27010[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
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 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	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 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 149558	GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4	ACTR3C, ARHGEF35 +172 more	Copy number gain	See cases	GLikely pathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 2130461	NM_022445.4(TPK1):c.715A>G (p.Met239Val)	TPK1 (M234V +4 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1431112	NM_022445.4(TPK1):c.706C>G (p.Leu236Val)	TPK1 (L231V +4 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1010608	NM_022445.4(TPK1):c.704T>C (p.Leu235Pro)	TPK1 (L118P +4 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
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 838985	NM_022445.4(TPK1):c.700C>T (p.Pro234Ser)	TPK1 (P117S +4 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 855208	NM_022445.4(TPK1):c.687G>A (p.Val229=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 472874	NM_022445.4(TPK1):c.677T>A (p.Val226Asp)	TPK1 (V226D +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1427844	NM_022445.4(TPK1):c.676G>A (p.Val226Ile)	TPK1 (V109I +4 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 731524	NM_022445.4(TPK1):c.672T>C (p.Ser224=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1117856	NM_022445.4(TPK1):c.669G>C (p.Gly223=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1080578	NM_022445.4(TPK1):c.669G>A (p.Gly223=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1011909	NM_022445.4(TPK1):c.662ACG[3] (p.Asp222dup)	TPK1	Microsatellite (inframe_insertion +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1000048	NM_022445.4(TPK1):c.667G>A (p.Gly223Arg)	TPK1 (G106R +4 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	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 657167	NM_022445.4(TPK1):c.664G>A (p.Asp222Asn)	TPK1 (D217N +4 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
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 1026471	NM_022445.4(TPK1):c.662A>G (p.Tyr221Cys)	TPK1 (Y104C +4 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
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 2096623	NM_022445.4(TPK1):c.657T>C (p.Asn219=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
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 3181543	NM_022445.4(TPK1):c.647G>A (p.Ser216Asn)	TPK1 (S216N +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2839611	NM_022445.4(TPK1):c.645C>T (p.Val215=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 767344	NM_022445.4(TPK1):c.642G>A (p.Leu214=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1158023	NM_022445.4(TPK1):c.639A>G (p.Thr213=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2032488	NM_022445.4(TPK1):c.624G>C (p.Val208=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 744978	NM_022445.4(TPK1):c.624G>A (p.Val208=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
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 1953747	NM_022445.4(TPK1):c.614C>T (p.Thr205Ile)	TPK1 (T88I +4 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 438735	NM_022445.4(TPK1):c.614-1G>A	TPK1	Single nucleotide variant (splice acceptor variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GPathogenic
Select item 1927804	NM_022445.4(TPK1):c.614-11T>C	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
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 2891608	NM_022445.4(TPK1):c.614-15C>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1569025	NM_022445.4(TPK1):c.614-18T>C	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1528963	NM_022445.4(TPK1):c.614-19T>C	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely 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 3045548	NM_022445.4(TPK1):c.613+17432G>A	TPK1	Single nucleotide variant (intron variant)	TPK1-related disorder	GLikely benign
Select item 3033734	NM_022445.4(TPK1):c.613+17424C>T	TPK1 (A239V)	Single nucleotide variant (missense variant +2 more)	TPK1-related disorder	GBenign
Select item 3041959	NM_022445.4(TPK1):c.613+17398T>A	TPK1	Single nucleotide variant (synonymous variant +2 more)	TPK1-related disorder	GLikely benign
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 640613	NM_022445.4(TPK1):c.613+1G>C	TPK1	Single nucleotide variant (splice donor variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GPathogenic
Select item 2437196	NM_022445.4(TPK1):c.593C>T (p.Thr198Ile)	TPK1 (T149I +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 488625	NM_022445.4(TPK1):c.576T>G (p.Cys192Trp)	TPK1 (C192W +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely pathogenic
Select item 2159996	NM_022445.4(TPK1):c.575G>A (p.Cys192Tyr)	TPK1 (C143Y +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 835726	NM_022445.4(TPK1):c.566G>A (p.Gly189Glu)	TPK1 (G83E +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2857481	NM_022445.4(TPK1):c.565G>T (p.Gly189Ter)	TPK1 (G184* +4 more)	Single nucleotide variant (nonsense +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GPathogenic
Select item 2759515	NM_022445.4(TPK1):c.564T>C (p.Val188=)	TPK1	Single nucleotide variant (synonymous variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2011013	NM_022445.4(TPK1):c.562G>T (p.Val188Phe)	TPK1 (V139F +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1461823	NM_022445.4(TPK1):c.562G>C (p.Val188Leu)	TPK1 (V188L +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 571887	NM_022445.4(TPK1):c.559C>T (p.Pro187Ser)	TPK1 (P187S +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1097560	NM_022445.4(TPK1):c.555T>C (p.Leu185=)	TPK1	Single nucleotide variant (synonymous variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2805590	NM_022445.4(TPK1):c.552C>G (p.Gly184=)	TPK1	Single nucleotide variant (synonymous variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1064004	NM_022445.4(TPK1):c.546G>C (p.Trp182Cys)	TPK1 (W133C +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2058695	NM_022445.4(TPK1):c.538G>A (p.Gly180Ser)	TPK1 (G175S +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
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 855064	NM_022445.4(TPK1):c.532A>T (p.Met178Leu)	TPK1 (M173L +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 657534	NM_022445.4(TPK1):c.530G>T (p.Gly177Val)	TPK1 (G71V +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 749864	NM_022445.4(TPK1):c.528T>C (p.Thr176=)	TPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1513037	NM_022445.4(TPK1):c.518A>C (p.His173Pro)	TPK1 (H124P +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1035404	NM_022445.4(TPK1):c.512G>C (p.Arg171Thr)	TPK1 (R54T +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
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 2811562	NM_022445.4(TPK1):c.507G>A (p.Lys169=)	TPK1	Single nucleotide variant (synonymous variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1521921	NM_022445.4(TPK1):c.502-3C>T	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1578759	NM_022445.4(TPK1):c.502-9C>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1199535	NM_022445.4(TPK1):c.501+96C>T	TPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 650708	NC_000007.14:g.(?_144591403)_(144591589_?)del	TPK1	Deletion	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely pathogenic
Select item 2786390	NM_022445.4(TPK1):c.501+16A>C	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1669434	NM_022445.4(TPK1):c.501+14G>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2863834	NM_022445.4(TPK1):c.501+12G>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign

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