Related gene-specific medical variations for Gene (Select 6440) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362663	NM_001317778.2(SFTPC):c.117GGT[7] (p.Val44_Leu45insValVal)	SFTPC	Microsatellite (intron variant)	Surfactant metabolism dysfunction, pulmonary, 2	GLikely benign
Select item 3361728	NM_001317778.2(SFTPC):c.409C>G (p.Leu137Val)	SFTPC (L137V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235892	NM_001317778.2(SFTPC):c.481C>T (p.Arg161Ter)	SFTPC (R114* +2 more)	Single nucleotide variant (nonsense)	Surfactant metabolism dysfunction, pulmonary, 2	GLikely pathogenic
Select item 2435887	NM_001317778.2(SFTPC):c.455C>T (p.Thr152Met)	SFTPC (T105M +2 more)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 2	GUncertain significance
Select item 2435886	NM_001317778.2(SFTPC):c.150T>G (p.Ile50Met)	SFTPC (I50M)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 2	GUncertain significance
Select item 972679	NM_001317778.2(SFTPC):c.10G>A (p.Gly4Ser)	SFTPC (G4S)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance

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