ClinVar for MedGen (Select 1682397) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585062	NM_017909.4(RMND1):c.703G>A (p.Val235Met)	RMND1 (V235M +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11	GUncertain significance
Select item 2498152	NM_017909.4(RMND1):c.108del (p.Phe36fs)	RMND1 (F36fs)	Deletion (frameshift variant +1 more)	Combined oxidative phosphorylation defect type 11	GPathogenic
Select item 2435440	NM_017909.4(RMND1):c.583G>A (p.Gly195Arg)	RMND1 (G195R +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11	GUncertain significance
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 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 1638280	NM_017909.4(RMND1):c.614-18G>A	RMND1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1517535	NM_017909.4(RMND1):c.257C>T (p.Ala86Val)	RMND1 (A86V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 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 1446903	NM_017909.4(RMND1):c.795C>G (p.His265Gln)	RMND1 (H265Q +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11 +3 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 1395019	NM_017909.4(RMND1):c.188A>G (p.Asn63Ser)	RMND1 (N63S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1389510	NM_017909.4(RMND1):c.526T>A (p.Phe176Ile)	RMND1 (F6I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1387810	NM_017909.4(RMND1):c.1235_1238del (p.Leu412fs)	RMND1 (L242fs +1 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 11 +1 more	GPathogenic/Likely pathogenic
Select item 1372631	NM_017909.4(RMND1):c.68G>A (p.Arg23Gln)	RMND1 (R23Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1371899	NM_017909.4(RMND1):c.1295T>C (p.Ile432Thr)	RMND1 (I262T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1254910	NM_017909.4(RMND1):c.852G>C (p.Arg284Ser)	RMND1 (R114S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 1077016	NM_017909.4(RMND1):c.859A>T (p.Ile287Phe)	RMND1 (I117F +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11	GLikely pathogenic
Select item 1032011	NM_017909.4(RMND1):c.1318-11T>C	RMND1	Single nucleotide variant (intron variant)	not provided +1 more	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 1029661	NM_017909.4(RMND1):c.530C>T (p.Ala177Val)	RMND1 (A177V +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11	GUncertain significance
Select item 981951	NM_017909.4(RMND1):c.856del (p.Glu286fs)	RMND1 (E116fs +1 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 11	GPathogenic
Select item 916005	GRCh37/hg19 6q25.1(chr6:151757398-151757691)	RMND1	Copy number loss	Combined oxidative phosphorylation defect type 11	GPathogenic
Select item 804397	NM_017909.4(RMND1):c.727del (p.Thr243fs)	RMND1 (T73fs +1 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 11	GLikely pathogenic
Select item 802282	NM_017909.4(RMND1):c.388del (p.Val130fs)	RMND1 (V130fs)	Deletion (frameshift variant +1 more)	Combined oxidative phosphorylation defect type 11	GLikely pathogenic
Select item 801002	NM_017909.4(RMND1):c.920A>G (p.Asn307Ser)	RMND1 (N307S +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11 +1 more	GUncertain significance
Select item 742871	NM_017909.4(RMND1):c.201C>A (p.Ile67=)	RMND1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 740377	NM_017909.4(RMND1):c.501C>T (p.Asn167=)	RMND1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 735961	NM_017909.4(RMND1):c.1167G>A (p.Thr389=)	RMND1	Single nucleotide variant (synonymous variant)	RMND1-related disorder +2 more	GBenign/Likely benign
Select item 714404	NM_017909.4(RMND1):c.1209T>C (p.Asn403=)	RMND1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 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 506866	NM_017909.4(RMND1):c.690-20C>G	RMND1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 440932	NM_017909.4(RMND1):c.1085G>A (p.Arg362His)	RMND1 (R362H +1 more)	Single nucleotide variant (missense variant)	RMND1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 424710	NM_017909.3(RMND1):c.[613G>T];[713A>G]			Combined oxidative phosphorylation defect type 11	GPathogenic
Select item 374907	NM_017909.2(RMND1):c.1003delG	RMND1	Deletion	Combined oxidative phosphorylation defect type 11	GPathogenic
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 242631	NM_017909.4(RMND1):c.613G>T (p.Asp205Tyr)	RMND1 (D205Y +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11	GPathogenic
Select item 225255	NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)	RMND1 (N238S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 143051	NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)	RMND1	Single nucleotide variant (stop lost)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 138913	NM_017909.4(RMND1):c.783C>T (p.Ile261=)	RMND1	Single nucleotide variant (synonymous variant)	not provided +3 more	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 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 39764	NM_017909.4(RMND1):c.504+1G>A	RMND1	Single nucleotide variant (intron variant +1 more)	Abnormality of the nervous system +1 more	GPathogenic/Likely pathogenic

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Links from MedGen

Items: 47