6909[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 116

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 57542	GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1	APPBP2, APPBP2-DT +61 more	Copy number loss	See cases	GPathogenic
Select item 57455	GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1	APPBP2, APPBP2-DT +56 more	Copy number loss	See cases	GPathogenic
Select item 146527	GRCh38/hg38 17q23.2(chr17:60255192-62237942)x1	APPBP2, APPBP2-DT +49 more	Copy number loss	See cases	GPathogenic
Select item 152307	GRCh38/hg38 17q23.2(chr17:61331901-61424019)x3	BCAS3, LINC02875 +11 more	Copy number gain	See cases	GUncertain significance
Select item 729249	NM_005994.4(TBX2):c.9G>A (p.Glu3=)	TBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647997	NM_005994.4(TBX2):c.21G>C (p.Ala7=)	TBX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 522826	NM_005994.4(TBX2):c.59G>A (p.Arg20Gln)	TBX2 (R20Q)	Single nucleotide variant (missense variant)	TBX2-related condition +1 more	GPathogenic/Likely pathogenic
Select item 978728	NM_005994.4(TBX2):c.110T>G (p.Phe37Cys)	TBX2 (F37C)	Single nucleotide variant (missense variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GLikely pathogenic
Select item 1804777	NM_005994.4(TBX2):c.131C>A (p.Pro44Gln)	TBX2 (P44Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557459	NM_005994.4(TBX2):c.152C>A (p.Pro51Gln)	TBX2 (P51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174947	NM_005994.4(TBX2):c.164C>T (p.Pro55Leu)	TBX2 (P55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174948	NM_005994.4(TBX2):c.167G>A (p.Gly56Asp)	TBX2 (G56D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551147	NM_005994.4(TBX2):c.176G>A (p.Gly59Glu)	TBX2 (G59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055119	NM_005994.4(TBX2):c.189GGC[6] (p.Ala71_Glu72insAla)	TBX2	Microsatellite (inframe insertion)	TBX2-related condition	GLikely benign
Select item 2544779	NM_005994.4(TBX2):c.191C>T (p.Ala64Val)	TBX2 (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029110	NM_005994.4(TBX2):c.201G>T (p.Ala67=)	TBX2	Single nucleotide variant (synonymous variant)	TBX2-related condition	GLikely benign
Select item 3055220	NM_005994.4(TBX2):c.228C>A (p.His76Gln)	TBX2 (H76Q)	Single nucleotide variant (missense variant)	TBX2-related condition	GLikely benign
Select item 3046311	NM_005994.4(TBX2):c.240G>A (p.Leu80=)	TBX2	Single nucleotide variant (synonymous variant)	TBX2-related condition	GLikely benign
Select item 3174949	NM_005994.4(TBX2):c.269G>T (p.Arg90Leu)	TBX2 (R90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717066	NM_005994.4(TBX2):c.324G>C (p.Thr108=)	TBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2261015	NM_005994.4(TBX2):c.346G>A (p.Asp116Asn)	TBX2 (D116N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1225829	NM_005994.4(TBX2):c.366C>A (p.Gly122=)	TBX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2316401	NM_005994.4(TBX2):c.391G>C (p.Gly131Arg)	TBX2 (G131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412527	NM_005994.4(TBX2):c.424G>C (p.Val142Leu)	TBX2 (V142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582360	NM_005994.4(TBX2):c.431G>T (p.Gly144Val)	TBX2 (G144V)	Single nucleotide variant (missense variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GUncertain significance
Select item 734485	NM_005994.4(TBX2):c.477C>T (p.Ala159=)	TBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1708483	NM_005994.4(TBX2):c.481G>A (p.Asp161Asn)	TBX2 (D161N)	Single nucleotide variant (missense variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GUncertain significance
Select item 2443992	NM_005994.4(TBX2):c.499T>C (p.Phe167Leu)	TBX2 (F167L)	Single nucleotide variant (missense variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GLikely pathogenic
Select item 2411133	NM_005994.4(TBX2):c.554G>A (p.Arg185His)	TBX2 (R185H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552959	NM_005994.4(TBX2):c.706A>G (p.Ile236Val)	TBX2 (I236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205636	NM_005994.4(TBX2):c.745A>T (p.Thr249Ser)	TBX2 (T249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734746	NM_005994.4(TBX2):c.789C>T (p.Val263=)	TBX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3174951	NM_005994.4(TBX2):c.847A>G (p.Lys283Glu)	TBX2 (K283E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1687348	NM_005994.4(TBX2):c.887+2T>C	TBX2	Single nucleotide variant (splice donor variant)	TBX2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2292916	NM_005994.4(TBX2):c.910C>G (p.Leu304Val)	TBX2 (L304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461663	NM_005994.4(TBX2):c.913C>A (p.Arg305Ser)	TBX2 (R305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 521325	NM_005994.4(TBX2):c.914G>A (p.Arg305His)	TBX2 (R305H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368645	NM_005994.4(TBX2):c.953C>A (p.Ala318Glu)	TBX2 (A318E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490169	NM_005994.4(TBX2):c.971C>G (p.Ser324Trp)	TBX2 (S324W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775111	NM_005994.4(TBX2):c.986C>A (p.Pro329His)	TBX2 (P329H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2436988	NM_005994.4(TBX2):c.988G>T (p.Ala330Ser)	TBX2 (A330S)	Single nucleotide variant (missense variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GUncertain significance
Select item 3053587	NM_005994.4(TBX2):c.991C>T (p.Arg331Trp)	TBX2 (R331W)	Single nucleotide variant (missense variant)	TBX2-related condition	GLikely benign
Select item 736805	NM_005994.4(TBX2):c.1005C>A (p.Thr335=)	TBX2	Single nucleotide variant (synonymous variant)	TBX2-related condition +1 more	GLikely benign
Select item 758996	NM_005994.4(TBX2):c.1008C>T (p.Ser336=)	TBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1334933	NM_005994.4(TBX2):c.1051+36del	TBX2	Deletion (intron variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GBenign
Select item 1334934	NM_005994.4(TBX2):c.1051+39C>G	TBX2	Single nucleotide variant (intron variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GBenign
Select item 1334935	NM_005994.4(TBX2):c.1051+43G>A	TBX2	Single nucleotide variant (intron variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GBenign
Select item 3054556	NM_005994.4(TBX2):c.1054GAG[1] (p.Glu353del)	TBX2 (E353del)	Microsatellite (inframe deletion)	TBX2-related condition	GLikely benign
Select item 737583	NM_005994.4(TBX2):c.1056G>A (p.Glu352=)	TBX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2631595	NM_005994.4(TBX2):c.1090C>T (p.Pro364Ser)	TBX2 (P364S)	Single nucleotide variant (missense variant)	TBX2-related condition	GLikely pathogenic
Select item 2495487	NM_005994.4(TBX2):c.1120G>A (p.Ala374Thr)	TBX2 (A374T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735916	NM_005994.4(TBX2):c.1125G>A (p.Pro375=)	TBX2	Single nucleotide variant (synonymous variant)	TBX2-related condition +1 more	GBenign
Select item 1686345	NM_005994.4(TBX2):c.1160C>T (p.Pro387Leu)	TBX2 (P387L)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 732390	NM_005994.4(TBX2):c.1179C>T (p.Pro393=)	TBX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 795861	NM_005994.4(TBX2):c.1188C>T (p.Ala396=)	TBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773592	NM_005994.4(TBX2):c.1212G>A (p.Arg404=)	TBX2	Single nucleotide variant (synonymous variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction +1 more	GBenign/Likely benign
Select item 3174944	NM_005994.4(TBX2):c.1235G>A (p.Gly412Asp)	TBX2 (G412D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243686	NM_005994.4(TBX2):c.1242C>A (p.Asp414Glu)	TBX2 (D414E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336005	NM_005994.4(TBX2):c.1243G>C (p.Gly415Arg)	TBX2 (G415R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486249	NM_005994.4(TBX2):c.1247C>T (p.Pro416Leu)	TBX2 (P416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174945	NM_005994.4(TBX2):c.1262G>A (p.Ser421Asn)	TBX2 (S421N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1028465	NM_005994.4(TBX2):c.1295A>G (p.Lys432Arg)	TBX2 (K432R)	Single nucleotide variant (missense variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GUncertain significance
Select item 2338137	NM_005994.4(TBX2):c.1399G>T (p.Gly467Cys)	TBX2 (G467C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252201	NM_005994.4(TBX2):c.1475A>T (p.His492Leu)	TBX2 (H492L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742424	NM_005994.4(TBX2):c.1476C>T (p.His492=)	TBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2540842	NM_005994.4(TBX2):c.1516A>G (p.Met506Val)	TBX2 (M506V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717962	NM_005994.4(TBX2):c.1560C>T (p.Asn520=)	TBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3174946	NM_005994.4(TBX2):c.1576C>T (p.Pro526Ser)	TBX2 (P526S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740385	NM_005994.4(TBX2):c.1584C>G (p.Thr528=)	TBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053498	NM_005994.4(TBX2):c.1590G>C (p.Ala530=)	TBX2	Single nucleotide variant (synonymous variant)	TBX2-related condition	GLikely benign
Select item 1358161	NM_005994.4(TBX2):c.1606G>C (p.Gly536Arg)	TBX2 (G536R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 716229	NM_005994.4(TBX2):c.1686+5G>A	TBX2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1334936	NM_005994.4(TBX2):c.1687-22C>T	TBX2	Single nucleotide variant (intron variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GBenign
Select item 775387	NM_005994.4(TBX2):c.1712G>C (p.Gly571Ala)	TBX2 (G571A)	Single nucleotide variant (missense variant)	TBX2-related condition +1 more	GBenign
Select item 708559	NM_005994.4(TBX2):c.1773C>G (p.Pro591=)	TBX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 813650	NM_005994.4(TBX2):c.1778C>A (p.Thr593Asn)	TBX2 (T593N)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 2494296	NM_005994.4(TBX2):c.1786G>A (p.Ala596Thr)	TBX2 (A596T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746038	NM_005994.4(TBX2):c.1797C>T (p.Ala599=)	TBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714114	NM_005994.4(TBX2):c.1800C>A (p.Ala600=)	TBX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2533742	NM_005994.4(TBX2):c.1822C>G (p.Arg608Gly)	TBX2 (R608G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334937	NM_005994.4(TBX2):c.1827C>T (p.Ser609=)	TBX2	Single nucleotide variant (synonymous variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GBenign
Select item 740812	NM_005994.4(TBX2):c.1847G>A (p.Arg616Gln)	TBX2 (R616Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 731130	NM_005994.4(TBX2):c.1893G>A (p.Pro631=)	TBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2476158	NM_005994.4(TBX2):c.1930G>A (p.Glu644Lys)	TBX2 (E644K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431855	NM_005994.4(TBX2):c.1934G>A (p.Gly645Asp)	TBX2 (G645D)	Single nucleotide variant (missense variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GUncertain significance
Select item 2637606	NM_005994.4(TBX2):c.1966C>T (p.Pro656Ser)	TBX2 (P656S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509336	NM_005994.4(TBX2):c.1993C>T (p.Arg665Cys)	TBX2 (R665C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553631	NM_005994.4(TBX2):c.2029C>T (p.Pro677Ser)	TBX2 (P677S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055959	NM_005994.4(TBX2):c.2030C>T (p.Pro677Leu)	TBX2 (P677L)	Single nucleotide variant (missense variant)	TBX2-related condition	GLikely benign
Select item 2630840	NM_005994.4(TBX2):c.2047G>T (p.Glu683Ter)	TBX2 (E683*)	Single nucleotide variant (nonsense)	TBX2-related condition	GUncertain significance
Select item 1299441	NM_005994.4(TBX2):c.2051C>T (p.Ala684Val)	TBX2 (A684V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 730207	NM_005994.4(TBX2):c.2104C>A (p.Arg702=)	TBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2220813	NM_005994.4(TBX2):c.2122C>T (p.Arg708Trp)	TBX2 (R708W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302966	NM_005994.4(TBX2):c.2125G>A (p.Glu709Lys)	TBX2 (E709K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272508	NM_005994.4(TBX2):c.*218G>T	TBX2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 2685604	GRCh37/hg19 17q23.1-23.2(chr17:58111095-60355640)x1	APPBP2, BCAS3 +12 more	Copy number loss	not provided	GPathogenic
Select item 2424709	NC_000017.10:g.(?_58227396)_(59938900_?)del	APPBP2, BCAS3 +9 more	Deletion	not provided	GUncertain significance

<< First< Prev

Page of 2