ClinVar for MedGen (Select 10805) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978631	NM_000079.4(CHRNA1):c.119G>A (p.Arg40Gln)	CHRNA1 (R40Q)	Single nucleotide variant (missense variant)	Hydrops fetalis +3 more	GUncertain significance
Select item 631492	NM_001080451.2(SERPINA11):c.672C>A (p.Tyr224Ter)	SERPINA11 (Y224*)	Single nucleotide variant (nonsense)	Pericardial effusion +1 more	GLikely pathogenic
Select item 599283	NM_002317.7(LOX):c.760G>A (p.Val254Ile)	LOX, SRFBP1 (V254I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 598984	NM_001291303.3(FAT4):c.8588T>C (p.Phe2863Ser)	FAT4 (F2863S +1 more)	Single nucleotide variant (missense variant)	Hydrops fetalis +6 more	GUncertain significance
Select item 514535	NM_001291303.3(FAT4):c.11693C>T (p.Ala3898Val)	FAT4 (A3896V +1 more)	Single nucleotide variant (missense variant)	Right ventricular hypertrophy +8 more	GBenign/Likely benign
Select item 374002	NM_001243133.2(NLRP3):c.1799A>G (p.Gln600Arg)	NLRP3 (Q602R +1 more)	Single nucleotide variant (missense variant)	Pericardial effusion +2 more	GLikely pathogenic
Select item 300250	NM_000417.3(IL2RA):c.757G>A (p.Val253Ile)	IL2RA (V253I +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency +2 more	GUncertain significance
Select item 183349	NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter)	BLTP1 (Y519*)	Single nucleotide variant (nonsense)	Alkuraya-Kucinskas syndrome +6 more	GPathogenic/Likely pathogenic