"GeneDx"[submitter] AND "TPK1"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 844998	NM_022445.4(TPK1):c.701C>A (p.Pro234Gln)	TPK1 (P128Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 450826	NM_022445.4(TPK1):c.667G>T (p.Gly223Trp)	TPK1 (G223W +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 512670	NM_022445.4(TPK1):c.666C>T (p.Asp222=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 419232	NM_022445.4(TPK1):c.664G>C (p.Asp222His)	TPK1 (D222H +4 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 137693	NM_022445.4(TPK1):c.663C>T (p.Tyr221=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 3365089	NM_022445.4(TPK1):c.658A>G (p.Thr220Ala)	TPK1 (T103A +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 30572	NM_022445.4(TPK1):c.656A>G (p.Asn219Ser)	TPK1 (N219S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 385166	NM_022445.4(TPK1):c.621T>C (p.Asp207=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more	GLikely benign
Select item 1048796	NM_022445.4(TPK1):c.620A>T (p.Asp207Val)	TPK1 (D101V +4 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more	GUncertain significance
Select item 419000	NM_022445.4(TPK1):c.614-13del	TPK1	Deletion (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more	GBenign/Likely benign
Select item 673696	NM_022445.4(TPK1):c.614-82C>G	TPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673728	NM_022445.4(TPK1):c.614-240A>C	TPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266085	NM_022445.4(TPK1):c.613+308G>T	TPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275621	NM_022445.4(TPK1):c.613+264T>G	TPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264432	NM_022445.4(TPK1):c.613+63_613+64insCTTTCTTGCTTG	TPK1	Insertion (intron variant)	not provided	GBenign
Select item 1279543	NM_022445.4(TPK1):c.613+40del	TPK1	Deletion (intron variant)	not provided	GBenign
Select item 1265423	NM_022445.4(TPK1):c.613+39_613+40del	TPK1	Deletion (intron variant)	not provided	GBenign
Select item 942296	NM_022445.4(TPK1):c.535G>C (p.Glu179Gln)	TPK1 (E130Q +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more	GUncertain significance
Select item 817760	NM_022445.4(TPK1):c.518dup (p.His173fs)	TPK1 (H173fs +4 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 450827	NM_022445.4(TPK1):c.510C>G (p.His170Gln)	TPK1 (H170Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1199535	NM_022445.4(TPK1):c.501+96C>T	TPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 215275	NM_022445.4(TPK1):c.501+4A>T	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more	GPathogenic
Select item 265278	NM_022445.4(TPK1):c.426G>C (p.Leu142Phe)	TPK1 (L142F +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 215272	NM_022445.4(TPK1):c.366C>T (p.Ile122=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more	GBenign/Likely benign
Select item 852659	NM_022445.4(TPK1):c.365T>C (p.Ile122Thr)	TPK1 (I122T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 389409	NM_022445.4(TPK1):c.355-4T>G	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more	GLikely benign
Select item 1214207	NM_022445.4(TPK1):c.354+103T>C	TPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208272	NM_022445.4(TPK1):c.354+48T>A	TPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673695	NM_022445.4(TPK1):c.354+45C>A	TPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 215277	NM_022445.4(TPK1):c.311del (p.Cys104fs)	TPK1 (C104fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1022000	NM_022445.4(TPK1):c.305C>G (p.Thr102Ser)	TPK1 (T102S +1 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more	GUncertain significance
Select item 1225690	NM_022445.4(TPK1):c.259-88C>T	TPK1	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GBenign
Select item 1248149	NM_022445.4(TPK1):c.258+288G>C	TPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269032	NM_022445.4(TPK1):c.258+167del	TPK1	Deletion (intron variant)	not provided	GBenign
Select item 962978	NM_022445.4(TPK1):c.246C>A (p.Tyr82Ter)	TPK1 (Y82* +1 more)	Single nucleotide variant (nonsense +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 942133	NM_022445.4(TPK1):c.239G>A (p.Arg80Lys)	TPK1 (R80K +1 more)	Single nucleotide variant (missense variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more	GUncertain significance
Select item 779574	NM_022445.4(TPK1):c.231T>A (p.Pro77=)	TPK1	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 2442780	NM_022445.4(TPK1):c.193C>T (p.Pro65Ser)	TPK1 (P60S +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 671697	NM_022445.4(TPK1):c.185+77G>A	TPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 215274	NM_022445.4(TPK1):c.185+1G>A	TPK1	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1305933	NM_022445.4(TPK1):c.169G>A (p.Glu57Lys)	TPK1 (E57K)	Single nucleotide variant (missense variant +4 more)	not provided +1 more	GUncertain significance
Select item 1254415	NM_022445.4(TPK1):c.143G>T (p.Gly48Val)	TPK1 (G48V +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 516761	NM_022445.4(TPK1):c.135C>T (p.Ala45=)	TPK1	Single nucleotide variant (synonymous variant +3 more)	not specified +1 more	GLikely benign
Select item 1190389	NM_022445.4(TPK1):c.116-49T>C	TPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220401	NM_022445.4(TPK1):c.116-224dup	TPK1	Duplication (intron variant)	not provided	GLikely benign
Select item 1290486	NM_022445.4(TPK1):c.116-208del	TPK1	Deletion (intron variant)	not provided	GBenign
Select item 1270738	NM_022445.4(TPK1):c.116-209_116-208del	TPK1	Deletion (intron variant)	not provided	GBenign
Select item 1290316	NM_022445.4(TPK1):c.115+205A>G	TPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267224	NM_022445.4(TPK1):c.115+22G>A	TPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 137694	NM_022445.4(TPK1):c.98G>A (p.Arg33His)	TPK1 (R33H)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 215276	NM_022445.4(TPK1):c.44-2A>G	TPK1	Single nucleotide variant (splice acceptor variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more	GPathogenic
Select item 1256711	NM_022445.4(TPK1):c.44-125G>C	TPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267412	NM_022445.4(TPK1):c.44-201T>C	TPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676834	NM_022445.4(TPK1):c.43+130C>T	TPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292337	NM_022445.4(TPK1):c.43+55G>T	TPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182634	NM_022445.4(TPK1):c.43+41C>T	TPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245217	NM_022445.4(TPK1):c.-16-19dup	TPK1	Duplication (intron variant)	not provided	GBenign
Select item 1290652	NM_022445.4(TPK1):c.-16-8del	TPK1	Deletion (intron variant)	not provided	GBenign
Select item 1291058	NM_022445.4(TPK1):c.-16-120dup	TPK1	Duplication (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1181866	NM_022445.4(TPK1):c.-17+111C>T	TPK1, LOC129999527	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 418522	NM_022445.4(TPK1):c.-22dup	TPK1	Duplication (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 215273	NM_022445.4(TPK1):c.-36T>C	TPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 1261764	NC_000007.14:g.144836196C>T	LOC129999528, TPK1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign

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Items: 66