ClinVar (all) for Orgtrack (Select 505338) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443365	NM_000492.4(CFTR):c.3434G>C (p.Trp1145Ser)	CFTR (W1145S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 2443364	NM_000492.4(CFTR):c.962del (p.Ser321fs)	CFTR (S321fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 2443363	NM_000492.4(CFTR):c.3119T>C (p.Leu1040Pro)	CFTR, LOC111674472 (L1040P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2443362	NM_000492.4(CFTR):c.719T>G (p.Leu240Arg)	CFTR (L240R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 2443361	NM_000492.4(CFTR):c.574G>T (p.Asp192Tyr)	CFTR (D192Y)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 2443360	NM_000492.4(CFTR):c.1526G>T (p.Gly509Val)	CFTR-AS1, CFTR (G509V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 1706040	NM_000492.4(CFTR):c.1209G>T (p.Glu403Asp)	CFTR (E403D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 1700565	NM_000049.4(ASPA):c.526G>A (p.Gly176Ser)	SPATA22, ASPA (G176S)	Single nucleotide variant (missense variant +1 more)	Mild Canavan disease	GPathogenic
Select item 816918	NM_000047.3(ARSL):c.898G>A (p.Val300Ile)	ARSL (V300I +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	GUncertain significance
Select item 813400	NM_000492.4(CFTR):c.253G>T (p.Gly85Ter)	CFTR (G85*)	Single nucleotide variant (nonsense)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 545641	NM_052859.4(RFT1):c.1018G>A (p.Gly340Ser)	RFT1 (G340S)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation +1 more	GUncertain significance