MTRFR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 3024372	GRCh38/hg38 12q24.31(chr12:123141008-123578625)	LOC129390584, LOC130009080 +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 307492	NM_152269.4(MTRFR):c.-206G>T	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	MPHOSPH9, MTRFR	Single nucleotide variant (genic upstream transcript 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 307493	NM_152269.4(MTRFR):c.-128C>T	MPHOSPH9, MTRFR	Single nucleotide variant (genic upstream transcript 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 671535	NM_152269.5(MTRFR):c.-29+223C>T	MPHOSPH9, MTRFR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 635867	NM_152269.5(MTRFR):c.-28-1489_283-968del	MTRFR	Deletion (splice acceptor variant +2 more)	Neurodevelopmental disorder	GPathogenic
Select item 680559	NM_152269.5(MTRFR):c.-28-261G>T	MTRFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3038885	NM_152269.5(MTRFR):c.-8C>T	MTRFR	Single nucleotide variant (5 prime UTR variant)	MTRFR-related disorder	GLikely benign
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 1048600	NM_152269.5(MTRFR):c.18_21del (p.Leu6fs)	MTRFR (L6fs)	Deletion (frameshift variant)	Hereditary motor and sensory neuropathy with optic atrophy	GLikely pathogenic
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 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 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 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 307494	NM_152269.5(MTRFR):c.34C>T (p.Pro12Ser)	MTRFR (P12S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +2 more	GUncertain significance
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 1323989	NM_152269.5(MTRFR):c.43C>T (p.Arg15Ter)	MTRFR (R15*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 128535	NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln)	MTRFR (R15Q)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +3 more	GBenign
Select item 2412984	NM_152269.5(MTRFR):c.47T>C (p.Ile16Thr)	MTRFR (I16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502352	NM_152269.5(MTRFR):c.53C>T (p.Pro18Leu)	MTRFR (P18L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 307495	NM_152269.5(MTRFR):c.56C>T (p.Ala19Val)	MTRFR (A19V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +2 more	GUncertain significance
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 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 307496	NM_152269.5(MTRFR):c.90G>A (p.Thr30=)	MTRFR	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
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 214192	NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs)	MTRFR (P34fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
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 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 1344255	NM_152269.5(MTRFR):c.110C>T (p.Ala37Val)	MTRFR (A37V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 307497	NM_152269.5(MTRFR):c.112G>A (p.Val38Ile)	MTRFR (V38I)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +2 more	GUncertain significance
Select item 518004	NM_152269.5(MTRFR):c.120G>A (p.Pro40=)	MTRFR	Single nucleotide variant (synonymous variant)	not specified +2 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 983270	NM_152269.5(MTRFR):c.127_146del (p.Met43fs)	MTRFR (M43fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 55	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 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 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 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 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 517073	NM_152269.5(MTRFR):c.162C>A (p.Ser54=)	MTRFR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 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 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 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 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 1878304	NM_152269.5(MTRFR):c.207_220del (p.Pro70fs)	MTRFR (P70fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 7	GPathogenic
Select item 451809	NM_152269.5(MTRFR):c.205G>A (p.Gly69Ser)	MTRFR (G69S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 54	NM_152269.5(MTRFR):c.210del (p.Gly72fs)	MTRFR (G72fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1344256	NM_152269.5(MTRFR):c.212G>C (p.Gly71Ala)	MTRFR (G71A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 931369	NM_152269.5(MTRFR):c.215G>C (p.Gly72Ala)	MTRFR (G72A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 55	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 697718	NM_152269.5(MTRFR):c.234C>A (p.Thr78=)	MTRFR	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 136595	NM_152269.5(MTRFR):c.243C>T (p.Cys81=)	MTRFR	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 214193	NM_152269.5(MTRFR):c.244G>T (p.Val82Leu)	MTRFR (V82L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214191	NM_152269.5(MTRFR):c.244G>A (p.Val82Met)	MTRFR (V82M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 53	NM_152269.5(MTRFR):c.248del (p.Val83fs)	MTRFR (V83fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 7 +2 more	GPathogenic/Likely pathogenic
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 582973	NM_152269.5(MTRFR):c.257A>T (p.His86Leu)	MTRFR (H86L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +1 more	GUncertain significance
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 2930567	NM_152269.5(MTRFR):c.267A>G (p.Ser89=)	MTRFR	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
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 262628	NM_152269.5(MTRFR):c.273C>T (p.Ile91=)	MTRFR	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 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 144069	NM_152269.5(MTRFR):c.282+2T>A	MTRFR	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 55	GPathogenic
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 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 2040587	NM_152269.5(MTRFR):c.282+18G>A	MTRFR	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GLikely benign
Select item 1292964	NM_152269.5(MTRFR):c.282+175A>G	MTRFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250494	NM_152269.5(MTRFR):c.283-160A>G	MTRFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 421457	NM_152269.5(MTRFR):c.283-19_283-16dup	MTRFR	Duplication (intron variant)	Combined oxidative phosphorylation defect type 7 +2 more	GLikely benign
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 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 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 2024851	NM_152269.5(MTRFR):c.283-7_283-6del	MTRFR	Microsatellite (intron variant)	Spastic paraplegia +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 2690555	NM_152269.5(MTRFR):c.283-1G>T	MTRFR	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 418100	NM_152269.5(MTRFR):c.283T>C (p.Cys95Arg)	MTRFR (C95R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 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 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 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 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 698233	NM_152269.5(MTRFR):c.309G>A (p.Gln103=)	MTRFR	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign/Likely benign
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 662218	NM_152269.5(MTRFR):c.326G>A (p.Arg109Gln)	MTRFR (R109Q)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance

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