1515[HGNC] - 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	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +120 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)	not specified	GUncertain significance
Select item 3275162	NM_012081.6(ELL2):c.49C>A (p.Leu17Met)	CAST, ELL2 +1 more (L17M)	Single nucleotide variant (missense variant +1 more)	not specified	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	LOC101929710, CAST +1 more	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +2 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)	not provided +2 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)	not provided +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 3350346	NM_000439.5(PCSK1):c.*7T>G	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 1399925	NM_000439.5(PCSK1):c.2257A>C (p.Asn753His)	CAST, LOC101929710 +1 more (N706H +1 more)	Single nucleotide variant (missense variant)	not provided	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)	Inborn genetic diseases +1 more	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 disorder	GLikely benign
Select item 3349490	NM_000439.5(PCSK1):c.2205G>A (p.Lys735=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3354956	NM_000439.5(PCSK1):c.2193T>C (p.Thr731=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	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 3344869	NM_000439.5(PCSK1):c.2178T>G (p.Asp726Glu)	CAST, LOC101929710 +1 more (D679E +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3347188	NM_000439.5(PCSK1):c.2174T>A (p.Val725Asp)	CAST, LOC101929710 +1 more (V678D +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3353290	NM_000439.5(PCSK1):c.2173G>A (p.Val725Ile)	CAST, LOC101929710 +1 more (V678I +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	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 disorder	GUncertain significance
Select item 731961	NM_000439.5(PCSK1):c.2145C>T (p.Asp715=)	LOC101929710, PCSK1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 354638	NM_000439.5(PCSK1):c.2137C>T (p.Leu713Phe)	PCSK1, LOC101929710 +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 3357945	NM_000439.5(PCSK1):c.2121G>C (p.Leu707=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3350261	NM_000439.5(PCSK1):c.2104G>A (p.Glu702Lys)	CAST, LOC101929710 +1 more (E655K +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3353407	NM_000439.5(PCSK1):c.2102A>G (p.Tyr701Cys)	CAST, LOC101929710 +1 more (Y654C +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	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 disorder	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 disorder	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 provided +3 more	GBenign/Likely benign
Select item 3347393	NM_000439.5(PCSK1):c.2065C>T (p.Pro689Ser)	CAST, LOC101929710 +1 more (P642S +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 1319422	NM_000439.5(PCSK1):c.2053C>T (p.Pro685Ser)	CAST, LOC101929710 +1 more (P638S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351000	NM_000439.5(PCSK1):c.2040G>A (p.Pro680=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
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 3346212	NM_000439.5(PCSK1):c.2012T>A (p.Leu671Gln)	CAST, LOC101929710 +1 more (L624Q +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3351702	NM_000439.5(PCSK1):c.2006G>A (p.Arg669Gln)	CAST, LOC101929710 +1 more (R622Q +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
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 3352003	NM_000439.5(PCSK1):c.1978G>A (p.Glu660Lys)	CAST, LOC101929710 +1 more (E613K +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	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 3349020	NM_000439.5(PCSK1):c.1961G>A (p.Arg654Gln)	CAST, LOC101929710 +1 more (R607Q +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3357512	NM_000439.5(PCSK1):c.1960C>T (p.Arg654Trp)	PCSK1, CAST +1 more (R607W +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
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 disorder	GLikely benign
Select item 3355133	NM_000439.5(PCSK1):c.1939A>C (p.Ser647Arg)	CAST, LOC101929710 +1 more (S600R +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 2635066	NM_000439.5(PCSK1):c.1935C>A (p.Ser645Arg)	CAST, LOC101929710 +1 more (S598R +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 2121587	NM_000439.5(PCSK1):c.1926G>A (p.Val642=)	PCSK1, CAST +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3354907	NM_000439.5(PCSK1):c.1920C>T (p.Thr640=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely 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)	Obesity due to prohormone convertase I deficiency +2 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

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