"Eurofins Ntd Llc (ga)"[submitter] AND "SFTPC"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 362552	NM_001317778.2(SFTPC):c.43-7G>A	SFTPC	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 13208	NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr)	SFTPC (I73T +1 more)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +2 more	GPathogenic
Select item 499400	NM_001317778.2(SFTPC):c.555G>A (p.Glu185=)	SFTPC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

Format

Sort by

Choose Destination