*479T>A	TAT-AS1, TAT	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 887553	NM_000353.3(TAT):c.*409G>A	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 887554	NM_000353.3(TAT):c.*403G>T	TAT-AS1, TAT	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 320396	NM_000353.3(TAT):c.*393CT[3]	TAT, TAT-AS1	Microsatellite (3 prime UTR variant)	Hypertyrosinemia	GLikely benign
Select item 320397	NM_000353.3(TAT):c.350_352del	TAT, TAT-AS1	Deletion (3 prime UTR variant)	Hypertyrosinemia	GUncertain significance
Select item 884401	NM_000353.3(TAT):c.*253G>C	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 320398	NM_000353.3(TAT):c.*252C>G	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 320399	NM_000353.3(TAT):c.*251T>A	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 320400	NM_000353.3(TAT):c.*219G>A	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 320401	NM_000353.3(TAT):c.*208G>A	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 884402	NM_000353.3(TAT):c.*170G>A	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 884403	NM_000353.3(TAT):c.*163A>C	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 884404	NM_000353.3(TAT):c.*110C>T	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II +1 more	GBenign/Likely benign
Select item 320402	NM_000353.3(TAT):c.*81G>A	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
Select item 320403	NM_000353.3(TAT):c.*30C>A	TAT, TAT-AS1	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type II	GUncertain significance
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 553920	NM_000353.3(TAT):c.1363T>C (p.Ter455Gln)	TAT-AS1, TAT	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 3174304	NM_000353.3(TAT):c.1279A>C (p.Met427Leu)	TAT, TAT-AS1 (M427L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 +1 more	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 1246313	NM_000353.3(TAT):c.1224+143A>G	TAT, TAT-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 3240564	NM_000353.3(TAT):c.1224+1G>C	TAT, TAT-AS1	Single nucleotide variant (splice donor 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 550922	NM_000353.3(TAT):c.1224G>A (p.Thr408=)	TAT-AS1, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GUncertain significance
Select item 551483	NM_000353.3(TAT):c.1223C>T (p.Thr408Met)	TAT, TAT-AS1 (T408M)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GUncertain significance
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 978021	NM_000353.3(TAT):c.1217C>T (p.Pro406Leu)	TAT, TAT-AS1 (P406L)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GPathogenic
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-AS1, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2711453	NM_000353.3(TAT):c.1188_1191del (p.Val397fs)	TAT-AS1, TAT (V397fs)	Deletion (frameshift variant)	Tyrosinemia type II	GPathogenic
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 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-AS1, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 965652	NM_000353.3(TAT):c.1178C>T (p.Thr393Met)	TAT, TAT-AS1 (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 +2 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

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