"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SNAPC5"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44586	NM_002755.4(MAP2K1):c.1068+12_1068+15del	MAP2K1, SNAPC5	Microsatellite (3 prime UTR variant +2 more)	RASopathy	GBenign FDA Recognized database
Select item 40762	NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GBenign FDA Recognized database
Select item 372567	NM_002755.4(MAP2K1):c.1172C>T (p.Ala391Val)	MAP2K1, SNAPC5 (A391V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2645472	NM_002755.4(MAP2K1):c.*63C>T	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 316849	NM_002755.4(MAP2K1):c.*917dup	MAP2K1, SNAPC5	Duplication (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic

ClinVar