"Illumina Laboratory Services, Illumina"[submitter] AND "CAST"[gene] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 907765	NM_000439.5(PCSK1):c.*2636C>T	PCSK1, CAST +1 more	Single nucleotide variant (3 prime UTR variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 907766	NM_000439.5(PCSK1):c.*2634G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 907767	NM_000439.5(PCSK1):c.*2611A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 907768	NM_000439.5(PCSK1):c.*2582A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 354609	NM_000439.5(PCSK1):c.*2288A>G	PCSK1, CAST +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 907769	NM_000439.5(PCSK1):c.*2187G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 354610	NM_000439.5(PCSK1):c.*2166C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 907770	NM_000439.5(PCSK1):c.*2115G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 354611	NM_000439.5(PCSK1):c.*2019A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 904442	NM_000439.5(PCSK1):c.*1967C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 354612	NM_000439.5(PCSK1):c.*1912G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354613	NM_000439.5(PCSK1):c.*1854T>A	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354614	NM_000439.5(PCSK1):c.*1842G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354615	NM_000439.5(PCSK1):c.*1733G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354616	NM_000439.5(PCSK1):c.*1571A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354617	NM_000439.5(PCSK1):c.*1530T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GLikely benign
Select item 354618	NM_000439.5(PCSK1):c.*1443C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354619	NM_000439.5(PCSK1):c.*1414A>C	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354620	NM_000439.5(PCSK1):c.*1401C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 906824	NM_000439.5(PCSK1):c.*1372C>G	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 354621	NM_000439.5(PCSK1):c.*1333A>T	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 906825	NM_000439.5(PCSK1):c.*1307A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 354622	NM_000439.5(PCSK1):c.*1232G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354623	NM_000439.5(PCSK1):c.*1231C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354624	NM_000439.5(PCSK1):c.*1164T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 907815	NM_000439.5(PCSK1):c.*1132C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 354625	NM_000439.5(PCSK1):c.*1097C>A	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354626	NM_000439.5(PCSK1):c.*1041T>A	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GLikely benign
Select item 907816	NM_000439.5(PCSK1):c.*974A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 354627	NM_000439.5(PCSK1):c.*905T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354628	NM_000439.5(PCSK1):c.*837G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354629	NM_000439.5(PCSK1):c.*826del	CAST, LOC101929710 +1 more	Deletion (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GLikely benign
Select item 354630	NM_000439.5(PCSK1):c.737_739dup	CAST, LOC101929710 +1 more	Duplication (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GLikely benign
Select item 354631	NM_000439.5(PCSK1):c.*597T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354632	NM_000439.5(PCSK1):c.*471C>G	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 904501	NM_000439.5(PCSK1):c.*438C>A	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 354633	NM_000439.5(PCSK1):c.*287A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354634	NM_000439.5(PCSK1):c.*265T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +2 more	GBenign/Likely benign
Select item 354635	NM_000439.5(PCSK1):c.*262del	CAST, LOC101929710 +1 more	Deletion (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 905288	NM_000439.5(PCSK1):c.*245G>T	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 905289	NM_000439.5(PCSK1):c.*170A>T	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 905290	NM_000439.5(PCSK1):c.*120C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 354636	NM_000439.5(PCSK1):c.*88G>C	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354637	NM_000439.5(PCSK1):c.2253G>A (p.Glu751=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 906890	NM_000439.5(PCSK1):c.2247G>A (p.Leu749=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 354638	NM_000439.5(PCSK1):c.2137C>T (p.Leu713Phe)	PCSK1, CAST +1 more (L713F +1 more)	Single nucleotide variant (missense variant)	Monogenic Non-Syndromic Obesity +2 more	GUncertain significance
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 906891	NM_000439.5(PCSK1):c.1982G>T (p.Gly661Val)	CAST, LOC101929710 +1 more (G661V +1 more)	Single nucleotide variant (missense variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 354641	NM_000439.5(PCSK1):c.1923G>A (p.Leu641=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	Monogenic Non-Syndromic Obesity +2 more	GConflicting classifications of pathogenicity
Select item 436278	NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala)	LOC101929710, PCSK1 +1 more (T640A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 907878	NM_000439.5(PCSK1):c.1884+13C>G	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 907879	NM_000439.5(PCSK1):c.1884+11C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 907880	NM_000439.5(PCSK1):c.1780A>G (p.Thr594Ala)	CAST, LOC101929710 +1 more (T594A +1 more)	Single nucleotide variant (missense variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 354642	NM_000439.5(PCSK1):c.1764G>A (p.Lys588=)	LOC101929710, PCSK1 +1 more	Single nucleotide variant (synonymous variant)	PCSK1-related condition +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 354644	NM_000439.5(PCSK1):c.1503C>T (p.Ile501=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	PCSK1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 354645	NM_000439.5(PCSK1):c.1414A>G (p.Asn472Asp)	PCSK1, LOC101929710 +1 more (N472D +1 more)	Single nucleotide variant (missense variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 432315	NM_000439.5(PCSK1):c.1405G>A (p.Val469Ile)	CAST, LOC101929710 +1 more (V469I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 904569	NM_000439.5(PCSK1):c.1345C>G (p.Leu449Val)	CAST, LOC101929710 +1 more (L402V +1 more)	Single nucleotide variant (missense variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 354646	NM_000439.5(PCSK1):c.1197-9C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 354647	NM_000439.5(PCSK1):c.1196+10A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354648	NM_000439.5(PCSK1):c.1179T>C (p.Ala393=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	Monogenic Non-Syndromic Obesity +2 more	GConflicting classifications of pathogenicity
Select item 904570	NM_000439.5(PCSK1):c.1146G>A (p.Ser382=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 354649	NM_000439.5(PCSK1):c.1096-10C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 712066	NM_000439.5(PCSK1):c.1071C>T (p.Ser357=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	Obesity due to prohormone convertase I deficiency +1 more	GConflicting classifications of pathogenicity
Select item 905357	NM_000439.5(PCSK1):c.1030G>A (p.Ala344Thr)	CAST, LOC101929710 +1 more (A297T +1 more)	Single nucleotide variant (missense variant)	PCSK1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 905358	NM_000439.5(PCSK1):c.993C>T (p.Ile331=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 905359	NM_000439.5(PCSK1):c.945T>C (p.Asp315=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 905360	NM_000439.5(PCSK1):c.927C>T (p.Asn309=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	PCSK1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 354650	NM_000439.5(PCSK1):c.709+11G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 906970	NM_000439.5(PCSK1):c.624C>T (p.His208=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 354651	NM_000439.5(PCSK1):c.612C>T (p.Asn204=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	Monogenic Non-Syndromic Obesity +2 more	GBenign/Likely benign
Select item 906971	NM_000439.5(PCSK1):c.559T>C (p.Tyr187His)	CAST, LOC101929710 +1 more (Y187H +1 more)	Single nucleotide variant (missense variant)	PCSK1-related condition +1 more	GUncertain significance
Select item 906972	NM_000439.5(PCSK1):c.541T>C (p.Tyr181His)	CAST, LOC101929710 +1 more (Y134H +1 more)	Single nucleotide variant (missense variant)	PCSK1-related condition +2 more	GUncertain significance
Select item 906973	NM_000439.5(PCSK1):c.524C>T (p.Thr175Met)	PCSK1, CAST +1 more (T128M +1 more)	Single nucleotide variant (missense variant)	PCSK1-related condition +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)	PCSK1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 906974	NM_000439.5(PCSK1):c.375G>A (p.Met125Ile)	CAST, LOC101929710 +1 more (M125I +1 more)	Single nucleotide variant (missense variant)	PCSK1-related condition +2 more	GUncertain significance
Select item 354653	NM_000439.5(PCSK1):c.284G>A (p.Arg95His)	CAST, LOC101929710 +1 more (R95H +1 more)	Single nucleotide variant (missense variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 907946	NM_000439.5(PCSK1):c.121G>A (p.Gly41Arg)	CAST, LOC101929710 +1 more (G41R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 354654	NM_000439.5(PCSK1):c.-21G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (5 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354655	NM_000439.5(PCSK1):c.-96C>T	LOC101929710, PCSK1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 354656	NM_000439.5(PCSK1):c.-101T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (5 prime UTR variant)	Monogenic Non-Syndromic Obesity +2 more	GBenign/Likely benign
Select item 354657	NM_000439.5(PCSK1):c.-137A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (5 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354658	NM_000439.5(PCSK1):c.-140C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (5 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 354659	NM_000439.5(PCSK1):c.-147C>G	CAST, LOC101929710 +1 more	Single nucleotide variant (5 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance

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Items: 86