"GeneDx"[submitter] AND "RMND1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1267543	NM_017909.4(RMND1):c.*361AAAT[5]	RMND1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1241989	NM_017909.4(RMND1):c.*195C>A	RMND1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1258064	NM_017909.4(RMND1):c.*70C>G	RMND1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 138915	NM_017909.4(RMND1):c.1349G>A (p.Ter450=)	RMND1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 511016	NM_017909.4(RMND1):c.1335A>G (p.Gly445=)	RMND1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1215831	NM_017909.4(RMND1):c.1321A>C (p.Met441Leu)	RMND1 (M271L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1291373	NM_017909.4(RMND1):c.1317+99A>G	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187784	NM_017909.4(RMND1):c.1317+96C>G	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185959	NM_017909.4(RMND1):c.1317+57del	RMND1	Deletion (intron variant)	not provided	GLikely benign
Select item 1223720	NM_017909.4(RMND1):c.1317+26G>A	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 714404	NM_017909.4(RMND1):c.1209T>C (p.Asn403=)	RMND1	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 11 +1 more	GBenign/Likely benign
Select item 1212155	NM_017909.4(RMND1):c.1201-132_1201-131del	RMND1	Deletion (intron variant)	not provided	GLikely benign
Select item 1202770	NM_017909.4(RMND1):c.1201-237T>C	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194779	NM_017909.4(RMND1):c.1201-283A>G	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683666	NM_017909.4(RMND1):c.1200+283T>C	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203706	NM_017909.4(RMND1):c.1200+44G>A	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671673	NM_017909.4(RMND1):c.1200+38G>A	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235916	NM_017909.4(RMND1):c.1200+4C>T	RMND1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1342046	NM_017909.4(RMND1):c.1098T>G (p.Ser366Arg)	RMND1 (S196R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 440932	NM_017909.4(RMND1):c.1085G>A (p.Arg362His)	RMND1 (R362H +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11 +1 more	GConflicting classifications of pathogenicity
Select item 673675	NM_017909.4(RMND1):c.1080-32T>C	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291372	NM_017909.4(RMND1):c.1080-94del	RMND1	Deletion (intron variant)	not provided	GBenign
Select item 1291981	NM_017909.4(RMND1):c.1080-320T>C	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452656	NM_017909.4(RMND1):c.1003-2_1003-1insATG	RMND1	Insertion (splice acceptor variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1292070	NM_017909.4(RMND1):c.1003-85A>G	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675542	NM_017909.4(RMND1):c.1003-86C>T	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273652	NM_017909.4(RMND1):c.1002+264_1002+267del	RMND1	Deletion (intron variant)	not provided	GBenign
Select item 1244772	NM_017909.4(RMND1):c.1002+47T>G	RMND1	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 11 +1 more	GBenign
Select item 512667	NM_017909.4(RMND1):c.1002+15T>C	RMND1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1310501	NM_017909.4(RMND1):c.1002+3A>C	RMND1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 420535	NM_017909.4(RMND1):c.938-6dup	RMND1	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1190777	NM_017909.4(RMND1):c.938-198A>G	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283906	NM_017909.4(RMND1):c.938-208T>C	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210836	NM_017909.4(RMND1):c.937+257T>G	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516118	NM_017909.4(RMND1):c.937+11A>G	RMND1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 450643	NM_017909.4(RMND1):c.899T>C (p.Leu300Pro)	RMND1 (L300P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138914	NM_017909.4(RMND1):c.858A>T (p.Glu286Asp)	RMND1 (E286D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1254910	NM_017909.4(RMND1):c.852G>C (p.Arg284Ser)	RMND1 (R114S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1251012	NM_017909.4(RMND1):c.831-45G>T	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202339	NM_017909.4(RMND1):c.831-173dup	RMND1	Duplication (intron variant)	not provided	GLikely benign
Select item 1260195	NM_017909.4(RMND1):c.831-236dup	RMND1	Duplication (intron variant)	not provided	GBenign
Select item 1221047	NM_017909.4(RMND1):c.831-221del	RMND1	Deletion (intron variant)	not provided	GBenign
Select item 674151	NM_017909.4(RMND1):c.831-256C>T	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273730	NM_017909.4(RMND1):c.830+297C>T	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283511	NM_017909.4(RMND1):c.830+283T>C	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268618	NM_017909.4(RMND1):c.830+106del	RMND1	Deletion (intron variant)	not provided	GBenign
Select item 1446903	NM_017909.4(RMND1):c.795C>G (p.His265Gln)	RMND1 (H265Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 769698	NM_017909.4(RMND1):c.794A>G (p.His265Arg)	RMND1 (H95R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 138913	NM_017909.4(RMND1):c.783C>T (p.Ile261=)	RMND1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1211829	NM_017909.4(RMND1):c.730-91G>T	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218147	NM_017909.4(RMND1):c.730-221C>A	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671570	NM_017909.4(RMND1):c.730-278A>G	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669561	NM_017909.4(RMND1):c.729+313G>A	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208627	NM_017909.4(RMND1):c.729+236C>T	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017886	NM_017909.4(RMND1):c.729+1_729+2del	RMND1	Deletion (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 225255	NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)	RMND1 (N238S +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11 +3 more	GConflicting classifications of pathogenicity
Select item 2430969	NM_017909.4(RMND1):c.702T>A (p.Ala234=)	RMND1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 682216	NM_017909.4(RMND1):c.690-14T>C	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 506866	NM_017909.4(RMND1):c.690-20C>G	RMND1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1223498	NM_017909.4(RMND1):c.690-100G>A	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674150	NM_017909.4(RMND1):c.689+295C>T	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282460	NM_017909.4(RMND1):c.689+232C>T	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138912	NM_017909.4(RMND1):c.689+17A>G	RMND1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1696897	NM_017909.4(RMND1):c.661G>C (p.Gly221Arg)	RMND1 (G221R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 676660	NM_017909.4(RMND1):c.614-62G>A	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674149	NM_017909.4(RMND1):c.614-207T>G	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259062	NM_017909.4(RMND1):c.613+335dup	RMND1	Duplication (intron variant)	not provided	GBenign
Select item 1263866	NM_017909.4(RMND1):c.613+320dup	RMND1	Duplication (intron variant)	not provided	GBenign
Select item 1289311	NM_017909.4(RMND1):c.613+333del	RMND1	Deletion (intron variant)	not provided	GBenign
Select item 1206459	NM_017909.4(RMND1):c.613+330_613+331insG	RMND1	Insertion (intron variant)	not provided	GLikely benign
Select item 1247626	NM_017909.4(RMND1):c.613+330T>G	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232041	NM_017909.4(RMND1):c.613+329T>G	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683663	NM_017909.4(RMND1):c.613+254A>G	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225361	NM_017909.4(RMND1):c.613+249A>G	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 515625	NM_017909.4(RMND1):c.582C>T (p.His194=)	RMND1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 680172	NM_017909.4(RMND1):c.561G>A (p.Leu187=)	RMND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 681596	NM_017909.4(RMND1):c.534G>A (p.Thr178=)	RMND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 676325	NM_017909.4(RMND1):c.505-56G>A	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195716	NM_017909.4(RMND1):c.505-218G>A	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237978	NM_017909.4(RMND1):c.505-271C>T	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683661	NM_017909.4(RMND1):c.505-343_505-341dup	RMND1	Duplication (intron variant)	not provided	GBenign
Select item 1190000	NM_017909.4(RMND1):c.504+321_504+324del	RMND1	Deletion (intron variant)	not provided	GLikely benign
Select item 683659	NM_017909.4(RMND1):c.504+281A>G	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683657	NM_017909.4(RMND1):c.504+244T>C	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673482	NM_017909.4(RMND1):c.504+46C>T	RMND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 450642	NM_017909.4(RMND1):c.494_497del (p.Leu164_Ser165insTer)	RMND1	Microsatellite (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2581738	NM_017909.4(RMND1):c.493T>C (p.Ser165Pro)	RMND1 (S165P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 280833	NM_017909.4(RMND1):c.485del (p.Pro162fs)	RMND1 (P162fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 138919	NM_017909.4(RMND1):c.447A>G (p.Lys149=)	RMND1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3253215	NM_017909.4(RMND1):c.439C>T (p.Pro147Ser)	RMND1 (P147S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2135996	NM_017909.4(RMND1):c.434_436del (p.Lys145del)	RMND1 (K145del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 138918	NM_017909.4(RMND1):c.395C>T (p.Thr132Met)	RMND1 (T132M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1083505	NM_017909.4(RMND1):c.320T>A (p.Val107Glu)	RMND1 (V107E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 452667	NM_017909.4(RMND1):c.291del (p.Thr97_Met98insTer)	RMND1	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1331234	NM_017909.4(RMND1):c.289A>G (p.Thr97Ala)	RMND1 (T97A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1366720	NM_017909.4(RMND1):c.260G>A (p.Arg87His)	RMND1 (R87H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 742871	NM_017909.4(RMND1):c.201C>A (p.Ile67=)	RMND1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 377296	NM_017909.4(RMND1):c.140G>A (p.Arg47His)	RMND1 (R47H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 138917	NM_017909.4(RMND1):c.125G>T (p.Ser42Ile)	RMND1 (S42I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 992885	NM_017909.4(RMND1):c.87del (p.Met29fs)	RMND1 (M29fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic

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