MRC2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 151771	GRCh38/hg38 17q23.2-23.3(chr17:61631101-63219455)x1	BRIP1, EFCAB3 +39 more	Copy number loss	See cases	GLikely pathogenic
Select item 153259	GRCh38/hg38 17q23.2(chr17:62039036-62927189)x3	EFCAB3, LOC105371855 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 2464174	NM_006039.5(MRC2):c.64C>T (p.Leu22Phe)	LOC130061372, MRC2 (L22F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203934	NM_006039.5(MRC2):c.213C>A (p.Ser71Arg)	MRC2 (S71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203975	NM_006039.5(MRC2):c.341G>A (p.Arg114Gln)	MRC2 (R114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369831	NM_006039.5(MRC2):c.409C>T (p.Arg137Cys)	MRC2 (R137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220996	NM_006039.5(MRC2):c.410G>A (p.Arg137His)	MRC2 (R137H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508197	NM_006039.5(MRC2):c.431C>T (p.Pro144Leu)	MRC2 (P144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236274	NM_006039.5(MRC2):c.463A>G (p.Ser155Gly)	MRC2 (S155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778720	NM_006039.5(MRC2):c.464G>C (p.Ser155Thr)	MRC2 (S155T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2245679	NM_006039.5(MRC2):c.553A>G (p.Lys185Glu)	MRC2 (K185E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282741	NM_006039.5(MRC2):c.608G>C (p.Ser203Thr)	MRC2 (S203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485815	NM_006039.5(MRC2):c.631C>G (p.Leu211Val)	MRC2 (L211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295788	NM_006039.5(MRC2):c.649C>A (p.Gln217Lys)	MRC2 (Q217K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509797	NM_006039.5(MRC2):c.658G>A (p.Gly220Ser)	MRC2 (G220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204070	NM_006039.5(MRC2):c.659G>A (p.Gly220Asp)	MRC2 (G220D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609357	NM_006039.5(MRC2):c.671G>A (p.Arg224His)	MRC2 (R224H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295797	NM_006039.5(MRC2):c.766A>G (p.Thr256Ala)	MRC2 (T256A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551318	NM_006039.5(MRC2):c.773C>T (p.Ser258Leu)	MRC2 (S258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295794	NM_006039.5(MRC2):c.808G>C (p.Gly270Arg)	MRC2 (G270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229139	NM_006039.5(MRC2):c.830C>T (p.Thr277Met)	MRC2 (T277M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204360	NM_006039.5(MRC2):c.972T>G (p.Ser324Arg)	MRC2 (S324R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203890	NM_006039.5(MRC2):c.1135A>C (p.Lys379Gln)	MRC2 (K379Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203892	NM_006039.5(MRC2):c.1201C>T (p.Arg401Cys)	MRC2 (R401C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203893	NM_006039.5(MRC2):c.1285A>C (p.Ile429Leu)	MRC2 (I429L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210460	NM_006039.5(MRC2):c.1460C>T (p.Pro487Leu)	MRC2 (P487L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203896	NM_006039.5(MRC2):c.1509C>G (p.Ile503Met)	MRC2 (I503M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255148	NM_006039.5(MRC2):c.1536G>C (p.Gln512His)	MRC2 (Q512H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203898	NM_006039.5(MRC2):c.1577C>A (p.Thr526Lys)	MRC2 (T526K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411660	NM_006039.5(MRC2):c.1639C>T (p.Arg547Cys)	MRC2 (R547C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311702	NM_006039.5(MRC2):c.1656T>G (p.His552Gln)	MRC2 (H552Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315964	NM_006039.5(MRC2):c.1763A>C (p.Asn588Thr)	MRC2 (N588T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285449	NM_006039.5(MRC2):c.1789A>G (p.Ser597Gly)	MRC2 (S597G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203903	NM_006039.5(MRC2):c.1822C>T (p.Arg608Trp)	MRC2 (R608W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469491	NM_006039.5(MRC2):c.1855G>A (p.Val619Met)	MRC2 (V619M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286071	NM_006039.5(MRC2):c.1859C>T (p.Ala620Val)	MRC2 (A620V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588358	NM_006039.5(MRC2):c.1864G>T (p.Ala622Ser)	MRC2 (A622S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283578	NM_006039.5(MRC2):c.1876G>T (p.Ala626Ser)	MRC2 (A626S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203910	NM_006039.5(MRC2):c.1915C>T (p.Arg639Trp)	MRC2 (R639W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315384	NM_006039.5(MRC2):c.1921C>T (p.Arg641Cys)	MRC2 (R641C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234910	NM_006039.5(MRC2):c.1934G>A (p.Arg645Gln)	MRC2 (R645Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203917	NM_006039.5(MRC2):c.1958C>T (p.Thr653Met)	MRC2 (T653M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546931	NM_006039.5(MRC2):c.1961C>T (p.Pro654Leu)	MRC2 (P654L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488965	NM_006039.5(MRC2):c.1985C>T (p.Thr662Met)	MRC2 (T662M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381189	NM_006039.5(MRC2):c.2024C>T (p.Ser675Leu)	MRC2 (S675L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398953	NM_006039.5(MRC2):c.2038C>T (p.Arg680Trp)	MRC2 (R680W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280066	NM_006039.5(MRC2):c.2068C>T (p.Arg690Trp)	MRC2 (R690W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203932	NM_006039.5(MRC2):c.2077G>T (p.Asp693Tyr)	MRC2 (D693Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491556	NM_006039.5(MRC2):c.2152G>C (p.Glu718Gln)	MRC2 (E718Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203938	NM_006039.5(MRC2):c.2182A>C (p.Asn728His)	MRC2 (N728H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203941	NM_006039.5(MRC2):c.2222A>G (p.Gln741Arg)	MRC2 (Q741R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203944	NM_006039.5(MRC2):c.2264G>T (p.Gly755Val)	MRC2 (G755V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465442	NM_006039.5(MRC2):c.2446G>A (p.Val816Met)	MRC2 (V816M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774234	NM_006039.5(MRC2):c.2473+7A>G	MRC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3203952	NM_006039.5(MRC2):c.2554A>C (p.Ile852Leu)	MRC2 (I852L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295791	NM_006039.5(MRC2):c.2572G>T (p.Ala858Ser)	MRC2 (A858S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203955	NM_006039.5(MRC2):c.2812G>A (p.Gly938Arg)	MRC2 (G938R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396463	NM_006039.5(MRC2):c.2941A>C (p.Asn981His)	MRC2 (N981H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411060	NM_006039.5(MRC2):c.2980C>T (p.Arg994Trp)	MRC2 (R994W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295789	NM_006039.5(MRC2):c.3050C>T (p.Pro1017Leu)	MRC2 (P1017L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295793	NM_006039.5(MRC2):c.3067A>G (p.Ile1023Val)	MRC2 (I1023V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295792	NM_006039.5(MRC2):c.3095T>C (p.Phe1032Ser)	MRC2 (F1032S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295795	NM_006039.5(MRC2):c.3155C>G (p.Pro1052Arg)	MRC2 (P1052R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604364	NM_006039.5(MRC2):c.3205G>T (p.Ala1069Ser)	MRC2 (A1069S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292231	NM_006039.5(MRC2):c.3205G>C (p.Ala1069Pro)	MRC2 (A1069P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203966	NM_006039.5(MRC2):c.3223C>A (p.Pro1075Thr)	MRC2 (P1075T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562501	NM_006039.5(MRC2):c.3305C>T (p.Thr1102Ile)	MRC2 (T1102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255247	NM_006039.5(MRC2):c.3332C>T (p.Thr1111Met)	MRC2 (T1111M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203974	NM_006039.5(MRC2):c.3379G>A (p.Gly1127Ser)	MRC2 (G1127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373446	NM_006039.5(MRC2):c.3434G>A (p.Arg1145His)	MRC2 (R1145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569972	NM_006039.5(MRC2):c.3466C>T (p.Arg1156Cys)	MRC2 (R1156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203983	NM_006039.5(MRC2):c.3472G>A (p.Ala1158Thr)	MRC2 (A1158T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203986	NM_006039.5(MRC2):c.3530G>T (p.Arg1177Leu)	MRC2 (R1177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387346	NM_006039.5(MRC2):c.3530G>A (p.Arg1177Gln)	MRC2 (R1177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484388	NM_006039.5(MRC2):c.3607C>G (p.Pro1203Ala)	MRC2 (P1203A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520351	NM_006039.5(MRC2):c.3641C>T (p.Pro1214Leu)	MRC2 (P1214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303788	NM_006039.5(MRC2):c.3649C>T (p.Pro1217Ser)	MRC2 (P1217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523591	NM_006039.5(MRC2):c.3706A>G (p.Thr1236Ala)	MRC2 (T1236A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313097	NM_006039.5(MRC2):c.3752C>T (p.Pro1251Leu)	MRC2 (P1251L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204007	NM_006039.5(MRC2):c.3767G>A (p.Ser1256Asn)	MRC2 (S1256N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526422	NM_006039.5(MRC2):c.3773A>C (p.His1258Pro)	MRC2 (H1258P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295787	NM_006039.5(MRC2):c.3806C>T (p.Ala1269Val)	MRC2 (A1269V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204024	NM_006039.5(MRC2):c.3844A>G (p.Met1282Val)	MRC2 (M1282V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349529	NM_006039.5(MRC2):c.3875G>A (p.Arg1292Gln)	MRC2 (R1292Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295790	NM_006039.5(MRC2):c.4064G>A (p.Gly1355Glu)	MRC2 (G1355E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784361	NM_006039.5(MRC2):c.4291G>A (p.Ala1431Thr)	MRC2 (A1431T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3204041	NM_006039.5(MRC2):c.4330C>T (p.Arg1444Cys)	MRC2 (R1444C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204045	NM_006039.5(MRC2):c.4331G>A (p.Arg1444His)	MRC2 (R1444H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482422	NM_006039.5(MRC2):c.4364G>A (p.Ser1455Asn)	MRC2 (S1455N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 2580297	GRCh37/hg19 17q23.2-23.3(chr17:60705832-61417743)x1	MARCHF10, MRC2 +1 more	Copy number loss	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 1808124	GRCh37/hg19 17q23.2(chr17:60695522-60809245)x1	MARCHF10, MRC2	Copy number loss	not provided	GUncertain significance
Select item 978816	Single allele	MRC2, TLK2	Deletion	Intellectual disability, autosomal dominant 57	GLikely pathogenic
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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