ClinVar for MedGen (Select 41825) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 634998	dup(11)(q13.1q13.1)	ARL2, ATG2A +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 620604	NM_020975.6(RET):c.1202G>A (p.Ser401Asn)	RET (S401N +6 more)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 565544	NM_000251.3(MSH2):c.482T>C (p.Val161Ala)	MSH2 (V161A +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 487810	NM_001252024.2(TRPM1):c.283A>C (p.Ile95Leu)	TRPM1 (I73L +2 more)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487809	NM_139177.4(SLC39A11):c.595G>T (p.Val199Phe)	SLC39A11 (V199F +1 more)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487808	NM_024577.4(SH3TC2):c.3016del (p.Ser1006fs)	SH3TC2 (S1006fs)	Deletion (frameshift variant)	Ependymoma	GUncertain significance
Select item 487807	NM_006078.5(CACNG2):c.541T>C (p.Tyr181His)	CACNG2 (Y181H +1 more)	Single nucleotide variant (missense variant +1 more)	Ependymoma	GUncertain significance
Select item 487806	NM_032777.10(ADGRA2):c.1316_1334del (p.Asn439fs)	ADGRA2 (N439fs)	Deletion (frameshift variant)	Ependymoma	GUncertain significance
Select item 487805	NM_182961.4(SYNE1):c.11097C>G (p.Phe3699Leu)	SYNE1 (F3684L +1 more)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487804	NC_012920.1:m.11032delA	MT-ND4	Deletion	Ependymoma	GUncertain significance
Select item 487803	NM_000404.4(GLB1):c.1903G>C (p.Ala635Pro)	GLB1 (A635P +3 more)	Single nucleotide variant (missense variant +1 more)	Ependymoma	GUncertain significance
Select item 487802	NM_000198.4(HSD3B2):c.1004G>A (p.Arg335Gln)	HSD3B2 (R335Q)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487801	NM_006440.5(TXNRD2):c.1432G>C (p.Ala478Pro)	TXNRD2 (A478P +3 more)	Single nucleotide variant (missense variant +1 more)	Ependymoma	GUncertain significance
Select item 487800	NM_012318.3(LETM1):c.286G>A (p.Val96Met)	LETM1 (V96M)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487799	NM_145725.3(TRAF3):c.53C>G (p.Pro18Arg)	TRAF3 (P18R)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487798	NM_003618.4(MAP4K3):c.899T>C (p.Phe300Ser)	MAP4K3 (F300S)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487797	NM_004690.4(LATS1):c.2365G>C (p.Asp789His)	LATS1 (D509H +2 more)	Single nucleotide variant (missense variant +1 more)	Ependymoma	GUncertain significance
Select item 487796	NM_000268.4(NF2):c.551G>A (p.Trp184Ter)	NF2 (W184* +3 more)	Single nucleotide variant (nonsense +2 more)	Ependymoma	GLikely pathogenic
Select item 487795	NM_014851.4(KLHL21):c.501G>C (p.Glu167Asp)	KLHL21 (E167D)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487794	NM_001136157.2(OTUD5):c.1687C>A (p.Pro563Thr)	OTUD5 (P346T +2 more)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487793	NM_001378024.1(ARHGAP32):c.4745C>G (p.Thr1582Ser)	ARHGAP32 (T1219S +3 more)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487792	NM_003372.7(VBP1):c.331C>A (p.Leu111Met)	VBP1 (L111M +3 more)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487791	NM_001304990.2(SPRY3):c.55C>T (p.Arg19Cys)	SPRY3 (R19C)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487790	NM_001047160.3(NET1):c.498G>T (p.Glu166Asp)	NET1 (E166D +1 more)	Single nucleotide variant (missense variant +1 more)	Ependymoma	GUncertain significance
Select item 487789	NM_001242896.3(DEPDC5):c.2939G>A (p.Trp980Ter)	DEPDC5 (W902* +3 more)	Single nucleotide variant (nonsense +1 more)	Ependymoma	GUncertain significance
Select item 487788	NM_172229.3(KREMEN2):c.494G>T (p.Gly165Val)	KREMEN2 (G165V)	Single nucleotide variant (missense variant +1 more)	Ependymoma	GUncertain significance
Select item 487787	NM_012330.4(KAT6B):c.3827C>T (p.Pro1276Leu)	KAT6B (P1276L +7 more)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487786	NM_014323.3(PATZ1):c.562G>T (p.Asp188Tyr)	PATZ1 (D188Y)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487785	NM_000307.5(POU3F4):c.1013C>T (p.Pro338Leu)	POU3F4 (P338L)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487784	NM_001365635.2(TASOR):c.97G>A (p.Glu33Lys)	TASOR (E33K)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487783	NM_003173.4(SUV39H1):c.415C>T (p.Arg139Cys)	SUV39H1 (R139C +1 more)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487782	NM_001386991.1(BANP):c.692A>G (p.Asn231Ser)	BANP (N192S +6 more)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487781	NM_153706.4(SETD9):c.788_796del (p.Ile263_Tyr265del)	SETD9	Deletion (inframe_deletion +1 more)	Ependymoma	GUncertain significance
Select item 487780	NM_003883.4(HDAC3):c.50_55+5del	HDAC3, LOC129994870	Deletion (splice donor variant)	Ependymoma	GUncertain significance
Select item 487779	NM_001282860.2(GON4L):c.2455A>G (p.Asn819Asp)	GON4L (N819D)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 487778	NM_001370259.2(MEN1):c.696dup (p.Lys233fs)	MEN1 (K238fs +2 more)	Duplication (frameshift variant)	Ependymoma	GPathogenic

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Items: 36