MROH6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 146735	GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	ADGRB1, ARC +140 more	Copy number loss	See cases	GPathogenic
Select item 2558287	NM_001100878.2(MROH6):c.2149C>T (p.Arg717Cys)	MROH6 (R717C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351855	NM_001100878.2(MROH6):c.2129G>A (p.Arg710His)	MROH6 (R710H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358471	NM_001100878.2(MROH6):c.2128C>T (p.Arg710Cys)	MROH6 (R710C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206006	NM_001100878.2(MROH6):c.2122G>A (p.Ala708Thr)	MROH6 (A708T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550951	NM_001100878.2(MROH6):c.2119G>A (p.Val707Ile)	MROH6 (V707I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295928	NM_001100878.2(MROH6):c.2117G>T (p.Ser706Ile)	MROH6 (S706I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295926	NM_001100878.2(MROH6):c.2110C>T (p.Arg704Cys)	MROH6 (R704C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336049	NM_001100878.2(MROH6):c.2092G>A (p.Ala698Thr)	MROH6 (A698T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344475	NM_001100878.2(MROH6):c.2077C>A (p.Pro693Thr)	MROH6 (P693T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205991	NM_001100878.2(MROH6):c.2075G>A (p.Arg692Gln)	MROH6 (R692Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550379	NM_001100878.2(MROH6):c.2065C>T (p.Arg689Cys)	MROH6 (R689C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530511	NM_001100878.2(MROH6):c.2063C>T (p.Pro688Leu)	MROH6 (P688L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205987	NM_001100878.2(MROH6):c.2059G>A (p.Ala687Thr)	MROH6 (A687T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464068	NM_001100878.2(MROH6):c.2038G>A (p.Gly680Arg)	MROH6 (G680R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205979	NM_001100878.2(MROH6):c.2018G>A (p.Arg673His)	MROH6 (R673H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359269	NM_001100878.2(MROH6):c.2006C>T (p.Ala669Val)	MROH6 (A669V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488463	NM_001100878.2(MROH6):c.1987G>A (p.Val663Met)	MROH6 (V663M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371429	NM_001100878.2(MROH6):c.1976C>T (p.Ala659Val)	MROH6 (A659V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460365	NM_001100878.2(MROH6):c.1975G>A (p.Ala659Thr)	MROH6 (A659T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384043	NM_001100878.2(MROH6):c.1969G>A (p.Val657Met)	MROH6 (V657M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224985	NM_001100878.2(MROH6):c.1943G>A (p.Arg648Gln)	MROH6 (R648Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 599375	NM_001100878.2(MROH6):c.1904A>T (p.Asn635Ile)	MROH6 (N635I)	Single nucleotide variant (missense variant)	Autosomal recessive non-syndromic intellectual disability	GUncertain significance
Select item 2549458	NM_001100878.2(MROH6):c.1898G>A (p.Cys633Tyr)	MROH6 (C633Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366379	NM_001100878.2(MROH6):c.1894G>A (p.Gly632Ser)	MROH6 (G632S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356856	NM_001100878.2(MROH6):c.1883A>C (p.His628Pro)	MROH6 (H628P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387934	NM_001100878.2(MROH6):c.1846C>T (p.Arg616Trp)	MROH6 (R616W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241703	NM_001100878.2(MROH6):c.1828C>G (p.Pro610Ala)	MROH6 (P610A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205949	NM_001100878.2(MROH6):c.1786G>A (p.Val596Met)	MROH6 (V596M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295916	NM_001100878.2(MROH6):c.1759C>T (p.Arg587Cys)	MROH6 (R587C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205942	NM_001100878.2(MROH6):c.1744A>G (p.Ser582Gly)	MROH6 (S582G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592565	NM_001100878.2(MROH6):c.1701G>C (p.Glu567Asp)	MROH6 (E567D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205939	NM_001100878.2(MROH6):c.1699G>C (p.Glu567Gln)	MROH6 (E567Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280606	NM_001100878.2(MROH6):c.1678G>A (p.Ala560Thr)	MROH6 (A560T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519605	NM_001100878.2(MROH6):c.1667G>A (p.Arg556His)	MROH6 (R556H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620654	NM_001100878.2(MROH6):c.1624C>T (p.Pro542Ser)	MROH6 (P542S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205925	NM_001100878.2(MROH6):c.1568C>A (p.Pro523His)	MROH6 (P523H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206075	NM_001100878.2(MROH6):c.1541G>T (p.Gly514Val)	MROH6 (G514V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490482	NM_001100878.2(MROH6):c.1513C>T (p.Leu505Phe)	MROH6 (L505F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242212	NM_001100878.2(MROH6):c.1510C>A (p.Leu504Ile)	MROH6 (L504I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284216	NM_001100878.2(MROH6):c.1499C>T (p.Ser500Leu)	MROH6 (S500L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393649	NM_001100878.2(MROH6):c.1481G>A (p.Arg494Gln)	MROH6 (R494Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382746	NM_001100878.2(MROH6):c.1387G>T (p.Ala463Ser)	MROH6 (A463S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295922	NM_001100878.2(MROH6):c.1348G>T (p.Gly450Cys)	MROH6 (G450C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222702	NM_001100878.2(MROH6):c.1342G>T (p.Ala448Ser)	MROH6 (A448S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246386	NM_001100878.2(MROH6):c.1294C>T (p.Arg432Cys)	MROH6 (R432C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261180	NM_001100878.2(MROH6):c.1285G>A (p.Ala429Thr)	MROH6 (A429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295927	NM_001100878.2(MROH6):c.1247C>T (p.Thr416Ile)	MROH6 (T416I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557030	NM_001100878.2(MROH6):c.1184G>A (p.Arg395Gln)	MROH6 (R395Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556959	NM_001100878.2(MROH6):c.1130G>A (p.Arg377His)	MROH6 (R377H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531662	NM_001100878.2(MROH6):c.1114G>A (p.Ala372Thr)	MROH6 (A372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333919	NM_001100878.2(MROH6):c.1081C>G (p.Leu361Val)	MROH6 (L361V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271626	NM_001100878.2(MROH6):c.1054G>A (p.Ala352Thr)	MROH6 (A352T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205875	NM_001100878.2(MROH6):c.1049T>C (p.Met350Thr)	MROH6 (M350T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522597	NM_001100878.2(MROH6):c.1040C>T (p.Ala347Val)	MROH6 (A347V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295920	NM_001100878.2(MROH6):c.965C>T (p.Thr322Met)	MROH6 (T322M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206148	NM_001100878.2(MROH6):c.937A>T (p.Thr313Ser)	MROH6 (T313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206145	NM_001100878.2(MROH6):c.902C>G (p.Ala301Gly)	MROH6 (A301G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482280	NM_001100878.2(MROH6):c.880C>G (p.Arg294Gly)	MROH6 (R294G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369709	NM_001100878.2(MROH6):c.848C>T (p.Pro283Leu)	MROH6 (P283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474728	NM_001100878.2(MROH6):c.803C>A (p.Ala268Glu)	MROH6 (A268E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354746	NM_001100878.2(MROH6):c.803C>T (p.Ala268Val)	MROH6 (A268V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2555339	NM_001100878.2(MROH6):c.778G>A (p.Gly260Ser)	MROH6 (G260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516895	NM_001100878.2(MROH6):c.773C>T (p.Thr258Met)	MROH6 (T258M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351654	NM_001100878.2(MROH6):c.755C>T (p.Ser252Leu)	MROH6 (S252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206122	NM_001100878.2(MROH6):c.728G>A (p.Arg243His)	MROH6 (R243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206116	NM_001100878.2(MROH6):c.727C>T (p.Arg243Cys)	MROH6 (R243C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560167	NM_001100878.2(MROH6):c.688G>A (p.Gly230Ser)	MROH6 (G230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206110	NM_001100878.2(MROH6):c.662T>C (p.Leu221Pro)	MROH6 (L221P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226258	NM_001100878.2(MROH6):c.644G>A (p.Arg215His)	MROH6 (R215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206103	NM_001100878.2(MROH6):c.643C>T (p.Arg215Cys)	MROH6 (R215C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511506	NM_001100878.2(MROH6):c.634C>T (p.Arg212Cys)	MROH6 (R212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590066	NM_001100878.2(MROH6):c.628C>G (p.Leu210Val)	MROH6 (L210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295923	NM_001100878.2(MROH6):c.622C>A (p.Arg208Ser)	MROH6 (R208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206092	NM_001100878.2(MROH6):c.622C>T (p.Arg208Cys)	MROH6 (R208C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295925	NM_001100878.2(MROH6):c.621G>T (p.Trp207Cys)	MROH6 (W207C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206086	NM_001100878.2(MROH6):c.616C>A (p.Leu206Ile)	MROH6 (L206I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289073	NM_001100878.2(MROH6):c.600T>G (p.Asp200Glu)	MROH6 (D200E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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