ClinVar for Gene (Select 27145) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278891	NM_015687.5(FILIP1):c.1729G>A (p.Gly577Ser)	FILIP1 (G577S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278890	NM_015687.5(FILIP1):c.530G>A (p.Arg177Lys)	FILIP1 (R180K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278889	NM_015687.5(FILIP1):c.242T>A (p.Ile81Asn)	FILIP1, LOC101928540 (I81N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278888	NM_015687.5(FILIP1):c.1832C>T (p.Thr611Ile)	FILIP1 (T611I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278887	NM_015687.5(FILIP1):c.1798C>T (p.Leu600Phe)	FILIP1 (L603F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278886	NM_015687.5(FILIP1):c.200G>C (p.Arg67Pro)	FILIP1, LOC101928540 (R70P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278885	NM_015687.5(FILIP1):c.3425C>A (p.Thr1142Asn)	FILIP1 (T1142N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246043	NC_000006.11:g.(?_75827078)_(76640888_?)dup	COL12A1, COX7A2 +5 more	Duplication	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 3095234	NM_015687.5(FILIP1):c.73G>A (p.Gly25Ser)	FILIP1, LOC101928540 (G25S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095233	NM_015687.5(FILIP1):c.638A>C (p.Lys213Thr)	FILIP1 (K216T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095232	NM_015687.5(FILIP1):c.491G>A (p.Arg164His)	FILIP1 (R167H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095231	NM_015687.5(FILIP1):c.3359C>G (p.Pro1120Arg)	FILIP1 (P1120R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095230	NM_015687.5(FILIP1):c.3101G>A (p.Arg1034Gln)	FILIP1 (R1034Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095229	NM_015687.5(FILIP1):c.3100C>T (p.Arg1034Trp)	FILIP1 (R1037W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095228	NM_015687.5(FILIP1):c.2434G>A (p.Gly812Ser)	FILIP1 (G815S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095227	NM_015687.5(FILIP1):c.1082A>G (p.Glu361Gly)	FILIP1 (E364G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066462	NM_015687.5(FILIP1):c.3398C>T (p.Pro1133Leu)	FILIP1 (P1133L +1 more)	Single nucleotide variant (missense variant)	Neuromuscular disorder, congenital, with dysmorphic facies	GPathogenic
Select item 3066461	NM_015687.5(FILIP1):c.169C>T (p.Arg57Ter)	FILIP1, LOC101928540 (R57* +1 more)	Single nucleotide variant (nonsense)	Neuromuscular disorder, congenital, with dysmorphic facies	GPathogenic
Select item 3066460	NC_000006.12:g.75288632_75374566del	FILIP1, LOC126859714 +1 more	Deletion	Neuromuscular disorder, congenital, with dysmorphic facies	GPathogenic
Select item 3066459	NM_015687.5(FILIP1):c.2665C>T (p.Arg889Ter)	FILIP1 (R889* +1 more)	Single nucleotide variant (nonsense)	Neuromuscular disorder, congenital, with dysmorphic facies	GPathogenic
Select item 3066458	NM_015687.5(FILIP1):c.463G>T (p.Glu155Ter)	FILIP1 (E155* +1 more)	Single nucleotide variant (nonsense)	Neuromuscular disorder, congenital, with dysmorphic facies	GPathogenic
Select item 2656708	NM_015687.5(FILIP1):c.516C>T (p.Ala172=)	FILIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611424	NM_015687.5(FILIP1):c.1313T>C (p.Leu438Ser)	FILIP1 (L438S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593227	NM_015687.5(FILIP1):c.910G>A (p.Glu304Lys)	FILIP1 (E304K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592030	NM_015687.5(FILIP1):c.745A>C (p.Met249Leu)	FILIP1 (M252L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569702	NM_015687.5(FILIP1):c.533G>A (p.Arg178His)	FILIP1 (R178H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558191	NM_015687.5(FILIP1):c.2049G>T (p.Glu683Asp)	FILIP1 (E686D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543096	NM_015687.5(FILIP1):c.2414T>C (p.Val805Ala)	FILIP1 (V805A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540563	NM_015687.5(FILIP1):c.1683G>A (p.Met561Ile)	FILIP1 (M561I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537175	NM_015687.5(FILIP1):c.31G>A (p.Ala11Thr)	FILIP1, LOC101928540 (A11T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526158	NM_015687.5(FILIP1):c.3440G>C (p.Gly1147Ala)	FILIP1 (G1150A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508107	NM_015687.5(FILIP1):c.2883G>A (p.Met961Ile)	FILIP1 (M964I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494381	NM_015687.5(FILIP1):c.1088G>A (p.Arg363Lys)	FILIP1 (R363K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485769	NM_015687.5(FILIP1):c.2081T>C (p.Ile694Thr)	FILIP1 (I694T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483196	NM_015687.5(FILIP1):c.1790A>G (p.Lys597Arg)	FILIP1 (K597R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467862	NM_015687.5(FILIP1):c.3094A>G (p.Met1032Val)	FILIP1 (M1032V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458139	NM_015687.5(FILIP1):c.1156C>T (p.Arg386Cys)	FILIP1 (R386C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404437	NM_015687.5(FILIP1):c.131G>A (p.Arg44Lys)	FILIP1, LOC101928540 (R47K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395383	NM_015687.5(FILIP1):c.416T>C (p.Ile139Thr)	FILIP1, LOC126859714 (I142T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393052	NM_015687.5(FILIP1):c.3484A>C (p.Met1162Leu)	FILIP1 (M1162L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384039	NM_015687.5(FILIP1):c.3629G>T (p.Gly1210Val)	FILIP1 (G1213V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370936	NM_015687.5(FILIP1):c.298A>G (p.Met100Val)	FILIP1, LOC126859714 (M103V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370935	NM_015687.5(FILIP1):c.169C>G (p.Arg57Gly)	FILIP1, LOC101928540 (R57G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369808	NM_015687.5(FILIP1):c.647A>C (p.Glu216Ala)	FILIP1 (E219A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362991	NM_015687.5(FILIP1):c.2402C>T (p.Thr801Met)	FILIP1 (T801M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343493	NM_015687.5(FILIP1):c.3629G>C (p.Gly1210Ala)	FILIP1 (G1210A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340539	NM_015687.5(FILIP1):c.164T>A (p.Val55Asp)	FILIP1, LOC101928540 (V55D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335699	NM_015687.5(FILIP1):c.1266A>C (p.Arg422Ser)	FILIP1 (R422S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318388	NM_015687.5(FILIP1):c.2516G>A (p.Arg839Gln)	FILIP1 (R842Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315705	NM_015687.5(FILIP1):c.2983G>A (p.Gly995Arg)	FILIP1 (G998R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295280	NM_015687.5(FILIP1):c.1488T>G (p.Asp496Glu)	FILIP1 (D499E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292196	NM_015687.5(FILIP1):c.1643T>C (p.Ile548Thr)	FILIP1 (I551T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288218	NM_015687.5(FILIP1):c.440C>T (p.Pro147Leu)	FILIP1, LOC126859714 (P147L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284465	NM_015687.5(FILIP1):c.2934G>A (p.Met978Ile)	FILIP1 (M978I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283060	NM_015687.5(FILIP1):c.157G>C (p.Gly53Arg)	FILIP1, LOC101928540 (G53R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280920	NM_015687.5(FILIP1):c.3029T>G (p.Met1010Arg)	FILIP1 (M1010R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279026	NM_015687.5(FILIP1):c.2341C>T (p.Arg781Cys)	FILIP1 (R781C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260235	NM_015687.5(FILIP1):c.727C>T (p.Leu243Phe)	FILIP1 (L243F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256263	NM_015687.5(FILIP1):c.689C>T (p.Ala230Val)	FILIP1 (A233V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242290	NM_015687.5(FILIP1):c.2877C>A (p.Asn959Lys)	FILIP1 (N959K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241189	NM_015687.5(FILIP1):c.2473C>T (p.Arg825Trp)	FILIP1 (R825W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240089	NM_015687.5(FILIP1):c.1946T>C (p.Val649Ala)	FILIP1 (V649A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216175	NM_015687.5(FILIP1):c.583A>C (p.Asn195His)	FILIP1 (N198H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211521	NM_015687.5(FILIP1):c.373C>T (p.Arg125Trp)	FILIP1, LOC126859714 (R128W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211319	NM_015687.5(FILIP1):c.1157G>A (p.Arg386His)	FILIP1 (R386H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209991	NM_015687.5(FILIP1):c.592G>A (p.Asp198Asn)	FILIP1 (D201N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205896	NM_015687.5(FILIP1):c.3337A>G (p.Arg1113Gly)	FILIP1 (R1113G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703664	GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	ADGRB3, B3GAT2 +32 more	Copy number loss	Chromosome 6q11-q14 deletion syndrome	GPathogenic
Select item 1527252	GRCh37/hg19 6q13-14.1(chr6:75889207-76522602)	COL12A1, COX7A2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1341303	GRCh37/hg19 6q14.1(chr6:76202330-76274406)x1	FILIP1	Copy number loss	not provided	GLikely benign
Select item 1341189	GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1	BCKDHB, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 1340605	GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1	B3GAT2, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 980211	GRCh37/hg19 6q13-14.1(chr6:74226559-80208037)x1	IRAK1BP1, CD109 +13 more	Copy number loss	not provided	GPathogenic
Select item 814831	GRCh37/hg19 6q14.1(chr6:76147293-76567615)x3	SENP6, FILIP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814830	GRCh37/hg19 6q13-14.1(chr6:75899299-76343518)x3	TMEM30A, SENP6 +3 more	Copy number gain	not provided	GUncertain significance
Select item 719710	NM_015687.5(FILIP1):c.3007C>T (p.Pro1003Ser)	FILIP1 (P1006S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718854	NM_015687.5(FILIP1):c.1129A>G (p.Met377Val)	FILIP1 (M380V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718441	NM_015687.5(FILIP1):c.837A>G (p.Glu279=)	FILIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718440	NM_015687.5(FILIP1):c.3377C>T (p.Thr1126Met)	FILIP1 (T1126M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 709053	NM_015687.5(FILIP1):c.2134T>C (p.Leu712=)	FILIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	BCKDHB, CD109 +40 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 208958	NM_015687.5(FILIP1):c.923C>T (p.Ser308Leu)	FILIP1 (S308L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 208957	NM_015687.5(FILIP1):c.1483A>G (p.Lys495Glu)	FILIP1 (K495E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 208956	NM_015687.5(FILIP1):c.3316G>C (p.Gly1106Arg)	FILIP1 (G1106R +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 90