ClinVar for MedGen (Select 326907) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1804031	NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)	PSMC3 (R304W)	Single nucleotide variant (missense variant)	Microretrognathia +11 more	GPathogenic
Select item 523250	GRCh37/hg19 15q13.2-13.3(chr15:30366065-32899558)	ARHGAP11B, CHRFAM7A +11 more	Copy number gain	Short attention span +12 more	GPathogenic
Select item 374171	NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)	NIPBL	Deletion (nonsense)	Cornelia de Lange syndrome 1 +9 more	GLikely pathogenic
Select item 268030	46;XY;t(10;17)(p13;q23)dn		Translocation	Cleft soft palate +13 more	GUncertain significance
Select item 267905	46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dn		Translocation	Posteriorly placed tongue +17 more	GLikely pathogenic
Select item 163878	NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	LMNA (R545H +2 more)	Single nucleotide variant (missense variant +1 more)	LMNA-related condition +23 more	GConflicting classifications of pathogenicity

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