AVEN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	SNORD115-20, SNORD115-21 +314 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57451	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3	ACTC1, AQR +93 more	Copy number gain	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	LOC130056751, LOC130056752 +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 461823	NC_000015.10:g.(?_33742346)_(33866065_?)del	AVEN, LOC126862094 +3 more	Deletion	Epileptic encephalopathy	GUncertain significance
Select item 152610	GRCh38/hg38 15q14(chr15:33813732-34135651)x3	AVEN, CHRM5 +15 more	Copy number gain	See cases	GUncertain significance
Select item 549639	NC_000015.9:g.34125784_34151995del26212	AVEN, LOC126862094 +2 more	Deletion	Primary amenorrhea	GUncertain significance
Select item 1063013	NM_001036.6(RYR3):c.13629A>G (p.Pro4543=)	AVEN, LOC126862094 +1 more	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GUncertain significance
Select item 531120	NM_001036.6(RYR3):c.13635T>C (p.Phe4545=)	AVEN, LOC126862094 +1 more	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 658572	NM_001036.6(RYR3):c.13653C>A (p.Asp4551Glu)	AVEN, LOC126862094 +1 more (D4546E +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 531036	NM_001036.6(RYR3):c.13670_13671+3dup	AVEN, LOC126862094 +1 more	Duplication (splice donor variant)	Epileptic encephalopathy	GUncertain significance
Select item 1058393	NM_001036.6(RYR3):c.13671+4T>C	AVEN, LOC126862094 +1 more	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 1148511	NM_001036.6(RYR3):c.13671+9T>C	AVEN, LOC126862094 +1 more	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 793897	NM_001036.6(RYR3):c.13672-8del	AVEN, LOC126862094 +1 more	Deletion (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1140276	NM_001036.6(RYR3):c.13686T>C (p.Tyr4562=)	AVEN, LOC126862094 +1 more	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 711238	NM_001036.6(RYR3):c.13698C>T (p.Tyr4566=)	AVEN, LOC126862094 +1 more	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 655305	NM_001036.6(RYR3):c.13702G>C (p.Ala4568Pro)	AVEN, LOC126862094 +1 more (A4568P +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2266473	NM_001036.6(RYR3):c.13703C>G (p.Ala4568Gly)	AVEN, LOC126862094 +1 more (A4563G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738582	NM_001036.6(RYR3):c.13716T>A (p.Ala4572=)	AVEN, LOC126862094 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1342625	NM_001036.6(RYR3):c.13717G>C (p.Glu4573Gln)	AVEN, LOC126862094 +1 more (E4568Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1051832	NM_001036.6(RYR3):c.13732G>A (p.Asp4578Asn)	AVEN, LOC126862094 +1 more (D4573N +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1142022	NM_001036.6(RYR3):c.13734C>T (p.Asp4578=)	AVEN, LOC126862094 +1 more	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 970288	NM_001036.6(RYR3):c.13736A>G (p.Lys4579Arg)	AVEN, LOC126862094 +1 more (K4579R +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 1445869	NM_001036.6(RYR3):c.13744C>G (p.Leu4582Val)	AVEN, LOC126862094 +1 more (L4577V +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1671664	NM_001036.6(RYR3):c.13749C>T (p.Asp4583=)	RYR3, AVEN +1 more	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1054736	NM_001036.6(RYR3):c.13760T>C (p.Val4587Ala)	AVEN, LOC126862094 +1 more (V4582A +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 574547	NM_001036.6(RYR3):c.13769C>G (p.Thr4590Ser)	AVEN, LOC126862094 +1 more (T4590S +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 531053	NM_001036.6(RYR3):c.13769C>T (p.Thr4590Ile)	AVEN, LOC126862094 +1 more (T4590I +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely benign
Select item 1043493	NM_001036.6(RYR3):c.13780G>A (p.Ala4594Thr)	AVEN, LOC126862094 +1 more (A4594T +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 461868	NM_001036.6(RYR3):c.13781C>T (p.Ala4594Val)	AVEN, LOC126862094 +1 more (A4594V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1087624	NM_001036.6(RYR3):c.13782G>A (p.Ala4594=)	AVEN, LOC126862094 +1 more	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 530967	NM_001036.6(RYR3):c.13784C>G (p.Ala4595Gly)	AVEN, LOC126862094 +1 more (A4595G +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 559569	NM_001036.6(RYR3):c.13787C>T (p.Ser4596Phe)	AVEN, LOC126862094 +1 more (S4596F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 761600	NM_001036.6(RYR3):c.13801C>T (p.Leu4601=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 846636	NM_001036.6(RYR3):c.13802T>C (p.Leu4601Pro)	AVEN, RYR3 (L4596P +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 577679	NM_001036.6(RYR3):c.13811T>C (p.Ile4604Thr)	AVEN, RYR3 (I4604T +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 692311	NM_001036.6(RYR3):c.13814A>G (p.Asp4605Gly)	AVEN, RYR3 (D4600G +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 461869	NM_001036.6(RYR3):c.13816A>G (p.Met4606Val)	AVEN, RYR3 (M4606V +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 861863	NM_001036.6(RYR3):c.13820A>T (p.Lys4607Met)	AVEN, RYR3 (K4602M +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 531060	NM_001036.6(RYR3):c.13826A>G (p.His4609Arg)	AVEN, RYR3 (H4609R +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1130128	NM_001036.6(RYR3):c.13842A>G (p.Gly4614=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 568327	NM_001036.6(RYR3):c.13860C>G (p.Asn4620Lys)	AVEN, RYR3 (N4620K +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 952745	NM_001036.6(RYR3):c.13860+1G>A	AVEN, RYR3	Single nucleotide variant (splice donor variant)	Epileptic encephalopathy	GUncertain significance
Select item 461870	NM_001036.6(RYR3):c.13861-4C>G	AVEN, RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 854755	NM_001036.6(RYR3):c.13877C>T (p.Ala4626Val)	AVEN, RYR3 (A4621V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1078279	NM_001036.6(RYR3):c.13878C>T (p.Ala4626=)	RYR3, AVEN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 761478	NM_001036.6(RYR3):c.13884T>C (p.Tyr4628=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 949961	NM_001036.6(RYR3):c.13889C>G (p.Thr4630Ser)	AVEN, RYR3 (T4630S +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1083967	NM_001036.6(RYR3):c.13899C>T (p.Val4633=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 530978	NM_001036.6(RYR3):c.13910A>G (p.Tyr4637Cys)	AVEN, RYR3 (Y4637C +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 845947	NM_001036.6(RYR3):c.13913A>G (p.Asn4638Ser)	AVEN, RYR3 (N4638S +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 531104	NM_001036.6(RYR3):c.13938A>G (p.Leu4646=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	RYR3-related condition +1 more	GBenign/Likely benign
Select item 1553669	NM_001036.6(RYR3):c.13939T>C (p.Leu4647=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 569729	NM_001036.6(RYR3):c.13948G>A (p.Ala4650Thr)	AVEN, RYR3 +1 more (A4650T +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 2645146	NM_001036.6(RYR3):c.13989A>T (p.Val4663=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1112618	NM_001036.6(RYR3):c.13998T>C (p.Asn4666=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1081936	NM_001036.6(RYR3):c.14004A>G (p.Lys4668=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 959740	NM_001036.6(RYR3):c.14007+4T>C	AVEN, RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 1080424	NM_001036.6(RYR3):c.14008-9C>T	AVEN, RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 461871	NM_001036.6(RYR3):c.14028C>T (p.Leu4676=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 662347	NM_001036.6(RYR3):c.14031G>A (p.Leu4677=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GUncertain significance
Select item 749212	NM_001036.6(RYR3):c.14034C>T (p.Ala4678=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 728595	NM_001036.6(RYR3):c.14046T>C (p.Tyr4682=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1086732	NM_001036.6(RYR3):c.14058G>T (p.Val4686=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	RYR3-related condition +1 more	GLikely benign
Select item 947984	NM_001036.6(RYR3):c.14058G>A (p.Val4686=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GUncertain significance
Select item 1117838	NM_001036.6(RYR3):c.14070C>T (p.Asn4690=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 647526	NM_001036.6(RYR3):c.14091C>A (p.Asn4697Lys)	AVEN, RYR3 (N4692K +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 728355	NM_001036.6(RYR3):c.14097C>T (p.Ser4699=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 977351	NM_001036.6(RYR3):c.14098G>C (p.Glu4700Gln)	AVEN, RYR3 (E4695Q +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 579781	NM_001036.6(RYR3):c.14098G>A (p.Glu4700Lys)	AVEN, RYR3 (E4700K +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 749271	NM_001036.6(RYR3):c.14103C>T (p.Asp4701=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 531051	NM_001036.6(RYR3):c.14104G>A (p.Asp4702Asn)	AVEN, RYR3 (D4702N +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 461872	NM_001036.6(RYR3):c.14110G>A (p.Glu4704Lys)	AVEN, RYR3 (E4704K +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +2 more	GBenign/Likely benign
Select item 461873	NM_001036.6(RYR3):c.14118T>C (p.Asp4706=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GBenign
Select item 461874	NM_001036.6(RYR3):c.14124G>A (p.Lys4708=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 461875	NM_001036.6(RYR3):c.14127C>T (p.Cys4709=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	RYR3-related condition +1 more	GLikely benign
Select item 96984	NM_001036.6(RYR3):c.14128G>A (p.Asp4710Asn)	RYR3, AVEN (D4710N +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 461876	NM_001036.6(RYR3):c.14130C>T (p.Asp4710=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1055011	NM_001036.6(RYR3):c.14142+4A>G	AVEN, RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 1146467	NM_001036.6(RYR3):c.14142+6AGCCCACCCACTGCGGGGCC[3]	AVEN, RYR3	Microsatellite (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1166940	NM_001036.6(RYR3):c.14142+27_14142+46del	AVEN, RYR3	Microsatellite (intron variant)	Epileptic encephalopathy	GBenign
Select item 572764	NM_001036.6(RYR3):c.14149C>G (p.Leu4717Val)	AVEN, RYR3 (L4717V +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 784799	NM_001036.6(RYR3):c.14163C>T (p.Tyr4721=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	RYR3-related condition +1 more	GLikely benign
Select item 530990	NM_001036.6(RYR3):c.14177C>T (p.Ala4726Val)	AVEN, RYR3 (A4726V +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 530992	NM_001036.6(RYR3):c.14209C>G (p.Pro4737Ala)	AVEN, RYR3 (P4737A +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 732264	NM_001036.6(RYR3):c.14218G>C (p.Asp4740His)	AVEN, RYR3 (D4735H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1077932	NM_001036.6(RYR3):c.14244C>G (p.Val4748=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 858045	NM_001036.6(RYR3):c.14262C>G (p.Phe4754Leu)	AVEN, RYR3 (F4749L +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 461877	NM_001036.6(RYR3):c.14268C>T (p.Phe4756=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GBenign
Select item 461878	NM_001036.6(RYR3):c.14280C>T (p.Ile4760=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +2 more	GLikely benign
Select item 963106	NM_001036.6(RYR3):c.14291T>G (p.Ile4764Ser)	AVEN, RYR3 (I4759S +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 951176	NM_001036.6(RYR3):c.14299+4T>C	AVEN, RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 1257459	NM_001036.6(RYR3):c.14300-19T>A	AVEN, RYR3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 531166	NM_001036.6(RYR3):c.14319C>T (p.Phe4773=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2523087	NM_001036.6(RYR3):c.14351G>A (p.Arg4784Gln)	AVEN, RYR3 (R4779Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1013972	NM_001036.6(RYR3):c.14353G>C (p.Glu4785Gln)	AVEN, RYR3 (E4780Q +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 576666	NM_001036.6(RYR3):c.14356G>A (p.Asp4786Asn)	AVEN, RYR3 (D4786N +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance

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