MROH2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 3205406	NM_173489.5(MROH2B):c.4751C>T (p.Pro1584Leu)	MROH2B (P1584L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302321	NM_173489.5(MROH2B):c.4678T>C (p.Cys1560Arg)	MROH2B (C1560R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399149	NM_173489.5(MROH2B):c.4674T>A (p.Asp1558Glu)	MROH2B (D1558E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205395	NM_173489.5(MROH2B):c.4646C>A (p.Thr1549Asn)	MROH2B (T1549N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234101	NM_173489.5(MROH2B):c.4583C>T (p.Thr1528Ile)	MROH2B (T1528I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381924	NM_173489.5(MROH2B):c.4565G>A (p.Ser1522Asn)	MROH2B (S1522N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349035	NM_173489.5(MROH2B):c.4470C>A (p.Phe1490Leu)	MROH2B (F1490L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369066	NM_173489.5(MROH2B):c.4421G>A (p.Arg1474His)	MROH2B (R1474H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205384	NM_173489.5(MROH2B):c.4412T>C (p.Val1471Ala)	MROH2B (V1471A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205379	NM_173489.5(MROH2B):c.4406A>G (p.Tyr1469Cys)	MROH2B (Y1469C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377285	NM_173489.5(MROH2B):c.4399G>A (p.Glu1467Lys)	MROH2B (E1467K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311814	NM_173489.5(MROH2B):c.4370T>A (p.Met1457Lys)	MROH2B (M1457K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347524	NM_173489.5(MROH2B):c.4358G>A (p.Arg1453His)	MROH2B (R1453H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295890	NM_173489.5(MROH2B):c.4357C>T (p.Arg1453Cys)	MROH2B (R1453C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355385	NM_173489.5(MROH2B):c.4339A>G (p.Lys1447Glu)	MROH2B (K1447E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369041	NM_173489.5(MROH2B):c.4335C>A (p.Asn1445Lys)	MROH2B (N1445K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205363	NM_173489.5(MROH2B):c.4287A>C (p.Glu1429Asp)	MROH2B (E1429D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655446	NM_173489.5(MROH2B):c.4287A>G (p.Glu1429=)	MROH2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3205357	NM_173489.5(MROH2B):c.4263G>T (p.Arg1421Ser)	MROH2B (R1421S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205353	NM_173489.5(MROH2B):c.4136G>A (p.Arg1379Gln)	MROH2B (R1379Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205348	NM_173489.5(MROH2B):c.4048A>G (p.Ile1350Val)	MROH2B (I1350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472233	NM_173489.5(MROH2B):c.3949G>T (p.Ala1317Ser)	MROH2B (A1317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222668	NM_173489.5(MROH2B):c.3909T>A (p.Asn1303Lys)	MROH2B (N1303K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916268	NM_173489.5(MROH2B):c.3798G>A (p.Gln1266=)	MROH2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3295887	NM_173489.5(MROH2B):c.3751A>C (p.Ser1251Arg)	MROH2B (S1251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274962	NM_173489.5(MROH2B):c.3635T>C (p.Leu1212Ser)	MROH2B (L1212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220695	NM_173489.5(MROH2B):c.3559C>T (p.Arg1187Trp)	LOC126807374, MROH2B (R1187W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655447	NM_173489.5(MROH2B):c.3468C>T (p.Thr1156=)	LOC126807374, MROH2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3205324	NM_173489.5(MROH2B):c.3392A>G (p.Asp1131Gly)	LOC126807374, MROH2B (D1131G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286305	NM_173489.5(MROH2B):c.3323C>A (p.Ala1108Asp)	LOC126807374, MROH2B (A1108D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381898	NM_173489.5(MROH2B):c.3237C>G (p.Ser1079Arg)	MROH2B (S1079R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263813	NM_173489.5(MROH2B):c.3226C>G (p.Gln1076Glu)	MROH2B (Q1076E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205311	NM_173489.5(MROH2B):c.3220A>T (p.Ile1074Phe)	MROH2B (I1074F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205308	NM_173489.5(MROH2B):c.3110A>G (p.Gln1037Arg)	MROH2B (Q1037R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476712	NM_173489.5(MROH2B):c.3107A>T (p.Lys1036Met)	MROH2B (K1036M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205302	NM_173489.5(MROH2B):c.3106A>G (p.Lys1036Glu)	MROH2B (K1036E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295886	NM_173489.5(MROH2B):c.3065C>T (p.Thr1022Ile)	MROH2B (T1022I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556817	NM_173489.5(MROH2B):c.3064A>G (p.Thr1022Ala)	MROH2B (T1022A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205296	NM_173489.5(MROH2B):c.3041A>G (p.Asp1014Gly)	MROH2B (D1014G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205294	NM_173489.5(MROH2B):c.3040G>C (p.Asp1014His)	MROH2B (D1014H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472839	NM_173489.5(MROH2B):c.2977G>T (p.Ala993Ser)	MROH2B (A993S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284269	NM_173489.5(MROH2B):c.2932G>A (p.Glu978Lys)	MROH2B (E978K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246589	NM_173489.5(MROH2B):c.2912A>C (p.Gln971Pro)	MROH2B (Q971P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205283	NM_173489.5(MROH2B):c.2846C>T (p.Ala949Val)	MROH2B (A949V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363789	NM_173489.5(MROH2B):c.2806G>A (p.Ala936Thr)	MROH2B (A936T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257423	NM_173489.5(MROH2B):c.2663A>T (p.Glu888Val)	MROH2B (E888V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295884	NM_173489.5(MROH2B):c.2602G>A (p.Ala868Thr)	MROH2B (A868T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295885	NM_173489.5(MROH2B):c.2600A>G (p.Asp867Gly)	MROH2B (D867G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205274	NM_173489.5(MROH2B):c.2560G>A (p.Asp854Asn)	MROH2B (D854N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493225	NM_173489.5(MROH2B):c.2428A>G (p.Ile810Val)	MROH2B (I810V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227179	NM_173489.5(MROH2B):c.2416G>A (p.Ala806Thr)	MROH2B (A806T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398147	NM_173489.5(MROH2B):c.2387A>G (p.Asp796Gly)	MROH2B (D796G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552367	NM_173489.5(MROH2B):c.2386G>T (p.Asp796Tyr)	MROH2B (D796Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256657	NM_173489.5(MROH2B):c.2370T>G (p.Ile790Met)	MROH2B (I790M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281842	NM_173489.5(MROH2B):c.2296G>C (p.Val766Leu)	MROH2B (V766L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513823	NM_173489.5(MROH2B):c.2288G>A (p.Gly763Asp)	MROH2B (G763D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382207	NM_173489.5(MROH2B):c.2259G>T (p.Met753Ile)	MROH2B (M753I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403104	NM_173489.5(MROH2B):c.2241+8_2241+9insAAATAGAT	MROH2B	Insertion (intron variant)	not specified	GBenign
Select item 3205249	NM_173489.5(MROH2B):c.2238C>G (p.Asn746Lys)	MROH2B (N746K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282129	NM_173489.5(MROH2B):c.2179T>C (p.Ser727Pro)	MROH2B (S727P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205241	NM_173489.5(MROH2B):c.2176A>C (p.Ile726Leu)	MROH2B (I726L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265495	NM_173489.5(MROH2B):c.2134G>A (p.Ala712Thr)	MROH2B (A712T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205235	NM_173489.5(MROH2B):c.2054G>A (p.Arg685Gln)	MROH2B (R685Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222073	NM_173489.5(MROH2B):c.2047A>G (p.Met683Val)	MROH2B (M683V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295894	NM_173489.5(MROH2B):c.2035G>A (p.Glu679Lys)	MROH2B (E679K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214786	NM_173489.5(MROH2B):c.2000T>C (p.Ile667Thr)	MROH2B (I667T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205221	NM_173489.5(MROH2B):c.1980T>G (p.Cys660Trp)	MROH2B (C660W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371828	NM_173489.5(MROH2B):c.1911G>C (p.Lys637Asn)	MROH2B (K637N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520363	NM_173489.5(MROH2B):c.1873T>C (p.Cys625Arg)	MROH2B (C625R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489999	NM_173489.5(MROH2B):c.1856T>C (p.Leu619Ser)	MROH2B (L619S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216334	NM_173489.5(MROH2B):c.1819A>C (p.Asn607His)	MROH2B (N607H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590706	NM_173489.5(MROH2B):c.1796A>G (p.Lys599Arg)	MROH2B (K599R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222902	NM_173489.5(MROH2B):c.1676C>G (p.Pro559Arg)	MROH2B (P559R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205190	NM_173489.5(MROH2B):c.1639G>A (p.Asp547Asn)	MROH2B (D547N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375341	NM_173489.5(MROH2B):c.1636G>T (p.Val546Leu)	MROH2B (V546L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655448	NM_173489.5(MROH2B):c.1633T>C (p.Leu545=)	MROH2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3295893	NM_173489.5(MROH2B):c.1550C>G (p.Ser517Cys)	MROH2B (S517C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295883	NM_173489.5(MROH2B):c.1450A>C (p.Lys484Gln)	MROH2B (K484Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386345	NM_173489.5(MROH2B):c.1303G>A (p.Val435Ile)	MROH2B (V435I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295891	NM_173489.5(MROH2B):c.1289A>G (p.Glu430Gly)	MROH2B (E430G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296649	NM_173489.5(MROH2B):c.1261A>T (p.Asn421Tyr)	MROH2B (N421Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268637	NM_173489.5(MROH2B):c.1244A>G (p.Lys415Arg)	MROH2B (K415R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395809	NM_173489.5(MROH2B):c.1214C>T (p.Thr405Met)	MROH2B (T405M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347199	NM_173489.5(MROH2B):c.1180C>T (p.Pro394Ser)	MROH2B (P394S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403420	NM_173489.5(MROH2B):c.1168C>T (p.Arg390Trp)	MROH2B (R390W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262139	NM_173489.5(MROH2B):c.1160T>C (p.Ile387Thr)	MROH2B (I387T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295892	NM_173489.5(MROH2B):c.1034A>G (p.Glu345Gly)	MROH2B (E345G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205435	NM_173489.5(MROH2B):c.898T>C (p.Ser300Pro)	MROH2B (S300P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596084	NM_173489.5(MROH2B):c.898T>A (p.Ser300Thr)	MROH2B (S300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916269	NM_173489.5(MROH2B):c.879G>A (p.Lys293=)	MROH2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2494457	NM_173489.5(MROH2B):c.824C>A (p.Ser275Tyr)	MROH2B (S275Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391311	NM_173489.5(MROH2B):c.802C>G (p.Leu268Val)	MROH2B (L268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285163	NM_173489.5(MROH2B):c.793G>A (p.Asp265Asn)	MROH2B (D265N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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