"Baylor Genetics"[submitter] AND "TAT-AS1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 404	NM_000353.3(TAT):c.1249C>T (p.Arg417Ter)	TAT, TAT-AS1 (R417*)	Single nucleotide variant (nonsense)	Tyrosinemia type II	GPathogenic
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 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 2679098	NM_000353.3(TAT):c.1028_1029del (p.Leu343fs)	TAT, TAT-AS1 (L343fs)	Deletion (frameshift variant)	Tyrosinemia type II	GLikely pathogenic
Select item 1425300	NM_000353.3(TAT):c.916C>T (p.Arg306Ter)	TAT, TAT-AS1 (R306*)	Single nucleotide variant (nonsense)	Tyrosinemia type II	GPathogenic/Likely pathogenic
Select item 620093	NM_000353.3(TAT):c.889C>T (p.Arg297Ter)	TAT, TAT-AS1 (R297*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240561	NM_000353.3(TAT):c.872G>A (p.Trp291Ter)	TAT, TAT-AS1 (W291*)	Single nucleotide variant (nonsense)	Tyrosinemia type II	GLikely pathogenic
Select item 1454381	NM_000353.3(TAT):c.825del (p.Cys275fs)	TAT, TAT-AS1 (C275fs)	Deletion (frameshift variant)	Tyrosinemia type II	GPathogenic/Likely pathogenic
Select item 841372	NM_000353.3(TAT):c.814del (p.Ile272fs)	TAT, TAT-AS1 (I272fs)	Deletion (frameshift variant)	Tyrosinemia type II	GPathogenic/Likely pathogenic
Select item 3240565	NM_000353.3(TAT):c.760-1G>T	TAT, TAT-AS1	Single nucleotide variant (splice acceptor 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 1474620	NM_000353.3(TAT):c.707-2A>G	TAT, TAT-AS1	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type II	GPathogenic/Likely 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 3240563	NM_000353.3(TAT):c.690del (p.Gln231fs)	LOC111413029, TAT +1 more (Q231fs)	Deletion (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely pathogenic
Select item 1029798	NM_000353.3(TAT):c.623A>T (p.Lys208Met)	LOC111413029, TAT +1 more (K208M)	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GUncertain significance
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