ClinVar for Gene (Select 81562) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290885	NM_030805.4(LMAN2L):c.834A>T (p.Arg278Ser)	LMAN2L (R278S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290884	NM_030805.4(LMAN2L):c.28T>C (p.Ser10Pro)	LMAN2L (S10P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290883	NM_030805.4(LMAN2L):c.628G>A (p.Asp210Asn)	LMAN2L (D221N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242291	GRCh37/hg19 2q11.1-11.2(chr2:96555654-98024790)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	not provided	GUncertain significance
Select item 3119229	NM_030805.4(LMAN2L):c.952G>A (p.Val318Ile)	LMAN2L (V180I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119228	NM_030805.4(LMAN2L):c.739C>G (p.Arg247Gly)	LMAN2L (R102G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119227	NM_030805.4(LMAN2L):c.713T>C (p.Ile238Thr)	LMAN2L (I104T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119226	NM_030805.4(LMAN2L):c.658A>G (p.Arg220Gly)	LMAN2L (R75G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119225	NM_030805.4(LMAN2L):c.544G>A (p.Gly182Ser)	LMAN2L (G193S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119224	NM_030805.4(LMAN2L):c.39G>C (p.Gln13His)	LMAN2L (Q13H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119223	NM_030805.4(LMAN2L):c.29C>T (p.Ser10Leu)	LMAN2L (S10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068156	NM_030805.4(LMAN2L):c.424+1G>A	LMAN2L	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 52	GUncertain significance
Select item 3062623	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98212850)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3058632	NM_030805.4(LMAN2L):c.*5T>G	LMAN2L	Single nucleotide variant (3 prime UTR variant)	LMAN2L-related disorder	GLikely benign
Select item 3052169	NM_030805.4(LMAN2L):c.819A>G (p.Glu273=)	LMAN2L	Single nucleotide variant (synonymous variant)	LMAN2L-related disorder	GLikely benign
Select item 3049971	NM_030805.4(LMAN2L):c.307-10C>T	LMAN2L	Single nucleotide variant (intron variant)	LMAN2L-related disorder	GLikely benign
Select item 3046270	NM_030805.4(LMAN2L):c.62G>A (p.Arg21Gln)	LMAN2L (R21Q)	Single nucleotide variant (missense variant +1 more)	LMAN2L-related disorder	GUncertain significance
Select item 3042878	NM_030805.4(LMAN2L):c.339G>A (p.Val113=)	LMAN2L	Single nucleotide variant (synonymous variant +1 more)	LMAN2L-related disorder	GLikely benign
Select item 3025408	NM_030805.4(LMAN2L):c.18A>T (p.Gly6=)	LMAN2L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024612	GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1	CIAO1, CNNM3 +19 more	Copy number loss	not provided	GPathogenic
Select item 2685859	GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3	ACTR1B, ADRA2B +27 more	Copy number gain	not provided	GUncertain significance
Select item 2685858	GRCh37/hg19 2q11.1-11.2(chr2:96732520-97671333)x3	ADRA2B, ANKRD23 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2671593	Single allele	ADRA2B, ANKRD23 +20 more	Deletion	not provided	GUncertain significance
Select item 2651152	NM_030805.4(LMAN2L):c.141G>A (p.Thr47=)	LMAN2L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2651151	NM_030805.4(LMAN2L):c.180C>G (p.Pro60=)	LMAN2L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2651150	NM_030805.4(LMAN2L):c.190G>A (p.Val64Met)	LMAN2L (V64M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2651149	NM_030805.4(LMAN2L):c.294G>A (p.Leu98=)	LMAN2L	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2651148	NM_030805.4(LMAN2L):c.568C>T (p.Arg190Trp)	LMAN2L (R190W +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651147	NM_030805.4(LMAN2L):c.651C>T (p.Tyr217=)	LMAN2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600251	NM_030805.4(LMAN2L):c.539A>G (p.Asn180Ser)	LMAN2L (N35S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546493	NM_030805.4(LMAN2L):c.731G>T (p.Arg244Leu)	LMAN2L (R117L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528485	NM_030805.4(LMAN2L):c.646C>T (p.Arg216Cys)	LMAN2L (R216C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526232	NM_030805.4(LMAN2L):c.5C>T (p.Ala2Val)	LMAN2L (A2V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2522746	NM_030805.4(LMAN2L):c.976G>A (p.Val326Ile)	LMAN2L (V188I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513630	NM_030805.4(LMAN2L):c.1031G>A (p.Arg344Gln)	LMAN2L (R199Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459314	NM_030805.4(LMAN2L):c.23T>A (p.Leu8His)	LMAN2L (L8H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2433464	NM_030805.4(LMAN2L):c.22dup (p.Leu8fs)	LMAN2L (L8fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2332104	NM_030805.4(LMAN2L):c.617A>G (p.Asn206Ser)	LMAN2L (N217S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271812	NM_030805.4(LMAN2L):c.971T>G (p.Phe324Cys)	LMAN2L (F197C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245182	NM_030805.4(LMAN2L):c.482A>G (p.Tyr161Cys)	LMAN2L (Y161C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232899	NM_030805.4(LMAN2L):c.1037G>A (p.Arg346His)	LMAN2L (R201H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1710494	NM_030805.4(LMAN2L):c.740G>A (p.Arg247His)	LMAN2L (R102H +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 52	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1701845	NM_030805.4(LMAN2L):c.508-1102C>T	LMAN2L (R174* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 1696693	NM_030805.4(LMAN2L):c.187+4A>C	LMAN2L	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 52	GUncertain significance
Select item 1696549	NM_030805.4(LMAN2L):c.785-273A>G	LMAN2L	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 52	GUncertain significance
Select item 1695987	NM_030805.4(LMAN2L):c.1040del (p.Phe347fs)	LMAN2L (F202fs +5 more)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal dominant 69	GPathogenic
Select item 1443631	NC_000002.11:g.(?_96780545)_(97475254_?)dup	DUSP2, LMAN2L +12 more	Duplication	not provided	GUncertain significance
Select item 1343717	NM_030805.4(LMAN2L):c.373_374del (p.Leu125fs)	LMAN2L (I7fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1340229	GRCh37/hg19 2q11.1-11.2(chr2:96544603-98025634)x3	ADRA2B, ANKRD23 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1047904	GRCh37/hg19 2q11.1-11.2(chr2:96755045-98021592)	CIAO1, CNNM3 +19 more	Copy number loss	Cleft lip +1 more	GPathogenic
Select item 1031876	NM_030805.4(LMAN2L):c.776A>T (p.Asp259Val)	LMAN2L (D125V +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 52	GUncertain significance
Select item 1030200	NM_030805.4(LMAN2L):c.652G>A (p.Val218Ile)	LMAN2L (V229I +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 52	GUncertain significance
Select item 1030199	NM_030805.4(LMAN2L):c.46C>A (p.Arg16=)	LMAN2L	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 52 +1 more	GUncertain significance
Select item 1030198	NM_030805.4(LMAN2L):c.424+11C>T	LMAN2L	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 52	GUncertain significance
Select item 1012955	NM_030805.4(LMAN2L):c.867G>A (p.Val289=)	LMAN2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1004380	NC_000002.11:g.(?_97399256)_(97428138_?)dup	CNNM4, LMAN2L	Duplication	not provided	GUncertain significance
Select item 997821	Single allele	ANKRD36B, ANKRD39 +20 more	Deletion	Intellectual disability	GPathogenic
Select item 980467	GRCh37/hg19 2q11.1-11.2(chr2:96544602-97706860)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	not provided	GUncertain significance
Select item 980466	GRCh37/hg19 2q11.1-11.2(chr2:96421161-97765561)x1	ASTL, CIAO1 +20 more	Copy number loss	not provided	GUncertain significance
Select item 980465	GRCh37/hg19 2q11.1-11.2(chr2:96515883-98162176)x3	ARID5A, ASTL +22 more	Copy number gain	not provided	GUncertain significance
Select item 929377	GRCh37/hg19 2q11.1-11.2(chr2:96737083-98193473)x3	CIAO1, CNNM3 +20 more	Copy number gain	See cases	GUncertain significance
Select item 929311	GRCh37/hg19 2q11.1-11.2(chr2:96737083-98261802)x1	CNNM3, CNNM4 +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 831980	NC_000002.12:g.(?_96733519)_(96832047_?)del	CNNM3, CNNM4 +1 more	Deletion	not provided	GPathogenic
Select item 831314	NC_000002.12:g.(?_96537365)_(97009221_?)dup	ARID5A, CNNM3 +8 more	Duplication	not provided	GUncertain significance
Select item 814284	GRCh37/hg19 2q11.1-11.2(chr2:96732519-98118115)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	not provided	GUncertain significance
Select item 814283	GRCh37/hg19 2q11.1-11.2(chr2:96712139-98254657)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 775745	NM_030805.4(LMAN2L):c.784+10C>T	LMAN2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 758779	NM_030805.4(LMAN2L):c.733C>T (p.Leu245=)	LMAN2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744658	NM_030805.4(LMAN2L):c.855C>T (p.Leu285=)	LMAN2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736359	NM_030805.4(LMAN2L):c.825A>G (p.Thr275=)	LMAN2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687873	GRCh37/hg19 2q11.1-11.2(chr2:96552903-98118115)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	not provided	GPathogenic
Select item 685047	GRCh37/hg19 2q11.1-11.2(chr2:96515883-98025634)x3	ASTL, CIAO1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 638119	GRCh37/hg19 2q11.1-11.2(chr2:96747466-98193473)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562643	GRCh37/hg19 2q11.1-11.2(chr2:96544602-98138405)x1	ADRA2B, ANKRD23 +22 more	Copy number loss	not provided	GUncertain significance
Select item 562641	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98258828)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 545284	NC_000002.12:g.(?_96063558)_(97079140_?)del	ADRA2B, ANKRD23 +115 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443435	GRCh37/hg19 2q11.1-11.2(chr2:96468158-97871906)x3	ADRA2B, ANKRD23 +21 more	Copy number gain	See cases	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 443169	GRCh37/hg19 2q11.1-11.2(chr2:96712139-98249638)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442814	GRCh37/hg19 2q11.1-11.2(chr2:96732519-98225552)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	See cases	GLikely benign
Select item 441953	GRCh37/hg19 2q11.1-11.2(chr2:96097383-97679933)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	See cases	GUncertain significance
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 395658	GRCh37/hg19 2q11.1-11.2(chr2:96778661-97757978)x3	ADRA2B, ANKRD23 +18 more	Copy number gain	See cases	GUncertain significance
Select item 395484	GRCh37/hg19 2q11.1-11.2(chr2:96698012-97757442)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	See cases	GUncertain significance
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic
Select item 224890	NM_030805.4(LMAN2L):c.158G>A (p.Arg53Gln)	LMAN2L (R53Q)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 52	GPathogenic
Select item 160960	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 155075	GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3	ADRA2B, ANKRD23 +123 more	Copy number gain	See cases	GLikely benign
Select item 154747	GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 154733	GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1	KANSL3, LMAN2L +123 more	Copy number loss	See cases	GPathogenic
Select item 153955	GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic

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