1910[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 2243841	NM_005483.3(CHAF1A):c.31G>A (p.Gly11Ser)	CHAF1A (G11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144036	NM_005483.3(CHAF1A):c.38G>A (p.Arg13Lys)	CHAF1A (R13K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362988	NM_005483.3(CHAF1A):c.151G>A (p.Asp51Asn)	CHAF1A (D51N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319242	NM_005483.3(CHAF1A):c.208G>A (p.Ala70Thr)	CHAF1A (A70T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282445	NM_005483.3(CHAF1A):c.209C>T (p.Ala70Val)	CHAF1A (A70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781378	NM_005483.3(CHAF1A):c.210C>G (p.Ala70=)	CHAF1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2289901	NM_005483.3(CHAF1A):c.284A>T (p.Lys95Met)	CHAF1A (K95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387514	NM_005483.3(CHAF1A):c.319G>A (p.Glu107Lys)	CHAF1A (E107K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144035	NM_005483.3(CHAF1A):c.329T>C (p.Ile110Thr)	CHAF1A (I110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294090	NM_005483.3(CHAF1A):c.368C>T (p.Ser123Leu)	CHAF1A (S123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398667	NM_005483.3(CHAF1A):c.388C>T (p.Leu130Phe)	CHAF1A (L130F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144037	NM_005483.3(CHAF1A):c.452G>A (p.Arg151Gln)	CHAF1A (R151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266781	NM_005483.3(CHAF1A):c.464G>C (p.Gly155Ala)	CHAF1A (G155A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606737	NM_005483.3(CHAF1A):c.523A>G (p.Thr175Ala)	CHAF1A (T175A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237374	NM_005483.3(CHAF1A):c.613C>T (p.Arg205Trp)	CHAF1A (R205W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144038	NM_005483.3(CHAF1A):c.629T>C (p.Leu210Pro)	CHAF1A (L210P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469586	NM_005483.3(CHAF1A):c.700A>G (p.Lys234Glu)	CHAF1A (K234E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378948	NM_005483.3(CHAF1A):c.722T>G (p.Val241Gly)	CHAF1A (V241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278000	NM_005483.3(CHAF1A):c.739G>C (p.Ala247Pro)	CHAF1A (A247P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144039	NM_005483.3(CHAF1A):c.752C>G (p.Pro251Arg)	CHAF1A (P251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144041	NM_005483.3(CHAF1A):c.793A>G (p.Met265Val)	CHAF1A (M265V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144042	NM_005483.3(CHAF1A):c.805A>G (p.Ser269Gly)	CHAF1A (S269G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144043	NM_005483.3(CHAF1A):c.856T>G (p.Ser286Ala)	CHAF1A (S286A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144044	NM_005483.3(CHAF1A):c.896C>T (p.Pro299Leu)	CHAF1A (P299L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266778	NM_005483.3(CHAF1A):c.938C>T (p.Pro313Leu)	CHAF1A (P313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256250	NM_005483.3(CHAF1A):c.944C>A (p.Ser315Tyr)	CHAF1A (S315Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213154	NM_005483.3(CHAF1A):c.956G>A (p.Arg319His)	CHAF1A (R319H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57480	GRCh38/hg38 19p13.3(chr19:4417986-4721866)x1	CHAF1A, DPP9 +33 more	Copy number loss	See cases	GUncertain significance
Select item 2216469	NM_005483.3(CHAF1A):c.973T>A (p.Phe325Ile)	CHAF1A (F325I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339801	NM_005483.3(CHAF1A):c.1052G>A (p.Arg351His)	CHAF1A (R351H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306986	NM_005483.3(CHAF1A):c.1072G>A (p.Glu358Lys)	CHAF1A (E358K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144021	NM_005483.3(CHAF1A):c.1105G>C (p.Glu369Gln)	CHAF1A (E369Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144022	NM_005483.3(CHAF1A):c.1120A>C (p.Lys374Gln)	CHAF1A (K374Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604647	NM_005483.3(CHAF1A):c.1160G>A (p.Arg387Gln)	CHAF1A (R387Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275824	NM_005483.3(CHAF1A):c.1278A>C (p.Glu426Asp)	CHAF1A (E426D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144023	NM_005483.3(CHAF1A):c.1361C>T (p.Thr454Ile)	CHAF1A (T454I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363768	NM_005483.3(CHAF1A):c.1448G>A (p.Arg483His)	CHAF1A (R483H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507671	NM_005483.3(CHAF1A):c.1456G>A (p.Ala486Thr)	CHAF1A (A486T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461864	NM_005483.3(CHAF1A):c.1461C>A (p.Phe487Leu)	CHAF1A (F487L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144024	NM_005483.3(CHAF1A):c.1509C>G (p.Ser503Arg)	CHAF1A (S503R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341199	NM_005483.3(CHAF1A):c.1582C>T (p.Arg528Trp)	CHAF1A (R528W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144025	NM_005483.3(CHAF1A):c.1625G>A (p.Arg542His)	CHAF1A (R542H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484816	NM_005483.3(CHAF1A):c.1648G>A (p.Glu550Lys)	CHAF1A (E550K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477883	NM_005483.3(CHAF1A):c.1762G>T (p.Ala588Ser)	CHAF1A (A588S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266777	NM_005483.3(CHAF1A):c.1852G>A (p.Gly618Arg)	CHAF1A (G618R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550402	NM_005483.3(CHAF1A):c.1873G>A (p.Gly625Arg)	CHAF1A (G625R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308952	NM_005483.3(CHAF1A):c.1880A>T (p.Asp627Val)	CHAF1A (D627V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266780	NM_005483.3(CHAF1A):c.2059G>C (p.Gly687Arg)	CHAF1A (G687R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266775	NM_005483.3(CHAF1A):c.2065G>A (p.Val689Met)	CHAF1A (V689M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604771	NM_005483.3(CHAF1A):c.2084A>G (p.Asp695Gly)	CHAF1A (D695G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144027	NM_005483.3(CHAF1A):c.2147C>T (p.Pro716Leu)	CHAF1A (P716L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266779	NM_005483.3(CHAF1A):c.2177C>T (p.Ser726Phe)	CHAF1A (S726F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144028	NM_005483.3(CHAF1A):c.2183G>A (p.Arg728Gln)	CHAF1A (R728Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144029	NM_005483.3(CHAF1A):c.2196C>G (p.Asp732Glu)	CHAF1A (D732E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144030	NM_005483.3(CHAF1A):c.2197G>C (p.Glu733Gln)	CHAF1A (E733Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404597	NM_005483.3(CHAF1A):c.2197G>A (p.Glu733Lys)	CHAF1A (E733K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588252	NM_005483.3(CHAF1A):c.2282G>A (p.Cys761Tyr)	CHAF1A (C761Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266776	NM_005483.3(CHAF1A):c.2287C>T (p.Arg763Trp)	CHAF1A (R763W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216182	NM_005483.3(CHAF1A):c.2342T>G (p.Leu781Arg)	CHAF1A (L781R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272040	NM_005483.3(CHAF1A):c.2374A>G (p.Ile792Val)	CHAF1A (I792V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2271968	NM_005483.3(CHAF1A):c.2425G>A (p.Glu809Lys)	CHAF1A (E809K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144031	NM_005483.3(CHAF1A):c.2531C>T (p.Ser844Leu)	CHAF1A (S844L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454863	NM_005483.3(CHAF1A):c.2576C>T (p.Thr859Met)	CHAF1A (T859M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144032	NM_005483.3(CHAF1A):c.2624G>T (p.Gly875Val)	CHAF1A (G875V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323688	NM_005483.3(CHAF1A):c.2651A>C (p.Lys884Thr)	CHAF1A (K884T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287909	NM_005483.3(CHAF1A):c.2659A>T (p.Arg887Trp)	CHAF1A (R887W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459210	NM_005483.3(CHAF1A):c.2711C>T (p.Thr904Met)	CHAF1A (T904M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144033	NM_005483.3(CHAF1A):c.2759C>T (p.Pro920Leu)	CHAF1A (P920L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738314	NM_005483.3(CHAF1A):c.2771-9G>A	CHAF1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2326451	NM_005483.3(CHAF1A):c.2791G>T (p.Ala931Ser)	CHAF1A (A931S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256551	NM_005483.3(CHAF1A):c.2809G>C (p.Gly937Arg)	CHAF1A (G937R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250530	NM_005483.3(CHAF1A):c.2827A>G (p.Thr943Ala)	CHAF1A (T943A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2221783	NM_005483.3(CHAF1A):c.2830G>A (p.Gly944Ser)	CHAF1A (G944S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144034	NM_005483.3(CHAF1A):c.2855C>T (p.Pro952Leu)	CHAF1A (P952L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330751	NM_025241.3(UBXN6):c.1307C>G (p.Ala436Gly)	CHAF1A, UBXN6 (A436G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311089	NM_025241.3(UBXN6):c.1294G>A (p.Glu432Lys)	CHAF1A, UBXN6 (E379K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185921	NM_025241.3(UBXN6):c.1272G>C (p.Glu424Asp)	CHAF1A, UBXN6 (E424D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233448	NM_025241.3(UBXN6):c.1270G>A (p.Glu424Lys)	CHAF1A, UBXN6 (E371K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263062	NM_025241.3(UBXN6):c.1262C>T (p.Ala421Val)	CHAF1A, UBXN6 (A421V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330750	NM_025241.3(UBXN6):c.1252A>G (p.Ile418Val)	CHAF1A, UBXN6 (I365V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364942	NM_025241.3(UBXN6):c.1240G>A (p.Val414Met)	CHAF1A, UBXN6 (V361M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185920	NM_025241.3(UBXN6):c.1237G>A (p.Ala413Thr)	CHAF1A, UBXN6 (A360T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614187	NM_025241.3(UBXN6):c.1090G>T (p.Gly364Trp)	CHAF1A, UBXN6 (G311W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330753	NM_025241.3(UBXN6):c.1033G>T (p.Asp345Tyr)	CHAF1A, UBXN6 (D345Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345819	NM_025241.3(UBXN6):c.973A>G (p.Lys325Glu)	CHAF1A, UBXN6 (K272E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276493	NM_025241.3(UBXN6):c.953G>A (p.Arg318Gln)	CHAF1A, UBXN6 (R265Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185930	NM_025241.3(UBXN6):c.950T>C (p.Leu317Pro)	CHAF1A, UBXN6 (L264P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281201	NM_025241.3(UBXN6):c.946G>C (p.Val316Leu)	CHAF1A, UBXN6 (V263L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604896	NM_025241.3(UBXN6):c.938G>A (p.Arg313Gln)	CHAF1A, UBXN6 (R313Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365281	NM_025241.3(UBXN6):c.938G>T (p.Arg313Leu)	CHAF1A, UBXN6 (R313L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3185929	NM_025241.3(UBXN6):c.937C>T (p.Arg313Trp)	CHAF1A, UBXN6 (R313W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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