5813[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 2861228	NC_000005.10:g.140113537_140114444delinsGAGGTGGG	LOC129994825, PURA	Indel	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 3149818	NM_005859.5(PURA):c.-20_142del (p.Met1_Gly48del)	PURA	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GPathogenic
Select item 974857	NM_005859.5(PURA):c.-12_25del (p.Met1fs)	PURA (M1fs)	Deletion (frameshift variant +1 more)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 489294	NM_005859.5(PURA):c.1A>G (p.Met1Val)	PURA (M1V)	Single nucleotide variant (missense variant +1 more)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 192337	NM_005859.5(PURA):c.1A>T (p.Met1Leu)	PURA (M1L)	Single nucleotide variant (missense variant +1 more)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
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 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 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 192344	NM_005859.5(PURA):c.4_8del (p.Ala2fs)	PURA (A2fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 520857	NM_005859.5(PURA):c.7_11del (p.Asp3fs)	PURA (D3fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1994694	NM_005859.5(PURA):c.6G>C (p.Ala2=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 871839	NM_005859.5(PURA):c.9_12dup (p.Asp5fs)	PURA (D5fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 571407	NM_005859.5(PURA):c.10C>T (p.Arg4Ter)	PURA (R4*)	Single nucleotide variant (nonsense)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 1696911	NM_005859.5(PURA):c.15_16del (p.Asp5fs)	PURA (D5fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 452213	NM_005859.5(PURA):c.14_25delinsC (p.Asp5fs)	PURA (D5fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1184501	NM_005859.5(PURA):c.15del (p.Asp5fs)	PURA (D5fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
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 2630910	NM_005859.5(PURA):c.26_35del (p.Glu9fs)	PURA (E9fs)	Deletion (frameshift variant)	PURA-related disorder	GPathogenic
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 1258872	NM_005859.5(PURA):c.27G>A (p.Glu9=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GBenign/Likely benign
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 1315424	NM_005859.5(PURA):c.34G>T (p.Gly12Cys)	PURA (G12C)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GUncertain significance
Select item 280744	NM_005859.5(PURA):c.42_57del (p.Leu15fs)	PURA (L15fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 817671	NM_005859.5(PURA):c.38del (p.Ala13fs)	PURA (A13fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 570676	NM_005859.5(PURA):c.40G>C (p.Ala14Pro)	PURA (A14P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1723468	NM_005859.5(PURA):c.41C>T (p.Ala14Val)	PURA (A14V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 542080	NM_005859.5(PURA):c.42G>A (p.Ala14=)	PURA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1719921	NM_005859.5(PURA):c.43C>G (p.Leu15Val)	PURA (L15V)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 565516	NM_005859.5(PURA):c.43C>A (p.Leu15Met)	PURA (L15M)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1695141	NM_005859.5(PURA):c.44T>C (p.Leu15Pro)	PURA (L15P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817057	NM_005859.5(PURA):c.45_60dup (p.Leu21fs)	PURA (L21fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1526088	NM_005859.5(PURA):c.50C>A (p.Ser17Ter)	PURA (S17*)	Single nucleotide variant (nonsense)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 817051	NM_005859.5(PURA):c.53dup (p.Gly19fs)	PURA (G19fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 559907	NM_005859.5(PURA):c.50del (p.Ser17fs)	PURA (S17fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GLikely pathogenic
Select item 1615672	NM_005859.5(PURA):c.51G>A (p.Ser17=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 1159937	NM_005859.5(PURA):c.51G>C (p.Ser17=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 1090196	NM_005859.5(PURA):c.51G>T (p.Ser17=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
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 1389240	NM_005859.5(PURA):c.55G>A (p.Gly19Ser)	PURA (G19S)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 942515	NM_005859.5(PURA):c.58T>C (p.Ser20Pro)	PURA (S20P)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1986879	NM_005859.5(PURA):c.61C>T (p.Leu21=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 1805833	NM_005859.5(PURA):c.62del (p.Leu21fs)	PURA (L21fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	GPathogenic
Select item 817752	NM_005859.5(PURA):c.66dup (p.His23fs)	PURA (H23fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1299239	NM_005859.5(PURA):c.66del (p.His23fs)	PURA (H23fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 1129698	NM_005859.5(PURA):c.63G>T (p.Leu21=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 1406237	NM_005859.5(PURA):c.65G>A (p.Gly22Glu)	PURA (G22E)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
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 1644729	NM_005859.5(PURA):c.68A>G (p.His23Arg)	PURA (H23R)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 838531	NM_005859.5(PURA):c.70C>T (p.Pro24Ser)	PURA (P24S)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 421476	NM_005859.5(PURA):c.70C>G (p.Pro24Ala)	PURA (P24A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 574765	NM_005859.5(PURA):c.78_83dup (p.26_27SG[4])	PURA	Duplication (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 1699218	NM_005859.5(PURA):c.74del (p.Gly25fs)	PURA (G25fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 588498	NM_005859.5(PURA):c.73G>A (p.Gly25Ser)	PURA (G25S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1406995	NM_005859.5(PURA):c.77C>T (p.Ser26Leu)	PURA (S26L)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 951036	NM_005859.5(PURA):c.77C>A (p.Ser26Ter)	PURA (S26*)	Single nucleotide variant (nonsense)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
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 1369046	NM_005859.5(PURA):c.79G>C (p.Gly27Arg)	PURA (G27R)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 520817	NM_005859.5(PURA):c.82T>C (p.Ser28Pro)	PURA (S28P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2577938	NM_005859.5(PURA):c.83C>G (p.Ser28Ter)	PURA (S28*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1009748	NM_005859.5(PURA):c.88_93del (p.26SG[2])	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 845085	NM_005859.5(PURA):c.102_119dup (p.Gly37_Gly42dup)	PURA	Duplication (inframe_insertion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 943420	NM_005859.5(PURA):c.102_119del (p.Gly37_Gly42del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +2 more	GUncertain significance
Select item 1715577	NM_005859.5(PURA):c.91G>A (p.Gly31Ser)	PURA (G31S)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 1706638	NM_005859.5(PURA):c.98dup (p.Gly34fs)	PURA (G34fs)	Duplication (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 812766	NM_005859.5(PURA):c.98del (p.Gly33fs)	PURA (G33fs)	Deletion (frameshift variant)	not provided	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 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 1040000	NM_005859.5(PURA):c.102_113del (p.Gly39_Gly42del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1958195	NM_005859.5(PURA):c.102TGG[3] (p.Gly42_Ser43insGly)	PURA	Microsatellite (inframe_insertion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1645072	NM_005859.5(PURA):c.99C>T (p.Gly33=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 1015201	NM_005859.5(PURA):c.100G>A (p.Gly34Ser)	PURA (G34S)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 985209	NM_005859.5(PURA):c.101del (p.Gly34fs)	PURA (G34fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 582106	NM_005859.5(PURA):c.105_131del (p.Gly41_Gly49del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
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 2655735	NM_005859.5(PURA):c.102T>G (p.Gly34=)	PURA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1670499	NM_005859.5(PURA):c.102T>C (p.Gly34=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 1644318	NM_005859.5(PURA):c.114_137del (p.Gly42_Gly49del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	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 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 1879633	NM_005859.5(PURA):c.105T>G (p.Gly35=)	PURA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1401532	NM_005859.5(PURA):c.112_126dup (p.Gly38_Gly42dup)	PURA	Duplication (inframe_insertion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 950447	NM_005859.5(PURA):c.114_122dup (p.Gly40_Gly42dup)	PURA	Duplication (inframe_insertion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 589317	NM_005859.5(PURA):c.105T>C (p.Gly35=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	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 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 931313	NM_005859.5(PURA):c.116_148del (p.Gly39_Gly49del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 861157	NM_005859.5(PURA):c.114_140del (p.Gly41_Gly49del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 577175	NM_005859.5(PURA):c.114_122del (p.Gly40_Gly42del)	PURA	Deletion (inframe_deletion)	Inborn genetic diseases +2 more	GLikely benign
Select item 1588055	NM_005859.5(PURA):c.108C>G (p.Gly36=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
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

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