RMND1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 59801	GRCh38/hg38 6q25.1(chr6:151369093-151518210)x3	ARMT1, CCDC170 +10 more	Copy number gain	See cases	GBenign
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 143051	NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)	RMND1	Single nucleotide variant (stop lost)	Combined oxidative phosphorylation defect type 11 +1 more	GConflicting classifications of pathogenicity
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 522120	NM_017909.4(RMND1):c.1348T>C (p.Ter450Arg)	RMND1	Single nucleotide variant (stop lost)	Inborn genetic diseases	GLikely pathogenic
Select item 2157296	NM_017909.4(RMND1):c.1339G>A (p.Val447Ile)	RMND1 (V277I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3154815	NM_017909.4(RMND1):c.1337G>A (p.Arg446Gln)	RMND1 (R446Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 511016	NM_017909.4(RMND1):c.1335A>G (p.Gly445=)	RMND1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1360908	NM_017909.4(RMND1):c.1323G>A (p.Met441Ile)	RMND1 (M271I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1032011	NM_017909.4(RMND1):c.1318-11T>C	RMND1	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 11 +1 more	GUncertain significance
Select item 1637570	NM_017909.4(RMND1):c.1318-16_1318-13del	RMND1	Deletion (intron variant)	not provided	GLikely 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 1895771	NM_017909.4(RMND1):c.1317+19_1317+22del	RMND1	Deletion (intron variant)	not provided	GLikely benign
Select item 1908253	NM_017909.4(RMND1):c.1317+19_1317+20del	RMND1	Deletion (intron variant)	not provided	GLikely benign
Select item 3011432	NM_017909.4(RMND1):c.1317+14G>C	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1618500	NM_017909.4(RMND1):c.1317+12A>G	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928466	NM_017909.4(RMND1):c.1317+6A>G	RMND1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2242845	NM_017909.4(RMND1):c.1317+3A>C	RMND1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 225259	NM_017909.4(RMND1):c.1317+1G>T	RMND1	Single nucleotide variant (splice donor variant)	Mitochondrial disease	GPathogenic
Select item 225256	NM_017909.4(RMND1):c.1303C>T (p.Leu435Phe)	RMND1 (L435F +1 more)	Single nucleotide variant (missense variant)	Mitochondrial disease	GPathogenic
Select item 1371899	NM_017909.4(RMND1):c.1295T>C (p.Ile432Thr)	RMND1 (I262T +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11 +1 more	GUncertain significance
Select item 1468396	NM_017909.4(RMND1):c.1289G>C (p.Trp430Ser)	RMND1 (W260S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 666266	NM_017909.4(RMND1):c.1286A>T (p.Glu429Val)	RMND1 (E259V +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11	GUncertain significance
Select item 1297736	NM_017909.4(RMND1):c.1280G>A (p.Arg427His)	RMND1 (R257H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414239	NM_017909.4(RMND1):c.1270A>C (p.Arg424=)	RMND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2028797	NM_017909.4(RMND1):c.1254dup (p.His419fs)	RMND1 (H249fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 39765	NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln)	RMND1 (R417Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1512173	NM_017909.4(RMND1):c.1247T>C (p.Met416Thr)	RMND1 (M246T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917894	NM_017909.4(RMND1):c.1243C>G (p.Leu415Val)	RMND1 (L415V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098414	NM_017909.4(RMND1):c.1242T>C (p.Asp414=)	RMND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110406	NM_017909.4(RMND1):c.1238C>A (p.Thr413Lys)	RMND1 (T413K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387810	NM_017909.4(RMND1):c.1235_1238del (p.Leu412fs)	RMND1 (L242fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2103272	NM_017909.4(RMND1):c.1229T>C (p.Met410Thr)	RMND1 (M240T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349886	NM_017909.4(RMND1):c.1210G>A (p.Glu404Lys)	RMND1 (E404K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1967790	NM_017909.4(RMND1):c.1201-4A>G	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020959	NM_017909.4(RMND1):c.1201-10T>C	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1371593	NM_017909.4(RMND1):c.1201-14T>G	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely 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 1960607	NM_017909.4(RMND1):c.1200+1G>A	RMND1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1917478	NM_017909.4(RMND1):c.1190G>A (p.Arg397Gln)	RMND1 (R227Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 735961	NM_017909.4(RMND1):c.1167G>A (p.Thr389=)	RMND1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1496042	NM_017909.4(RMND1):c.1159G>C (p.Asp387His)	RMND1 (D217H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 764230	NM_017909.4(RMND1):c.1158C>T (p.Tyr386=)	RMND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904952	NM_017909.4(RMND1):c.1152A>G (p.Gly384=)	RMND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605566	NM_017909.4(RMND1):c.1120G>C (p.Asp374His)	RMND1 (D204H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1941533	NM_017909.4(RMND1):c.1117C>G (p.Pro373Ala)	RMND1 (P203A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1974729	NM_017909.4(RMND1):c.1094_1095insA (p.Ser366fs)	RMND1 (S196fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
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 1414134	NM_017909.4(RMND1):c.1084C>T (p.Arg362Cys)	RMND1 (R362C +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11 +1 more	GUncertain significance
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 1651513	NM_017909.4(RMND1):c.1077A>G (p.Leu359=)	RMND1	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 11 +1 more	GLikely benign
Select item 1993451	NM_017909.4(RMND1):c.1062T>C (p.Gly354=)	RMND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 666265	NM_017909.4(RMND1):c.1049T>C (p.Met350Thr)	RMND1 (M350T +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11	GUncertain significance
Select item 1032010	NM_017909.4(RMND1):c.1039G>A (p.Glu347Lys)	RMND1 (E347K +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11 +1 more	GUncertain significance
Select item 374907	NC_000006.12:g.151421322del	RMND1	Deletion	Combined oxidative phosphorylation defect type 11	GPathogenic
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 2996274	NM_017909.4(RMND1):c.1003-13C>G	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989314	NM_017909.4(RMND1):c.1003-17_1003-16delinsTT	RMND1	Indel (intron variant)	not provided	GUncertain significance
Select item 2984674	NM_017909.4(RMND1):c.1003-17G>A	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670386	NM_017909.4(RMND1):c.1003-17G>C	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2957920	NM_017909.4(RMND1):c.1002+18A>T	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1973935	NM_017909.4(RMND1):c.1002+10T>C	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657923	NM_017909.4(RMND1):c.1002+7A>G	RMND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898190	NM_017909.4(RMND1):c.1002+6T>C	RMND1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2114265	NM_017909.4(RMND1):c.1002G>T (p.Glu334Asp)	RMND1 (E334D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904813	NM_017909.4(RMND1):c.994A>G (p.Ile332Val)	RMND1 (I332V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517442	NM_017909.4(RMND1):c.980A>T (p.Glu327Val)	RMND1 (E157V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133216	NM_017909.4(RMND1):c.971A>C (p.Lys324Thr)	RMND1 (K324T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

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