ClinVar for MedGen (Select 869253) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 995982	NM_002941.4(ROBO1):c.1985del (p.Gln662fs)	ROBO1 (Q626fs +1 more)	Deletion (frameshift variant)	Increased nuchal translucency	GLikely pathogenic
Select item 185963	NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)	NF1	Deletion (frameshift variant)	not provided +6 more	GPathogenic
Select item 40469	NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)	NRAS (G12R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic

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