ClinVar for MedGen (Select 266298) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1065336	NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr)	GLI2 (H1137Y +2 more)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 997068	GRCh37/hg19 15q13.2-13.3(chr15:30943903-32510863)	CHRNA7, FAN1 +5 more	Copy number gain	Facial asymmetry	GPathogenic
Select item 978558	NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala)	FBN2 (T2555A)	Single nucleotide variant (missense variant)	Global developmental delay +6 more	GUncertain significance
Select item 978557	NM_000089.4(COL1A2):c.280-7T>C	COL1A2	Single nucleotide variant (intron variant)	Global developmental delay +9 more	GConflicting classifications of pathogenicity
Select item 599235	NM_001458.5(FLNC):c.7562-15_7637delinsGAGG	FLNC, FLNC-AS1	Indel (splice acceptor variant)	Episodic vomiting +6 more	GPathogenic
Select item 523309	GRCh37/hg19 Xq13.1(chrX:68058460-68059931)	EFNB1	Copy number loss	Facial asymmetry +2 more	GPathogenic
Select item 374062	NM_006218.4(PIK3CA):c.1059+12T>A	PIK3CA	Single nucleotide variant (intron variant)	Facial asymmetry +3 more	GConflicting classifications of pathogenicity
Select item 374051	NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile)	SMARCA4 (T453I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +6 more	GConflicting classifications of pathogenicity
Select item 268030	46;XY;t(10;17)(p13;q23)dn		Translocation	Isolated Pierre-Robin syndrome +13 more	GUncertain significance
Select item 268024	46;XY;t(2;19)(q12;p13.2)dn		Translocation	Motor delay +8 more	GUncertain significance
Select item 267936	46;XY;t(12;14)(q15;q13)mat		Translocation	Aphasia +14 more	GUncertain significance
Select item 267887	46;XY;t(1;2)(p34.2;q35)dn		Translocation	Delayed speech and language development +9 more	GPathogenic
Select item 267862	46;XY;t(1;3)(p22;q21)dn		Translocation	Corpus callosum, agenesis of +24 more	GUncertain significance
Select item 267834	46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn		Translocation	Specific learning disability +18 more	GLikely pathogenic
Select item 16340	NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	FGFR3 (P250R)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +26 more	GPathogenic/Likely pathogenic
Select item 13271	NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)	FGFR2 (S347C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +25 more	GPathogenic/Likely pathogenic