ClinVar for MedGen (Select 41825) - ClinVar

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Items: 36

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6349981.	dup(11)(q13.1q13.1) GRCh37: Chr11:63533279-65429676	ARL2, ATG2A, BAD, BATF2, CAPN1, CATSPERZ, CCDC88B, CDC42BPG, CDC42EP2, CDCA5, COX8A, DNAJC4, DPF2, EHBP1L1, EHD1, ESRRA, FAM89B, FAU, FERMT3, FKBP2, FLRT1, FRMD8, GPHA2, GPR137, KCNK4, KCNK7, LTBP3, MACROD1, MAJIN, MALAT1, MAP3K11, MAP4K2, MARK2, MEN1, MIR192, MIR194-2, MRPL49, NAA40, NAALADL1, NEAT1, NRXN2, NUDT22, OTUB1, PCNX3, PLCB3, POLA2, PPP1R14B, PPP2R5B, PRDX5, PYGM, RASGRP2, RCOR2, RELA, RPS6KA4, SAC3D1, SCYL1, SF1, SIPA1, SLC22A11, SLC22A12, SLC25A45, SNX15, SPDYC, SPINDOC, STIP1, SYVN1, TIGD3, TM7SF2, TRMT112, TRPT1, VEGFB, VPS51, ZFPL1, ZFTA, ZNHIT2, ZNRD2		Ependymoma	Likely pathogenic (May 21, 2019)	no assertion criteria provided
Select item 6206042.	NM_020975.6(RET):c.1202G>A (p.Ser401Asn) GRCh37: Chr10:43604617 GRCh38: Chr10:43109169	RET	S401N, S147N, S305N, S358N, S71N, S159N, S255N	Ependymoma	Uncertain significance (Aug 26, 2016)	criteria provided, single submitter
Select item 5655443.	NM_000251.3(MSH2):c.482T>C (p.Val161Ala) GRCh37: Chr2:47637348 GRCh38: Chr2:47410209	MSH2	V161A, V95A	Hereditary cancer-predisposing syndrome, Ependymoma, Hereditary nonpolyposis colorectal neoplasms	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 4878104.	NM_001252024.2(TRPM1):c.283A>C (p.Ile95Leu) GRCh37: Chr15:31360292 GRCh38: Chr15:31068089	TRPM1	I73L, I112L, I95L	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 4878095.	NM_139177.4(SLC39A11):c.595G>T (p.Val199Phe) GRCh37: Chr17:70845779 GRCh38: Chr17:72849640	SLC39A11	V199F, V206F	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 4878086.	NM_024577.4(SH3TC2):c.3016del (p.Ser1006fs) GRCh37: Chr5:148406172 GRCh38: Chr5:149026609	SH3TC2	S1006fs	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 4878077.	NM_006078.5(CACNG2):c.541T>C (p.Tyr181His) GRCh37: Chr22:36960829 GRCh38: Chr22:36564782	CACNG2	Y181H, Y158H	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 4878068.	NM_032777.10(ADGRA2):c.1316_1334del (p.Asn439fs) GRCh37: Chr8:37691223-37691241 GRCh38: Chr8:37833705-37833723	ADGRA2	N439fs	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 4878059.	NM_182961.4(SYNE1):c.11097C>G (p.Phe3699Leu) GRCh37: Chr6:152674554 GRCh38: Chr6:152353419	SYNE1	F3684L, F3699L	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48780410.	NC_012920.1:m.11032delA GRCh37: ChrMT:11032 GRCh38: ChrMT:11032	MT-ND4		Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48780311.	NM_000404.4(GLB1):c.1903G>C (p.Ala635Pro) GRCh37: Chr3:33038668 GRCh38: Chr3:32997176	GLB1	A635P, A605P, A504P, A683P	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48780212.	NM_000198.4(HSD3B2):c.1004G>A (p.Arg335Gln) GRCh37: Chr1:119965128 GRCh38: Chr1:119422505	HSD3B2	R335Q	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48780113.	NM_006440.5(TXNRD2):c.1432G>C (p.Ala478Pro) GRCh37: Chr22:19865626 GRCh38: Chr22:19878103	TXNRD2	A478P, A477P, A382P, A448P	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48780014.	NM_012318.3(LETM1):c.286G>A (p.Val96Met) GRCh37: Chr4:1843382 GRCh38: Chr4:1841655	LETM1	V96M	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48779915.	NM_145725.3(TRAF3):c.53C>G (p.Pro18Arg) GRCh37: Chr14:103336591 GRCh38: Chr14:102870254	TRAF3	P18R	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48779816.	NM_003618.4(MAP4K3):c.899T>C (p.Phe300Ser) GRCh37: Chr2:39552678 GRCh38: Chr2:39325537	MAP4K3	F300S	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48779717.	NM_004690.4(LATS1):c.2365G>C (p.Asp789His) GRCh37: Chr6:150001239 GRCh38: Chr6:149680103	LATS1	D509H, D684H, D789H	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48779618.	NM_000268.4(NF2):c.551G>A (p.Trp184Ter) GRCh37: Chr22:30051617 GRCh38: Chr22:29655628	NF2	W184, W101, W142, W143	Ependymoma	Likely pathogenic (Dec 29, 2017)	no assertion criteria provided
Select item 48779519.	NM_014851.4(KLHL21):c.501G>C (p.Glu167Asp) GRCh37: Chr1:6662377 GRCh38: Chr1:6602317	KLHL21	E167D	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48779420.	NM_001136157.2(OTUD5):c.1687C>A (p.Pro563Thr) GRCh37: ChrX:48780465 GRCh38: ChrX:48923188	OTUD5	P346T, P563T, P568T	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48779321.	NM_001378024.1(ARHGAP32):c.4745C>G (p.Thr1582Ser) GRCh37: Chr11:128840363 GRCh38: Chr11:128970468	ARHGAP32	T1219S, T1568S, T1528S, T1582S	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48779222.	NM_003372.7(VBP1):c.331C>A (p.Leu111Met) GRCh37: ChrX:154456711 GRCh38: ChrX:155228429	VBP1	L111M, L106M, L147M, L74M	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48779123.	NM_001304990.2(SPRY3):c.55C>T (p.Arg19Cys) GRCh37: ChrX:155003588 ChrY:59106594 GRCh38: ChrX:155773926 ChrY:56960446	SPRY3	R19C	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48779024.	NM_001047160.3(NET1):c.498G>T (p.Glu166Asp) GRCh37: Chr10:5494455 GRCh38: Chr10:5452492	NET1	E166D, E112D	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48778925.	NM_001242896.3(DEPDC5):c.2939G>A (p.Trp980Ter) GRCh37: Chr22:32241141 GRCh38: Chr22:31845155	DEPDC5	W902, W971, W952, W980	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48778826.	NM_172229.3(KREMEN2):c.494G>T (p.Gly165Val) GRCh37: Chr16:3016650 GRCh38: Chr16:2966649	KREMEN2	G165V	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48778727.	NM_012330.4(KAT6B):c.3827C>T (p.Pro1276Leu) GRCh37: Chr10:76788409 GRCh38: Chr10:75028651	KAT6B	P1276L, P495L, P984L, P1093L, P581L, P930L, P921L, P713L	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48778628.	NM_014323.3(PATZ1):c.562G>T (p.Asp188Tyr) GRCh37: Chr22:31741027 GRCh38: Chr22:31345041	PATZ1	D188Y	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48778529.	NM_000307.5(POU3F4):c.1013C>T (p.Pro338Leu) GRCh37: ChrX:82764345 GRCh38: ChrX:83509337	POU3F4	P338L	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48778430.	NM_001365635.2(TASOR):c.97G>A (p.Glu33Lys) GRCh37: Chr3:56716938 GRCh38: Chr3:56682910	TASOR	E33K	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48778331.	NM_003173.4(SUV39H1):c.415C>T (p.Arg139Cys) GRCh37: ChrX:48558731 GRCh38: ChrX:48700340	SUV39H1	R139C, R150C	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48778232.	NM_001386991.1(BANP):c.692A>G (p.Asn231Ser) GRCh37: Chr16:88052070 GRCh38: Chr16:88018464	BANP	N192S, N223S, N231S, N198S, N128S, N237S, N89S	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48778133.	NM_153706.4(SETD9):c.788_796del (p.Ile263_Tyr265del) GRCh37: Chr5:56210766-56210774 GRCh38: Chr5:56914939-56914947	SETD9		Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48778034.	NM_003883.4(HDAC3):c.50_55+5del GRCh37: Chr5:141016298-141016308 GRCh38: Chr5:141636731-141636741	HDAC3, LOC129994870		Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48777935.	NM_001282860.2(GON4L):c.2455A>G (p.Asn819Asp) GRCh37: Chr1:155742897 GRCh38: Chr1:155773106	GON4L	N819D	Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 48777836.	NM_001370259.2(MEN1):c.696dup (p.Lys233fs) GRCh37: Chr11:64575111 GRCh38: Chr11:64807638-64807639	MEN1	K238fs, K233fs, K198fs	Ependymoma	Pathogenic (Dec 29, 2017)	no assertion criteria provided

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Items: 36