"See cases"[Disease/phenotype] AND "Suma Genomics"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8363	NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)	RANBP2 (T585M)	Single nucleotide variant (missense variant)	See cases +2 more	GPathogenic/Likely pathogenic
Select item 16339	NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)	FGFR3 (S249C)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +17 more	GPathogenic OOncogenic
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 42394	NM_000138.5(FBN1):c.5788+5G>A	FBN1	Single nucleotide variant (intron variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +4 more	GPathogenic/Likely pathogenic
Select item 438659	NM_021939.4(FKBP10):c.831dup (p.Gly278fs)	FKBP10 (G278fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 11 +6 more	GPathogenic
Select item 2581137	NM_025129.5(FUZ):c.625_636del (p.Val209_Leu212del)	FUZ, LOC105372435 +1 more	Deletion (inframe_deletion +1 more)	See cases	GUncertain significance
Select item 2581136	NM_025129.5(FUZ):c.601G>A (p.Glu201Lys)	FUZ, LOC105372435 +1 more (E151K +2 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 391218	NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter)	ADNP (S738*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 11824	NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	MECP2 (R306C +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 11819	NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	MECP2 (R294* +3 more)	Single nucleotide variant (nonsense)	Rett syndrome	GPathogenic FDA Recognized database