Related gene-specific medical variations for Gene (Select 5122) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 413

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369014	NM_000439.5(PCSK1):c.1778G>A (p.Gly593Glu)	CAST, LOC101929710 +1 more (G546E +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 3358661	NM_000439.5(PCSK1):c.573T>A (p.Asp191Glu)	CAST, LOC101929710 +1 more (D144E +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3358570	NM_000439.5(PCSK1):c.1208C>A (p.Thr403Asn)	CAST, LOC101929710 +1 more (T356N +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3358334	NM_000439.5(PCSK1):c.1059C>T (p.Thr353=)	LOC101929710, PCSK1 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3358255	NM_000439.5(PCSK1):c.1671C>T (p.His557=)	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3358061	NM_000439.5(PCSK1):c.596G>A (p.Arg199Gln)	LOC101929710, PCSK1 +1 more (R152Q +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3358016	NM_000439.5(PCSK1):c.836G>C (p.Gly279Ala)	CAST, LOC101929710 +1 more (G232A +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3357945	NM_000439.5(PCSK1):c.2121G>C (p.Leu707=)	PCSK1, CAST +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3357934	NM_000439.5(PCSK1):c.1197-10T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	PCSK1-related disorder	GLikely benign
Select item 3357512	NM_000439.5(PCSK1):c.1960C>T (p.Arg654Trp)	CAST, LOC101929710 +1 more (R607W +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3357293	NM_000439.5(PCSK1):c.1337C>T (p.Ala446Val)	CAST, LOC101929710 +1 more (A399V +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3357138	NM_000439.5(PCSK1):c.1884G>C (p.Glu628Asp)	CAST, LOC101929710 +1 more (E581D +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3357111	NM_000439.5(PCSK1):c.1053G>A (p.Leu351=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3357079	NM_000439.5(PCSK1):c.328C>T (p.Arg110Cys)	CAST, LOC101929710 +1 more (R110C +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3357051	NM_000439.5(PCSK1):c.710-5C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	PCSK1-related disorder	GLikely benign
Select item 3356497	NM_000439.5(PCSK1):c.1299G>C (p.Leu433Phe)	CAST, LOC101929710 +1 more (L386F +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3356179	NM_000439.5(PCSK1):c.904A>C (p.Ile302Leu)	CAST, LOC101929710 +1 more (I255L +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3356078	NM_000439.5(PCSK1):c.1136C>G (p.Thr379Arg)	CAST, LOC101929710 +1 more (T332R +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3355777	NM_000439.5(PCSK1):c.106G>A (p.Ala36Thr)	CAST, LOC101929710 +1 more (A36T)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GLikely pathogenic
Select item 3355562	NM_000439.5(PCSK1):c.329G>A (p.Arg110His)	CAST, LOC101929710 +1 more (R110H +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3355530	NM_000439.5(PCSK1):c.680T>C (p.Val227Ala)	CAST, LOC101929710 +1 more (V180A +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GLikely pathogenic
Select item 3355516	NM_000439.5(PCSK1):c.903C>A (p.Ser301=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3355442	NM_000439.5(PCSK1):c.930G>A (p.Gly310=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3355387	NM_000439.5(PCSK1):c.963C>T (p.Gly321=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3355375	NM_000439.5(PCSK1):c.1097C>T (p.Thr366Met)	CAST, LOC101929710 +1 more (T319M +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3355174	NM_000439.5(PCSK1):c.650C>T (p.Ala217Val)	CAST, LOC101929710 +1 more (A170V +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
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 3355111	NM_000439.5(PCSK1):c.1522C>A (p.Gln508Lys)	CAST, LOC101929710 +1 more (Q461K +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GLikely pathogenic
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 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 3354777	NM_000439.5(PCSK1):c.1020C>T (p.Ser340=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3354732	NM_000439.5(PCSK1):c.1096A>G (p.Thr366Ala)	CAST, LOC101929710 +1 more (T319A +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3354458	NM_000439.5(PCSK1):c.710-3C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	PCSK1-related disorder	GLikely benign
Select item 3354132	NM_000439.5(PCSK1):c.234G>T (p.Arg78Ser)	CAST, LOC101929710 +1 more (R31S +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3353970	NM_000439.5(PCSK1):c.605C>A (p.Pro202His)	CAST, LOC101929710 +1 more (P155H +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3353880	NM_000439.5(PCSK1):c.1188G>C (p.Leu396=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3353822	NM_000439.5(PCSK1):c.1700G>A (p.Trp567Ter)	CAST, LOC101929710 +1 more (W520* +1 more)	Single nucleotide variant (nonsense +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3353788	NM_000439.5(PCSK1):c.1782C>A (p.Thr594=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3353753	NM_000439.5(PCSK1):c.732T>C (p.Ile244=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3353622	NM_000439.5(PCSK1):c.813T>C (p.Asn271=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3353580	NM_000439.5(PCSK1):c.972C>T (p.Asp324=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3353574	NM_000439.5(PCSK1):c.181-4A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	PCSK1-related disorder	GLikely benign
Select item 3353409	NM_000439.5(PCSK1):c.1434C>T (p.Ala478=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
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 3353346	NM_000439.5(PCSK1):c.750G>A (p.Glu250=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3353336	NM_000439.5(PCSK1):c.66G>A (p.Leu22=)	LOC101929710, PCSK1 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3353322	NM_000439.5(PCSK1):c.122G>C (p.Gly41Ala)	CAST, LOC101929710 +1 more (G41A)	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 3353169	NM_000439.5(PCSK1):c.1430+5G>C	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	PCSK1-related disorder	GLikely benign
Select item 3352550	NM_000439.5(PCSK1):c.869A>G (p.Tyr290Cys)	CAST, LOC101929710 +1 more (Y243C +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3352438	NM_000439.5(PCSK1):c.180+790C>G	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	PCSK1-related disorder	GLikely benign
Select item 3352287	NM_000439.5(PCSK1):c.701A>T (p.Lys234Ile)	CAST, LOC101929710 +1 more (K187I +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	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 3351947	NM_000439.5(PCSK1):c.1188G>A (p.Leu396=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3351784	NM_000439.5(PCSK1):c.141G>C (p.Ser47=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3351734	NM_000439.5(PCSK1):c.1711A>T (p.Ile571Phe)	CAST, LOC101929710 +1 more (I524F +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 3351670	NM_000439.5(PCSK1):c.1536A>T (p.Thr512=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3351667	NM_000439.5(PCSK1):c.933G>A (p.Gly311=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
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 3350878	NM_000439.5(PCSK1):c.1855G>C (p.Gly619Arg)	LOC101929710, PCSK1 +1 more (G572R +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3350828	NM_000439.5(PCSK1):c.1236C>T (p.Val412=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3350810	NM_000439.5(PCSK1):c.1269C>A (p.Asn423Lys)	CAST, LOC101929710 +1 more (N376K +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3350775	NM_000439.5(PCSK1):c.781G>A (p.Val261Met)	PCSK1, CAST +1 more (V214M +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3350698	NM_000439.5(PCSK1):c.339A>G (p.Leu113=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3350351	NM_000439.5(PCSK1):c.526G>A (p.Asp176Asn)	CAST, LOC101929710 +1 more (D129N +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	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 3350329	NM_000439.5(PCSK1):c.934C>T (p.Arg312Cys)	CAST, LOC101929710 +1 more (R265C +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3350263	NM_000439.5(PCSK1):c.462A>C (p.Lys154Asn)	CAST, LOC101929710 +1 more (K107N +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
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 3350037	NM_000439.5(PCSK1):c.894del (p.Lys299fs)	CAST, LOC101929710 +1 more (K252fs +1 more)	Deletion (frameshift variant +1 more)	PCSK1-related disorder	GLikely pathogenic
Select item 3349904	NM_000439.5(PCSK1):c.1002C>A (p.Ala334=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3349835	NM_000439.5(PCSK1):c.1023C>T (p.Pro341=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3349801	NM_000439.5(PCSK1):c.877A>C (p.Lys293Gln)	CAST, LOC101929710 +1 more (K246Q +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
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 3349439	NM_000439.5(PCSK1):c.875T>C (p.Val292Ala)	CAST, LOC101929710 +1 more (V245A +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3349212	NM_000439.5(PCSK1):c.181-5del	CAST, LOC101929710 +1 more	Deletion (intron variant)	PCSK1-related disorder	GLikely benign
Select item 3349094	NM_000439.5(PCSK1):c.1538T>C (p.Ile513Thr)	CAST, LOC101929710 +1 more (I466T +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
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 3348412	NM_000439.5(PCSK1):c.531T>C (p.Ile177=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3348363	NM_000439.5(PCSK1):c.769A>T (p.Asn257Tyr)	CAST, LOC101929710 +1 more (N210Y +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3348156	NM_000439.5(PCSK1):c.54T>G (p.Ala18=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3348147	NM_000439.5(PCSK1):c.255T>C (p.His85=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3348116	NM_000439.5(PCSK1):c.264G>A (p.Lys88=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3347957	NM_000439.5(PCSK1):c.286-4G>A	LOC101929710, CAST +1 more	Single nucleotide variant (intron variant)	PCSK1-related disorder	GUncertain significance
Select item 3347858	NM_000439.5(PCSK1):c.980A>G (p.Tyr327Cys)	CAST, LOC101929710 +1 more (Y280C +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3347648	NM_000439.5(PCSK1):c.716G>T (p.Arg239Ile)	PCSK1, LOC101929710 +1 more (R192I +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3347495	NM_000439.5(PCSK1):c.1408A>C (p.Lys470Gln)	CAST, LOC101929710 +1 more (K423Q +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
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 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 3346888	NM_000439.5(PCSK1):c.952G>T (p.Asp318Tyr)	CAST, LOC101929710 +1 more (D271Y +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3346687	NM_000439.5(PCSK1):c.52G>T (p.Ala18Ser)	CAST, LOC101929710 +1 more (A18S)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
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 3346098	NM_000439.5(PCSK1):c.1307del (p.Asn436fs)	CAST, LOC101929710 +1 more (N389fs +1 more)	Deletion (frameshift variant +1 more)	PCSK1-related disorder	GLikely pathogenic
Select item 3346064	NM_000439.5(PCSK1):c.1823C>T (p.Thr608Met)	CAST, LOC101929710 +1 more (T561M +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3345998	NM_000439.5(PCSK1):c.883-5T>G	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	PCSK1-related disorder	GUncertain significance
Select item 3345874	NM_000439.5(PCSK1):c.785A>T (p.Asp262Val)	CAST, LOC101929710 +1 more (D215V +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3345873	NM_000439.5(PCSK1):c.1298T>G (p.Leu433Trp)	CAST, LOC101929710 +1 more (L386W +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3345840	NM_000439.5(PCSK1):c.30C>A (p.Cys10Ter)	CAST, LOC101929710 +1 more (C10*)	Single nucleotide variant (nonsense +1 more)	PCSK1-related disorder	GLikely pathogenic
Select item 3345812	NM_000439.5(PCSK1):c.1458C>T (p.Ile486=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign

<< First< Prev

Page of 5