ClinVar for Gene (Select 9902) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3204045	NM_006039.5(MRC2):c.4331G>A (p.Arg1444His)	MRC2 (R1444H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3204024	NM_006039.5(MRC2):c.3844A>G (p.Met1282Val)	MRC2 (M1282V)	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 3203986	NM_006039.5(MRC2):c.3530G>T (p.Arg1177Leu)	MRC2 (R1177L)	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 3203975	NM_006039.5(MRC2):c.341G>A (p.Arg114Gln)	MRC2 (R114Q)	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 3203966	NM_006039.5(MRC2):c.3223C>A (p.Pro1075Thr)	MRC2 (P1075T)	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 3203952	NM_006039.5(MRC2):c.2554A>C (p.Ile852Leu)	MRC2 (I852L)	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 3203941	NM_006039.5(MRC2):c.2222A>G (p.Gln741Arg)	MRC2 (Q741R)	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 3203934	NM_006039.5(MRC2):c.213C>A (p.Ser71Arg)	MRC2 (S71R)	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 3203917	NM_006039.5(MRC2):c.1958C>T (p.Thr653Met)	MRC2 (T653M)	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 3203903	NM_006039.5(MRC2):c.1822C>T (p.Arg608Trp)	MRC2 (R608W)	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 3203896	NM_006039.5(MRC2):c.1509C>G (p.Ile503Met)	MRC2 (I503M)	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 3203892	NM_006039.5(MRC2):c.1201C>T (p.Arg401Cys)	MRC2 (R401C)	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 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	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 2604364	NM_006039.5(MRC2):c.3205G>T (p.Ala1069Ser)	MRC2 (A1069S)	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 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 2569972	NM_006039.5(MRC2):c.3466C>T (p.Arg1156Cys)	MRC2 (R1156C)	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 2551318	NM_006039.5(MRC2):c.773C>T (p.Ser258Leu)	MRC2 (S258L)	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 2526422	NM_006039.5(MRC2):c.3773A>C (p.His1258Pro)	MRC2 (H1258P)	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 2520351	NM_006039.5(MRC2):c.3641C>T (p.Pro1214Leu)	MRC2 (P1214L)	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 2508197	NM_006039.5(MRC2):c.431C>T (p.Pro144Leu)	MRC2 (P144L)	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 2488965	NM_006039.5(MRC2):c.1985C>T (p.Thr662Met)	MRC2 (T662M)	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 2484388	NM_006039.5(MRC2):c.3607C>G (p.Pro1203Ala)	MRC2 (P1203A)	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 2469491	NM_006039.5(MRC2):c.1855G>A (p.Val619Met)	MRC2 (V619M)	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 2464174	NM_006039.5(MRC2):c.64C>T (p.Leu22Phe)	LOC130061372, MRC2 (L22F)	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 2411060	NM_006039.5(MRC2):c.2980C>T (p.Arg994Trp)	MRC2 (R994W)	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 2396463	NM_006039.5(MRC2):c.2941A>C (p.Asn981His)	MRC2 (N981H)	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 2381189	NM_006039.5(MRC2):c.2024C>T (p.Ser675Leu)	MRC2 (S675L)	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 2369831	NM_006039.5(MRC2):c.409C>T (p.Arg137Cys)	MRC2 (R137C)	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 2315964	NM_006039.5(MRC2):c.1763A>C (p.Asn588Thr)	MRC2 (N588T)	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 2313097	NM_006039.5(MRC2):c.3752C>T (p.Pro1251Leu)	MRC2 (P1251L)	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 2303788	NM_006039.5(MRC2):c.3649C>T (p.Pro1217Ser)	MRC2 (P1217S)	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 2286071	NM_006039.5(MRC2):c.1859C>T (p.Ala620Val)	MRC2 (A620V)	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 2283578	NM_006039.5(MRC2):c.1876G>T (p.Ala626Ser)	MRC2 (A626S)	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 2280066	NM_006039.5(MRC2):c.2068C>T (p.Arg690Trp)	MRC2 (R690W)	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 2255148	NM_006039.5(MRC2):c.1536G>C (p.Gln512His)	MRC2 (Q512H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2236274	NM_006039.5(MRC2):c.463A>G (p.Ser155Gly)	MRC2 (S155G)	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 2229139	NM_006039.5(MRC2):c.830C>T (p.Thr277Met)	MRC2 (T277M)	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 2210460	NM_006039.5(MRC2):c.1460C>T (p.Pro487Leu)	MRC2 (P487L)	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 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 784361	NM_006039.5(MRC2):c.4291G>A (p.Ala1431Thr)	MRC2 (A1431T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778720	NM_006039.5(MRC2):c.464G>C (p.Ser155Thr)	MRC2 (S155T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774234	NM_006039.5(MRC2):c.2473+7A>G	MRC2	Single nucleotide variant (intron variant)	not provided	GBenign
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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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
Select item 394250	GRCh37/hg19 17q23.2(chr17:60564676-60704776)x1	MRC2, TLK2	Copy number loss	See cases	GLikely benign
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 153259	GRCh38/hg38 17q23.2(chr17:62039036-62927189)x3	EFCAB3, LOC105371855 +27 more	Copy number gain	See cases	GLikely pathogenic
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 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 93