ClinVar for MedGen (Select 351278) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523360	NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp)	ABCC8 (G342W +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +13 more	GConflicting classifications of pathogenicity
Select item 523284	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	CLDN3, CLDN4 +23 more	Copy number loss	Decreased body weight +14 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 268042	46;XY;t(18;20)(q21.1;p11.23)dn		Translocation	Chin with horizontal crease +26 more	GUncertain significance
Select item 267869	46;XX;t(6;13)(q21;q32)dn		Translocation	Anteverted nares +9 more	GLikely pathogenic
Select item 228536	NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His)	COL11A2 (R1520H +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity

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