ClinVar for MedGen (Select 462151) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233573	NM_014846.4(WASHC5):c.210del (p.Lys70fs)	WASHC5 (K70fs)	Deletion (5 prime UTR variant +1 more)	Combined oxidative phosphorylation defect type 7 +1 more	GPathogenic
Select item 2952530	NM_152269.5(MTRFR):c.135_142dup (p.Asp48fs)	MTRFR (D48fs)	Duplication (frameshift variant)	Combined oxidative phosphorylation defect type 7 +1 more	GPathogenic
Select item 2946477	NM_152269.5(MTRFR):c.423G>A (p.Arg141=)	MTRFR	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 7 +1 more	GLikely benign
Select item 2940542	NM_152269.5(MTRFR):c.282+15G>A	MTRFR	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2938984	NM_152269.5(MTRFR):c.93G>A (p.Leu31=)	MTRFR	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 7 +1 more	GLikely benign
Select item 2937358	NM_152269.5(MTRFR):c.123C>A (p.Val41=)	MTRFR	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 7 +1 more	GLikely benign
Select item 2935747	NM_152269.5(MTRFR):c.258C>T (p.His86=)	MTRFR	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 7 +1 more	GLikely benign
Select item 2935239	NM_152269.5(MTRFR):c.283-8T>G	MTRFR	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2930567	NM_152269.5(MTRFR):c.267A>G (p.Ser89=)	MTRFR	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2925712	NM_152269.5(MTRFR):c.283-13T>C	MTRFR	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 7 +1 more	GLikely benign
Select item 2921637	NM_152269.5(MTRFR):c.204C>T (p.His68=)	MTRFR	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 7 +1 more	GLikely benign
Select item 2921346	NM_152269.5(MTRFR):c.193_194insCGAAAGCAGTTTG (p.Val65fs)	MTRFR (V65fs)	Insertion (frameshift variant)	Combined oxidative phosphorylation defect type 7 +1 more	GPathogenic
Select item 2428126	NM_152269.5(MTRFR):c.364G>A (p.Gly122Ser)	MTRFR (G122S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 2427352	NC_000012.11:g.(?_123738222)_(123738523_?)dup	MTRFR	Duplication	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 2427351	NC_000012.11:g.(?_123741340)_(123741578_?)del	MTRFR	Deletion	Combined oxidative phosphorylation defect type 7 +1 more	GPathogenic
Select item 2419174	NM_152269.5(MTRFR):c.9C>T (p.Thr3=)	MTRFR	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 7 +1 more	GLikely benign
Select item 2198007	NM_152269.5(MTRFR):c.450A>G (p.Glu150=)	MTRFR	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2184097	NM_152269.5(MTRFR):c.191T>C (p.Phe64Ser)	MTRFR (F64S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 2183011	NM_152269.5(MTRFR):c.430_432del (p.Arg144del)	MTRFR (R144del)	Deletion (inframe_deletion)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 2154700	NM_152269.5(MTRFR):c.283-12_283-10del	MTRFR	Microsatellite (intron variant)	Combined oxidative phosphorylation defect type 7 +1 more	GLikely benign
Select item 2151962	NM_152269.5(MTRFR):c.283-10T>C	MTRFR	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 7 +1 more	GLikely benign
Select item 2147754	NM_152269.5(MTRFR):c.431G>A (p.Arg144Lys)	MTRFR (R144K)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 2135700	NM_152269.5(MTRFR):c.256C>G (p.His86Asp)	MTRFR (H86D)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 2121119	NM_152269.5(MTRFR):c.410A>G (p.Lys137Arg)	MTRFR (K137R)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2112676	NM_152269.5(MTRFR):c.389A>C (p.Glu130Ala)	MTRFR (E130A)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2102575	NM_152269.5(MTRFR):c.426A>G (p.Lys142=)	MTRFR	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2086271	NM_152269.5(MTRFR):c.455A>G (p.Lys152Arg)	MTRFR (K152R)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2081182	NM_152269.5(MTRFR):c.166G>C (p.Asp56His)	MTRFR (D56H)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 2074123	NM_152269.5(MTRFR):c.372C>T (p.Asn124=)	MTRFR	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2070751	NM_152269.5(MTRFR):c.357C>T (p.Phe119=)	MTRFR	Single nucleotide variant (synonymous variant)	MTRFR-related condition +2 more	GLikely benign
Select item 2067895	NM_152269.5(MTRFR):c.26T>C (p.Phe9Ser)	MTRFR (F9S)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 2063839	NM_152269.5(MTRFR):c.160T>C (p.Ser54Pro)	MTRFR (S54P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 2040587	NM_152269.5(MTRFR):c.282+18G>A	MTRFR	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2037642	NM_152269.5(MTRFR):c.41C>T (p.Thr14Ile)	MTRFR (T14I)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 2026403	NM_152269.5(MTRFR):c.347T>G (p.Val116Gly)	MTRFR (V116G)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 2024851	NM_152269.5(MTRFR):c.283-7_283-6del	MTRFR	Microsatellite (intron variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2002452	NM_152269.5(MTRFR):c.346G>A (p.Val116Ile)	MTRFR (V116I)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 1999065	NM_152269.5(MTRFR):c.229A>G (p.Lys77Glu)	MTRFR (K77E)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1976039	NM_152269.5(MTRFR):c.355T>C (p.Phe119Leu)	MTRFR (F119L)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1971483	NM_152269.5(MTRFR):c.269G>A (p.Gly90Asp)	MTRFR (G90D)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1956827	NM_152269.5(MTRFR):c.136AAG[1] (p.Lys47del)	MTRFR (K47del)	Microsatellite (inframe_deletion)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 1946502	NM_152269.5(MTRFR):c.153A>G (p.Ala51=)	MTRFR	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 7 +1 more	GLikely benign
Select item 1929241	NM_152269.5(MTRFR):c.22C>G (p.His8Asp)	MTRFR (H8D)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 1878304	NM_152269.5(MTRFR):c.207_220del (p.Pro70fs)	MTRFR (P70fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 7	GPathogenic
Select item 1805511	NM_152269.5(MTRFR):c.292A>C (p.Thr98Pro)	MTRFR (T98P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 1681666	NM_152269.5(MTRFR):c.486T>A (p.Ser162Arg)	MTRFR (S162R)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 1681665	NM_152269.5(MTRFR):c.462A>T (p.Leu154=)	MTRFR	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 7 +1 more	GLikely benign
Select item 1681664	NM_152269.5(MTRFR):c.459G>C (p.Lys153Asn)	MTRFR (K153N)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 1681663	NM_152269.5(MTRFR):c.409A>T (p.Lys137Ter)	MTRFR (K137*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 7 +1 more	GPathogenic
Select item 1681662	NM_152269.5(MTRFR):c.405G>A (p.Ala135=)	MTRFR	Single nucleotide variant (synonymous variant)	MTRFR-related condition +2 more	GLikely benign
Select item 1681661	NM_152269.5(MTRFR):c.371_373del (p.Asn124del)	MTRFR (N124del)	Deletion (inframe_deletion)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 1681660	NM_152269.5(MTRFR):c.361A>G (p.Asn121Asp)	MTRFR (N121D)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 1681659	NM_152269.5(MTRFR):c.325C>T (p.Arg109Trp)	MTRFR (R109W)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 1681658	NM_152269.5(MTRFR):c.303T>C (p.Val101=)	MTRFR	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 7 +1 more	GLikely benign
Select item 1681657	NM_152269.5(MTRFR):c.282+17C>T	MTRFR	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 7 +1 more	GLikely benign
Select item 1681656	NM_152269.5(MTRFR):c.276T>C (p.Val92=)	MTRFR	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 7 +1 more	GLikely benign
Select item 1681655	NM_152269.5(MTRFR):c.274G>A (p.Val92Ile)	MTRFR (V92I)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 1681654	NM_152269.5(MTRFR):c.194T>C (p.Val65Ala)	MTRFR (V65A)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 1681653	NM_152269.5(MTRFR):c.136A>G (p.Lys46Glu)	MTRFR (K46E)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 1681652	NM_152269.5(MTRFR):c.104_105delinsAT (p.Gly35Asp)	MTRFR (G35D)	Indel (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 1681651	NM_152269.5(MTRFR):c.32C>T (p.Thr11Ile)	MTRFR (T11I)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 1344258	NM_152269.5(MTRFR):c.433G>A (p.Ala145Thr)	MTRFR (A145T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GUncertain significance
Select item 1344257	NM_152269.5(MTRFR):c.333C>A (p.Ile111=)	MTRFR	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1309118	NM_152269.5(MTRFR):c.71G>T (p.Arg24Leu)	MTRFR (R24L)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 1212115	NM_152269.5(MTRFR):c.71G>A (p.Arg24Gln)	MTRFR (R24Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1158561	NM_152269.5(MTRFR):c.99C>T (p.Ser33=)	MTRFR	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 7 +1 more	GLikely benign
Select item 998425	NM_152269.5(MTRFR):c.297A>T (p.Arg99Ser)	MTRFR (R99S)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 953575	NM_152269.5(MTRFR):c.296G>A (p.Arg99Lys)	MTRFR (R99K)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 915979	GRCh37/hg19 12q24.31(chr12:123738221-123738503)	MTRFR	Copy number loss	Combined oxidative phosphorylation defect type 7	GPathogenic
Select item 883493	NM_152269.5(MTRFR):c.*887T>A	MTRFR	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 883492	NM_152269.5(MTRFR):c.*869T>C	MTRFR	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 883491	NM_152269.5(MTRFR):c.*853C>G	MTRFR	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 883490	NM_152269.5(MTRFR):c.*809A>C	MTRFR	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 883443	NM_152269.5(MTRFR):c.353T>C (p.Val118Ala)	MTRFR (V118A)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 883442	NM_152269.5(MTRFR):c.336A>G (p.Leu112=)	MTRFR	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 7 +1 more	GConflicting classifications of pathogenicity
Select item 883441	NM_152269.5(MTRFR):c.304G>A (p.Asp102Asn)	MTRFR (D102N)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 883440	NM_152269.5(MTRFR):c.181G>A (p.Glu61Lys)	MTRFR (E61K)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 882715	NM_152269.5(MTRFR):c.*761G>A	MTRFR	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 882714	NM_152269.5(MTRFR):c.*647G>C	MTRFR	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 882667	NM_152269.5(MTRFR):c.-51C>T	MPHOSPH9, MTRFR	Single nucleotide variant (5 prime UTR variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 882666	NM_152269.4(MTRFR):c.-132A>G	MPHOSPH9, MTRFR	Single nucleotide variant (genic upstream transcript variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 882665	NM_152269.4(MTRFR):c.-166T>C	MTRFR, MPHOSPH9	Single nucleotide variant (genic upstream transcript variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 881554	NM_152269.5(MTRFR):c.*439C>T	MTRFR	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 881553	NM_152269.5(MTRFR):c.*374A>G	MTRFR	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 881552	NM_152269.5(MTRFR):c.*212G>A	MTRFR	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 881090	NM_152269.5(MTRFR):c.*195G>A	MTRFR	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 881089	NM_152269.5(MTRFR):c.*159G>A	MTRFR	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 881088	NM_152269.5(MTRFR):c.*13A>C	MTRFR	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 881087	NM_152269.5(MTRFR):c.486T>G (p.Ser162Arg)	MTRFR (S162R)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 859045	NM_152269.5(MTRFR):c.33dup (p.Pro12fs)	MTRFR (P12fs)	Duplication (frameshift variant)	Combined oxidative phosphorylation defect type 7 +1 more	GPathogenic
Select item 834522	NM_152269.5(MTRFR):c.307del (p.Gln103fs)	MTRFR (Q103fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 7 +1 more	GPathogenic
Select item 832824	NC_000012.12:g.(?_123253665)_(123257041_?)dup	MTRFR	Duplication	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
Select item 813299	GRCh37/hg19 12q24.31(chr12:123738222-123738503)	MTRFR	Copy number loss	Combined oxidative phosphorylation defect type 7	GPathogenic
Select item 747727	NM_152269.5(MTRFR):c.246G>A (p.Val82=)	MTRFR	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 7 +2 more	GConflicting classifications of pathogenicity
Select item 700950	NM_152269.5(MTRFR):c.57G>A (p.Ala19=)	MTRFR	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 698233	NM_152269.5(MTRFR):c.309G>A (p.Gln103=)	MTRFR	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 697718	NM_152269.5(MTRFR):c.234C>A (p.Thr78=)	MTRFR	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 697230	NM_152269.5(MTRFR):c.54G>A (p.Pro18=)	MTRFR	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 662218	NM_152269.5(MTRFR):c.326G>A (p.Arg109Gln)	MTRFR (R109Q)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 645919	NM_152269.5(MTRFR):c.419A>G (p.Glu140Gly)	MTRFR (E140G)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance

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