Variants studied for hydrops fetalis

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	other	total
28	30	26	1	1	3	88

Gene and significance breakdown #

Total genes and gene combinations: 55

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	other	total
PIEZO1	0	2	6	0	0	0	8
GUSB	0	4	0	0	0	0	4
EHBP1L1	0	1	2	0	0	0	3
HBA2, LOC106804612	1	0	0	0	0	3	3
HRAS, LRRC56	3	0	0	0	0	0	3
PTPN11	3	0	0	0	0	0	3
SLC26A3	3	0	0	0	0	0	3
CHRNA1	0	1	1	0	0	0	2
DHCR24	2	0	0	0	0	0	2
FAT4	0	0	1	1	0	0	2
FOXP3	1	1	0	0	0	0	2
HSALR1, PIEZO1	0	2	0	0	0	0	2
KIF19	2	0	0	0	0	0	2
NEU1	2	0	0	0	0	0	2
RAPSN	2	0	0	0	0	0	2
RIT1	2	0	0	0	0	0	2
ROCK2	0	0	2	0	0	0	2
RYR1	1	1	0	0	0	0	2
SLC30A5	0	2	0	0	0	0	2
THSD1	0	2	0	0	0	0	2
ACTA1	1	0	0	0	0	0	1
ANKS3	0	0	1	0	0	0	1
ARID1A	1	0	0	0	0	0	1
C1orf105, PIGC	0	1	0	0	0	0	1
CCNH, RASA1	0	0	1	0	0	0	1
CTSA	0	1	0	0	0	0	1
DNAH14	0	0	0	0	1	0	1
DNAH9, LOC126862505	1	0	0	0	0	0	1
FCRL4, LOC126805881	0	0	1	0	0	0	1
FEN1	0	0	1	0	0	0	1
FLVCR2	0	0	1	0	0	0	1
FOXC2	0	1	0	0	0	0	1
FZD6	0	1	0	0	0	0	1
GALNT14	0	1	0	0	0	0	1
GUSB, LOC126860055	0	1	0	0	0	0	1
JAK3	0	0	1	0	0	0	1
KRAS	0	1	0	0	0	0	1
L1CAM	1	0	0	0	0	0	1
LOC100289580, PIEZO1	0	1	0	0	0	0	1
LZTR1	0	0	1	0	0	0	1
MOCS3	0	0	1	0	0	0	1
MYBPHL	0	0	1	0	0	0	1
MYO18A	0	0	1	0	0	0	1
MYOM1	0	1	0	0	0	0	1
MYRF	0	1	0	0	0	0	1
NEB	0	1	0	0	0	0	1
NSD1	1	0	0	0	0	0	1
PRPF19	0	0	1	0	0	0	1
RYR3	1	0	0	0	0	0	1
SERPINA11	0	0	1	0	0	0	1
SHOC2	0	1	0	0	0	0	1
SUZ12	0	1	0	0	0	0	1
SVOPL	0	0	1	0	0	0	1
UBN1	0	1	0	0	0	0	1
VPS13D	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	other	total
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	2	15	11	0	1	0	29
Genomic Medicine Lab, University of California San Francisco	15	8	4	0	0	0	27
Center for Reproductive Medicine, Peking University Third Hospital	7	4	6	0	0	0	17
OMIM	0	0	0	0	0	3	3
Center for Personalized Medicine, Children's Hospital Los Angeles	0	0	2	1	0	0	3
Genomic Medicine Lab, University of Southampton	2	0	0	0	0	0	2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	1	0	1	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	2	0	0	0	0	2
Genetics - Synnovis, NHS South East Genomic Laboratory Hub	1	0	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
Breakthrough Genomics, Breakthrough Genomics	0	0	1	0	0	0	1

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