ClinVar for Gene (Select 57687) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3188271	NM_020927.3(VAT1L):c.94G>A (p.Gly32Ser)	VAT1L (G32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188270	NM_020927.3(VAT1L):c.838A>G (p.Met280Val)	VAT1L (M280V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188269	NM_020927.3(VAT1L):c.833C>G (p.Ser278Cys)	VAT1L (S278C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188268	NM_020927.3(VAT1L):c.727T>C (p.Ser243Pro)	VAT1L (S243P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188267	NM_020927.3(VAT1L):c.638C>G (p.Ala213Gly)	VAT1L (A213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188266	NM_020927.3(VAT1L):c.469G>A (p.Glu157Lys)	VAT1L (E157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188265	NM_020927.3(VAT1L):c.44T>A (p.Met15Lys)	VAT1L (M15K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188264	NM_020927.3(VAT1L):c.16G>A (p.Val6Met)	VAT1L (V6M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188263	NM_020927.3(VAT1L):c.1241G>A (p.Arg414Gln)	VAT1L (R414Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188262	NM_020927.3(VAT1L):c.1228G>A (p.Glu410Lys)	VAT1L (E410K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188260	NM_020927.3(VAT1L):c.1206G>T (p.Glu402Asp)	VAT1L (E402D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063470	GRCh37/hg19 16q23.1(chr16:75947360-78217943)x3	ADAMTS18, CLEC3A +6 more	Copy number gain	not specified	GUncertain significance
Select item 2684820	GRCh37/hg19 16q23.1(chr16:77075284-78151019)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684818	GRCh37/hg19 16q23.1(chr16:76969076-78821137)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2606974	NM_020927.3(VAT1L):c.994C>T (p.Arg332Trp)	VAT1L (R332W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556906	NM_020927.3(VAT1L):c.1042A>C (p.Lys348Gln)	VAT1L (K348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548225	NM_020927.3(VAT1L):c.95G>C (p.Gly32Ala)	VAT1L (G32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538082	NM_020927.3(VAT1L):c.749T>A (p.Val250Asp)	VAT1L (V250D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535427	NM_020927.3(VAT1L):c.535C>T (p.Arg179Trp)	VAT1L (R179W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521224	NM_020927.3(VAT1L):c.116C>T (p.Ala39Val)	VAT1L (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462523	NM_020927.3(VAT1L):c.106C>T (p.Leu36Phe)	VAT1L (L36F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395184	NM_020927.3(VAT1L):c.26C>A (p.Ala9Glu)	VAT1L (A9E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388669	NM_020927.3(VAT1L):c.115G>A (p.Ala39Thr)	VAT1L (A39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368926	NM_020927.3(VAT1L):c.685T>G (p.Phe229Val)	VAT1L (F229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348239	NM_020927.3(VAT1L):c.803C>G (p.Pro268Arg)	VAT1L (P268R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340118	NM_020927.3(VAT1L):c.1012C>A (p.Leu338Ile)	VAT1L (L338I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319645	NM_020927.3(VAT1L):c.499A>G (p.Thr167Ala)	VAT1L (T167A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318038	NM_020927.3(VAT1L):c.610G>T (p.Val204Phe)	VAT1L (V204F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306936	NM_020927.3(VAT1L):c.861C>G (p.Ser287Arg)	VAT1L (S287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304840	NM_020927.3(VAT1L):c.1224C>A (p.Asp408Glu)	VAT1L (D408E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267358	NM_020927.3(VAT1L):c.1175G>A (p.Ser392Asn)	VAT1L (S392N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258389	NM_020927.3(VAT1L):c.706G>T (p.Val236Leu)	VAT1L (V236L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250201	NM_020927.3(VAT1L):c.1219G>A (p.Gly407Arg)	VAT1L (G407R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223056	NM_020927.3(VAT1L):c.1016T>C (p.Ile339Thr)	VAT1L (I339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212420	NM_020927.3(VAT1L):c.293C>G (p.Thr98Ser)	VAT1L (T98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809401	GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1	ADAMTS18, ADAT1 +29 more	Copy number loss	not provided	GUncertain significance
Select item 1808954	GRCh37/hg19 16q23.1(chr16:77127830-79168848)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	not provided	GUncertain significance
Select item 1807619	GRCh37/hg19 16q23.1(chr16:77323050-77931019)x3	ADAMTS18, NUDT7 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1526526	GRCh37/hg19 16q23.1-23.2(chr16:77960664-81429258)	ATMIN, BCO1 +12 more	Copy number loss	not specified	GUncertain significance
Select item 1341791	NC_000016.10:g.77893032_78561479dup	CLEC3A, LOC110120570 +32 more	Duplication	Developmental and epileptic encephalopathy, 28	GUncertain significance
Select item 980692	GRCh37/hg19 16q23.1(chr16:77451482-78341924)x3	CLEC3A, VAT1L +3 more	Copy number gain	not provided	GUncertain significance
Select item 980691	GRCh37/hg19 16q23.1(chr16:77928003-78594966)x4	VAT1L, CLEC3A +1 more	Copy number gain	not provided	GLikely benign
Select item 974793	GRCh37/hg19 16q23.1(chr16:77896747-79037091)x1	WWOX, CLEC3A +1 more	Copy number loss	Intellectual disability +1 more	GLikely benign
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815844	GRCh37/hg19 16q23.1(chr16:77963711-78463588)x3	VAT1L, WWOX +1 more	Copy number gain	not provided	GUncertain significance
Select item 815843	GRCh37/hg19 16q23.1(chr16:77826202-78334723)x3	VAT1L, WWOX +1 more	Copy number gain	not provided	GUncertain significance
Select item 815842	GRCh37/hg19 16q23.1(chr16:77826202-78379662)x3	VAT1L, WWOX +1 more	Copy number gain	not provided	GUncertain significance
Select item 815839	GRCh37/hg19 16q23.1(chr16:77191839-77856232)x1	MON1B, ADAMTS18 +3 more	Copy number loss	not provided	GUncertain significance
Select item 815838	GRCh37/hg19 16q23.1(chr16:77112563-79015106)x3	CLEC3A, WWOX +5 more	Copy number gain	not provided	GUncertain significance
Select item 688615	GRCh37/hg19 16q23.1(chr16:77067527-78159698)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	not provided	GUncertain significance
Select item 687626	GRCh37/hg19 16q23.1(chr16:77874689-77977624)x1	VAT1L	Copy number loss	not provided	GUncertain significance
Select item 686270	GRCh37/hg19 16q23.1(chr16:77956365-78795975)x3	CLEC3A, VAT1L +1 more	Copy number gain	not provided	GUncertain significance
Select item 685320	GRCh37/hg19 16q23.1(chr16:77834426-78227247)x3	CLEC3A, VAT1L +1 more	Copy number gain	not provided	GUncertain significance
Select item 624464	GRCh37/hg19 16q23.1(chr16:77981957-79037091)x1	CLEC3A, VAT1L +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 564352	GRCh37/hg19 16q23.1(chr16:77930189-78594966)x3	WWOX, CLEC3A +1 more	Copy number gain	not provided	GUncertain significance
Select item 564351	GRCh37/hg19 16q23.1(chr16:77847310-77944020)x1	VAT1L	Copy number loss	not provided	GLikely benign
Select item 564349	GRCh37/hg19 16q23.1(chr16:77087399-78395997)x3	ADAMTS18, MON1B +5 more	Copy number gain	not provided	GUncertain significance
Select item 564348	GRCh37/hg19 16q23.1(chr16:76955286-79080596)x3	MON1B, VAT1L +5 more	Copy number gain	not provided	GUncertain significance
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 446361	GRCh37/hg19 16q23.1(chr16:77756613-78960323)x3	CLEC3A, NUDT7 +2 more	Copy number gain	See cases	GUncertain significance
Select item 443160	GRCh37/hg19 16q23.1(chr16:77031380-78324120)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	See cases	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443125	GRCh37/hg19 16q23.1(chr16:76820552-77914926)x3	ADAMTS18, MON1B +3 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 442207	GRCh37/hg19 16q23.1(chr16:77157651-78354060)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 236386	Single allele	CLEC3A, VAT1L +1 more	Duplication	Autism spectrum disorder	Gassociation
Select item 236385	Single allele	CLEC3A, VAT1L +1 more	Duplication	Autism spectrum disorder	Gassociation
Select item 236384	Single allele	WWOX, CLEC3A +2 more	Duplication	Autism spectrum disorder	Gassociation
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	SLC7A6, SLC7A6OS +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218968	t(5;16)(p15.31;q23.1)	ACSF3, ADAD2 +150 more	Translocation	not provided	GLikely pathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 153083	GRCh38/hg38 16q23.1(chr16:77637681-78064640)x1	CLEC3A, LOC112486208 +20 more	Copy number loss	See cases	GUncertain significance
Select item 151489	GRCh38/hg38 16q23.1(chr16:77630519-78171567)x3	CLEC3A, LOC112486208 +26 more	Copy number gain	See cases	GUncertain significance
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 148865	GRCh38/hg38 16q23.1(chr16:77424774-77974156)x3	ADAMTS18, LINC02131 +9 more	Copy number gain	See cases	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 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 148295	GRCh38/hg38 16q23.1(chr16:77624088-78386825)x3	CLEC3A, LOC112486208 +33 more	Copy number gain	See cases	GLikely benign
Select item 146994	GRCh38/hg38 16q23.1(chr16:77613187-78311038)x3	CLEC3A, LOC112486208 +30 more	Copy number gain	See cases	GUncertain significance
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 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 145661	GRCh38/hg38 16q23.1(chr16:77637681-78153207)x3	CLEC3A, LOC112486208 +25 more	Copy number gain	See cases	GLikely benign
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 60027	GRCh38/hg38 16q23.1(chr16:77960806-78620032)x3	CLEC3A, LOC110120570 +31 more	Copy number gain	See cases	GUncertain significance

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