MTMR11[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 2517435	NM_001145862.2(MTMR11):c.2119G>T (p.Asp707Tyr)	LOC129931383, MTMR11 (D707Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594927	NM_001145862.2(MTMR11):c.2056G>A (p.Asp686Asn)	MTMR11 (D614N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480303	NM_001145862.2(MTMR11):c.1856C>G (p.Pro619Arg)	MTMR11 (P547R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288083	NM_001145862.2(MTMR11):c.1808C>G (p.Ala603Gly)	MTMR11 (A603G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541705	NM_001145862.2(MTMR11):c.1784C>G (p.Pro595Arg)	MTMR11 (P523R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215858	NM_001145862.2(MTMR11):c.1780C>G (p.Arg594Gly)	MTMR11 (R594G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215855	NM_001145862.2(MTMR11):c.1745C>T (p.Pro582Leu)	MTMR11 (P510L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356049	NM_001145862.2(MTMR11):c.1735C>T (p.Arg579Trp)	MTMR11 (R507W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317447	NM_001145862.2(MTMR11):c.1723C>T (p.Leu575Phe)	MTMR11 (L503F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465242	NM_001145862.2(MTMR11):c.1459G>A (p.Gly487Arg)	MTMR11 (G415R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336919	NM_001145862.2(MTMR11):c.1219G>A (p.Val407Ile)	MTMR11 (V335I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528176	NM_001145862.2(MTMR11):c.1199T>G (p.Leu400Arg)	MTMR11 (L328R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266337	NM_001145862.2(MTMR11):c.1130G>C (p.Gly377Ala)	MTMR11 (G305A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593388	NM_001145862.2(MTMR11):c.1127G>A (p.Arg376His)	MTMR11 (R304H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602244	NM_001145862.2(MTMR11):c.1106G>A (p.Arg369His)	MTMR11 (R297H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218581	NM_001145862.2(MTMR11):c.1081T>G (p.Ser361Ala)	MTMR11 (S289A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400874	NM_001145862.2(MTMR11):c.1031C>T (p.Thr344Ile)	MTMR11 (T272I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328089	NM_001145862.2(MTMR11):c.1019C>T (p.Ala340Val)	MTMR11 (A268V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546126	NM_001145862.2(MTMR11):c.1009T>C (p.Trp337Arg)	MTMR11 (W265R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303849	NM_001145862.2(MTMR11):c.922G>A (p.Glu308Lys)	MTMR11 (E236K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533561	NM_001145862.2(MTMR11):c.884C>G (p.Ala295Gly)	MTMR11 (A223G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492608	NM_001145862.2(MTMR11):c.853G>T (p.Asp285Tyr)	MTMR11 (D285Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465227	NM_001145862.2(MTMR11):c.832G>C (p.Ala278Pro)	MTMR11 (A206P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526778	NM_001145862.2(MTMR11):c.763C>T (p.Arg255Cys)	MTMR11 (R183C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215912	NM_001145862.2(MTMR11):c.755A>T (p.His252Leu)	MTMR11 (H180L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341227	NM_001145862.2(MTMR11):c.746G>A (p.Gly249Asp)	MTMR11 (G177D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215908	NM_001145862.2(MTMR11):c.704T>A (p.Val235Asp)	MTMR11 (V163D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259363	NM_001145862.2(MTMR11):c.684C>G (p.Ser228Arg)	MTMR11 (S156R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215901	NM_001145862.2(MTMR11):c.653C>T (p.Thr218Met)	MTMR11 (T146M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521504	NM_001145862.2(MTMR11):c.616C>T (p.Arg206Trp)	MTMR11 (R134W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407621	NM_001145862.2(MTMR11):c.524C>T (p.Ser175Leu)	MTMR11 (S103L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616179	NM_001145862.2(MTMR11):c.502A>G (p.Ser168Gly)	MTMR11 (S168G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531116	NM_001145862.2(MTMR11):c.496G>A (p.Ala166Thr)	MTMR11 (A94T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514361	NM_001145862.2(MTMR11):c.473C>T (p.Thr158Ile)	MTMR11 (T158I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535960	NM_001145862.2(MTMR11):c.459G>T (p.Gln153His)	MTMR11 (Q153H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564458	NM_001145862.2(MTMR11):c.416G>A (p.Arg139Gln)	MTMR11 (R67Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516586	NM_001145862.2(MTMR11):c.415C>T (p.Arg139Trp)	MTMR11 (R139W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510592	NM_001145862.2(MTMR11):c.355C>T (p.Arg119Cys)	MTMR11 (R119C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215882	NM_001145862.2(MTMR11):c.331G>T (p.Gly111Cys)	MTMR11 (G39C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226049	NM_001145862.2(MTMR11):c.308T>C (p.Ile103Thr)	MTMR11 (I103T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215874	NM_001145862.2(MTMR11):c.287A>G (p.Tyr96Cys)	MTMR11 (Y96C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208541	NM_001145862.2(MTMR11):c.254A>G (p.Gln85Arg)	MTMR11 (Q85R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368076	NM_001145862.2(MTMR11):c.104G>A (p.Arg35His)	MTMR11 (R35H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333807	NM_001145862.2(MTMR11):c.103C>T (p.Arg35Cys)	MTMR11 (R35C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515981	NM_001145862.2(MTMR11):c.89C>T (p.Pro30Leu)	MTMR11 (P30L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329069	NM_001145862.2(MTMR11):c.17G>A (p.Arg6Gln)	MTMR11 (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230298	NM_001145862.2(MTMR11):c.7T>G (p.Trp3Gly)	MTMR11 (W3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062368	GRCh37/hg19 1q21.2-21.3(chr1:149713775-150385573)x1	ANP32E, APH1A +25 more	Copy number loss	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	ARHGEF2, ARNT +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 565179	GRCh37/hg19 1q21.2(chr1:149802401-149944241)x3	SF3B4, H2AC19 +12 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 393786	GRCh37/hg19 1q21.2(chr1:149895368-150130518)x1	MTMR11, OTUD7B +3 more	Copy number loss	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	FMO5, GABPB2 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 221417	GRCh37/hg19 1q21.2(chr1:149783688-150049029)x3	H2AC19, H2AC20 +15 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 61