ClinVar for MedGen (Select 863794) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 385

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233315	NM_005859.5(PURA):c.452_473del (p.Glu151fs)	PURA (E151fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 3069193	NM_005859.5(PURA):c.211A>C (p.Lys71Gln)	PURA (K71Q)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 3065244	NM_005859.5(PURA):c.309_314del (p.Met104_Ser105del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 3024540	NM_005859.5(PURA):c.116del (p.Gly39fs)	PURA (G39fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 3024361	NM_005859.5(PURA):c.586_588del (p.Ile196del)	PURA (I196del)	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 3024278	NM_005859.5(PURA):c.331del (p.Arg111fs)	PURA (R111fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 3020096	NM_005859.5(PURA):c.132CGG[8] (p.Gly49_Ala50insGlyGlyGly)	PURA	Microsatellite (inframe_insertion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 3014207	NM_005859.5(PURA):c.851A>C (p.Lys284Thr)	PURA (K284T)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 3007056	NM_005859.5(PURA):c.201C>T (p.Asp67=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2992777	NM_005859.5(PURA):c.516G>A (p.Gln172=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2984925	NM_005859.5(PURA):c.160C>T (p.Leu54=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2983613	NM_005859.5(PURA):c.114_140dup (p.Gly49_Ala50insGlyGlySerGlyGlyGlyGlyGlyGly)	PURA	Duplication (inframe_insertion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2972926	NM_005859.5(PURA):c.351C>T (p.Phe117=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2971465	NM_005859.5(PURA):c.478A>T (p.Lys160Ter)	PURA (K160*)	Single nucleotide variant (nonsense)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2968185	NM_005859.5(PURA):c.50C>T (p.Ser17Leu)	PURA (S17L)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2960505	NM_005859.5(PURA):c.109_126dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGly)	PURA	Duplication (inframe_insertion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2955093	NM_005859.5(PURA):c.39G>A (p.Ala13=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2920604	NM_005859.5(PURA):c.354C>A (p.Ile118=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2919414	NM_005859.5(PURA):c.108_113del (p.Gly41_Gly42del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2909010	NM_005859.5(PURA):c.654G>T (p.Leu218=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2902591	NM_005859.5(PURA):c.807C>T (p.His269=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2900554	NM_005859.5(PURA):c.39G>C (p.Ala13=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2888707	NM_005859.5(PURA):c.297C>T (p.Arg99=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2879121	NM_005859.5(PURA):c.114_125del (p.Gly39_Gly42del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2861228	NC_000005.10:g.140113537_140114444delinsGAGGTGGG	LOC129994825, PURA	Indel	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2858636	NM_005859.5(PURA):c.236A>C (p.Gln79Pro)	PURA (Q79P)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2854299	NM_005859.5(PURA):c.192G>A (p.Lys64=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GBenign
Select item 2852849	NM_005859.5(PURA):c.666C>T (p.Thr222=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2847598	NM_005859.5(PURA):c.524A>G (p.Asn175Ser)	PURA (N175S)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2844991	NM_005859.5(PURA):c.29A>T (p.Gln10Leu)	PURA (Q10L)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2840996	NM_005859.5(PURA):c.433dup (p.Ser145fs)	LOC129994826, PURA (S145fs)	Duplication (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2833057	NM_005859.5(PURA):c.129T>C (p.Ser43=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2831323	NM_005859.5(PURA):c.957G>A (p.Gly319=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2818640	NM_005859.5(PURA):c.420C>G (p.Arg140=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GBenign
Select item 2817965	NM_005859.5(PURA):c.547A>G (p.Thr183Ala)	PURA (T183A)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2815215	NM_005859.5(PURA):c.671del (p.Ser223_Leu224insTer)	PURA	Deletion (nonsense)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2809291	NM_005859.5(PURA):c.102_137dup (p.Gly49_Ala50insGlyGlyGlyGlyGlySerGlyGlyGlyGlyGlyGly)	PURA	Duplication (inframe_insertion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2809254	NM_005859.5(PURA):c.112G>A (p.Gly38Arg)	PURA (G38R)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2809021	NM_005859.5(PURA):c.762C>A (p.Arg254=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2808241	NM_005859.5(PURA):c.441C>T (p.Phe147=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2808075	NM_005859.5(PURA):c.585C>T (p.Leu195=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2807849	NM_005859.5(PURA):c.2T>C (p.Met1Thr)	PURA (M1T)	Single nucleotide variant (missense variant +1 more)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2807067	NM_005859.5(PURA):c.20del (p.Gly7fs)	PURA (G7fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2803273	NM_005859.5(PURA):c.66G>C (p.Gly22=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2797171	NM_005859.5(PURA):c.78G>A (p.Ser26=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2794393	NM_005859.5(PURA):c.114_134del (p.Ser43_Gly49del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2788778	NM_005859.5(PURA):c.456C>T (p.Asn152=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2784551	NM_005859.5(PURA):c.348C>T (p.Asp116=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2782705	NM_005859.5(PURA):c.102_125del (p.Gly35_Gly42del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2760897	NM_005859.5(PURA):c.72C>T (p.Pro24=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2749031	NM_005859.5(PURA):c.849G>C (p.Glu283Asp)	PURA (E283D)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2742742	NM_005859.5(PURA):c.105_122dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGly)	PURA	Duplication (inframe_insertion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2730885	NM_005859.5(PURA):c.875G>C (p.Cys292Ser)	PURA (C292S)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2701751	NM_005859.5(PURA):c.425C>A (p.Ala142Glu)	LOC129994826, PURA (A142E)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2700664	NM_005859.5(PURA):c.757T>G (p.Tyr253Asp)	PURA (Y253D)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2693957	NM_005859.5(PURA):c.194G>T (p.Arg65Leu)	PURA (R65L)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2664981	NM_005859.5(PURA):c.540_544dup (p.Ser182fs)	PURA (S182fs)	Duplication (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 2664962	NM_005859.5(PURA):c.159del (p.Leu54fs)	PURA (L54fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2572627	NM_005859.5(PURA):c.227A>C (p.Asp76Ala)	PURA (D76A)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 2500765	NM_005859.5(PURA):c.228del (p.Asp76fs)	PURA (D76fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2444854	NM_005859.5(PURA):c.493G>T (p.Gly165Cys)	PURA (G165C)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2441816	NM_005859.5(PURA):c.4_7dup (p.Asp3fs)	PURA (D3fs)	Duplication (frameshift variant +1 more)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 2432894	NM_005859.5(PURA):c.657del (p.Glu220fs)	PURA (E220fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 2432890	NM_005859.5(PURA):c.190A>T (p.Lys64Ter)	PURA (K64*)	Single nucleotide variant (nonsense)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2418936	NM_005859.5(PURA):c.25G>T (p.Glu9Ter)	PURA (E9*)	Single nucleotide variant (nonsense)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2415099	NM_005859.5(PURA):c.910GAG[1] (p.Glu305del)	PURA (E305del)	Microsatellite (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2201799	NM_005859.5(PURA):c.588C>T (p.Ile196=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2169703	NM_005859.5(PURA):c.888C>T (p.His296=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2164659	NM_005859.5(PURA):c.115GGC[5] (p.Gly42_Ser43insGly)	PURA	Microsatellite (inframe_insertion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2156510	NM_005859.5(PURA):c.513C>T (p.Arg171=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2147644	NM_005859.5(PURA):c.282C>G (p.Gly94=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2137309	NM_005859.5(PURA):c.207G>A (p.Gln69=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2135602	NM_005859.5(PURA):c.197T>A (p.Val66Glu)	PURA (V66E)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2133222	NM_005859.5(PURA):c.363C>T (p.Tyr121=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2132709	NM_005859.5(PURA):c.54C>T (p.Gly18=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2128460	NM_005859.5(PURA):c.435C>T (p.Ser145=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GBenign
Select item 2123004	NM_005859.5(PURA):c.872C>T (p.Ala291Val)	PURA (A291V)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2117953	NM_005859.5(PURA):c.38C>T (p.Ala13Val)	PURA (A13V)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2114353	NM_005859.5(PURA):c.763A>G (p.Asn255Asp)	PURA (N255D)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2098281	NM_005859.5(PURA):c.3G>A (p.Met1Ile)	PURA (M1I)	Single nucleotide variant (missense variant +1 more)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2097614	NM_005859.5(PURA):c.234G>A (p.Lys78=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2091877	NM_005859.5(PURA):c.789G>A (p.Val263=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2077869	NM_005859.5(PURA):c.928dup (p.Thr310fs)	PURA (T310fs)	Duplication (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2072497	NM_005859.5(PURA):c.923C>T (p.Ala308Val)	PURA (A308V)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2070656	NM_005859.5(PURA):c.461A>G (p.Lys154Arg)	PURA (K154R)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2062837	NM_005859.5(PURA):c.147G>C (p.Gly49=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2060973	NM_005859.5(PURA):c.626A>T (p.Tyr209Phe)	PURA (Y209F)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2059015	NM_005859.5(PURA):c.819G>A (p.Lys273=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2053157	NM_005859.5(PURA):c.117C>T (p.Gly39=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related disorder +1 more	GLikely benign
Select item 2040206	NM_005859.5(PURA):c.921C>T (p.Ala307=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2038657	NM_005859.5(PURA):c.774C>A (p.Thr258=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2034267	NM_005859.5(PURA):c.203_211del (p.Ile68_Asn70del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2032601	NM_005859.5(PURA):c.426G>C (p.Ala142=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2028420	NM_005859.5(PURA):c.115GGC[1] (p.Gly40_Gly42del)	PURA	Microsatellite (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 2027940	NM_005859.5(PURA):c.900G>A (p.Gln300=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2022803	NM_005859.5(PURA):c.380dup (p.Ser127fs)	LOC129994826, PURA (S127fs)	Duplication (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2008460	NM_005859.5(PURA):c.399C>T (p.Ala133=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GBenign
Select item 1996636	NM_005859.5(PURA):c.180G>A (p.Glu60=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1995788	NM_005859.5(PURA):c.508A>T (p.Ile170Phe)	PURA (I170F)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance

<< First< Prev

Page of 4