CAST[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +435 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	ADGRV1, ARB2A +276 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +274 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +146 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	ADAMTS19, ADAMTS19-AS1 +688 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	EPB41L4A-AS1, EPB41L4A-DT +495 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +342 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +119 more	Copy number gain	See cases	GUncertain significance
Select item 2536623	NM_012081.6(ELL2):c.98A>G (p.Lys33Arg)	CAST, ELL2 +1 more (K33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1399925	NM_000439.5(PCSK1):c.2257A>C (p.Asn753His)	PCSK1, CAST +1 more (N706H +1 more)	Single nucleotide variant (missense variant)	not provided +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 2082575	NM_000439.5(PCSK1):c.2236G>A (p.Val746Met)	CAST, LOC101929710 +1 more (V699M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3033136	NM_000439.5(PCSK1):c.2214C>T (p.Asp738=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related condition	GLikely benign
Select item 2228263	NM_000439.5(PCSK1):c.2179G>A (p.Val727Ile)	CAST, LOC101929710 +1 more (V680I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057093	NM_000439.5(PCSK1):c.2162A>G (p.Tyr721Cys)	CAST, LOC101929710 +1 more (Y674C +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 731961	NM_000439.5(PCSK1):c.2145C>T (p.Asp715=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3056242	NM_000439.5(PCSK1):c.2076G>A (p.Lys692=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related condition	GLikely benign
Select item 3045997	NM_000439.5(PCSK1):c.2076G>C (p.Lys692Asn)	CAST, LOC101929710 +1 more (K645N +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GLikely benign
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 1319422	NM_000439.5(PCSK1):c.2053C>T (p.Pro685Ser)	PCSK1, CAST +1 more (P638S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743344	NM_000439.5(PCSK1):c.2034C>T (p.Asn678=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 2808136	NM_000439.5(PCSK1):c.1974G>A (p.Leu658=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2808656	NM_000439.5(PCSK1):c.1956G>T (p.Gly652=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2302633	NM_000439.5(PCSK1):c.1951G>A (p.Val651Ile)	CAST, LOC101929710 +1 more (V651I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3050656	NM_000439.5(PCSK1):c.1950C>T (p.Ser650=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related condition	GLikely benign
Select item 2635066	NM_000439.5(PCSK1):c.1935C>A (p.Ser645Arg)	LOC101929710, CAST +1 more (S598R +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 2121587	NM_000439.5(PCSK1):c.1926G>A (p.Val642=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1297896	NM_000439.5(PCSK1):c.1885-324C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222946	NM_000439.5(PCSK1):c.1884+107G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
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 3056519	NM_000439.5(PCSK1):c.1824G>T (p.Thr608=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related condition	GLikely benign
Select item 2414128	NM_000439.5(PCSK1):c.1824G>A (p.Thr608=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3040506	NM_000439.5(PCSK1):c.1807C>T (p.Gln603Ter)	CAST, LOC101929710 +1 more (Q556* +1 more)	Single nucleotide variant (nonsense +1 more)	PCSK1-related condition	GUncertain significance
Select item 3053341	NM_000439.5(PCSK1):c.1783T>G (p.Ser595Ala)	PCSK1, CAST +1 more (S548A +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	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 3045446	NM_000439.5(PCSK1):c.1776C>T (p.His592=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related condition	GLikely benign
Select item 450068	NM_000439.5(PCSK1):c.1774C>A (p.His592Asn)	CAST, LOC101929710 +1 more (H592N +1 more)	Single nucleotide variant (missense variant)	not provided	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 3030976	NM_000439.5(PCSK1):c.1746A>C (p.Gly582=)	LOC101929710, PCSK1 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related condition	GLikely benign
Select item 1917822	NM_000439.5(PCSK1):c.1746A>G (p.Gly582=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726539	NM_000439.5(PCSK1):c.1723-9A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	PCSK1-related condition +1 more	GLikely benign
Select item 1904900	NM_000439.5(PCSK1):c.1723-12C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261687	NM_000439.5(PCSK1):c.1723-153T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288669	NM_000439.5(PCSK1):c.1722+272T>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265015	NM_000439.5(PCSK1):c.1722+54A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1535129	NM_000439.5(PCSK1):c.1722+7G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2487997	NM_000439.5(PCSK1):c.1712T>A (p.Ile571Asn)	CAST, LOC101929710 +1 more (I571N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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