MOXD1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +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 3295639	NM_015529.4(MOXD1):c.1417C>T (p.Pro473Ser)	MOXD1 (P473S)	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 3295643	NM_015529.4(MOXD1):c.923A>T (p.Tyr308Phe)	MOXD1 (Y308F)	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 3295640	NM_015529.4(MOXD1):c.760G>A (p.Gly254Ser)	MOXD1 (G254S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295641	NM_015529.4(MOXD1):c.758C>T (p.Ser253Phe)	MOXD1 (S253F)	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 3295642	NM_015529.4(MOXD1):c.200C>G (p.Thr67Ser)	LOC129997169, MOXD1 (T67S)	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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 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

Search results

Items: 58