"Counsyl"[submitter] AND "TAT-AS1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 552384	NM_000353.3(TAT):c.1125+1G>T	TAT, TAT-AS1	Single nucleotide variant (splice donor variant)	Tyrosinemia type II	GLikely pathogenic
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 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 554092	NM_000353.3(TAT):c.906_912+12del	TAT-AS1, TAT	Deletion (splice donor variant)	Tyrosinemia type II	GLikely pathogenic
Select item 550032	NM_000353.3(TAT):c.707-1G>A	TAT, TAT-AS1	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type II	GLikely pathogenic
Select item 552516	NM_000353.3(TAT):c.568-2A>G	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely pathogenic