"Ambry Genetics"[submitter] AND "FCSK"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 126

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3094262	NM_145059.3(FCSK):c.11C>T (p.Pro4Leu)	FCSK (P4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094259	NM_145059.3(FCSK):c.101A>G (p.Lys34Arg)	FCSK (K34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1682341	NM_145059.3(FCSK):c.103C>T (p.Arg35Trp)	FCSK (R35W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3094271	NM_145059.3(FCSK):c.158G>A (p.Arg53His)	FCSK (R53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094276	NM_145059.3(FCSK):c.169G>A (p.Gly57Arg)	FCSK (G57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1682343	NM_145059.3(FCSK):c.187G>A (p.Ala63Thr)	FCSK (A63T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1985410	NM_145059.3(FCSK):c.221G>A (p.Arg74Gln)	FCSK (R74Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2535333	NM_145059.3(FCSK):c.242C>T (p.Thr81Ile)	FCSK (T81I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278429	NM_145059.3(FCSK):c.309C>A (p.Asp103Glu)	FCSK (D103E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094294	NM_145059.3(FCSK):c.329G>C (p.Cys110Ser)	FCSK (C110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1907323	NM_145059.3(FCSK):c.374G>A (p.Cys125Tyr)	FCSK (C125Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3278430	NM_145059.3(FCSK):c.425C>G (p.Ser142Cys)	FCSK (S142C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2717712	NM_145059.3(FCSK):c.428C>T (p.Pro143Leu)	FCSK (P143L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3094295	NM_145059.3(FCSK):c.505C>T (p.Arg169Trp)	FCSK (R169W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094296	NM_145059.3(FCSK):c.511G>A (p.Ala171Thr)	FCSK (A171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606861	NM_145059.3(FCSK):c.529C>G (p.Pro177Ala)	FCSK (P177A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094297	NM_145059.3(FCSK):c.547G>T (p.Ala183Ser)	FCSK (A183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094298	NM_145059.3(FCSK):c.562G>A (p.Val188Ile)	FCSK (V188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094299	NM_145059.3(FCSK):c.593T>C (p.Leu198Ser)	FCSK (L198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094300	NM_145059.3(FCSK):c.628C>G (p.Gln210Glu)	FCSK (Q210E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520752	NM_145059.3(FCSK):c.655G>A (p.Val219Met)	FCSK (V219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094301	NM_145059.3(FCSK):c.658C>G (p.Pro220Ala)	FCSK (P220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600340	NM_145059.3(FCSK):c.704G>A (p.Arg235His)	FCSK (R235H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094302	NM_145059.3(FCSK):c.762C>G (p.Asp254Glu)	FCSK (D254E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094303	NM_145059.3(FCSK):c.772C>T (p.Arg258Trp)	FCSK (R258W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2082892	NM_145059.3(FCSK):c.775C>A (p.Pro259Thr)	FCSK (P259T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3278433	NM_145059.3(FCSK):c.791T>C (p.Leu264Pro)	FCSK (L264P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609664	NM_145059.3(FCSK):c.878A>T (p.Asp293Val)	FCSK (D293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2415669	NM_145059.3(FCSK):c.890C>T (p.Ala297Val)	FCSK (A297V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3094304	NM_145059.3(FCSK):c.959A>T (p.Tyr320Phe)	FCSK (Y320F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094305	NM_145059.3(FCSK):c.977A>G (p.Tyr326Cys)	FCSK (Y326C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2988354	NM_145059.3(FCSK):c.1049T>C (p.Ile350Thr)	FCSK (I350T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3094261	NM_145059.3(FCSK):c.1052T>A (p.Val351Glu)	FCSK (V351E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278427	NM_145059.3(FCSK):c.1147G>A (p.Val383Ile)	FCSK (V383I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094263	NM_145059.3(FCSK):c.1205C>T (p.Thr402Ile)	FCSK (T402I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094264	NM_145059.3(FCSK):c.1283G>A (p.Arg428Gln)	FCSK (R428Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3278426	NM_145059.3(FCSK):c.1325G>T (p.Arg442Leu)	FCSK (R442L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094265	NM_145059.3(FCSK):c.1333A>G (p.Ser445Gly)	FCSK (S445G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2918738	NM_145059.3(FCSK):c.1367A>G (p.Asn456Ser)	FCSK (N456S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1915457	NM_145059.3(FCSK):c.1385T>C (p.Phe462Ser)	FCSK (F462S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3094266	NM_145059.3(FCSK):c.1409C>G (p.Ala470Gly)	FCSK (A470G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094267	NM_145059.3(FCSK):c.1415A>C (p.Asp472Ala)	FCSK (D472A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1921895	NM_145059.3(FCSK):c.1433C>T (p.Thr478Met)	FCSK (T478M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3094269	NM_145059.3(FCSK):c.1438C>G (p.Pro480Ala)	FCSK (P480A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545559	NM_145059.3(FCSK):c.1439C>T (p.Pro480Leu)	FCSK (P480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094270	NM_145059.3(FCSK):c.1441G>A (p.Ala481Thr)	FCSK (A481T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520506	NM_145059.3(FCSK):c.1549G>A (p.Glu517Lys)	FCSK (E517K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2058096	NM_145059.3(FCSK):c.1580G>A (p.Arg527His)	FCSK (R527H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2699553	NM_145059.3(FCSK):c.1604C>T (p.Pro535Leu)	FCSK (P535L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2601287	NM_145059.3(FCSK):c.1621G>A (p.Ala541Thr)	FCSK (A541T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2027569	NM_145059.3(FCSK):c.1625C>T (p.Thr542Met)	FCSK (T542M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3094272	NM_145059.3(FCSK):c.1636C>T (p.Arg546Cys)	FCSK (R546C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2039788	NM_145059.3(FCSK):c.1639C>T (p.Arg547Trp)	FCSK (R547W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3094274	NM_145059.3(FCSK):c.1664T>C (p.Leu555Pro)	FCSK (L555P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2196252	NM_145059.3(FCSK):c.1673C>T (p.Ala558Val)	FCSK (A558V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3094275	NM_145059.3(FCSK):c.1675C>G (p.Arg559Gly)	FCSK (R559G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2037481	NM_145059.3(FCSK):c.1675C>T (p.Arg559Trp)	FCSK (R559W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2071286	NM_145059.3(FCSK):c.1702C>T (p.Leu568Phe)	FCSK (L568F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3094277	NM_145059.3(FCSK):c.1720A>C (p.Ile574Leu)	FCSK (I574L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616307	NM_145059.3(FCSK):c.1726G>T (p.Ala576Ser)	FCSK (A576S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094278	NM_145059.3(FCSK):c.1736G>T (p.Arg579Leu)	FCSK (R579L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557790	NM_145059.3(FCSK):c.1748C>T (p.Pro583Leu)	FCSK (P583L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2427847	NM_145059.3(FCSK):c.1750G>A (p.Gly584Arg)	FCSK (G584R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2519957	NM_145059.3(FCSK):c.1808C>T (p.Ala603Val)	FCSK (A603V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591646	NM_145059.3(FCSK):c.1813C>T (p.Arg605Trp)	FCSK (R605W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1682379	NM_145059.3(FCSK):c.1832C>T (p.Ala611Val)	FCSK (A611V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3094279	NM_145059.3(FCSK):c.1851G>A (p.Met617Ile)	FCSK (M617I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094280	NM_145059.3(FCSK):c.1861C>T (p.Arg621Cys)	FCSK (R621C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2066673	NM_145059.3(FCSK):c.1862G>A (p.Arg621His)	FCSK (R621H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1682382	NM_145059.3(FCSK):c.1886C>G (p.Ala629Gly)	FCSK (A629G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2689062	NM_145059.3(FCSK):c.1892A>G (p.Asn631Ser)	FCSK (N631S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1682383	NM_145059.3(FCSK):c.1894C>G (p.Pro632Ala)	FCSK (P632A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2068258	NM_145059.3(FCSK):c.1948G>A (p.Val650Met)	FCSK (V650M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031186	NM_145059.3(FCSK):c.1955C>T (p.Ala652Val)	FCSK (A652V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2491676	NM_145059.3(FCSK):c.1966G>C (p.Glu656Gln)	FCSK (E656Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615958	NM_145059.3(FCSK):c.1974C>G (p.Asp658Glu)	FCSK (D658E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094281	NM_145059.3(FCSK):c.2048G>T (p.Arg683Leu)	FCSK (R683L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094282	NM_145059.3(FCSK):c.2059A>G (p.Met687Val)	FCSK (M687V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278432	NM_145059.3(FCSK):c.2140C>T (p.Arg714Cys)	FCSK (R714C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539163	NM_145059.3(FCSK):c.2156G>A (p.Gly719Glu)	FCSK (G719E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1980525	NM_145059.3(FCSK):c.2171C>T (p.Thr724Met)	FCSK (T724M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3094283	NM_145059.3(FCSK):c.2185T>C (p.Tyr729His)	FCSK (Y729H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2013300	NM_145059.3(FCSK):c.2203G>C (p.Val735Leu)	FCSK (V735L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1682390	NM_145059.3(FCSK):c.2234G>A (p.Arg745His)	FCSK (R745H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2043968	NM_145059.3(FCSK):c.2260C>T (p.Arg754Cys)	FCSK (R754C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2048325	NM_145059.3(FCSK):c.2267C>T (p.Pro756Leu)	FCSK (P756L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3094284	NM_145059.3(FCSK):c.2272C>G (p.Pro758Ala)	FCSK (P758A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2151288	NM_145059.3(FCSK):c.2288C>T (p.Ala763Val)	FCSK (A763V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3094285	NM_145059.3(FCSK):c.2348T>C (p.Leu783Pro)	FCSK (L783P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2963556	NM_145059.3(FCSK):c.2393C>T (p.Ala798Val)	FCSK (A798V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3094286	NM_145059.3(FCSK):c.2467G>A (p.Gly823Arg)	FCSK (G823R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599477	NM_145059.3(FCSK):c.2507A>C (p.His836Pro)	FCSK (H836P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1902915	NM_145059.3(FCSK):c.2509G>A (p.Gly837Ser)	FCSK (G837S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3278434	NM_145059.3(FCSK):c.2545A>G (p.Thr849Ala)	FCSK (T849A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094287	NM_145059.3(FCSK):c.2558C>A (p.Ala853Asp)	FCSK (A853D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278431	NM_145059.3(FCSK):c.2567G>A (p.Arg856Gln)	FCSK (R856Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616114	NM_145059.3(FCSK):c.2575G>C (p.Gly859Arg)	FCSK (G859R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1926987	NM_145059.3(FCSK):c.2591C>T (p.Thr864Met)	FCSK (T864M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2164175	NM_145059.3(FCSK):c.2608G>A (p.Ala870Thr)	FCSK (A870T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1922997	NM_145059.3(FCSK):c.2696G>A (p.Arg899His)	FCSK (R899H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

<< First< Prev

Page of 2