ClinVar for MedGen (Select 11850) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571628	NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)	PTK2 (R124* +34 more)	Single nucleotide variant (nonsense +1 more)	Autism +10 more	GUncertain significance
Select item 917488	NM_181336.4(LEMD2):c.1436C>T (p.Ser479Phe)	LEMD2 (S177F +2 more)	Single nucleotide variant (missense variant)	Reduced bone mineral density +18 more	GLikely pathogenic
Select item 827676	NM_006554.5(MTX2):c.295_296del (p.Ser98_Leu99insTer)	MTX2	Microsatellite (nonsense)	Mandibuloacral dysplasia progeroid syndrome +10 more	GPathogenic
Select item 684727	NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)	CTSK (W302*)	Single nucleotide variant (nonsense)	Pyknodysostosis +1 more	GPathogenic
Select item 627534	NM_004423.4(DVL3):c.367G>A (p.Gly123Arg)	DVL3 (G123R)	Single nucleotide variant (missense variant)	Tented upper lip vermilion +10 more	GLikely pathogenic
Select item 374081	NM_000138.5(FBN1):c.8016T>G (p.Cys2672Trp)	FBN1 (C2672W)	Single nucleotide variant (missense variant)	Ectopia lentis +6 more	GLikely pathogenic
Select item 200029	NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)	FBN1 (G47S)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GConflicting classifications of pathogenicity

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