Variants from Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago

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
10	26	6	0	0	42

Gene and significance breakdown #

Total genes and gene combinations: 21

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
BBS4	2	4	0	6
ZNF142	0	4	2	6
BBS1, ZDHHC24	1	2	0	3
BBS10	0	3	0	3
BBS12	3	0	0	3
BBS7	1	2	0	3
BBS2	0	2	0	2
BBS5	1	0	1	2
NPHP1	1	0	1	2
ACSF3, ADAD2, ADAMTS16, ADAMTS18, ADCY2, AHRR, ANKRD11, APRT, ATMIN, ATP2C2, BANP, BCO1, BRD9, C16orf46, C16orf74, C16orf95, CA5A, CBFA2T3, CCDC127, CDH13, CDH15, CDK10, CDT1, CDYL2, CENPBD1, CENPN, CEP72, CFAP90, CHMP1A, CIBAR2, CLEC3A, CLPTM1L, CMC2, CMIP, COTL1, COX4I1, CPNE7, CRISPLD2, CTU2, CYBA, DBNDD1, DEF8, DNAAF1, DPEP1, DYNLRB2, EMC8, EXOC3, FANCA, FASTKD3, FBXO31, FENDRR, FOXC2, FOXF1, FOXL1, GALNS, GAN, GAS8, GCSH, GINS2, GSE1, HSBP1, HSD17B2, HSDL1, ICE1, IL17C, IRF8, IRX1, IRX2, IRX2-DT, IRX4, JPH3, KCNG4, KIAA0513, KLHDC4, KLHL36, LINC01082, LOC101927817, LOC101928417, LOC654780, LPCAT1, LRRC14B, MAF, MAP1LC3B, MBTPS1, MC1R, MEAK7, MED10, MLYCD, MON1B, MPHOSPH6, MRPL36, MTHFSD, MTRR, MVD, NDUFS6, NECAB2, NKD2, NSUN2, NUDT7, OSGIN1, PABPN1L, PDCD6, PIEZO1, PKD1L2, PLCG2, PLEKHG4B, PRDM7, RNF166, RPL13, SDHA, SDR42E1, SLC12A7, SLC22A31, SLC38A8, SLC6A18, SLC6A19, SLC6A3, SLC7A5, SLC9A3, SNAI3, SPATA2L, SPATA33, SPG7, SPIRE2, SRD5A1, SYCE1L, TAF1C, TCF25, TENT4A, TERT, TPPP, TRAPPC2L, TRIP13, TUBB3, UBE2QL1, USP10, VAT1L, VPS9D1, WFDC1, WWOX, ZC3H18, ZCCHC14, ZCCHC14-DT, ZDHHC11, ZDHHC11B, ZDHHC7, ZFPM1, ZNF276, ZNF469, ZNF778	0	1	0	1
ALMS1	0	1	0	1
ARL6	0	1	0	1
ARL6, CRYBG3, LOC129937104	0	1	0	1
BBS1	0	1	0	1
BBS1, DPP3	1	0	0	1
BBS1, DPP3, LOC130006125, ZDHHC24	0	1	0	1
BBS5, LOC129388940	0	1	0	1
IFT172	0	0	1	1
IFT74	0	1	0	1
KCNAB2, NPHP4	0	1	0	1
LOC126862183, SCAPER	0	0	1	1

Condition and significance breakdown #

Total conditions: 4

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Condition	pathogenic	likely pathogenic	uncertain significance	total
Bardet-Biedl syndrome 1	9	6	4	19
Bardet-Biedl syndrome	1	15	0	16
Neurodevelopmental disorder with impaired speech and hyperkinetic movements	0	4	2	6
not provided	0	1	0	1

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