2335[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57418	GRCh38/hg38 2q34-35(chr2:213912976-215939299)x3	ABCA12, ATIC +36 more	Copy number gain	See cases	GUncertain significance
Select item 145317	GRCh38/hg38 2q35(chr2:214785851-215383000)x3	ABCA12, ATIC +11 more	Copy number gain	See cases	GUncertain significance
Select item 974724	NC_000002.12:g.215349854_215435010del	ATIC, FN1 +6 more	Deletion	Megacolon	GUncertain significance
Select item 1212591	NM_212482.4(FN1):c.*130C>T	ATIC, FN1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2911209	NM_212482.4(FN1):c.7427G>A (p.Arg2476Gln)	ATIC, FN1 (R2265Q +16 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 915862	NM_212482.4(FN1):c.7408G>C (p.Ala2470Pro)	ATIC, FN1 (A2260P +16 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1368582	NM_212482.4(FN1):c.7402G>A (p.Val2468Ile)	ATIC, FN1 (V2321I +16 more)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 2152588	NM_212482.4(FN1):c.7401T>A (p.Asp2467Glu)	FN1, ATIC (D2321E +16 more)	Single nucleotide variant (missense variant)	not provided	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 1344882	NM_212482.4(FN1):c.7379T>C (p.Ile2460Thr)	ATIC, FN1 (I2159T +16 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GLikely pathogenic
Select item 1169554	NM_212482.4(FN1):c.7368T>G (p.Val2456=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1495269	NM_212482.4(FN1):c.7366G>A (p.Val2456Ile)	ATIC, FN1 (V2155I +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589584	NM_212482.4(FN1):c.7363-19C>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1587702	NM_212482.4(FN1):c.7363-20del	ATIC, FN1	Deletion (intron variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign/Likely benign
Select item 1203210	NM_212482.4(FN1):c.7363-30A>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191771	NM_212482.4(FN1):c.7363-44C>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209464	NM_212482.4(FN1):c.7363-72dup	ATIC, FN1	Duplication (intron variant)	not provided	GLikely benign
Select item 1201817	NM_212482.4(FN1):c.7362+97_7362+98dup	ATIC, FN1	Duplication (intron variant)	not provided	GLikely benign
Select item 1191483	NM_212482.4(FN1):c.7362+107del	ATIC, FN1	Deletion (intron variant)	not provided	GLikely benign
Select item 1211335	NM_212482.4(FN1):c.7362+62C>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1222395	NM_212482.4(FN1):c.7362+50T>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2798642	NM_212482.4(FN1):c.7362+20A>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784056	NM_212482.4(FN1):c.7362+8C>G	ATIC, FN1	Single nucleotide variant (intron 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 2776616	NM_212482.4(FN1):c.7362+2dup	ATIC, FN1	Duplication (splice donor 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 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 1961429	NM_212482.4(FN1):c.7335T>C (p.Ser2445=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1035792	NM_212482.4(FN1):c.7310C>T (p.Thr2437Ile)	ATIC, FN1 (T2136I +16 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1966987	NM_212482.4(FN1):c.7308T>C (p.Thr2436=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961972	NM_212482.4(FN1):c.7299C>T (p.Pro2433=)	ATIC, FN1	Single nucleotide variant (synonymous 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 1618073	NM_212482.4(FN1):c.7295G>C (p.Ser2432Thr)	ATIC, FN1 (S2131T +16 more)	Single nucleotide variant (missense variant)	FN1-related disorder +1 more	GBenign/Likely benign
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 2049126	NC_000002.12:g.215362057_215362082dup	ATIC, FN1	Duplication (genic downstream transcript variant)	not provided	GUncertain significance
Select item 759638	NM_212482.4(FN1):c.7274G>A (p.Arg2425His)	ATIC, FN1 (R2213H +16 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1314343	NM_212482.4(FN1):c.7268A>G (p.Asn2423Ser)	FN1, ATIC (N2122S +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1468785	NM_212482.4(FN1):c.7252_7266dup (p.Gly2418_Asp2422dup)	ATIC, FN1	Duplication (inframe_insertion)	not provided	GUncertain significance
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 1719977	NM_212482.4(FN1):c.7257G>C (p.Trp2419Cys)	ATIC, FN1 (W2118C +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2724982	NM_212482.4(FN1):c.7252-8TC[2]	ATIC, FN1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1940485	NM_212482.4(FN1):c.7252-10A>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991614	NM_212482.4(FN1):c.7252-14C>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231996	NM_212482.4(FN1):c.7252-151C>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231131	NM_212482.4(FN1):c.7251+201C>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212101	NM_212482.4(FN1):c.7251+78del	ATIC, FN1	Deletion (intron variant)	not provided	GLikely benign
Select item 1618517	NM_212482.4(FN1):c.7251+7C>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1700784	NM_212482.4(FN1):c.7251+5G>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	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 1450527	NM_212482.4(FN1):c.7249C>T (p.Arg2417Trp)	ATIC, FN1 (R2271W +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1046470	NM_212482.4(FN1):c.7213G>A (p.Gly2405Ser)	ATIC, FN1 (G2193S +16 more)	Single nucleotide variant (missense variant)	not provided +1 more	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
Select item 738235	NM_212482.4(FN1):c.7209T>C (p.Tyr2403=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2382847	NM_212482.4(FN1):c.7183G>A (p.Val2395Ile)	ATIC, FN1 (V2214I +16 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 789933	NM_212482.4(FN1):c.7182C>T (p.His2394=)	FN1, ATIC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1356070	NM_212482.4(FN1):c.7169G>C (p.Gly2390Ala)	ATIC, FN1 (G2089A +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1484159	NM_212482.4(FN1):c.7160ATG[2] (p.Asp2389del)	ATIC, FN1 (D2088del +16 more)	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
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 1169959	NM_212482.4(FN1):c.7161T>C (p.Tyr2387=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign
Select item 2894230	NM_212482.4(FN1):c.7155G>A (p.Thr2385=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2728725	NM_212482.4(FN1):c.7145-14G>C	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868507	NM_212482.4(FN1):c.7145-19G>C	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285899	NM_212482.4(FN1):c.7145-142G>A	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196796	NM_212482.4(FN1):c.7144+202del	ATIC, FN1	Deletion (intron variant)	not provided	GLikely benign
Select item 1194790	NM_212482.4(FN1):c.7144+197A>C	FN1, ATIC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254500	NM_212482.4(FN1):c.7144+195A>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286015	NM_212482.4(FN1):c.7144+147A>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1636421	NM_212482.4(FN1):c.7144+12C>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294058	NM_212482.4(FN1):c.7144+12C>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1704308	NM_212482.4(FN1):c.7144+1G>A	ATIC, FN1	Single nucleotide variant (splice donor variant)	Glomerulopathy with fibronectin deposits 2	GLikely pathogenic
Select item 3008015	NM_212482.4(FN1):c.7134G>A (p.Lys2378=)	FN1, ATIC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1633386	NM_212482.4(FN1):c.7131C>T (p.Phe2377=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960514	NM_212482.4(FN1):c.7119A>G (p.Gly2373=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555984	NM_212482.4(FN1):c.7116C>T (p.Asn2372=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GLikely benign
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 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 2176963	NM_212482.4(FN1):c.7071T>A (p.Arg2357=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1482572	NM_212482.4(FN1):c.7070G>A (p.Arg2357His)	ATIC, FN1 (R2120H +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487177	NM_212482.4(FN1):c.7069C>T (p.Arg2357Cys)	ATIC, FN1 (R2056C +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	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 2707215	NM_212482.4(FN1):c.7038T>G (p.Gly2346=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1411702	NM_212482.4(FN1):c.7034A>G (p.Asn2345Ser)	ATIC, FN1 (N2199S +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1633273	NM_212482.4(FN1):c.7020A>G (p.Arg2340=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945716	NM_212482.4(FN1):c.7019-4A>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910083	NM_212482.4(FN1):c.7019-5dup	ATIC, FN1	Duplication (intron variant)	not provided	GLikely benign
Select item 2894699	NM_212482.4(FN1):c.7019-7C>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212163	NM_212482.4(FN1):c.7019-150A>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294065	NM_212482.4(FN1):c.7019-179_7019-177del	ATIC, FN1	Deletion (intron variant)	not provided	GBenign

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