"Clinical Genetics, Academic Medical Center"[submitter] AND "CAST"[gen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 354639	NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr)	CAST, LOC101929710 +1 more (S690T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 354640	NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu)	CAST, LOC101929710 +1 more (Q665E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
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 354642	NM_000439.5(PCSK1):c.1764G>A (p.Lys588=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	Obesity due to prohormone convertase I deficiency +2 more	GConflicting classifications of pathogenicity
Select item 354643	NM_000439.5(PCSK1):c.1650T>C (p.Asn550=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	Monogenic Non-Syndromic Obesity +2 more	GBenign/Likely benign
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 14040	NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp)	CAST, LOC101929710 +1 more (N221D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 906972	NM_000439.5(PCSK1):c.541T>C (p.Tyr181His)	CAST, LOC101929710 +1 more (Y134H +1 more)	Single nucleotide variant (missense variant)	Obesity due to prohormone convertase I deficiency +2 more	GUncertain significance
Select item 1284385	NM_000439.5(PCSK1):c.334G>A (p.Ala112Thr)	CAST, LOC101929710 +1 more (A112T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign