ClinVar for MedGen (Select 107816) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 773619	NM_005243.4(EWSR1):c.582-9C>G	EWSR1	Single nucleotide variant (intron variant)	Ewing sarcoma +1 more	GBenign
Select item 690369	t(21;22)(q21;q12)	ERG, EWSR1	Translocation	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 690368	NM_001042492.3(NF1):c.7186A>T (p.Lys2396Ter)	NF1 (K2375* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 472695	NM_004656.4(BAP1):c.256-3C>A	BAP1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 185082	NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)	NF1 (Y2264* +1 more)	Single nucleotide variant (nonsense)	NF1-related condition +7 more	GPathogenic
Select item 127520	NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)	CDK4, TSPAN31 (S259L)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +4 more	GConflicting classifications of pathogenicity

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