Variants studied for Rubinstein-Taybi syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
111	16	302	552	229	1	1210

Gene and significance breakdown #

Total genes and gene combinations: 11

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CREBBP	101	16	293	548	225	1	1183
CREBBP, LOC130058357	2	0	4	3	1	0	10
CREBBP, LOC130058353	1	0	1	1	3	0	6
ADCY9, CREBBP, GLIS2, SRL, TFAP4	1	0	1	0	0	0	2
CREBBP, TRAP1	2	0	0	0	0	0	2
EP300	0	0	2	0	0	0	2
ADCY9, ALG1, ANKS3, C16orf89, C16orf90, C16orf96, CDIP1, CLUAP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, DNAJA3, DNASE1, EEF2KMT, GLIS2, GLYR1, HMOX2, MEFV, MGRN1, MTRNR2L4, NAA60, NAGPA, NLRC3, NMRAL1, NUDT16L1, OR2C1, PAM16, PPL, ROGDI, SEC14L5, SEPTIN12, SLX4, SMIM22, SRL, TFAP4, TIGD7, TRAP1, UBALD1, UBN1, VASN, ZNF174, ZNF263, ZNF500, ZNF597, ZNF75A, ZSCAN32	0	0	1	0	0	0	1
ADCY9, ANKS3, C16orf96, CDIP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, DNAJA3, GLIS2, HMOX2, LINC01569, LINC02861, LOC105371062, LOC112441450, LOC113939951, LOC121530613, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC129390755, LOC129390756, LOC130058353, LOC130058354, LOC130058355, LOC130058356, LOC130058357, LOC130058358, LOC130058359, LOC130058360, LOC130058361, LOC130058362, LOC130058363, LOC130058364, LOC130058365, LOC130058366, LOC130058367, LOC130058368, LOC130058369, LOC130058370, LOC130058371, LOC130058372, LOC130058373, LOC130058374, LOC130058375, LOC130058376, LOC130058377, LOC130058378, MGRN1, MIR6769A, NMRAL1, NUDT16L1, PAM16, ROGDI, SEPTIN12, SMIM22, SRL, TFAP4, UBALD1, VASN, ZNF500	1	0	0	0	0	0	1
C16orf90, CLUAP1, CREBBP, DNASE1, MEFV, MTRNR2L4, NAA60, NLRC3, OR2C1, SLX4, TIGD7, TRAP1, ZNF174, ZNF263, ZNF597, ZNF75A, ZSCAN32	1	0	0	0	0	0	1
CREBBP, LOC130058353, LOC130058354, LOC130058355	1	0	0	0	0	0	1
EP300, LOC126863158	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	109	16	300	552	229	0	1206
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Illumina Laboratory Services, Illumina	0	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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