MOXD1[gene] - ClinVar

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Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 2206036	NM_015529.4(MOXD1):c.1820C>T (p.Thr607Met)	MOXD1 (T607M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541486	NM_015529.4(MOXD1):c.1693G>T (p.Ala565Ser)	MOXD1 (A565S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201042	NM_015529.4(MOXD1):c.1676C>T (p.Ser559Leu)	MOXD1 (S559L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311986	NM_015529.4(MOXD1):c.1552C>T (p.Leu518Phe)	MOXD1 (L518F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617234	NM_015529.4(MOXD1):c.1501C>A (p.Pro501Thr)	MOXD1 (P501T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548040	NM_015529.4(MOXD1):c.1477A>T (p.Ile493Phe)	MOXD1 (I493F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245557	NM_015529.4(MOXD1):c.1433C>T (p.Thr478Ile)	MOXD1 (T478I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589166	NM_015529.4(MOXD1):c.1421G>T (p.Arg474Ile)	MOXD1 (R474I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274319	NM_015529.4(MOXD1):c.1405C>A (p.Leu469Ile)	MOXD1 (L469I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556544	NM_015529.4(MOXD1):c.1397T>A (p.Leu466His)	MOXD1 (L466H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589185	NM_015529.4(MOXD1):c.1376G>A (p.Ser459Asn)	MOXD1 (S459N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555451	NM_015529.4(MOXD1):c.1337A>G (p.Asn446Ser)	MOXD1 (N446S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591018	NM_015529.4(MOXD1):c.1330C>T (p.Arg444Cys)	MOXD1 (R444C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323372	NM_015529.4(MOXD1):c.1259A>G (p.Asn420Ser)	MOXD1 (N420S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613697	NM_015529.4(MOXD1):c.1250T>C (p.Phe417Ser)	MOXD1 (F417S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201013	NM_015529.4(MOXD1):c.1231C>T (p.Leu411Phe)	MOXD1 (L411F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201009	NM_015529.4(MOXD1):c.1208G>A (p.Arg403Gln)	MOXD1 (R403Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201005	NM_015529.4(MOXD1):c.1198C>A (p.Arg400Ser)	MOXD1 (R400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201000	NM_015529.4(MOXD1):c.1146T>A (p.His382Gln)	MOXD1 (H382Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200996	NM_015529.4(MOXD1):c.1106T>C (p.Leu369Pro)	MOXD1 (L369P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289617	NM_015529.4(MOXD1):c.1093A>T (p.Thr365Ser)	MOXD1 (T365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555502	NM_015529.4(MOXD1):c.1064T>C (p.Met355Thr)	MOXD1 (M355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381982	NM_015529.4(MOXD1):c.1057C>T (p.Pro353Ser)	MOXD1 (P353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200979	NM_015529.4(MOXD1):c.1009G>C (p.Gly337Arg)	MOXD1 (G337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588354	NM_015529.4(MOXD1):c.832A>G (p.Ile278Val)	MOXD1 (I278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394125	NM_015529.4(MOXD1):c.747C>A (p.Ser249Arg)	MOXD1 (S249R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525867	NM_015529.4(MOXD1):c.703C>T (p.His235Tyr)	MOXD1 (H235Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242516	NM_015529.4(MOXD1):c.650A>G (p.His217Arg)	MOXD1 (H217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390929	NM_015529.4(MOXD1):c.593A>G (p.Asn198Ser)	MOXD1 (N198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201057	NM_015529.4(MOXD1):c.380A>G (p.His127Arg)	MOXD1 (H127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313764	NM_015529.4(MOXD1):c.376C>A (p.Leu126Met)	MOXD1 (L126M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293842	NM_015529.4(MOXD1):c.281C>T (p.Ala94Val)	MOXD1 (A94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201023	NM_015529.4(MOXD1):c.137G>A (p.Ser46Asn)	MOXD1 (S46N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201021	NM_015529.4(MOXD1):c.133G>C (p.Gly45Arg)	MOXD1 (G45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295366	NM_015529.4(MOXD1):c.100G>A (p.Glu34Lys)	MOXD1 (E34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201086	NM_015529.4(MOXD1):c.86C>A (p.Thr29Asn)	MOXD1 (T29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208880	NM_015529.4(MOXD1):c.59G>A (p.Gly20Asp)	LOC129997170, MOXD1 (G20D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509029	NM_015529.4(MOXD1):c.55G>T (p.Gly19Trp)	LOC129997170, MOXD1 (G19W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330964	NM_015529.4(MOXD1):c.37C>T (p.Leu13Phe)	LOC129997170, MOXD1 (L13F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246194	NC_000006.11:g.(?_131894423)_(133849943_?)del	ARG1, CCN2 +19 more	Deletion	not provided	GPathogenic
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 1340932	GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1	AHI1, AKAP7 +30 more	Copy number loss	not provided	GPathogenic
Select item 687760	GRCh37/hg19 6q23.2(chr6:131673206-132706248)x1	ENPP1, ENPP3 +6 more	Copy number loss	not provided	GUncertain significance
Select item 625707	GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991)	ARG1, AKAP7 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 53