RMDN2[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 57240	GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)x3	ATL2, CDC42EP3 +66 more	Copy number gain	See cases	GUncertain significance
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 2605028	NM_001170791.3(RMDN2):c.11C>A (p.Ser4Tyr)	RMDN2 (S4Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365415	NM_001170791.3(RMDN2):c.78G>C (p.Trp26Cys)	RMDN2 (W26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615430	NM_001170791.3(RMDN2):c.111G>A (p.Met37Ile)	RMDN2 (M37I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314596	NM_001170791.3(RMDN2):c.332T>G (p.Leu111Arg)	RMDN2 (L111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229813	NM_001170791.3(RMDN2):c.344T>A (p.Ile115Lys)	RMDN2 (I115K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314598	NM_001170791.3(RMDN2):c.400A>G (p.Ile134Val)	RMDN2 (I134V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553378	NM_001170791.3(RMDN2):c.452+21520C>G	RMDN2, RMDN2-AS1 (Q12E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206224	NM_001170791.3(RMDN2):c.452+21539C>T	RMDN2, RMDN2-AS1 (S18F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351801	NM_001170791.3(RMDN2):c.452+21574C>T	RMDN2, RMDN2-AS1 (R30C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314600	NM_001170791.3(RMDN2):c.452+21575G>A	RMDN2, RMDN2-AS1 (R30H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2613382	NM_001170791.3(RMDN2):c.452+21587C>T	RMDN2, RMDN2-AS1 (S34F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314606	NM_001170791.3(RMDN2):c.452+21632C>T	RMDN2, RMDN2-AS1 (S49F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154783	NM_001170791.3(RMDN2):c.452+21643C>A	RMDN2, RMDN2-AS1 (H53N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495114	NM_001170791.3(RMDN2):c.452+21656C>A	RMDN2, RMDN2-AS1 (A57E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154785	NM_001170791.3(RMDN2):c.452+21702C>G	RMDN2, RMDN2-AS1 (F72L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593819	NM_001170791.3(RMDN2):c.452+21812A>G	RMDN2, RMDN2-AS1 (D109G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314605	NM_001170791.3(RMDN2):c.452+21821C>T	RMDN2, RMDN2-AS1 (S112F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222471	NM_001170791.3(RMDN2):c.452+21872C>G	RMDN2, RMDN2-AS1 (S129C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303868	NM_001170791.3(RMDN2):c.452+21884G>A	RMDN2, RMDN2-AS1 (S133N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279452	NM_001170791.3(RMDN2):c.452+21935G>A	RMDN2, RMDN2-AS1 (G150D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592640	NM_001170791.3(RMDN2):c.452+21946T>C	RMDN2, RMDN2-AS1 (F154L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154786	NM_001170791.3(RMDN2):c.452+21985A>G	RMDN2, RMDN2-AS1 (S167G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728218	NM_001170791.3(RMDN2):c.452+22005A>G	RMDN2, RMDN2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2402879	NM_001170791.3(RMDN2):c.452+22065C>G	RMDN2, RMDN2-AS1 (N193K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2271858	NM_001170791.3(RMDN2):c.452+22097A>T	RMDN2, RMDN2-AS1 (D204V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541329	NM_001170791.3(RMDN2):c.453-22139A>G	RMDN2, RMDN2-AS1 (N229S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786481	NM_001170791.3(RMDN2):c.453-22111G>A	RMDN2, RMDN2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2219557	NM_001170791.3(RMDN2):c.453-22056A>G	RMDN2, RMDN2-AS1 (S257G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154787	NM_001170791.3(RMDN2):c.453-22038A>G	RMDN2, RMDN2-AS1 (I263V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477012	NM_001170791.3(RMDN2):c.453-22019C>G	RMDN2, RMDN2-AS1 (P269R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614283	NM_001170791.3(RMDN2):c.453-22016C>G	RMDN2, RMDN2-AS1 (S270C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541558	NM_001170791.3(RMDN2):c.453-21943C>G	RMDN2, RMDN2-AS1 (I294M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154788	NM_001170791.3(RMDN2):c.453-21939C>T	RMDN2, RMDN2-AS1 (P296S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2301564	NM_001170791.3(RMDN2):c.453-21923C>T	RMDN2, RMDN2-AS1 (T301I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477997	NM_001170791.3(RMDN2):c.453-21891G>C	RMDN2, RMDN2-AS1 (V312L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314604	NM_001170791.3(RMDN2):c.453-21876G>A	RMDN2, RMDN2-AS1 (E317K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154790	NM_001170791.3(RMDN2):c.453-21853A>C	RMDN2, RMDN2-AS1 (E324D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314597	NM_001170791.3(RMDN2):c.453-21846A>G	RMDN2, RMDN2-AS1 (K327E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334152	NM_001170791.3(RMDN2):c.517C>T (p.Arg173Cys)	RMDN2, RMDN2-AS1 (R173C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238387	NM_001170791.3(RMDN2):c.556G>C (p.Val186Leu)	RMDN2, RMDN2-AS1 (V186L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550860	NM_001170791.3(RMDN2):c.610C>T (p.Arg204Cys)	RMDN2, RMDN2-AS1 (R204C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2269705	NM_001170791.3(RMDN2):c.615C>A (p.Asp205Glu)	RMDN2, RMDN2-AS1 (D205E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568555	NM_001170791.3(RMDN2):c.697A>G (p.Asn233Asp)	RMDN2, RMDN2-AS1 (N88D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614085	NM_001170791.3(RMDN2):c.761G>C (p.Arg254Thr)	RMDN2, RMDN2-AS1 (R254T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154780	NM_001170791.3(RMDN2):c.812A>G (p.Tyr271Cys)	RMDN2, RMDN2-AS1 (Y126C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314599	NM_001170791.3(RMDN2):c.822G>T (p.Glu274Asp)	RMDN2, RMDN2-AS1 (E274D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314603	NM_001170791.3(RMDN2):c.830G>A (p.Gly277Asp)	RMDN2, RMDN2-AS1 (G132D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240522	NM_001170791.3(RMDN2):c.846C>G (p.Ile282Met)	RMDN2, RMDN2-AS1 (I282M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515866	NM_001170791.3(RMDN2):c.877G>A (p.Asp293Asn)	RMDN2, RMDN2-AS1 (D148N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154781	NM_001170791.3(RMDN2):c.907C>G (p.Pro303Ala)	RMDN2, RMDN2-AS1 (P481A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154782	NM_001170791.3(RMDN2):c.933A>C (p.Arg311Ser)	RMDN2, RMDN2-AS1 (R311S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290495	NM_001170791.3(RMDN2):c.938G>T (p.Cys313Phe)	RMDN2, RMDN2-AS1 (C313F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523328	NM_001170791.3(RMDN2):c.1025C>G (p.Ala342Gly)	RMDN2, RMDN2-AS1 (A342G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462124	NM_001170791.3(RMDN2):c.1030C>T (p.His344Tyr)	RMDN2, RMDN2-AS1 (H199Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238234	NM_001170791.3(RMDN2):c.1038C>G (p.Phe346Leu)	RMDN2, RMDN2-AS1 (F524L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314602	NM_001170791.3(RMDN2):c.1058G>T (p.Cys353Phe)	RMDN2, RMDN2-AS1 (C353F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512456	NM_001170791.3(RMDN2):c.1165A>G (p.Thr389Ala)	RMDN2, RMDN2-AS1 (T389A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149115	GRCh38/hg38 2p22.2(chr2:38013370-38232603)x1	CYP1B1, CYP1B1-AS1 +6 more	Copy number loss	See cases	GUncertain significance
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062619	GRCh37/hg19 2p22.2(chr2:36971076-38294436)x3	CDC42EP3, CEBPZ +10 more	Copy number gain	not specified	GUncertain significance
Select item 2684442	GRCh37/hg19 2p22.2(chr2:38215539-38321179)x1	CYP1B1, RMDN2	Copy number loss	not provided	GUncertain significance
Select item 2425393	NC_000002.11:g.(?_37334416)_(39347563_?)dup	ARHGEF33, ATL2 +17 more	Duplication	RASopathy	GPathogenic
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526441	GRCh37/hg19 2p22.2(chr2:38206638-38332303)	CYP1B1, RMDN2	Copy number loss	not specified	GUncertain significance
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 979973	GRCh37/hg19 2p22.3-22.2(chr2:36432453-38182274)x3	CRIM1, SULT6B1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 979969	GRCh37/hg19 2p22.2-22.1(chr2:38154799-38849931)x1	HNRNPLL, RMDN2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 979968	GRCh37/hg19 2p22.2-22.1(chr2:38012532-39548268)x3	GALM, SRSF7 +12 more	Copy number gain	not provided	GUncertain significance
Select item 814235	GRCh37/hg19 2p22.2(chr2:38059333-38261030)x3	RMDN2	Copy number gain	not provided	GUncertain significance
Select item 688044	GRCh37/hg19 2p22.2(chr2:38291099-38373417)x1	CYP1B1, RMDN2	Copy number loss	not provided	GUncertain significance
Select item 686815	GRCh37/hg19 2p22.2(chr2:38291099-38359165)x1	CYP1B1, RMDN2	Copy number loss	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 562521	GRCh37/hg19 2p22.2(chr2:38232794-38359795)x1	RMDN2, CYP1B1	Copy number loss	not provided	GUncertain significance
Select item 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441634	GRCh37/hg19 2p22.2(chr2:38092623-38340684)x1	CYP1B1, RMDN2	Copy number loss	See cases	GUncertain significance
Select item 429039	NC_000002.11:g.38121110_47669522inv	HNRNPLL, KCNG3 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic

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Items: 90