Variants studied for Ehlers-Danlos syndrome, spondylodysplastic type, 2

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	total
20	6	152	103	8	282

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
B3GALT6	20	6	148	103	8	278
ACAP3, ACTRT2, AGRN, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73	0	0	1	0	0	1
ACAP3, AGRN, B3GALT6, C1QTNF12, C1orf159, CPTP, DVL1, INTS11, ISG15, MIR200A, MIR200B, MIR429, PUSL1, RNF223, SCNN1D, SDF4, TAS1R3, TNFRSF18, TNFRSF4, TTLL10, UBE2J2	0	0	1	0	0	1
ACAP3, AGRN, B3GALT6, C1QTNF12, C1orf159, INTS11, ISG15, MIR200A, MIR200B, MIR429, PUSL1, RNF223, SCNN1D, SDF4, TNFRSF18, TNFRSF4, TTLL10, UBE2J2	0	0	1	0	0	1
B3GALT6, SDF4, TNFRSF4	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	10	3	147	103	8	271
OMIM	7	0	0	0	0	7
Fulgent Genetics, Fulgent Genetics	0	1	3	0	0	4
Baylor Genetics	0	0	3	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	1	0	0	2
Daryl Scott Lab, Baylor College of Medicine	0	0	2	0	0	2
Division of Biology and Genetics, University of Brescia	2	0	0	0	0	2
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	1
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong	1	0	0	0	0	1
3billion, Medical Genetics	0	0	1	0	0	1

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