ClinVar for Gene (Select 389690) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295915	NM_207414.2(MROH5):c.3292G>A	LOC107983985, MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295914	NM_207414.2(MROH5):c.1304G>T	MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295913	NM_207414.2(MROH5):c.2902G>C	MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295912	NM_207414.2(MROH5):c.201C>G	MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295911	NM_207414.2(MROH5):c.3328C>T	LOC107983985, MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295908	NM_207414.2(MROH5):c.2921C>A	MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295907	NM_207414.2(MROH5):c.2087G>C	MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295906	NM_207414.2(MROH5):c.3251C>A	LOC107983985, MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295905	NM_207414.2(MROH5):c.3035C>G	MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295904	NM_207414.2(MROH5):c.515T>C	MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295903	NM_207414.2(MROH5):c.3508G>A	LOC107983985, MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295902	NM_207414.2(MROH5):c.2770C>A	MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295901	NM_207414.2(MROH5):c.3310G>A	LOC107983985, MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295900	NM_207414.2(MROH5):c.770C>T	MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295898	NM_207414.2(MROH5):c.2672G>A	MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295897	NM_207414.2(MROH5):c.407A>T	MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295896	NM_207414.2(MROH5):c.1610G>C	MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3295895	NM_207414.2(MROH5):c.2420G>A	MROH5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3205865	NM_207414.3(MROH5):c.994G>C (p.Gly332Arg)	MROH5 (G332R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205860	NM_207414.3(MROH5):c.92C>G (p.Pro31Arg)	MROH5 (P31R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205854	NM_207414.3(MROH5):c.723G>T (p.Lys241Asn)	MROH5 (K241N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205846	NM_207414.3(MROH5):c.673G>A (p.Val225Met)	MROH5 (V225M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205827	NM_207414.3(MROH5):c.44C>T (p.Thr15Met)	MROH5 (T15M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205809	NM_207414.3(MROH5):c.3896G>A (p.Arg1299Gln)	MROH5 (R1299Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205792	NM_207414.3(MROH5):c.3821T>A (p.Met1274Lys)	MROH5 (M1274K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205775	NM_207414.3(MROH5):c.3655C>T (p.Arg1219Cys)	LOC107983985, MROH5 (R1219C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3205765	NM_207414.3(MROH5):c.3485G>A (p.Arg1162Gln)	LOC107983985, MROH5 (R1162Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3205742	NM_207414.3(MROH5):c.3383G>A (p.Arg1128His)	LOC107983985, MROH5 (R1128H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205735	NM_207414.3(MROH5):c.3364G>C (p.Gly1122Arg)	LOC107983985, MROH5 (G1122R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205724	NM_207414.3(MROH5):c.3316G>C (p.Asp1106His)	LOC107983985, MROH5 (D1106H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205718	NM_207414.3(MROH5):c.3308C>T (p.Thr1103Ile)	LOC107983985, MROH5 (T1103I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205704	NM_207414.3(MROH5):c.3263G>T (p.Gly1088Val)	LOC107983985, MROH5 (G1088V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205674	NM_207414.3(MROH5):c.3133G>A (p.Val1045Met)	MROH5 (V1045M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205673	NM_207414.3(MROH5):c.3076A>G (p.Lys1026Glu)	MROH5 (K1026E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205626	NM_207414.3(MROH5):c.2569C>T (p.Pro857Ser)	MROH5 (P857S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205622	NM_207414.3(MROH5):c.2551G>C (p.Ala851Pro)	MROH5 (A851P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205609	NM_207414.3(MROH5):c.245G>T (p.Gly82Val)	MROH5 (G82V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205602	NM_207414.3(MROH5):c.2413C>A (p.Leu805Met)	MROH5 (L805M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205595	NM_207414.3(MROH5):c.2293G>A (p.Val765Ile)	MROH5 (V765I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205594	NM_207414.3(MROH5):c.228G>T (p.Glu76Asp)	MROH5 (E76D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205589	NM_207414.3(MROH5):c.2275G>A (p.Glu759Lys)	MROH5 (E759K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205584	NM_207414.3(MROH5):c.2080T>G (p.Trp694Gly)	MROH5 (W694G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205579	NM_207414.3(MROH5):c.2018T>C (p.Leu673Ser)	MROH5 (L673S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205571	NM_207414.3(MROH5):c.1952G>A (p.Arg651His)	MROH5 (R651H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205556	NM_207414.3(MROH5):c.1853A>G (p.His618Arg)	MROH5 (H618R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205554	NM_207414.3(MROH5):c.1811G>A (p.Arg604Gln)	MROH5 (R604Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205516	NM_207414.3(MROH5):c.1412G>A (p.Arg471His)	MROH5 (R471H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205507	NM_207414.3(MROH5):c.1403C>T (p.Thr468Met)	MROH5 (T468M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205502	NM_207414.3(MROH5):c.1390G>A (p.Asp464Asn)	MROH5 (D464N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205499	NM_207414.3(MROH5):c.1373T>C (p.Met458Thr)	MROH5 (M458T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205494	NM_207414.3(MROH5):c.1364T>C (p.Met455Thr)	MROH5 (M455T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205488	NM_207414.3(MROH5):c.1327G>A (p.Glu443Lys)	MROH5 (E443K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205478	NM_207414.3(MROH5):c.1235G>C (p.Ser412Thr)	MROH5 (S412T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205467	NM_207414.3(MROH5):c.1171C>T (p.Arg391Trp)	MROH5 (R391W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205446	NM_207414.3(MROH5):c.1033G>A (p.Val345Ile)	MROH5 (V345I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2685045	GRCh37/hg19 8q24.3(chr8:141825923-142558013)x4	DENND3, GPR20 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684557	GRCh37/hg19 8q24.3(chr8:142452829-142859811)x3	MROH5	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2658878	NM_207414.3(MROH5):c.1591G>A (p.Val531Met)	MROH5 (V531M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2619466	NM_207414.3(MROH5):c.2951G>T (p.Gly984Val)	MROH5 (G984V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614478	NM_207414.3(MROH5):c.303C>A (p.Asp101Glu)	MROH5 (D101E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610581	NM_207414.3(MROH5):c.1535C>T (p.Ala512Val)	MROH5 (A512V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2606085	NM_207414.3(MROH5):c.1973G>A (p.Ser658Asn)	MROH5 (S658N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599647	NM_207414.3(MROH5):c.3938C>T (p.Ser1313Leu)	MROH5 (S1313L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594440	NM_207414.3(MROH5):c.1315G>A (p.Ala439Thr)	MROH5 (A439T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593513	NM_207414.3(MROH5):c.2581G>A (p.Gly861Ser)	MROH5 (G861S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2591177	NM_207414.3(MROH5):c.2671C>T (p.Arg891Trp)	MROH5 (R891W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2578018	GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	SLA, TRAPPC9 +29 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2569950	NM_207414.3(MROH5):c.122G>T (p.Cys41Phe)	MROH5 (C41F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568703	NM_207414.3(MROH5):c.430C>T (p.Arg144Trp)	MROH5 (R144W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552984	NM_207414.3(MROH5):c.1147T>C (p.Tyr383His)	MROH5 (Y383H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537999	NM_207414.3(MROH5):c.3455C>A (p.Ala1152Asp)	LOC107983985, MROH5 (A1152D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537533	NM_207414.3(MROH5):c.1009C>G (p.Arg337Gly)	MROH5 (R337G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536755	NM_207414.3(MROH5):c.3419C>T (p.Ala1140Val)	LOC107983985, MROH5 (A1140V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530614	NM_207414.3(MROH5):c.1120T>A (p.Trp374Arg)	MROH5 (W374R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519531	NM_207414.3(MROH5):c.2003A>G (p.Lys668Arg)	MROH5 (K668R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2518786	NM_207414.3(MROH5):c.2674G>A (p.Glu892Lys)	MROH5 (E892K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518630	NM_207414.3(MROH5):c.1107C>A (p.Asp369Glu)	MROH5 (D369E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517398	NM_207414.3(MROH5):c.37A>G (p.Thr13Ala)	MROH5 (T13A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514276	NM_207414.3(MROH5):c.605G>A (p.Arg202Gln)	MROH5 (R202Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2512805	NM_207414.3(MROH5):c.460G>A (p.Gly154Arg)	MROH5 (G154R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2512551	NM_207414.3(MROH5):c.3173G>A (p.Arg1058His)	MROH5 (R1058H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510657	NM_207414.3(MROH5):c.3443A>T (p.Asp1148Val)	LOC107983985, MROH5 (D1148V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507778	NM_207414.3(MROH5):c.2419C>T (p.Arg807Trp)	MROH5 (R807W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492374	NM_207414.3(MROH5):c.2499G>T (p.Arg833Ser)	MROH5 (R833S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491216	NM_207414.3(MROH5):c.559G>A (p.Asp187Asn)	MROH5 (D187N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486049	NM_207414.3(MROH5):c.3765G>C (p.Trp1255Cys)	MROH5 (W1255C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477198	NM_207414.3(MROH5):c.2584G>A (p.Ala862Thr)	MROH5 (A862T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476279	NM_207414.3(MROH5):c.3329G>A (p.Arg1110His)	LOC107983985, MROH5 (R1110H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476125	NM_207414.3(MROH5):c.3823C>A (p.Leu1275Met)	MROH5 (L1275M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473728	NM_207414.3(MROH5):c.2522C>T (p.Thr841Met)	MROH5 (T841M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466615	NM_207414.3(MROH5):c.3154G>A (p.Asp1052Asn)	MROH5 (D1052N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462774	NM_207414.3(MROH5):c.3577C>T (p.Arg1193Cys)	LOC107983985, MROH5 (R1193C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461957	NM_207414.3(MROH5):c.2864C>T (p.Thr955Met)	MROH5 (T955M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455936	NM_207414.3(MROH5):c.91C>T (p.Pro31Ser)	MROH5 (P31S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454771	NM_207414.3(MROH5):c.3854G>A (p.Arg1285His)	MROH5 (R1285H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412538	NM_207414.3(MROH5):c.2924C>T (p.Thr975Ile)	MROH5 (T975I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411829	NM_207414.3(MROH5):c.3710A>G (p.His1237Arg)	MROH5 (H1237R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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