"Genetic Services Laboratory, University of Chicago"[submitter] AND "L - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1337110	NM_000439.5(PCSK1):c.2129C>G (p.Pro710Arg)	CAST, LOC101929710 +1 more (P663R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436278	NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala)	CAST, LOC101929710 +1 more (T640A +1 more)	Single nucleotide variant (missense variant)	PCSK1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1337803	NM_000439.5(PCSK1):c.1550G>A (p.Arg517Gln)	CAST, LOC101929710 +1 more (R470Q +1 more)	Single nucleotide variant (missense variant)	PCSK1-related disorder +1 more	GUncertain significance
Select item 354646	NM_000439.5(PCSK1):c.1197-9C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 905360	NM_000439.5(PCSK1):c.927C>T (p.Asn309=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	Obesity due to prohormone convertase I deficiency +3 more	GConflicting classifications of pathogenicity
Select item 436279	NM_000439.5(PCSK1):c.595C>A (p.Arg199=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1336080	NM_000439.5(PCSK1):c.470C>T (p.Thr157Met)	CAST, LOC101929710 +1 more (T110M +1 more)	Single nucleotide variant (missense variant)	PCSK1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 354652	NM_000439.5(PCSK1):c.397-10T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	Obesity due to prohormone convertase I deficiency +4 more	GConflicting classifications of pathogenicity
Select item 710324	NM_000439.5(PCSK1):c.270A>G (p.Leu90=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1336021	NM_000439.5(PCSK1):c.239G>A (p.Arg80Gln)	CAST, LOC101929710 +1 more (R33Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 436280	NM_000439.5(PCSK1):c.183T>C (p.Ile61=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	PCSK1-related disorder +1 more	GLikely benign