20582[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 1292543	NC_000004.12:g.107931403T>C	CYP2U1, CYP2U1-AS1	Single nucleotide variant	not provided	GBenign
Select item 672419	NM_183075.2(CYP2U1):c.-204C>A	CYP2U1, CYP2U1-AS1	Single nucleotide variant	not provided	GLikely benign
Select item 1242157	NM_183075.3(CYP2U1):c.-70C>T	CYP2U1, CYP2U1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 380776	NM_183075.3(CYP2U1):c.-37G>A	CYP2U1, CYP2U1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 445958	NM_183075.3(CYP2U1):c.-24_8del (p.Met1fs)	CYP2U1, CYP2U1-AS1 (M1fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 389852	NM_183075.3(CYP2U1):c.-22C>A	CYP2U1-AS1, CYP2U1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 989059	NM_183075.3(CYP2U1):c.1A>C (p.Met1Leu)	CYP2U1, CYP2U1-AS1 (M1L)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 56	GPathogenic
Select item 2204566	NM_183075.3(CYP2U1):c.5C>G (p.Ser2Trp)	CYP2U1, CYP2U1-AS1 (S2W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 966221	NM_183075.3(CYP2U1):c.5C>T (p.Ser2Leu)	CYP2U1-AS1, CYP2U1 (S2L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 695323	NM_183075.3(CYP2U1):c.10C>T (p.Pro4Ser)	CYP2U1, CYP2U1-AS1 (P4S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2137677	NM_183075.3(CYP2U1):c.11C>T (p.Pro4Leu)	CYP2U1, CYP2U1-AS1 (P4L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1363750	NM_183075.3(CYP2U1):c.31_42dup (p.Ala11_Pro14dup)	CYP2U1, CYP2U1-AS1	Duplication (inframe_insertion)	Spastic paraplegia	GUncertain significance
Select item 3270618	NM_183075.3(CYP2U1):c.29C>T (p.Pro10Leu)	CYP2U1, CYP2U1-AS1 (P10L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1370994	NM_183075.3(CYP2U1):c.29C>A (p.Pro10Gln)	CYP2U1, CYP2U1-AS1 (P10Q)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2087877	NM_183075.3(CYP2U1):c.30G>A (p.Pro10=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1686869	NM_183075.3(CYP2U1):c.41del (p.Pro14fs)	CYP2U1, CYP2U1-AS1 (P14fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 56	GPathogenic
Select item 3079591	NM_183075.3(CYP2U1):c.43C>T (p.Pro15Ser)	CYP2U1, CYP2U1-AS1 (P15S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2086307	NM_183075.3(CYP2U1):c.54G>A (p.Ala18=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 39502	NM_183075.3(CYP2U1):c.61_73del (p.Leu21fs)	CYP2U1, CYP2U1-AS1 (L21fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 56	GPathogenic
Select item 2031734	NM_183075.3(CYP2U1):c.57C>G (p.Arg19=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 695845	NM_183075.3(CYP2U1):c.60C>T (p.Leu20=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 2110467	NM_183075.3(CYP2U1):c.64C>T (p.Arg22Cys)	CYP2U1, CYP2U1-AS1 (R22C)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1934301	NM_183075.3(CYP2U1):c.74T>C (p.Leu25Pro)	CYP2U1, CYP2U1-AS1 (L25P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2759648	NM_183075.3(CYP2U1):c.88C>T (p.Leu30=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1513102	NM_183075.3(CYP2U1):c.95C>T (p.Pro32Leu)	CYP2U1, CYP2U1-AS1 (P32L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2146385	NM_183075.3(CYP2U1):c.98G>T (p.Ser33Ile)	CYP2U1, CYP2U1-AS1 (S33I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1636565	NM_183075.3(CYP2U1):c.99C>T (p.Ser33=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1494421	NM_183075.3(CYP2U1):c.107C>A (p.Ala36Glu)	CYP2U1, CYP2U1-AS1 (A36E)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3013574	NM_183075.3(CYP2U1):c.108G>A (p.Ala36=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1985640	NM_183075.3(CYP2U1):c.115C>T (p.Leu39=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2655012	NM_183075.3(CYP2U1):c.117A>T (p.Leu39=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005472	NM_183075.3(CYP2U1):c.117A>C (p.Leu39=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1344266	NM_183075.3(CYP2U1):c.118T>C (p.Cys40Arg)	CYP2U1, CYP2U1-AS1 (C40R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1435230	NM_183075.3(CYP2U1):c.124C>T (p.Leu42Phe)	CYP2U1, CYP2U1-AS1 (L42F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2655013	NM_183075.3(CYP2U1):c.126C>G (p.Leu42=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1037864	NM_183075.3(CYP2U1):c.127G>C (p.Val43Leu)	CYP2U1-AS1, CYP2U1 (V43L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2181779	NM_183075.3(CYP2U1):c.128T>C (p.Val43Ala)	CYP2U1, CYP2U1-AS1 (V43A)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2877957	NM_183075.3(CYP2U1):c.143G>T (p.Trp48Leu)	CYP2U1, CYP2U1-AS1 (W48L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1404836	NM_183075.3(CYP2U1):c.154C>T (p.Arg52Trp)	CYP2U1, CYP2U1-AS1 (R52W)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1913808	NM_183075.3(CYP2U1):c.155G>C (p.Arg52Pro)	CYP2U1, CYP2U1-AS1 (R52P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1402984	NM_183075.3(CYP2U1):c.164G>A (p.Arg55Gln)	CYP2U1, CYP2U1-AS1 (R55Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2108559	NM_183075.3(CYP2U1):c.168G>T (p.Ala56=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2197704	NM_183075.3(CYP2U1):c.174C>T (p.Gly58=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2844619	NM_183075.3(CYP2U1):c.183C>T (p.Pro61=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1985449	NM_183075.3(CYP2U1):c.186G>T (p.Gly62=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2138810	NM_183075.3(CYP2U1):c.195C>T (p.Pro65=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 859667	NM_183075.3(CYP2U1):c.200C>T (p.Pro67Leu)	CYP2U1, CYP2U1-AS1 (P67L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1040765	NM_183075.3(CYP2U1):c.206T>C (p.Val69Ala)	CYP2U1, CYP2U1-AS1 (V69A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1344271	NM_183075.3(CYP2U1):c.209G>A (p.Gly70Asp)	CYP2U1, CYP2U1-AS1 (G70D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1445502	NM_183075.3(CYP2U1):c.213C>G (p.Asn71Lys)	CYP2U1, CYP2U1-AS1 (N71K)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1971998	NM_183075.3(CYP2U1):c.216C>T (p.Phe72=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3053149	NM_183075.3(CYP2U1):c.229C>T (p.Leu77=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	CYP2U1-related disorder	GLikely benign
Select item 2192377	NM_183075.3(CYP2U1):c.235C>T (p.Pro79Ser)	CYP2U1, CYP2U1-AS1 (P79S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1006164	NM_183075.3(CYP2U1):c.235C>G (p.Pro79Ala)	CYP2U1, CYP2U1-AS1 (P79A)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1347686	NM_183075.3(CYP2U1):c.244C>T (p.Arg82Trp)	CYP2U1, CYP2U1-AS1 (R82W)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1672614	NM_183075.3(CYP2U1):c.261G>C (p.Leu87=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1518272	NM_183075.3(CYP2U1):c.267C>T (p.Ser89=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GUncertain significance
Select item 2323247	NM_183075.3(CYP2U1):c.278C>A (p.Ala93Asp)	CYP2U1, CYP2U1-AS1 (A93D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2051823	NM_183075.3(CYP2U1):c.281C>T (p.Ala94Val)	CYP2U1, CYP2U1-AS1 (A94V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2017135	NM_183075.3(CYP2U1):c.294C>T (p.Pro98=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1407963	NM_183075.3(CYP2U1):c.302T>C (p.Ile101Thr)	CYP2U1, CYP2U1-AS1 (I101T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 974827	NM_183075.3(CYP2U1):c.311_336dup (p.Val113delinsArgCysSerTrpLeuThrTer)	CYP2U1, CYP2U1-AS1	Duplication (nonsense)	Hereditary spastic paraplegia 56	GLikely pathogenic
Select item 1367574	NM_183075.3(CYP2U1):c.305G>T (p.Gly102Val)	CYP2U1, CYP2U1-AS1 (G102V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 409955	NM_183075.3(CYP2U1):c.308C>T (p.Pro103Leu)	CYP2U1, CYP2U1-AS1 (P103L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2152366	NM_183075.3(CYP2U1):c.313G>A (p.Val105Met)	CYP2U1-AS1, CYP2U1 (V105M)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1442452	NM_183075.3(CYP2U1):c.317T>C (p.Leu106Pro)	CYP2U1, CYP2U1-AS1 (L106P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 740324	NM_183075.3(CYP2U1):c.318C>T (p.Leu106=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1443134	NM_183075.3(CYP2U1):c.322G>A (p.Ala108Thr)	CYP2U1, CYP2U1-AS1 (A108T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1447982	NM_183075.3(CYP2U1):c.340T>A (p.Tyr114Asn)	CYP2U1, CYP2U1-AS1 (Y114N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 489169	NM_183075.3(CYP2U1):c.342C>A (p.Tyr114Ter)	CYP2U1, CYP2U1-AS1 (Y114*)	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia +1 more	GPathogenic
Select item 3065911	NM_183075.3(CYP2U1):c.343G>C (p.Gly115Arg)	CYP2U1, CYP2U1-AS1 (G115R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 56	GUncertain significance
Select item 1068252	NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser)	CYP2U1, CYP2U1-AS1 (G115S)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia +3 more	GPathogenic/Likely pathogenic
Select item 1443839	NM_183075.3(CYP2U1):c.345C>T (p.Gly115=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia	GLikely benign
Select item 452869	NM_183075.3(CYP2U1):c.358T>C (p.Phe120Leu)	CYP2U1, CYP2U1-AS1 (F120L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1344272	NM_183075.3(CYP2U1):c.360C>G (p.Phe120Leu)	CYP2U1, CYP2U1-AS1 (F120L)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1513885	NM_183075.3(CYP2U1):c.367_375del (p.Gly123_Tyr125del)	CYP2U1, CYP2U1-AS1	Deletion (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 56 +1 more	GUncertain significance
Select item 522918	NM_183075.3(CYP2U1):c.370C>T (p.His124Tyr)	CYP2U1, CYP2U1-AS1 (H124Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 696070	NM_183075.3(CYP2U1):c.372C>T (p.His124=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2473788	NM_183075.3(CYP2U1):c.386T>A (p.Val129Asp)	CYP2U1, CYP2U1-AS1 (V129D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1081078	NM_183075.3(CYP2U1):c.387C>T (p.Val129=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2418668	NM_183075.3(CYP2U1):c.392_393delinsTT (p.Ser131Ile)	CYP2U1, CYP2U1-AS1 (S131I)	Indel (non-coding transcript variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 696011	NM_183075.3(CYP2U1):c.396C>T (p.Asp132=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1491843	NM_183075.3(CYP2U1):c.411C>T (p.Arg137=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2143105	NM_183075.3(CYP2U1):c.412G>A (p.Glu138Lys)	CYP2U1, CYP2U1-AS1 (E138K)	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1566809	NM_183075.3(CYP2U1):c.417G>A (p.Ala139=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2121576	NM_183075.3(CYP2U1):c.420G>C (p.Leu140=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1026736	NM_183075.3(CYP2U1):c.425A>T (p.Gln142Leu)	CYP2U1, CYP2U1-AS1 (Q142L)	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1344273	NM_183075.3(CYP2U1):c.426G>T (p.Gln142His)	CYP2U1, CYP2U1-AS1 (Q142H)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1163251	NM_183075.3(CYP2U1):c.452C>A (p.Pro151Gln)	CYP2U1, CYP2U1-AS1 +1 more (P151Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 433182	NM_183075.3(CYP2U1):c.452C>T (p.Pro151Leu)	CYP2U1-AS1, LOC129992929 +1 more (P151L)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 56	GLikely pathogenic
Select item 1956385	NM_183075.3(CYP2U1):c.453G>A (p.Pro151=)	CYP2U1, CYP2U1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1176037	NM_183075.3(CYP2U1):c.453G>C (p.Pro151=)	CYP2U1, CYP2U1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2051447	NM_183075.3(CYP2U1):c.461C>T (p.Pro154Leu)	CYP2U1, CYP2U1-AS1 +1 more (P154L)	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1922581	NM_183075.3(CYP2U1):c.464T>C (p.Leu155Pro)	CYP2U1, CYP2U1-AS1 +1 more (L155P)	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 655971	NM_183075.3(CYP2U1):c.471del (p.Ile158fs)	CYP2U1, CYP2U1-AS1 +1 more (I158fs)	Deletion (non-coding transcript variant +1 more)	Spastic paraplegia	GPathogenic
Select item 1042063	NM_183075.3(CYP2U1):c.472A>C (p.Ile158Leu)	CYP2U1, CYP2U1-AS1 +1 more (I158L)	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2044228	NM_183075.3(CYP2U1):c.488A>G (p.Lys163Arg)	CYP2U1, LOC129992929 (K163R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1344274	NM_183075.3(CYP2U1):c.488A>T (p.Lys163Met)	CYP2U1, LOC129992929 (K163M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance

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