3482[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997593, LOC129997594 +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	LOC126859906, LOC126859907 +539 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	LOC126859863, LOC126859864 +270 more	Copy number loss	See cases	GPathogenic
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	LOC129997603, LOC129997604 +115 more	Copy number gain	See cases	GUncertain significance
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	ACAT2, AFDN +339 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	LOC113174973, LOC116183078 +321 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 915431	NM_000876.4(IGF2R):c.52_58del (p.Arg18fs)	IGF2R, LOC129997612 (R18fs)	Microsatellite (frameshift variant)	Hepatocellular carcinoma	GLikely pathogenic
Select item 1173093	NM_000876.4(IGF2R):c.50G>C (p.Arg17Pro)	IGF2R, LOC129997612 (R17P)	Single nucleotide variant (missense variant)	Hepatocellular carcinoma	GUncertain significance
Select item 2469871	NM_000876.4(IGF2R):c.196A>G (p.Ile66Val)	IGF2R (I66V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367759	NM_000876.4(IGF2R):c.220A>G (p.Ile74Val)	IGF2R (I74V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2358214	NM_000876.4(IGF2R):c.247G>A (p.Val83Ile)	IGF2R (V83I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473938	NM_000876.4(IGF2R):c.310G>A (p.Ala104Thr)	IGF2R (A104T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481193	NM_000876.4(IGF2R):c.352G>A (p.Asp118Asn)	IGF2R (D118N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 929753	NM_000876.4(IGF2R):c.451C>T (p.His151Tyr)	IGF2R (H151Y)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 2289186	NM_000876.4(IGF2R):c.475G>A (p.Ala159Thr)	IGF2R (A159T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283720	NM_000876.4(IGF2R):c.476C>A (p.Ala159Glu)	IGF2R (A159E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657098	NM_000876.4(IGF2R):c.603C>T (p.Ser201=)	IGF2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2251992	NM_000876.4(IGF2R):c.604G>C (p.Asp202His)	IGF2R (D202H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387389	NM_000876.4(IGF2R):c.614C>T (p.Thr205Ile)	IGF2R (T205I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244111	NM_000876.4(IGF2R):c.686C>G (p.Pro229Arg)	IGF2R (P229R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789187	NM_000876.4(IGF2R):c.694A>G (p.Thr232Ala)	IGF2R (T232A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2307722	NM_000876.4(IGF2R):c.723G>T (p.Gln241His)	IGF2R (Q241H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657099	NM_000876.4(IGF2R):c.726G>A (p.Ala242=)	IGF2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711038	NM_000876.4(IGF2R):c.745C>T (p.Arg249Trp)	IGF2R (R249W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2508973	NM_000876.4(IGF2R):c.766C>T (p.Arg256Cys)	IGF2R (R256C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216372	NM_000876.4(IGF2R):c.818A>G (p.Asp273Gly)	IGF2R (D273G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 764776	NM_000876.4(IGF2R):c.861T>A (p.Val287=)	IGF2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2399499	NM_000876.4(IGF2R):c.1093G>A (p.Val365Ile)	IGF2R (V365I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246010	NM_000876.4(IGF2R):c.1127A>C (p.Lys376Thr)	IGF2R (K376T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262442	NM_000876.4(IGF2R):c.1192T>G (p.Tyr398Asp)	IGF2R (Y398D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527176	NM_000876.4(IGF2R):c.1240T>C (p.Tyr414His)	IGF2R (Y414H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210941	NM_000876.4(IGF2R):c.1316G>A (p.Gly439Asp)	IGF2R (G439D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411280	NM_000876.4(IGF2R):c.1333A>T (p.Thr445Ser)	IGF2R (T445S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2524498	NM_000876.4(IGF2R):c.1409A>G (p.Lys470Arg)	IGF2R (K470R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613541	NM_000876.4(IGF2R):c.1417C>A (p.Leu473Ile)	IGF2R (L473I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241344	NM_000876.4(IGF2R):c.1426G>A (p.Gly476Ser)	IGF2R (G476S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2330884	NM_000876.4(IGF2R):c.1489C>A (p.Gln497Lys)	IGF2R (Q497K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657100	NM_000876.4(IGF2R):c.1548T>C (p.Ile516=)	IGF2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601819	NM_000876.4(IGF2R):c.1604C>T (p.Ala535Val)	IGF2R (A535V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388385	NM_000876.4(IGF2R):c.1654A>G (p.Ile552Val)	IGF2R (I552V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2372676	NM_000876.4(IGF2R):c.1664C>T (p.Pro555Leu)	IGF2R (P555L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492056	NM_000876.4(IGF2R):c.1670A>G (p.Lys557Arg)	IGF2R (K557R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657101	NM_000876.4(IGF2R):c.1845G>A (p.Ala615=)	IGF2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2297929	NM_000876.4(IGF2R):c.1968G>C (p.Lys656Asn)	IGF2R (K656N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497732	NM_000876.4(IGF2R):c.2015G>C (p.Cys672Ser)	IGF2R (C672S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2558067	NM_000876.4(IGF2R):c.2030G>T (p.Gly677Val)	IGF2R (G677V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375718	NM_000876.4(IGF2R):c.2159A>G (p.His720Arg)	IGF2R (H720R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657102	NM_000876.4(IGF2R):c.2190C>G (p.Leu730=)	IGF2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2324079	NM_000876.4(IGF2R):c.2258G>A (p.Arg753Gln)	IGF2R (R753Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315829	NM_000876.4(IGF2R):c.2264A>T (p.Tyr755Phe)	IGF2R (Y755F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496332	NM_000876.4(IGF2R):c.2302G>A (p.Val768Ile)	IGF2R (V768I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375779	NM_000876.4(IGF2R):c.2314C>T (p.Pro772Ser)	IGF2R (P772S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569207	NM_000876.4(IGF2R):c.2321C>T (p.Thr774Met)	IGF2R (T774M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553595	NM_000876.4(IGF2R):c.2344A>C (p.Ser782Arg)	IGF2R (S782R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774073	NM_000876.4(IGF2R):c.2345+8A>G	IGF2R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2548343	NM_000876.4(IGF2R):c.2369T>G (p.Leu790Arg)	IGF2R (L790R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 771868	NM_000876.4(IGF2R):c.2449C>G (p.Leu817Val)	IGF2R (L817V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785199	NM_000876.4(IGF2R):c.2481A>G (p.Ala827=)	IGF2R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1801774	NM_000876.4(IGF2R):c.2566G>A (p.Gly856Ser)	IGF2R (G856S)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 2309969	NM_000876.4(IGF2R):c.2587G>A (p.Gly863Ser)	IGF2R (G863S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657103	NM_000876.4(IGF2R):c.2625C>T (p.Cys875=)	IGF2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362551	NM_000876.4(IGF2R):c.2660C>T (p.Thr887Met)	IGF2R (T887M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523341	NM_000876.4(IGF2R):c.2685G>T (p.Arg895Ser)	IGF2R (R895S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657104	NM_000876.4(IGF2R):c.2858C>T (p.Ser953Leu)	IGF2R (S953L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2548105	NM_000876.4(IGF2R):c.2938C>G (p.Leu980Val)	IGF2R (L980V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310744	NM_000876.4(IGF2R):c.2980G>A (p.Glu994Lys)	IGF2R (E994K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237015	NM_000876.4(IGF2R):c.3275A>G (p.Asn1092Ser)	IGF2R (N1092S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776180	NM_000876.4(IGF2R):c.3320C>T (p.Thr1107Met)	IGF2R (T1107M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2657105	NM_000876.4(IGF2R):c.3377A>G (p.Asn1126Ser)	IGF2R (N1126S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2528055	NM_000876.4(IGF2R):c.3479A>G (p.Gln1160Arg)	IGF2R (Q1160R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390054	NM_000876.4(IGF2R):c.3638C>G (p.Thr1213Ser)	IGF2R (T1213S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 978483	NM_000876.4(IGF2R):c.3654C>T (p.Pro1218=)	IGF2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 161474	NM_000876.4(IGF2R):c.3670+2T>C	IGF2R	Single nucleotide variant (splice donor variant)	Malignant tumor of prostate	GUncertain significance
Select item 2559201	NM_000876.4(IGF2R):c.3677A>G (p.Asn1226Ser)	IGF2R (N1226S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1050219	NM_000876.4(IGF2R):c.3753C>T (p.Ser1251=)	IGF2R	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2363456	NM_000876.4(IGF2R):c.3754G>A (p.Ala1252Thr)	IGF2R (A1252T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727287	NM_000876.4(IGF2R):c.3804C>T (p.Asp1268=)	IGF2R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2485659	NM_000876.4(IGF2R):c.3868G>A (p.Gly1290Arg)	IGF2R (G1290R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708477	NM_000876.4(IGF2R):c.4004G>A (p.Arg1335His)	IGF2R (R1335H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2262857	NM_000876.4(IGF2R):c.4044T>G (p.Asp1348Glu)	IGF2R (D1348E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597315	NM_000876.4(IGF2R):c.4093G>A (p.Asp1365Asn)	IGF2R (D1365N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359731	NM_000876.4(IGF2R):c.4162A>G (p.Ser1388Gly)	IGF2R (S1388G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784102	NM_000876.4(IGF2R):c.4239G>A (p.Pro1413=)	IGF2R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2210233	NM_000876.4(IGF2R):c.4256C>T (p.Pro1419Leu)	IGF2R (P1419L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367196	NM_000876.4(IGF2R):c.4277C>T (p.Ala1426Val)	IGF2R (A1426V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 14795	NM_000876.4(IGF2R):c.4346G>T (p.Gly1449Val)	IGF2R (G1449V)	Single nucleotide variant (missense variant)	Hepatocellular carcinoma	GPathogenic
Select item 2657106	NM_000876.4(IGF2R):c.4347C>T (p.Gly1449=)	IGF2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 14796	NM_000876.4(IGF2R):c.4391G>A (p.Gly1464Glu)	IGF2R (G1464E)	Single nucleotide variant (missense variant)	Hepatocellular carcinoma	GPathogenic
Select item 785200	NM_000876.4(IGF2R):c.4449C>T (p.Ser1483=)	IGF2R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2236489	NM_000876.4(IGF2R):c.4502C>G (p.Pro1501Arg)	IGF2R (P1501R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288871	NM_000876.4(IGF2R):c.4648A>C (p.Met1550Leu)	IGF2R (M1550L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456157	NM_000876.4(IGF2R):c.4687G>A (p.Val1563Met)	IGF2R (V1563M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268373	NM_000876.4(IGF2R):c.4808G>A (p.Gly1603Asp)	IGF2R (G1603D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657107	NM_000876.4(IGF2R):c.4878C>T (p.Leu1626=)	IGF2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2374953	NM_000876.4(IGF2R):c.4970G>A (p.Gly1657Glu)	IGF2R (G1657E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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