2998[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	LOC130007138, LOC130007139 +1259 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	LOC110120956, LOC110121389 +1259 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	KRAS, LAG3 +1259 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	TNFRSF1A, TPI1 +1010 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007152, LOC130007153 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861418, LOC126861419 +4838 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861412, LOC126861413 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	A2M, A2M-AS1 +1243 more	Copy number gain	See cases	GPathogenic
Select item 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	KCNJ8-AS1, LDHB +102 more	Copy number loss	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	C2CD5, CMAS +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +180 more	Copy number loss	See cases	GPathogenic
Select item 307976	NM_021957.4(GYS2):c.*735TAAA[1]	GYS2	Microsatellite (3 prime UTR variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 307977	NM_021957.4(GYS2):c.*684C>T	GYS2	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 883250	NM_021957.4(GYS2):c.*654G>A	GYS2	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 307978	NM_021957.4(GYS2):c.*631del	GYS2	Deletion (3 prime UTR variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 307979	NM_021957.4(GYS2):c.*567del	GYS2	Deletion (3 prime UTR variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 883251	NM_021957.4(GYS2):c.*545G>A	GYS2	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 307980	NM_021957.4(GYS2):c.*520A>G	GYS2	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 884057	NM_021957.4(GYS2):c.*468T>C	GYS2	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 884058	NM_021957.4(GYS2):c.*458A>T	GYS2	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 307981	NM_021957.4(GYS2):c.*437dup	GYS2	Duplication (3 prime UTR variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 884059	NM_021957.4(GYS2):c.*408A>G	GYS2	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 884060	NM_021957.4(GYS2):c.*406T>G	GYS2	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 307982	NM_021957.4(GYS2):c.*359C>T	GYS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 884061	NM_021957.4(GYS2):c.*290G>T	GYS2	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GBenign
Select item 307983	NM_021957.4(GYS2):c.*259T>A	GYS2	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 307984	NM_021957.4(GYS2):c.*237T>C	GYS2	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 307985	NM_021957.4(GYS2):c.*152C>T	GYS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 261460	NM_021957.4(GYS2):c.*6A>T	GYS2	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 558809	NM_021957.4(GYS2):c.2100A>G (p.Glu700=)	GYS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 798247	NM_021957.4(GYS2):c.2072C>T (p.Pro691Leu)	GYS2 (P691L)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 2986212	NM_021957.4(GYS2):c.2068G>A (p.Val690Ile)	GYS2 (V690I)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 720229	NM_021957.4(GYS2):c.2068G>T (p.Val690Phe)	GYS2 (V690F)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 137530	NM_021957.4(GYS2):c.2067C>T (p.His689=)	GYS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3103385	NM_021957.4(GYS2):c.2060T>A (p.Leu687Gln)	GYS2 (L687Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 307986	NM_021957.4(GYS2):c.2055T>C (p.Phe685=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 137529	NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser)	GYS2 (F685S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1935105	NM_021957.4(GYS2):c.2033G>T (p.Arg678Leu)	GYS2 (R678L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3103384	NM_021957.4(GYS2):c.2023G>A (p.Glu675Lys)	GYS2 (E675K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 516107	NM_021957.4(GYS2):c.2007T>C (p.Asp669=)	GYS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 214526	NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn)	GYS2 (D669N)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GBenign
Select item 307987	NM_021957.4(GYS2):c.2004C>T (p.Tyr668=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 3283215	NM_021957.4(GYS2):c.1987G>A (p.Val663Met)	GYS2 (V663M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 631679	NM_021957.4(GYS2):c.1974dup (p.Val659fs)	GYS2 (V659fs)	Duplication (frameshift variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 3523515	NM_021957.4(GYS2):c.1973A>T (p.Asp658Val)	GYS2 (D658V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 137528	NM_021957.4(GYS2):c.1965G>C (p.Gln655His)	GYS2 (Q655H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1468008	NM_021957.4(GYS2):c.1924G>A (p.Val642Ile)	GYS2 (V642I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3387863	NM_021957.4(GYS2):c.1911C>T (p.Pro637=)	GYS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 658693	NM_021957.4(GYS2):c.1906T>C (p.Tyr636His)	GYS2 (Y636H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 386916	NM_021957.4(GYS2):c.1899A>G (p.Gly633=)	GYS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1288794	NM_021957.4(GYS2):c.1890+234G>A	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287012	NM_021957.4(GYS2):c.1890+179G>T	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261469	NM_021957.4(GYS2):c.1890+25del	GYS2	Deletion (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GBenign/Likely benign
Select item 307988	NM_021957.4(GYS2):c.1890+12A>G	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 719047	NM_021957.4(GYS2):c.1889C>T (p.Thr630Met)	GYS2 (T630M)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GBenign/Likely benign
Select item 766741	NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu)	GYS2 (S627L)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 137527	NM_021957.4(GYS2):c.1872A>G (p.Glu624=)	GYS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1127586	NM_021957.4(GYS2):c.1866T>C (p.His622=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 936980	NM_021957.4(GYS2):c.1829A>G (p.His610Arg)	GYS2 (H610R)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 307989	NM_021957.4(GYS2):c.1820A>G (p.His607Arg)	GYS2 (H607R)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 882160	NM_021957.4(GYS2):c.1810-3T>C	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 1240574	NM_021957.4(GYS2):c.1809+101T>A	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271675	NM_021957.4(GYS2):c.1809+100A>T	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3052602	NM_021957.4(GYS2):c.1809+4_1809+13del	GYS2	Deletion (splice donor variant)	GYS2-related disorder	GUncertain significance
Select item 379079	NM_021957.4(GYS2):c.1791T>C (p.Asp597=)	GYS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 307990	NM_021957.4(GYS2):c.1790A>G (p.Asp597Gly)	GYS2 (D597G)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 214535	NM_021957.4(GYS2):c.1789G>A (p.Asp597Asn)	GYS2 (D597N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 653240	NM_021957.4(GYS2):c.1774C>G (p.Leu592Val)	GYS2 (L592V)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GUncertain significance
Select item 731239	NM_021957.4(GYS2):c.1767T>C (p.Thr589=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GBenign/Likely benign
Select item 3523520	NM_021957.4(GYS2):c.1761C>G (p.Asn587Lys)	GYS2 (N587K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440667	NM_021957.4(GYS2):c.1753C>T (p.Gln585Ter)	GYS2 (Q585*)	Single nucleotide variant (nonsense)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely pathogenic
Select item 746429	NM_021957.4(GYS2):c.1746G>A (p.Arg582=)	GYS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 534624	NM_021957.4(GYS2):c.1745G>A (p.Arg582Lys)	GYS2 (R582K)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GUncertain significance
Select item 2725889	NM_021957.4(GYS2):c.1739G>A (p.Arg580His)	GYS2 (R580H)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 3383216	NM_021957.4(GYS2):c.1738C>T (p.Arg580Cys)	GYS2 (R580C)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 2383278	NM_021957.4(GYS2):c.1735C>T (p.Arg579Cys)	GYS2 (R579C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 390072	NM_021957.4(GYS2):c.1716T>C (p.Tyr572=)	GYS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 307991	NM_021957.4(GYS2):c.1713C>T (p.Leu571=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 384249	NM_021957.4(GYS2):c.1710T>C (p.Phe570=)	GYS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2393191	NM_021957.4(GYS2):c.1709T>C (p.Phe570Ser)	GYS2 (F570S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065822	NM_021957.4(GYS2):c.1701_1704del (p.Thr568fs)	GYS2 (T568fs)	Deletion (frameshift variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely pathogenic
Select item 261468	NM_021957.4(GYS2):c.1701G>A (p.Leu567=)	GYS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3523513	NM_021957.4(GYS2):c.1690T>C (p.Cys564Arg)	GYS2 (C564R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 648650	NM_021957.4(GYS2):c.1672C>T (p.Arg558Cys)	GYS2 (R558C)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GUncertain significance
Select item 2315659	NM_021957.4(GYS2):c.1667G>A (p.Arg556Gln)	GYS2 (R556Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 214525	NM_021957.4(GYS2):c.1657G>A (p.Val553Ile)	GYS2 (V553I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1300368	NM_021957.4(GYS2):c.1646-130del	GYS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1321683	NM_021957.4(GYS2):c.1646-146A>G	GYS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512561	NM_021957.4(GYS2):c.1645+7G>T	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GLikely benign
Select item 513242	NM_021957.4(GYS2):c.1644C>T (p.Tyr548=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 969451	NM_021957.4(GYS2):c.1638T>A (p.Thr546=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 137526	NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala)	GYS2 (T546A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 3523519	NM_021957.4(GYS2):c.1624G>A (p.Val542Met)	GYS2 (V542M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1491439	NM_021957.4(GYS2):c.1623C>A (p.His541Gln)	GYS2 (H541Q)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 2634940	NM_021957.4(GYS2):c.1557_1579del (p.Thr520fs)	GYS2 (T520fs)	Deletion (frameshift variant)	GYS2-related disorder	GLikely pathogenic
Select item 2234240	NM_021957.4(GYS2):c.1577G>T (p.Ser526Ile)	GYS2 (S526I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 387912	NM_021957.4(GYS2):c.1554A>G (p.Glu518=)	GYS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 214533	NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala)	GYS2 (E518A)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1542129	NM_021957.4(GYS2):c.1550-12T>C	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 1179255	NM_021957.4(GYS2):c.1550-59T>C	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign

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