LOC129996245[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 129

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 904259	NM_021922.3(FANCE):c.-197C>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356435	NM_021922.3(FANCE):c.-182G>A	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 904260	NM_021922.3(FANCE):c.-167C>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 904261	NM_021922.3(FANCE):c.-162G>C	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356436	NM_021922.3(FANCE):c.-132A>G	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 905052	NM_021922.3(FANCE):c.-126T>A	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356437	NM_021922.3(FANCE):c.-105C>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356438	NM_021922.3(FANCE):c.-100C>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GConflicting classifications of pathogenicity
Select item 356439	NM_021922.3(FANCE):c.-56C>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GBenign/Likely benign
Select item 905053	NM_021922.3(FANCE):c.-32A>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356440	NM_021922.3(FANCE):c.-19G>C	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 3047795	NM_021922.3(FANCE):c.-4C>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	FANCE-related disorder	GLikely benign
Select item 1387558	NM_021922.3(FANCE):c.-2_13del (p.Met1_Asp5del)	FANCE, LOC129996245	Deletion (inframe_deletion +1 more)	Fanconi anemia complementation group E	GUncertain significance
Select item 1336320	NM_021922.3(FANCE):c.-3G>C	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1696377	NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del)	FANCE, LOC129996245	Deletion (inframe_deletion +1 more)	Fanconi anemia	GLikely pathogenic
Select item 1060674	NM_021922.3(FANCE):c.2T>C (p.Met1Thr)	FANCE, LOC129996245 (M1T)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group E +1 more	GConflicting classifications of pathogenicity
Select item 2798486	NM_021922.3(FANCE):c.4_13del (p.Ala2fs)	FANCE, LOC129996245 (A2fs)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group E	GPathogenic
Select item 356441	NM_021922.3(FANCE):c.4G>C (p.Ala2Pro)	FANCE, LOC129996245 (A2P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2038882	NM_021922.3(FANCE):c.5C>T (p.Ala2Val)	FANCE, LOC129996245 (A2V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1319658	NM_021922.3(FANCE):c.8C>T (p.Thr3Ile)	FANCE, LOC129996245 (T3I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 929568	NM_021922.3(FANCE):c.9A>C (p.Thr3=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2239350	NM_021922.3(FANCE):c.11C>T (p.Pro4Leu)	FANCE, LOC129996245 (P4L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1691918	NM_021922.3(FANCE):c.12G>A (p.Pro4=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 847695	NM_021922.3(FANCE):c.14A>T (p.Asp5Val)	FANCE, LOC129996245 (D5V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2164401	NM_021922.3(FANCE):c.15_16delinsAC (p.Asp5_Ala6delinsGluPro)	FANCE, LOC129996245	Indel (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1153881	NM_021922.3(FANCE):c.15C>T (p.Asp5=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 958078	NM_021922.3(FANCE):c.17C>T (p.Ala6Val)	FANCE, LOC129996245 (A6V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2675550	NM_021922.3(FANCE):c.24_33del (p.Pro9fs)	FANCE, LOC129996245 (P9fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 1621650	NM_021922.3(FANCE):c.18G>T (p.Ala6=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2043023	NM_021922.3(FANCE):c.22C>T (p.Leu8Phe)	FANCE, LOC129996245 (L8F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1960655	NM_021922.3(FANCE):c.25C>T (p.Pro9Ser)	FANCE, LOC129996245 (P9S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1477550	NM_021922.3(FANCE):c.25C>A (p.Pro9Thr)	FANCE, LOC129996245 (P9T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2744800	NM_021922.3(FANCE):c.29G>A (p.Gly10Glu)	FANCE, LOC129996245 (G10E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 408158	NM_021922.3(FANCE):c.31G>A (p.Ala11Thr)	FANCE, LOC129996245 (A11T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1723603	NM_021922.3(FANCE):c.36G>T (p.Glu12Asp)	FANCE, LOC129996245 (E12D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3013625	NM_021922.3(FANCE):c.39C>T (p.Gly13=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2992534	NM_021922.3(FANCE):c.51G>T (p.Ala17=)	LOC129996245, FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 134331	NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)	FANCE, LOC129996245 (P18S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 858230	NM_021922.3(FANCE):c.53C>T (p.Pro18Leu)	FANCE, LOC129996245 (P18L)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 2158123	NM_021922.3(FANCE):c.54C>T (p.Pro18=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2632785	NM_021922.3(FANCE):c.57G>A (p.Trp19Ter)	FANCE, LOC129996245 (W19*)	Single nucleotide variant (nonsense)	FANCE-related disorder	GLikely pathogenic
Select item 2964765	NM_021922.3(FANCE):c.59C>A (p.Ala20Glu)	FANCE, LOC129996245 (A20E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1384658	NM_021922.3(FANCE):c.59C>T (p.Ala20Val)	FANCE, LOC129996245 (A20V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 645170	NM_021922.3(FANCE):c.65T>C (p.Leu22Pro)	LOC129996245, FANCE (L22P)	Single nucleotide variant (missense variant)	See cases +2 more	GUncertain significance
Select item 1696376	NM_021922.3(FANCE):c.71_72insGGG (p.Ala24_Pro25insGly)	FANCE, LOC129996245	Insertion (inframe_insertion)	not specified	GUncertain significance
Select item 1037871	NM_021922.3(FANCE):c.71C>A (p.Ala24Asp)	FANCE, LOC129996245 (A24D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2173658	NM_021922.3(FANCE):c.74C>T (p.Pro25Leu)	FANCE, LOC129996245 (P25L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2843595	NM_021922.3(FANCE):c.75_98del (p.Ala26_Leu33del)	FANCE, LOC129996245	Deletion (inframe_deletion)	Fanconi anemia complementation group E	GUncertain significance
Select item 2724778	NM_021922.3(FANCE):c.75C>T (p.Pro25=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1135986	NM_021922.3(FANCE):c.84C>T (p.Leu28=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2725247	NM_021922.3(FANCE):c.88CTGCAGGCG[3] (p.Ala35_Gly36insLeuGlnAla)	FANCE, LOC129996245	Microsatellite (inframe_insertion)	Fanconi anemia complementation group E	GUncertain significance
Select item 1343699	NM_021922.3(FANCE):c.86T>A (p.Leu29Gln)	FANCE, LOC129996245 (L29Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 539300	NM_021922.3(FANCE):c.88CTGCAGGCG[1] (p.30LQA[1])	FANCE, LOC129996245	Microsatellite (inframe_deletion)	Fanconi anemia complementation group E	GUncertain significance
Select item 929569	NM_021922.3(FANCE):c.91C>T (p.Gln31Ter)	FANCE, LOC129996245 (Q31*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic
Select item 134332	NM_021922.3(FANCE):c.94G>A (p.Ala32Thr)	FANCE, LOC129996245 (A32T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 1018160	NM_021922.3(FANCE):c.95C>A (p.Ala32Glu)	FANCE, LOC129996245 (A32E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2962414	NM_021922.3(FANCE):c.96G>T (p.Ala32=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2675533	NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)	FANCE, LOC129996245 (Q34*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic/Likely pathogenic
Select item 1327103	NM_021922.3(FANCE):c.104C>T (p.Ala35Val)	FANCE, LOC129996245 (A35V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2836862	NM_021922.3(FANCE):c.105G>C (p.Ala35=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2180577	NM_021922.3(FANCE):c.105G>A (p.Ala35=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2909688	NM_021922.3(FANCE):c.108G>T (p.Gly36=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2858233	NM_021922.3(FANCE):c.112G>T (p.Glu38Ter)	FANCE, LOC129996245 (E38*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic
Select item 2675552	NM_021922.3(FANCE):c.117_136del (p.Arg41fs)	FANCE, LOC129996245 (R41fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675542	NM_021922.3(FANCE):c.118del (p.Ala40fs)	FANCE, LOC129996245 (A40fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GPathogenic/Likely pathogenic
Select item 2675554	NM_021922.3(FANCE):c.125_129dup (p.Leu44fs)	FANCE, LOC129996245 (L44fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 1366958	NM_021922.3(FANCE):c.118G>C (p.Ala40Pro)	FANCE, LOC129996245 (A40P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 906637	NM_021922.3(FANCE):c.121C>T (p.Arg41Trp)	FANCE, LOC129996245 (R41W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 949590	NM_021922.3(FANCE):c.127G>A (p.Gly43Ser)	FANCE, LOC129996245 (G43S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1481129	NM_021922.3(FANCE):c.128G>A (p.Gly43Asp)	FANCE, LOC129996245 (G43D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1446270	NM_021922.3(FANCE):c.128G>T (p.Gly43Val)	FANCE, LOC129996245 (G43V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 861398	NM_021922.3(FANCE):c.133G>C (p.Gly45Arg)	FANCE, LOC129996245 (G45R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 3015977	NM_021922.3(FANCE):c.134G>A (p.Gly45Glu)	FANCE, LOC129996245 (G45E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2048867	NM_021922.3(FANCE):c.134G>T (p.Gly45Val)	FANCE, LOC129996245 (G45V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1401850	NM_021922.3(FANCE):c.136G>T (p.Val46Leu)	FANCE, LOC129996245 (V46L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1111074	NM_021922.3(FANCE):c.138G>A (p.Val46=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2188716	NM_021922.3(FANCE):c.139C>T (p.Leu47Phe)	FANCE, LOC129996245 (L47F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2726855	NM_021922.3(FANCE):c.141C>T (p.Leu47=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1466115	NM_021922.3(FANCE):c.145G>A (p.Ala49Thr)	FANCE, LOC129996245 (A49T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1314290	NM_021922.3(FANCE):c.145G>C (p.Ala49Pro)	FANCE, LOC129996245 (A49P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +2 more	GConflicting classifications of pathogenicity
Select item 705317	NM_021922.3(FANCE):c.148C>T (p.Leu50=)	LOC129996245, FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1019331	NM_021922.3(FANCE):c.149T>C (p.Leu50Pro)	FANCE, LOC129996245 (L50P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GUncertain significance
Select item 3021619	NM_021922.3(FANCE):c.153C>T (p.Gly51=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1900733	NM_021922.3(FANCE):c.157C>T (p.Arg53Cys)	FANCE, LOC129996245 (R53C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 3019314	NM_021922.3(FANCE):c.159C>G (p.Arg53=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2445290	NM_021922.3(FANCE):c.161G>A (p.Gly54Asp)	FANCE, LOC129996245 (G54D)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2837050	NM_021922.3(FANCE):c.162C>T (p.Gly54=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1338638	NM_021922.3(FANCE):c.164G>A (p.Trp55Ter)	FANCE, LOC129996245 (W55*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E +1 more	GPathogenic/Likely pathogenic
Select item 1490748	NM_021922.3(FANCE):c.169C>A (p.Pro57Thr)	FANCE, LOC129996245 (P57T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 577756	NM_021922.3(FANCE):c.169C>T (p.Pro57Ser)	FANCE, LOC129996245 (P57S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 3003572	NM_021922.3(FANCE):c.174C>T (p.Phe58=)	LOC129996245, FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 642951	NM_021922.3(FANCE):c.175G>T (p.Asp59Tyr)	FANCE, LOC129996245 (D59Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1381359	NM_021922.3(FANCE):c.181G>C (p.Gly61Arg)	LOC129996245, FANCE (G61R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1484876	NM_021922.3(FANCE):c.189G>T (p.Leu63Phe)	FANCE, LOC129996245 (L63F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2985176	NM_021922.3(FANCE):c.192C>G (p.Leu64=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 809924	NM_021922.3(FANCE):c.199C>A (p.Leu67Met)	FANCE, LOC129996245 (L67M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GUncertain significance
Select item 701225	NM_021922.3(FANCE):c.199C>T (p.Leu67=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1005762	NM_021922.3(FANCE):c.200T>C (p.Leu67Pro)	FANCE, LOC129996245 (L67P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 471924	NM_021922.3(FANCE):c.206G>A (p.Arg69Gln)	FANCE, LOC129996245 (R69Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2