RFWD3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 59996	GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3	BCAR1, CFDP1 +75 more	Copy number gain	See cases	GUncertain significance
Select item 150420	GRCh38/hg38 16q23.1(chr16:74207339-74862823)x1	CLEC18B, FA2H +23 more	Copy number loss	See cases	GUncertain significance
Select item 3002610	NM_018124.4(RFWD3):c.2322G>A (p.Glu774=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007967	NM_018124.4(RFWD3):c.2319G>A (p.Trp773Ter)	RFWD3 (W773* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2101636	NM_018124.4(RFWD3):c.2313T>C (p.Tyr771=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817306	NM_018124.4(RFWD3):c.2312A>G (p.Tyr771Cys)	RFWD3 (Y493C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414171	NM_018124.4(RFWD3):c.2312A>T (p.Tyr771Phe)	RFWD3 (Y493F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103853	NM_018124.4(RFWD3):c.2307C>T (p.His769=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064152	NM_018124.4(RFWD3):c.2299A>G (p.Met767Val)	RFWD3 (M767V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2770858	NM_018124.4(RFWD3):c.2286C>A (p.Thr762=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083793	NM_018124.4(RFWD3):c.2281G>A (p.Ala761Thr)	RFWD3 (A761T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818954	NM_018124.4(RFWD3):c.2276A>G (p.Tyr759Cys)	RFWD3 (Y700C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152265	NM_018124.4(RFWD3):c.2267G>A (p.Arg756His)	RFWD3 (R756H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791342	NM_018124.4(RFWD3):c.2266C>A (p.Arg756Ser)	RFWD3 (R478S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080832	NM_018124.4(RFWD3):c.2266C>T (p.Arg756Cys)	RFWD3 (R478C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2089308	NM_018124.4(RFWD3):c.2261T>C (p.Val754Ala)	RFWD3 (V695A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959076	NM_018124.4(RFWD3):c.2255T>C (p.Phe752Ser)	RFWD3 (F474S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062681	NM_018124.4(RFWD3):c.2247C>T (p.Ile749=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971763	NM_018124.4(RFWD3):c.2245A>G (p.Ile749Val)	RFWD3 (I690V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879248	NM_018124.4(RFWD3):c.2244C>T (p.Asp748=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2165274	NM_018124.4(RFWD3):c.2238G>A (p.Val746=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2084575	NM_018124.4(RFWD3):c.2227G>A (p.Asp743Asn)	RFWD3 (D743N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015450	NM_018124.4(RFWD3):c.2226C>T (p.Thr742=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2194228	NM_018124.4(RFWD3):c.2223G>C (p.Gln741His)	RFWD3 (Q463H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1185033	NM_018124.4(RFWD3):c.2205G>A (p.Ser735=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2825171	NM_018124.4(RFWD3):c.2204C>G (p.Ser735Trp)	RFWD3 (S457W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867878	NM_018124.4(RFWD3):c.2195C>G (p.Ala732Gly)	RFWD3 (A454G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180964	NM_018124.4(RFWD3):c.2192C>G (p.Ala731Gly)	RFWD3 (A453G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045858	NM_018124.4(RFWD3):c.2182-3T>C	RFWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2103038	NM_018124.4(RFWD3):c.2182-5T>C	RFWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2083135	NM_018124.4(RFWD3):c.2182-6C>G	RFWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759942	NM_018124.4(RFWD3):c.2182-9_2182-8del	RFWD3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2749096	NM_018124.4(RFWD3):c.2182-13T>A	RFWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2005944	NM_018124.4(RFWD3):c.2182-14C>G	RFWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977580	NM_018124.4(RFWD3):c.2182-19C>G	RFWD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2767628	NM_018124.4(RFWD3):c.2181+14T>G	RFWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2165568	NM_018124.4(RFWD3):c.2181+9G>C	RFWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880279	NM_018124.4(RFWD3):c.2170A>C (p.Asn724His)	RFWD3 (N446H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2851040	NM_018124.4(RFWD3):c.2167G>C (p.Ala723Pro)	RFWD3 (A723P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193234	NM_018124.4(RFWD3):c.2158G>T (p.Asp720Tyr)	RFWD3 (D442Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2273253	NM_018124.4(RFWD3):c.2152A>G (p.Thr718Ala)	RFWD3 (T659A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2117718	NM_018124.4(RFWD3):c.2146G>A (p.Val716Met)	RFWD3 (V438M +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2877038	NM_018124.4(RFWD3):c.2140A>G (p.Ile714Val)	RFWD3 (I436V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752157	NM_018124.4(RFWD3):c.2138A>C (p.Asn713Thr)	RFWD3 (N654T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174564	NM_018124.4(RFWD3):c.2129A>G (p.Asn710Ser)	RFWD3 (N432S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870283	NM_018124.4(RFWD3):c.2110A>G (p.Ile704Val)	RFWD3 (I645V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877097	NM_018124.4(RFWD3):c.2100C>G (p.Thr700=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976487	NM_018124.4(RFWD3):c.2094A>G (p.Leu698=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413927	NM_018124.4(RFWD3):c.2088C>T (p.Cys696=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106646	NM_018124.4(RFWD3):c.2085T>C (p.Thr695=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787165	NM_018124.4(RFWD3):c.2083A>G (p.Thr695Ala)	RFWD3 (T695A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795784	NM_018124.4(RFWD3):c.2081C>G (p.Pro694Arg)	RFWD3 (P635R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797475	NM_018124.4(RFWD3):c.2070T>C (p.Phe690=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191351	NM_018124.4(RFWD3):c.2063A>G (p.His688Arg)	RFWD3 (H688R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072790	NM_018124.4(RFWD3):c.2063A>T (p.His688Leu)	RFWD3 (H688L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190915	NM_018124.4(RFWD3):c.2059G>A (p.Val687Ile)	RFWD3 (V409I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803122	NM_018124.4(RFWD3):c.2055G>C (p.Gln685His)	RFWD3 (Q685H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848941	NM_018124.4(RFWD3):c.2045G>T (p.Cys682Phe)	RFWD3 (C404F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131838	NM_018124.4(RFWD3):c.2042T>A (p.Ile681Asn)	RFWD3 (I622N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2383340	NM_018124.4(RFWD3):c.2041A>G (p.Ile681Val)	RFWD3 (I403V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2055111	NM_018124.4(RFWD3):c.2040A>G (p.Pro680=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2100129	NM_018124.4(RFWD3):c.2028C>T (p.Asp676=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854379	NM_018124.4(RFWD3):c.2025T>C (p.Asp675=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796824	NM_018124.4(RFWD3):c.2024A>G (p.Asp675Gly)	RFWD3 (D616G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062600	NM_018124.4(RFWD3):c.2018G>A (p.Arg673Gln)	RFWD3 (R673Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2782253	NM_018124.4(RFWD3):c.2017C>T (p.Arg673Ter)	RFWD3 (R395* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2748334	NM_018124.4(RFWD3):c.2013C>A (p.Ser671=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068551	NM_018124.4(RFWD3):c.1996G>A (p.Val666Met)	RFWD3 (V388M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2247387	NM_018124.4(RFWD3):c.1994G>A (p.Ser665Asn)	RFWD3 (S387N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2998594	NM_018124.4(RFWD3):c.1990C>T (p.Arg664Ter)	RFWD3 (R386* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2035363	NM_018124.4(RFWD3):c.1990C>A (p.Arg664=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855291	NM_018124.4(RFWD3):c.1983C>G (p.Thr661=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092244	NM_018124.4(RFWD3):c.1972A>G (p.Lys658Glu)	RFWD3 (K599E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872858	NM_018124.4(RFWD3):c.1970-3T>C	RFWD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2898529	NM_018124.4(RFWD3):c.1970-7C>T	RFWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972328	NM_018124.4(RFWD3):c.1970-14T>C	RFWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776612	NM_018124.4(RFWD3):c.1969+13G>A	RFWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094990	NM_018124.4(RFWD3):c.1969+9T>A	RFWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807145	NM_018124.4(RFWD3):c.1968T>C (p.Pro656=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1993079	NM_018124.4(RFWD3):c.1965G>C (p.Arg655Ser)	RFWD3 (R596S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072040	NM_018124.4(RFWD3):c.1962C>T (p.Tyr654=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787137	NM_018124.4(RFWD3):c.1959C>T (p.Thr653=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740461	NM_018124.4(RFWD3):c.1956G>C (p.Val652=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2801673	NM_018124.4(RFWD3):c.1949G>A (p.Cys650Tyr)	RFWD3 (C591Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2021517	NM_018124.4(RFWD3):c.1943G>A (p.Arg648Gln)	RFWD3 (R370Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029390	NM_018124.4(RFWD3):c.1942C>A (p.Arg648=)	RFWD3	Single nucleotide variant (synonymous variant)	RFWD3-related disorder	GLikely benign
Select item 2106957	NM_018124.4(RFWD3):c.1924C>G (p.Gln642Glu)	RFWD3 (Q364E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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