51741[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 146126	GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1	ADAMTS18, ADAT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 60025	GRCh38/hg38 16q23.1(chr16:77515483-78109855)x3	CLEC3A, LINC02131 +24 more	Copy number gain	See cases	GUncertain significance
Select item 146994	GRCh38/hg38 16q23.1(chr16:77613187-78311038)x3	CLEC3A, LOC112486208 +30 more	Copy number gain	See cases	GUncertain significance
Select item 148295	GRCh38/hg38 16q23.1(chr16:77624088-78386825)x3	CLEC3A, LOC112486208 +33 more	Copy number gain	See cases	GLikely benign
Select item 151489	GRCh38/hg38 16q23.1(chr16:77630519-78171567)x3	CLEC3A, LOC112486208 +26 more	Copy number gain	See cases	GUncertain significance
Select item 145661	GRCh38/hg38 16q23.1(chr16:77637681-78153207)x3	CLEC3A, LOC112486208 +25 more	Copy number gain	See cases	GLikely benign
Select item 1341791	NC_000016.10:g.77893032_78561479dup	CLEC3A, LOC110120570 +32 more	Duplication	Developmental and epileptic encephalopathy, 28	GUncertain significance
Select item 148498	GRCh38/hg38 16q23.1(chr16:77899896-78547533)x3	CLEC3A, LOC110120570 +32 more	Copy number gain	See cases	GUncertain significance
Select item 60026	GRCh38/hg38 16q23.1(chr16:77919420-78781576)x3	CLEC3A, LOC110120570 +35 more	Copy number gain	See cases	GUncertain significance
Select item 60027	GRCh38/hg38 16q23.1(chr16:77960806-78620032)x3	CLEC3A, LOC110120570 +31 more	Copy number gain	See cases	GUncertain significance
Select item 3062161	GRCh38/hg38 16q23.1(chr16:78064581-78164300)x1	LOC132090429, LOC132090427 +3 more	Copy number loss	West syndrome	GPathogenic
Select item 152655	GRCh38/hg38 16q23.1(chr16:78064581-78672125)x3	LOC110120570, LOC112486209 +14 more	Copy number gain	See cases	GLikely benign
Select item 60028	GRCh38/hg38 16q23.1(chr16:78064581-78624387)x3	LOC110120570, LOC112486209 +14 more	Copy number gain	See cases	GUncertain significance
Select item 1257010	NC_000016.10:g.78099226T>C	WWOX	Single nucleotide variant	not provided	GBenign
Select item 2579165	GRCh38/hg38 16q23.1(chr16:78099236-78100272)x0	WWOX	Copy number loss	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 2438616	NM_016373.4(WWOX):c.-460C>T	WWOX	Single nucleotide variant	not provided	GUncertain significance
Select item 1218171	NC_000016.10:g.78099348C>T	WWOX	Single nucleotide variant	not provided	GLikely benign
Select item 180246	NM_016373.3(WWOX):c.-366-?_516+?del	WWOX, LOC132090428 +1 more	Deletion	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 514318	NM_016373.4(WWOX):c.-39A>T	WWOX	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 388382	NM_016373.4(WWOX):c.-34G>A	WWOX	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 509506	NM_016373.4(WWOX):c.-27G>A	WWOX	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 387468	NM_016373.4(WWOX):c.-27G>C	WWOX	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 511560	NM_016373.4(WWOX):c.-25G>A	WWOX	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 506586	NM_016373.4(WWOX):c.-23_-22delinsT	WWOX	Indel (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3243519	NC_000016.9:g.(?_78133656)_(78198206_?)dup	LOC132090428, LOC132090429 +1 more	Duplication	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 661187	NC_000016.9:g.(?_78133656)_(78149071_?)dup	WWOX	Duplication	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 583748	NC_000016.9:g.(?_78133656)_(78658393_?)dup	LOC132090428, LOC110120570 +12 more	Duplication	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 583609	NC_000016.9:g.(?_78133656)_(78133806_?)dup	WWOX	Duplication	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 260735	NM_016373.4(WWOX):c.-5C>T	WWOX	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GBenign
Select item 3364036	NM_016373.4(WWOX):c.-3dup	WWOX	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1979930	NM_016373.4(WWOX):c.1A>C (p.Met1Leu)	WWOX (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 1898392	NM_016373.4(WWOX):c.2T>C (p.Met1Thr)	WWOX (M1T)	Single nucleotide variant (5 prime UTR variant +3 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 858524	NM_016373.4(WWOX):c.7G>T (p.Ala3Ser)	WWOX (A3S)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 473032	NM_016373.4(WWOX):c.7G>A (p.Ala3Thr)	WWOX (A3T)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 656357	NM_016373.4(WWOX):c.8C>T (p.Ala3Val)	WWOX (A3V)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2923854	NM_016373.4(WWOX):c.9G>A (p.Ala3=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 387576	NM_016373.4(WWOX):c.9G>C (p.Ala3=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 1442761	NM_016373.4(WWOX):c.10C>G (p.Leu4Val)	WWOX (L4V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1707344	NM_016373.4(WWOX):c.11T>G (p.Leu4Arg)	WWOX (L4R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1542290	NM_016373.4(WWOX):c.12G>A (p.Leu4=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 861287	NM_016373.4(WWOX):c.15C>G (p.Arg5=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 931445	NM_016373.4(WWOX):c.16T>C (p.Tyr6His)	WWOX (Y6H)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 28	GUncertain significance
Select item 1927191	NM_016373.4(WWOX):c.18C>T (p.Tyr6=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1424743	NM_016373.4(WWOX):c.19G>A (p.Ala7Thr)	WWOX (A7T)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 698553	NM_016373.4(WWOX):c.24G>A (p.Gly8=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1315658	NM_016373.4(WWOX):c.28G>T (p.Asp10Tyr)	WWOX (D10Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 968820	NM_016373.4(WWOX):c.28G>C (p.Asp10His)	WWOX (D10H)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 1544829	NM_016373.4(WWOX):c.30C>T (p.Asp10=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 650478	NM_016373.4(WWOX):c.32A>T (p.Asp11Val)	WWOX (D11V)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2429451	NM_016373.4(WWOX):c.33del (p.Asp11fs)	WWOX (D11fs)	Deletion (5 prime UTR variant +2 more)	Developmental delay	GLikely pathogenic
Select item 3336604	NM_016373.4(WWOX):c.35C>T (p.Thr12Met)	WWOX (T12M)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 28	GLikely pathogenic
Select item 569653	NM_016373.4(WWOX):c.35C>G (p.Thr12Arg)	WWOX (T12R)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GConflicting classifications of pathogenicity
Select item 1620157	NM_016373.4(WWOX):c.36G>A (p.Thr12=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1610528	NM_016373.4(WWOX):c.36G>T (p.Thr12=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 540242	NM_016373.4(WWOX):c.36G>C (p.Thr12=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 1615185	NM_016373.4(WWOX):c.45G>A (p.Glu15=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 863755	NM_016373.4(WWOX):c.45G>T (p.Glu15Asp)	WWOX (E15D)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 180250	NM_016373.4(WWOX):c.46_49del (p.Asp16fs)	WWOX (D16fs)	Deletion (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GPathogenic
Select item 1338792	NM_016373.4(WWOX):c.49G>A (p.Glu17Lys)	WWOX (E17K)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 28 +2 more	GConflicting classifications of pathogenicity
Select item 473026	NM_016373.4(WWOX):c.51G>T (p.Glu17Asp)	WWOX (E17D)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 1037991	NM_016373.4(WWOX):c.52C>G (p.Leu18Val)	WWOX (L18V)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 569654	NM_016373.4(WWOX):c.52C>A (p.Leu18Met)	WWOX (L18M)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2313577	NM_016373.4(WWOX):c.58C>T (p.Pro20Ser)	WWOX (P20S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1470501	NM_016373.4(WWOX):c.59C>G (p.Pro20Arg)	WWOX (P20R)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 849697	NM_016373.4(WWOX):c.59C>T (p.Pro20Leu)	WWOX (P20L)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +5 more	GUncertain significance
Select item 696684	NM_016373.4(WWOX):c.60G>C (p.Pro20=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +3 more	GLikely benign
Select item 2930148	NM_016373.4(WWOX):c.63C>T (p.Gly21=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1474088	NM_016373.4(WWOX):c.66G>T (p.Trp22Cys)	WWOX (W22C)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3027301	NM_016373.4(WWOX):c.69G>A (p.Glu23=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1669873	NM_016373.4(WWOX):c.72G>A (p.Glu24=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 1039606	NM_016373.4(WWOX):c.77CCA[1] (p.Thr27del)	WWOX (T27del)	Microsatellite (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 701808	NM_016373.4(WWOX):c.78C>T (p.Thr26=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GLikely benign
Select item 2035781	NM_016373.4(WWOX):c.81C>A (p.Thr27=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2417031	NM_016373.4(WWOX):c.82A>G (p.Lys28Glu)	WWOX (K28E)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 854717	NM_016373.4(WWOX):c.82A>C (p.Lys28Gln)	WWOX (K28Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GUncertain significance
Select item 540229	NM_016373.4(WWOX):c.90C>T (p.Gly30=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 1057897	NM_016373.4(WWOX):c.94G>A (p.Val32Ile)	WWOX (V32I)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 415950	NM_016373.4(WWOX):c.99C>T (p.Tyr33=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 241098	NM_016373.4(WWOX):c.101A>G (p.Tyr34Cys)	WWOX (Y34C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 2944786	NM_016373.4(WWOX):c.102C>T (p.Tyr34=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1180753	NM_016373.4(WWOX):c.102C>A (p.Tyr34Ter)	WWOX (Y34*)	Single nucleotide variant (5 prime UTR variant +2 more)	Abnormality of the nervous system	GLikely pathogenic
Select item 938023	NM_016373.4(WWOX):c.106A>G (p.Asn36Asp)	WWOX (N36D)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 493191	NM_016373.4(WWOX):c.107+2_107+5del	WWOX	Deletion (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 28 +1 more	GLikely pathogenic
Select item 1355835	NM_016373.4(WWOX):c.107A>T (p.Asn36Ile)	WWOX (N36I)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2940258	NM_016373.4(WWOX):c.107+1_107+2delinsTA	WWOX	Indel (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 1 +1 more	GPathogenic
Select item 689796	NM_016373.4(WWOX):c.107+1G>A	WWOX	Single nucleotide variant (non-coding transcript variant +1 more)	West syndrome +5 more	GPathogenic/Likely pathogenic

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