Variants from ClinGen RASopathy Variant Curation Expert Panel

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
74	22	31	60	128	315

Gene and significance breakdown #

Total genes and gene combinations: 15

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SOS1	10	5	7	16	25	63
MAP2K2	4	2	8	8	25	47
BRAF	19	5	1	4	14	43
RAF1	9	2	4	9	17	41
PTPN11	13	3	3	6	13	38
MAP2K1	7	3	0	2	9	21
HRAS, LRRC56	4	1	3	2	10	20
SHOC2	1	0	3	6	7	17
KRAS	7	1	1	3	2	14
MAP2K1, SNAPC5	0	0	0	2	2	4
BRAF, LOC126860202	0	0	1	0	1	2
LOC129933535, SOS1	0	0	0	1	1	2
KRAS, LOC130007561	0	0	0	0	1	1
LOC130063193, MAP2K2	0	0	0	1	0	1
MKRN2, RAF1	0	0	0	0	1	1

Condition and significance breakdown #

Total conditions: 7

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
RASopathy	25	10	26	59	126	246
Noonan syndrome	23	1	0	0	0	24
Noonan syndrome and Noonan-related syndrome	7	7	3	1	2	20
Cardio-facio-cutaneous syndrome	13	3	0	0	0	16
Costello syndrome	3	1	2	0	0	6
Noonan syndrome with multiple lentigines	2	0	0	0	0	2
Noonan syndrome-like disorder with loose anagen hair 1	1	0	0	0	0	1

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