"OMIM"[submitter] AND "CAST"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14036	NM_000439.5(PCSK1):c.1447G>A (p.Gly483Arg)	CAST, LOC101929710 +1 more (G483R +1 more)	Single nucleotide variant (missense variant)	Obesity due to prohormone convertase I deficiency	GPathogenic
Select item 1723151	NM_000439.5(PCSK1):c.1350_1353del (p.Val450_Asp451insTer)	CAST, LOC101929710 +1 more	Deletion (frameshift variant)	Obesity due to prohormone convertase I deficiency	GPathogenic
Select item 1723150	NM_000439.5(PCSK1):c.1095+1G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1723149	NM_000439.5(PCSK1):c.1095+1G>T	CAST, LOC101929710 +1 more	Single nucleotide variant (splice donor variant)	Obesity due to prohormone convertase I deficiency	GPathogenic
Select item 1710314	NM_000439.5(PCSK1):c.927C>G (p.Asn309Lys)	CAST, LOC101929710 +1 more (N262K)	Single nucleotide variant (missense variant)	Obesity due to prohormone convertase I deficiency	GPathogenic
Select item 14041	NM_000439.5(PCSK1):c.920C>T (p.Ser307Leu)	LOC101929710, PCSK1 +1 more (S307L +1 more)	Single nucleotide variant (missense variant)	Obesity due to prohormone convertase I deficiency	GPathogenic
Select item 14038	NM_000439.5(PCSK1):c.748G>T (p.Glu250Ter)	CAST, LOC101929710 +1 more (E250* +1 more)	Single nucleotide variant (nonsense)	Obesity due to prohormone convertase I deficiency	GPathogenic
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 14039	NM_000439.5(PCSK1):c.638_640del (p.Ala213del)	CAST, LOC101929710 +1 more (A213del +1 more)	Deletion (inframe_deletion)	Obesity due to prohormone convertase I deficiency	GPathogenic
Select item 14037	NM_000439.5(PCSK1):c.620+4A>C	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	Obesity due to prohormone convertase I deficiency	GPathogenic
Select item 1710315	NM_000439.5(PCSK1):c.595C>T (p.Arg199Ter)	CAST, LOC101929710 +1 more (R199* +1 more)	Single nucleotide variant (nonsense)	Obesity due to prohormone convertase I deficiency	GPathogenic
Select item 189335	NM_001750.7(CAST):c.547A>T (p.Lys183Ter)	CAST (K142* +10 more)	Single nucleotide variant (nonsense)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	GPathogenic
Select item 189334	NM_001750.7(CAST):c.730dup (p.Ile244fs)	CAST (I203fs +11 more)	Duplication (frameshift variant)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	GPathogenic
Select item 189336	NM_001750.7(CAST):c.1873del (p.Val625fs)	ERAP1, CAST (V507fs +16 more)	Deletion (3 prime UTR variant +2 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	GPathogenic