ClinVar for Gene (Select 6018) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314578	NM_012421.4(RLF):c.2786A>G (p.Asn929Ser)	RLF (N929S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314577	NM_012421.4(RLF):c.1687G>A (p.Glu563Lys)	RLF (E563K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314576	NM_012421.4(RLF):c.758C>G (p.Ala253Gly)	RLF (A253G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314575	NM_012421.4(RLF):c.3053C>T (p.Thr1018Ile)	RLF (T1018I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314574	NM_012421.4(RLF):c.4991A>G (p.Asp1664Gly)	RLF (D1664G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314573	NM_012421.4(RLF):c.2926C>T (p.Arg976Trp)	RLF (R976W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314572	NM_012421.4(RLF):c.4958G>A (p.Gly1653Glu)	RLF (G1653E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314571	NM_012421.4(RLF):c.4499A>G (p.Gln1500Arg)	RLF (Q1500R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314569	NM_012421.4(RLF):c.1931A>G (p.Asn644Ser)	RLF (N644S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314568	NM_012421.4(RLF):c.5461A>G (p.Ser1821Gly)	RLF (S1821G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314567	NM_012421.4(RLF):c.4385C>T (p.Ser1462Leu)	RLF (S1462L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154746	NM_012421.4(RLF):c.89C>T (p.Thr30Ile)	RLF (T30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154745	NM_012421.4(RLF):c.5569T>G (p.Leu1857Val)	RLF (L1857V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154743	NM_012421.4(RLF):c.5518C>G (p.Leu1840Val)	RLF (L1840V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154742	NM_012421.4(RLF):c.5509C>A (p.His1837Asn)	RLF (H1837N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154741	NM_012421.4(RLF):c.5480T>C (p.Ile1827Thr)	RLF (I1827T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154739	NM_012421.4(RLF):c.5065G>C (p.Val1689Leu)	RLF (V1689L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154738	NM_012421.4(RLF):c.4933A>G (p.Ser1645Gly)	RLF (S1645G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154737	NM_012421.4(RLF):c.4865G>A (p.Arg1622His)	RLF (R1622H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154736	NM_012421.4(RLF):c.4844A>G (p.Asn1615Ser)	RLF (N1615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154735	NM_012421.4(RLF):c.4829T>C (p.Ile1610Thr)	RLF (I1610T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154733	NM_012421.4(RLF):c.4505A>G (p.His1502Arg)	RLF (H1502R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154732	NM_012421.4(RLF):c.4373G>A (p.Arg1458His)	RLF (R1458H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154731	NM_012421.4(RLF):c.4265A>G (p.Asn1422Ser)	RLF (N1422S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154730	NM_012421.4(RLF):c.3734A>T (p.His1245Leu)	RLF (H1245L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154729	NM_012421.4(RLF):c.3143T>C (p.Ile1048Thr)	RLF (I1048T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154727	NM_012421.4(RLF):c.28G>A (p.Ala10Thr)	RLF (A10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154726	NM_012421.4(RLF):c.2537G>C (p.Gly846Ala)	RLF (G846A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154725	NM_012421.4(RLF):c.2122G>T (p.Asp708Tyr)	RLF (D708Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154724	NM_012421.4(RLF):c.13A>G (p.Lys5Glu)	RLF (K5E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	EDN2, NFYC +20 more	Copy number loss	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638721	NM_012421.4(RLF):c.1968A>G (p.Thr656=)	RLF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620936	NM_012421.4(RLF):c.2939C>T (p.Pro980Leu)	RLF (P980L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620893	NM_012421.4(RLF):c.3067C>G (p.Pro1023Ala)	RLF (P1023A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614009	NM_012421.4(RLF):c.2456A>G (p.Gln819Arg)	RLF (Q819R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610869	NM_012421.4(RLF):c.664T>A (p.Leu222Met)	RLF (L222M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607719	NM_012421.4(RLF):c.1946G>A (p.Gly649Glu)	RLF (G649E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594935	NM_012421.4(RLF):c.4063C>T (p.Leu1355Phe)	RLF (L1355F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589378	NM_012421.4(RLF):c.4141A>C (p.Lys1381Gln)	RLF (K1381Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557967	NM_012421.4(RLF):c.5060A>G (p.Asn1687Ser)	RLF (N1687S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552336	NM_012421.4(RLF):c.4459C>G (p.Leu1487Val)	RLF (L1487V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536984	NM_012421.4(RLF):c.694A>G (p.Thr232Ala)	RLF (T232A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534839	NM_012421.4(RLF):c.4876A>C (p.Ser1626Arg)	RLF (S1626R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491230	NM_012421.4(RLF):c.4243C>T (p.Pro1415Ser)	RLF (P1415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488481	NM_012421.4(RLF):c.5402C>A (p.Ser1801Tyr)	RLF (S1801Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476177	NM_012421.4(RLF):c.1589A>G (p.Asp530Gly)	RLF (D530G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474552	NM_012421.4(RLF):c.1336C>G (p.Pro446Ala)	RLF (P446A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461102	NM_012421.4(RLF):c.21C>G (p.Asp7Glu)	RLF (D7E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408385	NM_012421.4(RLF):c.5537T>C (p.Leu1846Ser)	RLF (L1846S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407063	NM_012421.4(RLF):c.5074C>T (p.Pro1692Ser)	RLF (P1692S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403689	NM_012421.4(RLF):c.2782T>C (p.Ser928Pro)	RLF (S928P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398764	NM_012421.4(RLF):c.5522C>G (p.Thr1841Ser)	RLF (T1841S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397104	NM_012421.4(RLF):c.4822C>A (p.Pro1608Thr)	RLF (P1608T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396938	NM_012421.4(RLF):c.2470A>G (p.Met824Val)	RLF (M824V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389191	NM_012421.4(RLF):c.1312C>G (p.Gln438Glu)	RLF (Q438E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385624	NM_012421.4(RLF):c.3857A>G (p.Glu1286Gly)	RLF (E1286G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380326	NM_012421.4(RLF):c.4822C>G (p.Pro1608Ala)	RLF (P1608A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379139	NM_012421.4(RLF):c.5259T>A (p.His1753Gln)	RLF (H1753Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378089	NM_012421.4(RLF):c.191A>T (p.Glu64Val)	RLF (E64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368973	NM_012421.4(RLF):c.4880A>G (p.His1627Arg)	RLF (H1627R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357348	NM_012421.4(RLF):c.56C>T (p.Pro19Leu)	RLF (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348385	NM_012421.4(RLF):c.4781A>G (p.Tyr1594Cys)	RLF (Y1594C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343925	NM_012421.4(RLF):c.3052A>G (p.Thr1018Ala)	RLF (T1018A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340305	NM_012421.4(RLF):c.189A>C (p.Gln63His)	RLF (Q63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339063	NM_012421.4(RLF):c.1870T>C (p.Ser624Pro)	RLF (S624P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337903	NM_012421.4(RLF):c.77A>G (p.Asp26Gly)	RLF (D26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323444	NM_012421.4(RLF):c.1022G>A (p.Arg341His)	RLF (R341H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321162	NM_012421.4(RLF):c.3968A>G (p.Asn1323Ser)	RLF (N1323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317599	NM_012421.4(RLF):c.2956A>G (p.Lys986Glu)	RLF (K986E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315178	NM_012421.4(RLF):c.4779G>T (p.Lys1593Asn)	RLF (K1593N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303948	NM_012421.4(RLF):c.5527A>C (p.Ile1843Leu)	RLF (I1843L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282048	NM_012421.4(RLF):c.5359T>A (p.Phe1787Ile)	RLF (F1787I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281245	NM_012421.4(RLF):c.1256T>C (p.Ile419Thr)	RLF (I419T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278117	NM_012421.4(RLF):c.1331A>G (p.Asn444Ser)	RLF (N444S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275588	NM_012421.4(RLF):c.4157C>T (p.Ser1386Phe)	RLF (S1386F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267962	NM_012421.4(RLF):c.5353G>A (p.Asp1785Asn)	RLF (D1785N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263400	NM_012421.4(RLF):c.3110G>A (p.Arg1037Gln)	RLF (R1037Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263399	NM_012421.4(RLF):c.3082G>T (p.Asp1028Tyr)	RLF (D1028Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256970	NM_012421.4(RLF):c.10G>A (p.Gly4Arg)	RLF (G4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243752	NM_012421.4(RLF):c.1494A>C (p.Glu498Asp)	RLF (E498D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241238	NM_012421.4(RLF):c.1079T>C (p.Ile360Thr)	RLF (I360T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240125	NM_012421.4(RLF):c.1036A>G (p.Ile346Val)	RLF (I346V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228409	NM_012421.4(RLF):c.37G>C (p.Gly13Arg)	RLF (G13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216268	NM_012421.4(RLF):c.23C>T (p.Ala8Val)	RLF (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215926	NM_012421.4(RLF):c.2519T>G (p.Leu840Arg)	RLF (L840R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205326	NM_012421.4(RLF):c.1936C>G (p.Gln646Glu)	RLF (Q646E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 771307	NM_012421.4(RLF):c.5148C>T (p.Phe1716=)	RLF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771306	NM_012421.4(RLF):c.4563C>G (p.Ile1521Met)	RLF (I1521M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771305	NM_012421.4(RLF):c.2600C>A (p.Pro867His)	RLF (P867H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771304	NM_012421.4(RLF):c.779C>G (p.Ser260Cys)	RLF (S260C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727067	NM_012421.4(RLF):c.2457G>A (p.Gln819=)	RLF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726801	NM_012421.4(RLF):c.768A>G (p.Thr256=)	RLF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685611	GRCh37/hg19 1p34.2(chr1:40657779-40758399)x3	RLF, TMCO2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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