CRISPLD2[gene] - 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 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 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 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	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 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	See cases	GPathogenic
Select item 144447	GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1	ADAD2, ATP2C2 +93 more	Copy number loss	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +203 more	Copy number loss	See cases	GPathogenic
Select item 146470	GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3	ADAD2, KCNG4 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 545214	NC_000016.10:g.(?_84593050)_(85516675_?)del	LOC121847997, LOC125177366 +70 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 2350573	NM_031476.4(CRISPLD2):c.50T>G (p.Val17Gly)	CRISPLD2 (V17G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035723	NM_031476.4(CRISPLD2):c.65G>A (p.Gly22Asp)	CRISPLD2 (G22D)	Single nucleotide variant (missense variant)	CRISPLD2-related disorder	GLikely benign
Select item 3050229	NM_031476.4(CRISPLD2):c.81C>T (p.Asn27=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 2533896	NM_031476.4(CRISPLD2):c.103C>T (p.Leu35Phe)	CRISPLD2 (L35F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354312	NM_031476.4(CRISPLD2):c.128C>T (p.Ser43Phe)	CRISPLD2 (S43F)	Single nucleotide variant (missense variant)	CRISPLD2-related disorder	GUncertain significance
Select item 3077513	NM_031476.4(CRISPLD2):c.158G>C (p.Arg53Thr)	CRISPLD2 (R53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555482	NM_031476.4(CRISPLD2):c.163G>T (p.Asp55Tyr)	CRISPLD2 (D55Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362153	NM_031476.4(CRISPLD2):c.202G>A (p.Gly68Ser)	CRISPLD2 (G68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031415	NM_031476.4(CRISPLD2):c.207G>T (p.Gln69His)	CRISPLD2 (Q69H)	Single nucleotide variant (missense variant)	CRISPLD2-related disorder	GUncertain significance
Select item 2592389	NM_031476.4(CRISPLD2):c.226A>G (p.Asn76Asp)	CRISPLD2 (N76D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317385	NM_031476.4(CRISPLD2):c.280G>C (p.Ala94Pro)	CRISPLD2 (A94P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048863	NM_031476.4(CRISPLD2):c.306G>A (p.Gly102=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 3077514	NM_031476.4(CRISPLD2):c.341T>C (p.Leu114Pro)	CRISPLD2 (L114P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321921	NM_031476.4(CRISPLD2):c.346G>A (p.Ala116Thr)	CRISPLD2 (A116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548967	NM_031476.4(CRISPLD2):c.349C>T (p.His117Tyr)	CRISPLD2 (H117Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051548	NM_031476.4(CRISPLD2):c.360-7C>T	CRISPLD2	Single nucleotide variant (intron variant)	CRISPLD2-related disorder	GLikely benign
Select item 2534925	NM_031476.4(CRISPLD2):c.365G>A (p.Arg122His)	CRISPLD2 (R122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049850	NM_031476.4(CRISPLD2):c.366C>T (p.Arg122=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 3077515	NM_031476.4(CRISPLD2):c.370C>G (p.Pro124Ala)	CRISPLD2 (P124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044536	NM_031476.4(CRISPLD2):c.372G>C (p.Pro124=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 3269550	NM_031476.4(CRISPLD2):c.379C>T (p.His127Tyr)	CRISPLD2 (H127Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208821	NM_031476.4(CRISPLD2):c.422C>T (p.Pro141Leu)	CRISPLD2 (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710712	NM_031476.4(CRISPLD2):c.432C>A (p.Ser144Arg)	CRISPLD2 (S144R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3269551	NM_031476.4(CRISPLD2):c.439A>C (p.Asn147His)	CRISPLD2 (N147H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270963	NM_031476.4(CRISPLD2):c.446G>C (p.Trp149Ser)	CRISPLD2 (W149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279971	NM_031476.4(CRISPLD2):c.466G>A (p.Gly156Arg)	CRISPLD2 (G156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777049	NM_031476.4(CRISPLD2):c.519C>T (p.Ile173=)	CRISPLD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2517716	NM_031476.4(CRISPLD2):c.536C>G (p.Thr179Ser)	CRISPLD2 (T179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269545	NM_031476.4(CRISPLD2):c.541C>T (p.Arg181Trp)	CRISPLD2 (R181W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408968	NM_031476.4(CRISPLD2):c.542G>A (p.Arg181Gln)	CRISPLD2 (R181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287711	NM_031476.4(CRISPLD2):c.549G>C (p.Met183Ile)	CRISPLD2 (M183I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269548	NM_031476.4(CRISPLD2):c.553G>C (p.Val185Leu)	CRISPLD2 (V185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048360	NM_031476.4(CRISPLD2):c.573G>A (p.Glu191=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 3046859	NM_031476.4(CRISPLD2):c.576C>T (p.Asn192=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 3077516	NM_031476.4(CRISPLD2):c.614A>C (p.Asn205Thr)	CRISPLD2 (N205T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077517	NM_031476.4(CRISPLD2):c.635A>G (p.Tyr212Cys)	CRISPLD2 (Y212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077519	NM_031476.4(CRISPLD2):c.646C>T (p.Arg216Trp)	CRISPLD2 (R216W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720481	NM_031476.4(CRISPLD2):c.681C>T (p.Gly227=)	CRISPLD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3056972	NM_031476.4(CRISPLD2):c.709+7A>G	CRISPLD2	Single nucleotide variant (intron variant)	CRISPLD2-related disorder	GBenign
Select item 3042010	NM_031476.4(CRISPLD2):c.784C>G (p.His262Asp)	CRISPLD2 (H262D)	Single nucleotide variant (missense variant)	CRISPLD2-related disorder	GLikely benign
Select item 2278079	NM_031476.4(CRISPLD2):c.787G>A (p.Val263Ile)	CRISPLD2 (V263I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269546	NM_031476.4(CRISPLD2):c.800C>T (p.Pro267Leu)	CRISPLD2 (P267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778617	NM_031476.4(CRISPLD2):c.808A>G (p.Met270Val)	CRISPLD2 (M270V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2619640	NM_031476.4(CRISPLD2):c.815C>G (p.Pro272Arg)	CRISPLD2 (P272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458482	NM_031476.4(CRISPLD2):c.833C>A (p.Thr278Asn)	CRISPLD2 (T278N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646929	NM_031476.4(CRISPLD2):c.852G>A (p.Met284Ile)	CRISPLD2 (M284I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3269553	NM_031476.4(CRISPLD2):c.877A>G (p.Lys293Glu)	CRISPLD2 (K293E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770793	NM_031476.4(CRISPLD2):c.914+24_914+59del	CRISPLD2	Deletion (intron variant)	not provided	GBenign
Select item 3036636	NM_031476.4(CRISPLD2):c.915-5G>A	CRISPLD2	Single nucleotide variant (intron variant)	CRISPLD2-related disorder	GLikely benign
Select item 3269549	NM_031476.4(CRISPLD2):c.949G>A (p.Ala317Thr)	CRISPLD2 (A317T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269002	NM_031476.4(CRISPLD2):c.959T>C (p.Phe320Ser)	CRISPLD2 (F320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535684	NM_031476.4(CRISPLD2):c.979A>G (p.Ser327Gly)	CRISPLD2 (S327G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052312	NM_031476.4(CRISPLD2):c.981C>T (p.Ser327=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GBenign
Select item 3077506	NM_031476.4(CRISPLD2):c.1024G>T (p.Asp342Tyr)	CRISPLD2 (D342Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035146	NM_031476.4(CRISPLD2):c.1029C>T (p.Asp343=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GBenign
Select item 2369332	NM_031476.4(CRISPLD2):c.1031A>T (p.Lys344Met)	CRISPLD2 (K344M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471463	NM_031476.4(CRISPLD2):c.1052C>T (p.Thr351Ile)	CRISPLD2 (T351I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032242	NM_031476.4(CRISPLD2):c.1077C>T (p.Phe359=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 2359029	NM_031476.4(CRISPLD2):c.1078G>A (p.Val360Met)	CRISPLD2 (V360M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050511	NM_031476.4(CRISPLD2):c.1080G>A (p.Val360=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 768803	NM_031476.4(CRISPLD2):c.1113-5A>C	CRISPLD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3077507	NM_031476.4(CRISPLD2):c.1139T>C (p.Met380Thr)	CRISPLD2 (M380T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077508	NM_031476.4(CRISPLD2):c.1150G>C (p.Val384Leu)	CRISPLD2 (V384L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044664	NM_031476.4(CRISPLD2):c.1157-9T>C	CRISPLD2	Single nucleotide variant (intron variant)	CRISPLD2-related disorder	GBenign
Select item 3054437	NM_031476.4(CRISPLD2):c.1173C>T (p.Cys391=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 781230	NM_031476.4(CRISPLD2):c.1206A>G (p.Glu402=)	CRISPLD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3269547	NM_031476.4(CRISPLD2):c.1243G>T (p.Ala415Ser)	CRISPLD2, LOC126862429 (A415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466299	NM_031476.4(CRISPLD2):c.1258G>A (p.Glu420Lys)	CRISPLD2, LOC126862429 (E420K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783066	NM_031476.4(CRISPLD2):c.1292A>G (p.Asn431Ser)	CRISPLD2, LOC126862429 (N431S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 733927	NM_031476.4(CRISPLD2):c.1301C>G (p.Ala434Gly)	CRISPLD2, LOC126862429 (A434G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3043906	NM_031476.4(CRISPLD2):c.1305+7A>C	CRISPLD2, LOC126862429	Single nucleotide variant (intron variant)	CRISPLD2-related disorder	GLikely benign
Select item 2646930	NM_031476.4(CRISPLD2):c.1305+21A>G	CRISPLD2, LOC126862429	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2646931	NM_031476.4(CRISPLD2):c.1305+27A>G	CRISPLD2, LOC126862429	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3352712	NM_031476.4(CRISPLD2):c.1315A>G (p.Ile439Val)	CRISPLD2 (I439V)	Single nucleotide variant (missense variant)	CRISPLD2-related disorder	GLikely benign
Select item 2285935	NM_031476.4(CRISPLD2):c.1317C>G (p.Ile439Met)	CRISPLD2 (I439M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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