ClinVar for Gene (Select 471) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354094	NM_212482.4(FN1):c.7259G>A (p.Arg2420His)	ATIC, FN1 (R2119H +16 more)	Single nucleotide variant (missense variant)	FN1-related disorder	GUncertain significance
Select item 3321593	NM_004044.7(ATIC):c.1181T>C (p.Val394Ala)	ATIC (V394A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321583	NM_004044.7(ATIC):c.1612T>C (p.Ser538Pro)	ATIC (S538P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321573	NM_004044.7(ATIC):c.164C>T (p.Thr55Met)	ATIC (T55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279370	NM_212482.4(FN1):c.6995G>C (p.Gly2332Ala)	ATIC, FN1 (G2095A +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255147	NM_212482.4(FN1):c.7229G>A (p.Cys2410Tyr)	ATIC, FN1 (C2109Y +16 more)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2	GUncertain significance
Select item 3247179	NC_000002.11:g.(?_215632196)_(216212339_?)dup	ABCA12, ATIC +1 more	Duplication	Familial cancer of breast	GUncertain significance
Select item 3131056	NM_004044.7(ATIC):c.931A>G (p.Arg311Gly)	ATIC (R311G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131053	NM_004044.7(ATIC):c.212C>T (p.Ala71Val)	ATIC (A71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131052	NM_004044.7(ATIC):c.1702G>A (p.Asp568Asn)	ATIC (D568N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131051	NM_004044.7(ATIC):c.1592T>A (p.Leu531Gln)	ATIC (L531Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131050	NM_004044.7(ATIC):c.1057A>G (p.Ile353Val)	ATIC (I353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058388	NM_004044.7(ATIC):c.102C>T (p.Ser34=)	ATIC	Single nucleotide variant (synonymous variant)	ATIC-related disorder	GLikely benign
Select item 3053406	NM_004044.7(ATIC):c.1542A>G (p.Glu514=)	ATIC	Single nucleotide variant (synonymous variant)	ATIC-related disorder	GLikely benign
Select item 3016131	NM_212482.4(FN1):c.7266C>A (p.Asp2422Glu)	ATIC, FN1 (D2121E +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014541	NM_212482.4(FN1):c.7018A>G (p.Arg2340Gly)	ATIC, FN1 (R2103G +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008015	NM_212482.4(FN1):c.7134G>A (p.Lys2378=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2986308	NM_212482.4(FN1):c.6982G>A (p.Gly2328Ser)	ATIC, FN1 (G2118S +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981233	NM_004044.7(ATIC):c.379+15C>G	ATIC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976150	NM_004044.7(ATIC):c.533C>T (p.Ala178Val)	ATIC (A178V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966791	NM_004044.7(ATIC):c.814+9C>T	ATIC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955225	NM_212482.4(FN1):c.7253G>A (p.Gly2418Asp)	ATIC, FN1 (G2208D +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911209	NM_212482.4(FN1):c.7427G>A (p.Arg2476Gln)	ATIC, FN1 (R2265Q +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2896250	NM_212482.4(FN1):c.7168G>A (p.Gly2390Arg)	ATIC, FN1 (G2089R +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894699	NM_212482.4(FN1):c.7019-7C>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894230	NM_212482.4(FN1):c.7155G>A (p.Thr2385=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2886894	NM_212482.4(FN1):c.7346A>G (p.His2449Arg)	ATIC, FN1 (H2238R +16 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2885043	NM_004044.7(ATIC):c.1504-7C>T	ATIC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2868507	NM_212482.4(FN1):c.7145-19G>C	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816406	NM_212482.4(FN1):c.7297C>T (p.Pro2433Ser)	ATIC, FN1 (P2196S +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799015	NM_212482.4(FN1):c.6863G>C (p.Gly2288Ala)	ATIC, FN1 (G2076A +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798642	NM_212482.4(FN1):c.7362+20A>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791842	NM_004044.7(ATIC):c.1634G>A (p.Arg545Gln)	ATIC (R545Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784056	NM_212482.4(FN1):c.7362+8C>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776616	NM_212482.4(FN1):c.7362+2dup	ATIC, FN1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2764765	NM_212482.4(FN1):c.7041G>C (p.Val2347=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758901	NM_212482.4(FN1):c.7362+4A>C	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2750737	NM_004044.7(ATIC):c.420T>C (p.Ala140=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736244	NM_004044.7(ATIC):c.1715T>C (p.Ile572Thr)	ATIC (I572T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2733660	NM_212482.4(FN1):c.6951A>G (p.Glu2317=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2728725	NM_212482.4(FN1):c.7145-14G>C	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724982	NM_212482.4(FN1):c.7252-8TC[2]	ATIC, FN1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2723095	NM_004044.7(ATIC):c.545C>T (p.Thr182Met)	ATIC (T182M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717912	NM_212482.4(FN1):c.6878C>T (p.Thr2293Met)	ATIC, FN1 (T2082M +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717572	NM_004044.7(ATIC):c.590A>G (p.Tyr197Cys)	ATIC (Y197C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713713	NM_004044.7(ATIC):c.366G>A (p.Glu122=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713260	NM_004044.7(ATIC):c.1139C>T (p.Thr380Ile)	ATIC (T380I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711940	NM_212482.4(FN1):c.7077A>T (p.Gly2359=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707215	NM_212482.4(FN1):c.7038T>G (p.Gly2346=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701715	NM_004044.7(ATIC):c.461T>C (p.Val154Ala)	ATIC (V154A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697535	NM_212482.4(FN1):c.7355C>T (p.Thr2452Ile)	ATIC, FN1 (T2241I +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651868	NM_004044.7(ATIC):c.19+94G>A	ATIC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2626876	NM_004044.7(ATIC):c.260A>G (p.Asp87Gly)	ATIC (D87G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2619162	NM_004044.7(ATIC):c.1004G>C (p.Arg335Thr)	ATIC (R335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602969	NM_004044.7(ATIC):c.1651G>A (p.Ala551Thr)	ATIC (A551T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591947	NM_004044.7(ATIC):c.1679C>T (p.Ala560Val)	ATIC (A560V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2558875	NM_004044.7(ATIC):c.1540G>A (p.Glu514Lys)	ATIC (E514K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557848	NM_004044.7(ATIC):c.544A>T (p.Thr182Ser)	ATIC (T182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554473	NM_004044.7(ATIC):c.428C>G (p.Thr143Arg)	ATIC (T143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550986	NM_004044.7(ATIC):c.1373C>G (p.Ala458Gly)	ATIC (A458G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535223	NM_004044.7(ATIC):c.389C>G (p.Thr130Ser)	ATIC (T130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528020	NM_004044.7(ATIC):c.1453G>A (p.Ala485Thr)	ATIC (A485T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515257	NM_004044.7(ATIC):c.1408C>T (p.His470Tyr)	ATIC (H470Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502861	GRCh37/hg19 2q34-35(chr2:215074747-216700700)x1	ABCA12, ATIC +4 more	Copy number loss	See cases	GLikely benign
Select item 2488014	NM_004044.7(ATIC):c.52G>C (p.Val18Leu)	ATIC (V18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479291	NM_004044.7(ATIC):c.720G>C (p.Leu240Phe)	ATIC (L240F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469434	NM_004044.7(ATIC):c.1717G>A (p.Glu573Lys)	ATIC (E573K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462636	NM_004044.7(ATIC):c.1528G>A (p.Ala510Thr)	ATIC (A510T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2460623	NM_004044.7(ATIC):c.779C>T (p.Pro260Leu)	ATIC (P260L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455948	NM_004044.7(ATIC):c.1366C>T (p.Arg456Cys)	ATIC (R456C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2439310	NM_004044.7(ATIC):c.131delinsGCA (p.Ala44fs)	ATIC (A44fs)	Indel (frameshift variant)	AICA-ribosiduria	GUncertain significance
Select item 2413719	NM_212482.4(FN1):c.6922G>A (p.Val2308Ile)	ATIC, FN1 (V2007I +16 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2409632	NM_004044.7(ATIC):c.1642G>A (p.Val548Ile)	ATIC (V548I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407284	NM_004044.7(ATIC):c.1252C>G (p.Leu418Val)	ATIC (L418V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384638	NM_004044.7(ATIC):c.932G>A (p.Arg311Lys)	ATIC (R311K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382847	NM_212482.4(FN1):c.7183G>A (p.Val2395Ile)	ATIC, FN1 (V2214I +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2361995	NM_004044.7(ATIC):c.236G>A (p.Arg79His)	ATIC (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327416	NM_004044.7(ATIC):c.871G>A (p.Asp291Asn)	ATIC (D291N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321680	NM_004044.7(ATIC):c.1363A>C (p.Thr455Pro)	ATIC (T455P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320891	NM_004044.7(ATIC):c.112G>A (p.Ala38Thr)	ATIC (A38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287435	NM_212482.4(FN1):c.7154C>T (p.Thr2385Met)	ATIC, FN1 (T2148M +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278009	NM_212482.4(FN1):c.7193A>T (p.Gln2398Leu)	ATIC, FN1 (Q2161L +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264606	NM_212482.4(FN1):c.7393C>G (p.Pro2465Ala)	ATIC, FN1 (P2164A +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257182	NM_004044.7(ATIC):c.272T>C (p.Leu91Pro)	ATIC (L91P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256974	NM_212482.4(FN1):c.7285G>A (p.Gly2429Ser)	ATIC, FN1 (G2217S +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249604	NM_004044.7(ATIC):c.1435A>G (p.Lys479Glu)	ATIC (K479E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227555	NM_004044.7(ATIC):c.1327G>A (p.Gly443Ser)	ATIC (G443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217384	NM_004044.7(ATIC):c.563C>G (p.Ala188Gly)	ATIC (A188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2176984	NM_212482.4(FN1):c.7251G>A (p.Arg2417=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2176963	NM_212482.4(FN1):c.7071T>A (p.Arg2357=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152712	NM_004044.7(ATIC):c.688+3A>G	ATIC	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 2152588	NM_212482.4(FN1):c.7401T>A (p.Asp2467Glu)	ATIC, FN1 (D2321E +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132862	NM_004044.7(ATIC):c.923-2del	ATIC	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2097234	NM_212482.4(FN1):c.7165G>C (p.Asp2389His)	ATIC, FN1 (D2242H +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095960	NM_212482.4(FN1):c.7076G>T (p.Gly2359Val)	ATIC, FN1 (G2212V +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085654	NM_004044.7(ATIC):c.165G>A (p.Thr55=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077557	NM_212482.4(FN1):c.6858C>T (p.Asn2286=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2076277	NM_212482.4(FN1):c.7426C>T (p.Arg2476Ter)	ATIC, FN1 (R2329* +16 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2074175	NM_212482.4(FN1):c.7212C>T (p.Leu2404=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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