IGFN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC122149345, LOC122149346 +166 more	Copy number loss	See cases	GPathogenic
Select item 2312330	NM_001164586.2(IGFN1):c.8G>A (p.Gly3Glu)	IGFN1 (G3E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259362	NM_001164586.2(IGFN1):c.31C>T (p.Pro11Ser)	IGFN1 (P11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370098	NM_001164586.2(IGFN1):c.38T>G (p.Val13Gly)	IGFN1 (V13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252484	NM_001164586.2(IGFN1):c.42C>A (p.Ser14Arg)	IGFN1 (S14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108712	NM_001164586.2(IGFN1):c.65T>G (p.Ile22Ser)	IGFN1 (I22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639747	NM_001164586.2(IGFN1):c.105C>T (p.Pro35=)	IGFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3108660	NM_001164586.2(IGFN1):c.106G>A (p.Val36Ile)	IGFN1 (V36I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2496333	NM_001164586.2(IGFN1):c.106G>C (p.Val36Leu)	IGFN1 (V36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474406	NM_001164586.2(IGFN1):c.136G>T (p.Ala46Ser)	IGFN1 (A46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371794	NM_001164586.2(IGFN1):c.145C>T (p.Arg49Trp)	IGFN1 (R49W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348507	NM_001164586.2(IGFN1):c.165G>T (p.Glu55Asp)	IGFN1 (E55D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411135	NM_001164586.2(IGFN1):c.182G>A (p.Arg61His)	IGFN1 (R61H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2405596	NM_001164586.2(IGFN1):c.271A>T (p.Asn91Tyr)	IGFN1 (N91Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204778	NM_001164586.2(IGFN1):c.272A>G (p.Asn91Ser)	IGFN1 (N91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108681	NM_001164586.2(IGFN1):c.334G>T (p.Ala112Ser)	IGFN1 (A112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354842	NM_001164586.2(IGFN1):c.346G>T (p.Val116Leu)	IGFN1 (V116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108685	NM_001164586.2(IGFN1):c.385C>T (p.Arg129Trp)	IGFN1 (R129W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108688	NM_001164586.2(IGFN1):c.404C>T (p.Pro135Leu)	IGFN1 (P135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230615	NM_001164586.2(IGFN1):c.440G>A (p.Arg147Gln)	IGFN1 (R147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312538	NM_001164586.2(IGFN1):c.487G>A (p.Asp163Asn)	IGFN1 (D163N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522389	NM_001164586.2(IGFN1):c.565G>A (p.Val189Ile)	IGFN1 (V189I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108706	NM_001164586.2(IGFN1):c.626T>C (p.Met209Thr)	IGFN1 (M209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511299	NM_001164586.2(IGFN1):c.683G>A (p.Gly228Glu)	IGFN1 (G228E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108728	NM_001164586.2(IGFN1):c.800G>A (p.Arg267His)	IGFN1 (R267H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108729	NM_001164586.2(IGFN1):c.803G>A (p.Arg268Gln)	IGFN1 (R268Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108730	NM_001164586.2(IGFN1):c.814C>T (p.Arg272Cys)	IGFN1 (R272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639748	NM_001164586.2(IGFN1):c.822G>A (p.Glu274=)	IGFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2274610	NM_001164586.2(IGFN1):c.834A>C (p.Gln278His)	IGFN1 (Q278H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108747	NM_001164586.2(IGFN1):c.992C>A (p.Thr331Asn)	IGFN1 (T331N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383661	NM_001164586.2(IGFN1):c.1010C>T (p.Pro337Leu)	IGFN1 (P337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362385	NM_001164586.2(IGFN1):c.1047C>A (p.His349Gln)	IGFN1 (H349Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2484576	NM_001164586.2(IGFN1):c.1079C>T (p.Pro360Leu)	IGFN1 (P360L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491727	NM_001164586.2(IGFN1):c.1083C>G (p.Asp361Glu)	IGFN1 (D361E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354972	NM_001164586.2(IGFN1):c.1096C>T (p.Arg366Trp)	IGFN1 (R366W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400133	NM_001164586.2(IGFN1):c.1117C>T (p.Arg373Cys)	IGFN1 (R373C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108663	NM_001164586.2(IGFN1):c.1118G>A (p.Arg373His)	IGFN1 (R373H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108664	NM_001164586.2(IGFN1):c.1135C>G (p.Pro379Ala)	IGFN1 (P379A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312466	NM_001164586.2(IGFN1):c.1163C>T (p.Thr388Ile)	IGFN1 (T388I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514222	NM_001164586.2(IGFN1):c.1171G>T (p.Ala391Ser)	IGFN1 (A391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304931	NM_001164586.2(IGFN1):c.1226A>G (p.Asp409Gly)	IGFN1 (D409G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288903	NM_001164586.2(IGFN1):c.1235T>A (p.Leu412Gln)	IGFN1 (L412Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210657	NM_001164586.2(IGFN1):c.1265C>T (p.Ala422Val)	IGFN1 (A422V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108665	NM_001164586.2(IGFN1):c.1272G>T (p.Glu424Asp)	IGFN1 (E424D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2527220	NM_001164586.2(IGFN1):c.1387G>A (p.Asp463Asn)	IGFN1 (D463N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454585	NM_001164586.2(IGFN1):c.1412C>A (p.Ser471Tyr)	IGFN1 (S471Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108666	NM_001164586.2(IGFN1):c.1418T>C (p.Met473Thr)	IGFN1 (M473T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275379	NM_001164586.2(IGFN1):c.1424A>G (p.Asp475Gly)	IGFN1 (D475G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230943	NM_001164586.2(IGFN1):c.1543G>A (p.Ala515Thr)	IGFN1 (A515T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249918	NM_001164586.2(IGFN1):c.1789T>C (p.Trp597Arg)	IGFN1 (W597R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284225	NM_001164586.2(IGFN1):c.1823G>A (p.Ser608Asn)	IGFN1 (S608N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108667	NM_001164586.2(IGFN1):c.1880T>C (p.Ile627Thr)	IGFN1 (I627T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272970	NM_001164586.2(IGFN1):c.1916A>C (p.Asp639Ala)	IGFN1 (D639A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262172	NM_001164586.2(IGFN1):c.1945G>T (p.Gly649Trp)	IGFN1 (G649W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602440	NM_001164586.2(IGFN1):c.1982T>A (p.Leu661Gln)	IGFN1 (L661Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108668	NM_001164586.2(IGFN1):c.2011G>A (p.Gly671Arg)	IGFN1 (G671R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108669	NM_001164586.2(IGFN1):c.2107G>C (p.Ala703Pro)	IGFN1 (A703P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394516	NM_001164586.2(IGFN1):c.2116G>T (p.Gly706Trp)	IGFN1 (G706W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108670	NM_001164586.2(IGFN1):c.2279G>A (p.Cys760Tyr)	IGFN1 (C760Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351305	NM_001164586.2(IGFN1):c.2281C>T (p.Arg761Trp)	IGFN1 (R761W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108671	NM_001164586.2(IGFN1):c.2353G>A (p.Glu785Lys)	IGFN1 (E785K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218253	NM_001164586.2(IGFN1):c.2387G>A (p.Gly796Asp)	IGFN1 (G796D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2544293	NM_001164586.2(IGFN1):c.2411G>T (p.Gly804Val)	IGFN1 (G804V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545526	NM_001164586.2(IGFN1):c.2458A>G (p.Thr820Ala)	IGFN1 (T820A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539664	NM_001164586.2(IGFN1):c.2515C>G (p.Pro839Ala)	IGFN1 (P839A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108672	NM_001164586.2(IGFN1):c.2537G>A (p.Ser846Asn)	IGFN1 (S846N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509528	NM_001164586.2(IGFN1):c.2537G>T (p.Ser846Ile)	IGFN1 (S846I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108673	NM_001164586.2(IGFN1):c.2546A>G (p.Lys849Arg)	IGFN1 (K849R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346217	NM_001164586.2(IGFN1):c.2566C>T (p.Pro856Ser)	IGFN1 (P856S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2250807	NM_001164586.2(IGFN1):c.2634G>T (p.Glu878Asp)	IGFN1 (E878D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108674	NM_001164586.2(IGFN1):c.2678C>G (p.Ala893Gly)	IGFN1 (A893G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108675	NM_001164586.2(IGFN1):c.2761C>T (p.Pro921Ser)	IGFN1 (P921S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273929	NM_001164586.2(IGFN1):c.2807G>A (p.Arg936Lys)	IGFN1 (R936K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385516	NM_001164586.2(IGFN1):c.2842C>T (p.Pro948Ser)	IGFN1 (P948S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244022	NM_001164586.2(IGFN1):c.2884T>G (p.Ser962Ala)	IGFN1 (S962A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596173	NM_001164586.2(IGFN1):c.2908G>A (p.Gly970Arg)	IGFN1 (G970R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463747	NM_001164586.2(IGFN1):c.2930C>T (p.Ser977Leu)	IGFN1 (S977L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108677	NM_001164586.2(IGFN1):c.2968G>T (p.Gly990Cys)	IGFN1 (G990C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278161	NM_001164586.2(IGFN1):c.3017G>C (p.Gly1006Ala)	IGFN1 (G1006A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278309	NM_001164586.2(IGFN1):c.3049G>T (p.Gly1017Trp)	IGFN1 (G1017W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332252	NM_001164586.2(IGFN1):c.3085G>A (p.Ala1029Thr)	IGFN1 (A1029T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243861	NM_001164586.2(IGFN1):c.3112A>T (p.Ser1038Cys)	IGFN1 (S1038C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390704	NM_001164586.2(IGFN1):c.3130G>C (p.Gly1044Arg)	IGFN1 (G1044R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108678	NM_001164586.2(IGFN1):c.3260G>A (p.Gly1087Asp)	IGFN1 (G1087D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382985	NM_001164586.2(IGFN1):c.3278C>T (p.Ala1093Val)	IGFN1 (A1093V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639749	NM_001164586.2(IGFN1):c.3285A>C (p.Gly1095=)	IGFN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3108679	NM_001164586.2(IGFN1):c.3302G>A (p.Gly1101Glu)	IGFN1 (G1101E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108680	NM_001164586.2(IGFN1):c.3349C>T (p.Pro1117Ser)	IGFN1 (P1117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108682	NM_001164586.2(IGFN1):c.3356G>A (p.Gly1119Asp)	IGFN1 (G1119D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108683	NM_001164586.2(IGFN1):c.3433T>C (p.Ser1145Pro)	IGFN1 (S1145P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590529	NM_001164586.2(IGFN1):c.3533C>G (p.Ala1178Gly)	IGFN1 (A1178G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221100	NM_001164586.2(IGFN1):c.3577G>A (p.Ala1193Thr)	IGFN1 (A1193T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367781	NM_001164586.2(IGFN1):c.3590G>C (p.Gly1197Ala)	IGFN1 (G1197A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108684	NM_001164586.2(IGFN1):c.3595G>A (p.Ala1199Thr)	IGFN1 (A1199T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342457	NM_001164586.2(IGFN1):c.3712G>A (p.Gly1238Ser)	IGFN1 (G1238S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557942	NM_001164586.2(IGFN1):c.3725G>T (p.Arg1242Met)	IGFN1 (R1242M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480772	NM_001164586.2(IGFN1):c.3737C>G (p.Pro1246Arg)	IGFN1 (P1246R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350705	NM_001164586.2(IGFN1):c.3740G>C (p.Gly1247Ala)	IGFN1 (G1247A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599288	NM_001164586.2(IGFN1):c.3817G>A (p.Gly1273Ser)	IGFN1 (G1273S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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