ClinVar for Gene (Select 91574) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393123	NM_152269.5(MTRFR):c.424A>G (p.Lys142Glu)	MTRFR (K142E)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 3340697	NM_152269.5(MTRFR):c.259del (p.Ile87fs)	MTRFR (I87fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3244330	NC_000012.11:g.(?_123738222)_(123738523_?)del	MTRFR	Deletion	Combined oxidative phosphorylation defect type 7 +1 more	GPathogenic
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	CAMKK2, CCDC62 +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3233935	NC_000012.11:g.(?_123717982)_(123742508_?)dup	MTRFR	Duplication	not specified	GUncertain significance
Select item 3063256	GRCh37/hg19 12q24.31(chr12:123640263-124319101)x1	ATP6V0A2, CDK2AP1 +13 more	Copy number loss	not specified	GUncertain significance
Select item 3063249	GRCh37/hg19 12q24.31(chr12:123586597-124015352)x3	CDK2AP1, KMT5A +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063242	GRCh37/hg19 12q24.31(chr12:123651965-124044014)x3	CDK2AP1, KMT5A +6 more	Copy number gain	not specified	GUncertain significance
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 3026471	NM_152269.5(MTRFR):c.414A>G (p.Lys138=)	MTRFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024372	GRCh38/hg38 12q24.31(chr12:123141008-123578625)	CDK2AP1, KMT5A +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
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)	Spastic paraplegia +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)	Spastic paraplegia +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 2690555	NM_152269.5(MTRFR):c.283-1G>T	MTRFR	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2633282	NM_152269.5(MTRFR):c.385_404dup (p.Lys138fs)	MTRFR (K138fs)	Duplication (frameshift variant)	MTRFR-related disorder	GLikely pathogenic
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2579721	NM_152269.5(MTRFR):c.370A>T (p.Asn124Tyr)	MTRFR (N124Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498572	NM_152269.5(MTRFR):c.433_457del (p.Ala145fs)	MTRFR (A145fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
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 2412984	NM_152269.5(MTRFR):c.47T>C (p.Ile16Thr)	MTRFR (I16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Spastic paraplegia +1 more	GUncertain significance
Select item 2183011	NM_152269.5(MTRFR):c.430_432del (p.Arg144del)	MTRFR (R144del)	Deletion (inframe_deletion)	Spastic paraplegia +1 more	GUncertain significance
Select item 2154700	NM_152269.5(MTRFR):c.283-12_283-10del	MTRFR	Microsatellite (intron variant)	Spastic paraplegia +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)	Spastic paraplegia +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)	Combined oxidative phosphorylation defect type 7 +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)	Combined oxidative phosphorylation defect type 7 +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)	Spastic paraplegia +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)	Spastic paraplegia +1 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)	Spastic paraplegia +1 more	GUncertain significance
Select item 2040587	NM_152269.5(MTRFR):c.282+18G>A	MTRFR	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 7 +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)	Spastic paraplegia +1 more	GUncertain significance
Select item 2024851	NM_152269.5(MTRFR):c.283-7_283-6del	MTRFR	Microsatellite (intron variant)	Combined oxidative phosphorylation defect type 7 +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)	Spastic paraplegia +1 more	GLikely benign
Select item 1929241	NM_152269.5(MTRFR):c.22C>G (p.His8Asp)	MTRFR (H8D)	Single nucleotide variant (missense variant)	Spastic paraplegia +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)	Spastic paraplegia +1 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)	Spastic paraplegia +2 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 1527745	GRCh37/hg19 12q24.31(chr12:122938957-123747037)	ABCB9, ARL6IP4 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1344258	NM_152269.5(MTRFR):c.433G>A (p.Ala145Thr)	MTRFR (A145T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 1344257	NM_152269.5(MTRFR):c.333C>A (p.Ile111=)	MTRFR	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 1344255	NM_152269.5(MTRFR):c.110C>T (p.Ala37Val)	MTRFR (A37V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1323989	NM_152269.5(MTRFR):c.43C>T (p.Arg15Ter)	MTRFR (R15*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 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 1212115	NM_152269.5(MTRFR):c.71G>A (p.Arg24Gln)	MTRFR (R24Q)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 1158561	NM_152269.5(MTRFR):c.99C>T (p.Ser33=)	MTRFR	Single nucleotide variant (synonymous variant)	Spastic paraplegia +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 1013366	NM_152269.5(MTRFR):c.363T>C (p.Asn121=)	MTRFR	Single nucleotide variant (synonymous variant)	not provided	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 983270	NM_152269.5(MTRFR):c.127_146del (p.Met43fs)	MTRFR (M43fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 55	GPathogenic
Select item 953575	NM_152269.5(MTRFR):c.296G>A (p.Arg99Lys)	MTRFR (R99K)	Single nucleotide variant (missense variant)	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 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

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