"Ambry Genetics"[submitter] AND "AVEN"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 655305	NM_001036.6(RYR3):c.13702G>C (p.Ala4568Pro)	AVEN, LOC126862094 +1 more (A4568P +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	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)	not specified	GUncertain significance
Select item 1342625	NM_001036.6(RYR3):c.13717G>C (p.Glu4573Gln)	AVEN, LOC126862094 +1 more (E4568Q +1 more)	Single nucleotide variant (missense variant)	RYR3-related Epileptic encephalopathy +1 more	GUncertain significance
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 531053	NM_001036.6(RYR3):c.13769C>T (p.Thr4590Ile)	AVEN, LOC126862094 +1 more (T4590I +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 461868	NM_001036.6(RYR3):c.13781C>T (p.Ala4594Val)	LOC126862094, RYR3 +1 more (A4594V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 +1 more	GUncertain significance
Select item 854755	NM_001036.6(RYR3):c.13877C>T (p.Ala4626Val)	AVEN, RYR3 (A4621V +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 3315922	NM_001036.6(RYR3):c.13898T>C (p.Val4633Ala)	AVEN, RYR3 (V4628A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 579781	NM_001036.6(RYR3):c.14098G>A (p.Glu4700Lys)	AVEN, RYR3 (E4700K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3315920	NM_001036.6(RYR3):c.14116G>A (p.Asp4706Asn)	AVEN, RYR3 (D4706N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315927	NM_001036.6(RYR3):c.14308A>T (p.Ile4770Phe)	AVEN, RYR3 (I4765F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523087	NM_001036.6(RYR3):c.14351G>A (p.Arg4784Gln)	AVEN, RYR3 (R4779Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 840234	NM_001036.6(RYR3):c.14397C>G (p.Asp4799Glu)	AVEN, RYR3 (D4794E +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 2619376	NM_001036.6(RYR3):c.14410A>G (p.Thr4804Ala)	AVEN, RYR3 (T4799A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132375	NM_020371.3(AVEN):c.1072G>C (p.Asp358His)	AVEN (D358H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239508	NM_020371.3(AVEN):c.1058T>G (p.Leu353Arg)	AVEN (L353R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132373	NM_020371.3(AVEN):c.1007A>T (p.Asn336Ile)	AVEN (N336I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132382	NM_020371.3(AVEN):c.967G>A (p.Glu323Lys)	AVEN (E323K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561687	NM_020371.3(AVEN):c.954G>T (p.Glu318Asp)	AVEN (E318D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259711	NM_020371.3(AVEN):c.871A>C (p.Asn291His)	AVEN (N291H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333786	NM_020371.3(AVEN):c.833C>T (p.Ala278Val)	AVEN (A278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333775	NM_020371.3(AVEN):c.832G>A (p.Ala278Thr)	AVEN (A278T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243001	NM_020371.3(AVEN):c.662A>G (p.Asp221Gly)	AVEN (D221G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298770	NM_020371.3(AVEN):c.623C>T (p.Pro208Leu)	AVEN (P208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570014	NM_020371.3(AVEN):c.617C>A (p.Thr206Lys)	AVEN (T206K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132381	NM_020371.3(AVEN):c.616A>G (p.Thr206Ala)	AVEN (T206A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132380	NM_020371.3(AVEN):c.607G>C (p.Val203Leu)	AVEN (V203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372380	NM_020371.3(AVEN):c.589A>G (p.Asn197Asp)	AVEN (N197D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132379	NM_020371.3(AVEN):c.584G>A (p.Arg195Gln)	AVEN (R195Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132378	NM_020371.3(AVEN):c.559C>T (p.Leu187Phe)	AVEN (L187F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551375	NM_020371.3(AVEN):c.515A>C (p.Gln172Pro)	AVEN (Q172P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460354	NM_020371.3(AVEN):c.467G>A (p.Arg156Gln)	AVEN (R156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389768	NM_020371.3(AVEN):c.466C>T (p.Arg156Trp)	AVEN (R156W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251241	NM_020371.3(AVEN):c.361T>C (p.Tyr121His)	AVEN, CHRM5 (Y121H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360515	NM_020371.3(AVEN):c.354G>T (p.Trp118Cys)	AVEN, CHRM5 (W118C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324367	NM_020371.3(AVEN):c.347C>G (p.Ser116Cys)	AVEN, CHRM5 (S116C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614421	NM_020371.3(AVEN):c.220G>A (p.Gly74Ser)	AVEN, CHRM5 +1 more (G74S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495403	NM_020371.3(AVEN):c.196C>G (p.Arg66Gly)	AVEN, CHRM5 +1 more (R66G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538018	NM_020371.3(AVEN):c.191G>A (p.Gly64Glu)	AVEN, CHRM5 +1 more (G64E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233460	NM_020371.3(AVEN):c.166G>A (p.Gly56Ser)	AVEN, CHRM5 +1 more (G56S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132376	NM_020371.3(AVEN):c.163C>T (p.Arg55Cys)	AVEN, CHRM5 +1 more (R55C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539356	NM_020371.3(AVEN):c.143G>A (p.Gly48Asp)	AVEN, CHRM5 +1 more (G48D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592305	NM_020371.3(AVEN):c.140G>C (p.Gly47Ala)	AVEN, CHRM5 +1 more (G47A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272469	NM_020371.3(AVEN):c.136G>T (p.Asp46Tyr)	AVEN, CHRM5 +1 more (D46Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333808	NM_020371.3(AVEN):c.130G>C (p.Gly44Arg)	AVEN, CHRM5 +1 more (G44R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333828	NM_020371.3(AVEN):c.112G>A (p.Gly38Ser)	AVEN, CHRM5 +1 more (G38S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333818	NM_020371.3(AVEN):c.70C>T (p.Arg24Cys)	AVEN, CHRM5 (R24C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251618	NM_020371.3(AVEN):c.26G>A (p.Gly9Glu)	AVEN, CHRM5 (G9E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306476	NM_020371.3(AVEN):c.23G>C (p.Arg8Pro)	AVEN, CHRM5 (R8P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333797	NM_020371.3(AVEN):c.15A>C (p.Arg5=)	AVEN, CHRM5	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2390773	NM_020371.3(AVEN):c.14G>T (p.Arg5Leu)	AVEN, CHRM5 (R5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410889	NM_012125.4(CHRM5):c.26C>G (p.Ala9Gly)	AVEN, CHRM5 (A9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276716	NM_012125.4(CHRM5):c.28A>G (p.Thr10Ala)	AVEN, CHRM5 (T10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144596	NM_012125.4(CHRM5):c.70C>T (p.Arg24Cys)	AVEN, CHRM5 (R24C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267144	NM_012125.4(CHRM5):c.150G>C (p.Leu50Phe)	AVEN, CHRM5 (L50F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621560	NM_012125.4(CHRM5):c.277A>G (p.Met93Val)	AVEN, CHRM5 (M93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144594	NM_012125.4(CHRM5):c.424C>T (p.Arg142Cys)	AVEN, CHRM5 (R142C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598814	NM_012125.4(CHRM5):c.425G>A (p.Arg142His)	AVEN, CHRM5 (R142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312272	NM_012125.4(CHRM5):c.493G>A (p.Ala165Thr)	AVEN, CHRM5 (A165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227855	NM_012125.4(CHRM5):c.653G>A (p.Arg218Gln)	AVEN, CHRM5 (R218Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144595	NM_012125.4(CHRM5):c.688C>T (p.Leu230Phe)	AVEN, CHRM5 (L230F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267146	NM_012125.4(CHRM5):c.823C>T (p.Arg275Cys)	AVEN, CHRM5 (R275C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390446	NM_012125.4(CHRM5):c.874G>A (p.Ala292Thr)	AVEN, CHRM5 (A292T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353675	NM_012125.4(CHRM5):c.878A>G (p.Asn293Ser)	AVEN, CHRM5 (N293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267145	NM_012125.4(CHRM5):c.1010T>G (p.Phe337Cys)	AVEN, CHRM5 (F337C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267147	NM_012125.4(CHRM5):c.1016C>T (p.Ala339Val)	AVEN, CHRM5 (A339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408064	NM_012125.4(CHRM5):c.1028A>T (p.Glu343Val)	AVEN, CHRM5 (E343V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350453	NM_012125.4(CHRM5):c.1058A>G (p.Lys353Arg)	AVEN, CHRM5 (K353R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371981	NM_012125.4(CHRM5):c.1096G>A (p.Ala366Thr)	AVEN, CHRM5 (A366T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385284	NM_012125.4(CHRM5):c.1153G>A (p.Val385Ile)	AVEN, CHRM5 (V385I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295722	NM_012125.4(CHRM5):c.1370C>T (p.Pro457Leu)	AVEN, CHRM5 (P457L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144592	NM_012125.4(CHRM5):c.1407C>A (p.Asp469Glu)	AVEN, CHRM5 (D469E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351884	NM_012125.4(CHRM5):c.1528C>T (p.Leu510Phe)	AVEN, CHRM5 (L510F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144593	NM_012125.4(CHRM5):c.1538G>A (p.Arg513Gln)	AVEN, CHRM5 (R513Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313154	NM_012125.4(CHRM5):c.1565A>G (p.Lys522Arg)	AVEN, CHRM5 (K522R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 76