MON1B[gene] - ClinVar

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Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 146126	GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1	ADAMTS18, ADAT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 148953	GRCh38/hg38 16q23.1(chr16:76680652-77199749)x4	LOC126862404, LOC126862405 +16 more	Copy number gain	See cases	GUncertain significance
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 60024	GRCh38/hg38 16q23.1(chr16:76877375-77933220)x3	ADAMTS18, LINC02131 +25 more	Copy number gain	See cases	GUncertain significance
Select item 3295549	NM_014940.4(MON1B):c.35C>G (p.Pro12Arg)	MON1B (P12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596904	NM_014940.4(MON1B):c.52T>A (p.Leu18Met)	MON1B (L18M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241636	NM_014940.4(MON1B):c.67T>G (p.Phe23Val)	MON1B (F23V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511930	NM_014940.4(MON1B):c.116C>G (p.Pro39Arg)	MON1B (P39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295547	NM_014940.4(MON1B):c.130G>A (p.Glu44Lys)	MON1B (E44K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212584	NM_014940.4(MON1B):c.178C>G (p.Pro60Ala)	MON1B (P60A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616375	NM_014940.4(MON1B):c.242C>T (p.Pro81Leu)	MON1B (P81L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197879	NM_014940.4(MON1B):c.265C>T (p.Pro89Ser)	MON1B (P89S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246076	NM_014940.4(MON1B):c.275G>C (p.Ser92Thr)	MON1B (S92T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197937	NM_014940.4(MON1B):c.316C>T (p.Arg106Cys)	MON1B (R106C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621228	NM_014940.4(MON1B):c.326G>A (p.Arg109Gln)	MON1B (R109Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198011	NM_014940.4(MON1B):c.397T>A (p.Ser133Thr)	MON1B (S133T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231922	NM_014940.4(MON1B):c.472G>A (p.Ala158Thr)	MON1B (A158T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458400	NM_014940.4(MON1B):c.533G>A (p.Arg178Gln)	MON1B (R32Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198135	NM_014940.4(MON1B):c.535A>G (p.Thr179Ala)	MON1B (T179A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338830	NM_014940.4(MON1B):c.592G>T (p.Val198Leu)	MON1B (V198L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198203	NM_014940.4(MON1B):c.619G>A (p.Ala207Thr)	MON1B (A98T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325505	NM_014940.4(MON1B):c.620C>T (p.Ala207Val)	MON1B (A98V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288321	NM_014940.4(MON1B):c.755C>G (p.Pro252Arg)	MON1B (P106R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295550	NM_014940.4(MON1B):c.773G>A (p.Arg258Gln)	MON1B (R112Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480874	NM_014940.4(MON1B):c.1012G>A (p.Ala338Thr)	MON1B (A192T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197431	NM_014940.4(MON1B):c.1031A>G (p.Asp344Gly)	MON1B (D198G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235389	NM_014940.4(MON1B):c.1034C>T (p.Ala345Val)	MON1B (A199V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334647	NM_014940.4(MON1B):c.1142G>A (p.Arg381His)	MON1B (R381H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239467	NM_014940.4(MON1B):c.1208A>G (p.Gln403Arg)	MON1B (Q403R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296450	NM_014940.4(MON1B):c.1223C>T (p.Pro408Leu)	MON1B (P299L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479980	NM_014940.4(MON1B):c.1234C>T (p.His412Tyr)	MON1B (H266Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364268	NM_014940.4(MON1B):c.1360C>T (p.Arg454Cys)	MON1B (R308C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395534	NM_014940.4(MON1B):c.1397T>C (p.Leu466Pro)	MON1B (L357P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197715	NM_014940.4(MON1B):c.1423A>C (p.Lys475Gln)	MON1B (K366Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615690	NM_014940.4(MON1B):c.1459G>A (p.Glu487Lys)	MON1B (E341K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537323	NM_014940.4(MON1B):c.1551C>G (p.Asp517Glu)	MON1B (D408E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255086	NM_014940.4(MON1B):c.1588C>T (p.Pro530Ser)	MON1B (P384S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476179	NM_001129979.3(SYCE1L):c.4G>A (p.Ala2Thr)	MON1B, SYCE1L (A2T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 684734	NM_001129979.3(SYCE1L):c.22C>G (p.Leu8Val)	MON1B, SYCE1L (L8V)	Single nucleotide variant (missense variant +1 more)	Non-obstructive azoospermia +1 more	GBenign/Likely benign
Select item 2271560	NM_001129979.3(SYCE1L):c.38C>T (p.Pro13Leu)	MON1B, SYCE1L (P13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063470	GRCh37/hg19 16q23.1(chr16:75947360-78217943)x3	ADAMTS18, CLEC3A +6 more	Copy number gain	not specified	GUncertain significance
Select item 2684820	GRCh37/hg19 16q23.1(chr16:77075284-78151019)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684818	GRCh37/hg19 16q23.1(chr16:76969076-78821137)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1809453	GRCh37/hg19 16q23.1(chr16:76472469-77366668)x3	ADAMTS18, CNTNAP4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1809401	GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1	ADAMTS18, ADAT1 +29 more	Copy number loss	not provided	GUncertain significance
Select item 1809361	GRCh37/hg19 16q23.1(chr16:77231747-77285850)x1	MON1B, SYCE1L	Copy number loss	not provided	GUncertain significance
Select item 1808954	GRCh37/hg19 16q23.1(chr16:77127830-79168848)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526523	GRCh37/hg19 16q23.1(chr16:77002833-77679190)	ADAMTS18, MON1B +1 more	Copy number gain	not specified	GUncertain significance
Select item 1025602	NC_000016.9:g.(?_77225119)_(77401620_?)dup	ADAMTS18, MON1B +1 more	Duplication	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815839	GRCh37/hg19 16q23.1(chr16:77191839-77856232)x1	MON1B, ADAMTS18 +3 more	Copy number loss	not provided	GUncertain significance
Select item 815838	GRCh37/hg19 16q23.1(chr16:77112563-79015106)x3	CLEC3A, WWOX +5 more	Copy number gain	not provided	GUncertain significance
Select item 815837	GRCh37/hg19 16q23.1(chr16:77004778-77672338)x3	ADAMTS18, SYCE1L +1 more	Copy number gain	not provided	GUncertain significance
Select item 688615	GRCh37/hg19 16q23.1(chr16:77067527-78159698)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	not provided	GUncertain significance
Select item 686376	GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1	ADAMTS18, ADAT1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 564349	GRCh37/hg19 16q23.1(chr16:77087399-78395997)x3	ADAMTS18, MON1B +5 more	Copy number gain	not provided	GUncertain significance
Select item 564348	GRCh37/hg19 16q23.1(chr16:76955286-79080596)x3	MON1B, VAT1L +5 more	Copy number gain	not provided	GUncertain significance
Select item 564347	GRCh37/hg19 16q23.1(chr16:76472468-77369927)x3	CNTNAP4, MON1B +2 more	Copy number gain	not provided	GUncertain significance
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443160	GRCh37/hg19 16q23.1(chr16:77031380-78324120)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	See cases	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443125	GRCh37/hg19 16q23.1(chr16:76820552-77914926)x3	ADAMTS18, MON1B +3 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 442207	GRCh37/hg19 16q23.1(chr16:77157651-78354060)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	See cases	GUncertain significance
Select item 441549	GRCh37/hg19 16q23.1(chr16:77002833-77338842)x3	ADAMTS18, MON1B +1 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218968	t(5;16)(p15.31;q23.1)	C16orf46, C16orf74 +150 more	Translocation	not provided	GLikely pathogenic

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Items: 91