92255[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 1699215	NM_001007527.2(LMBRD2):c.2076T>G (p.Phe692Leu)	LMBRD2 (F692L)	Single nucleotide variant (missense variant)	Developmental delay with variable neurologic and brain abnormalities	GLikely benign
Select item 2211265	NM_001007527.2(LMBRD2):c.2015C>T (p.Ser672Phe)	LMBRD2 (S672F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119248	NM_001007527.2(LMBRD2):c.2012A>G (p.Glu671Gly)	LMBRD2 (E671G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526174	NM_001007527.2(LMBRD2):c.1948G>C (p.Glu650Gln)	LMBRD2 (E650Q)	Single nucleotide variant (missense variant)	LMBRD2-related disorder	GUncertain significance
Select item 2631686	NM_001007527.2(LMBRD2):c.1946T>C (p.Ile649Thr)	LMBRD2 (I649T)	Single nucleotide variant (missense variant)	LMBRD2-related disorder	GUncertain significance
Select item 3050035	NM_001007527.2(LMBRD2):c.1943G>A (p.Arg648Gln)	LMBRD2 (R648Q)	Single nucleotide variant (missense variant)	LMBRD2-related disorder	GLikely benign
Select item 3355267	NM_001007527.2(LMBRD2):c.1942C>T (p.Arg648Trp)	LMBRD2 (R648W)	Single nucleotide variant (missense variant)	LMBRD2-related disorder	GUncertain significance
Select item 2245216	NM_001007527.2(LMBRD2):c.1895G>A (p.Arg632His)	LMBRD2 (R632H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290904	NM_001007527.2(LMBRD2):c.1894C>T (p.Arg632Cys)	LMBRD2 (R632C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290906	NM_001007527.2(LMBRD2):c.1882G>A (p.Val628Ile)	LMBRD2 (V628I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2455770	NM_001007527.2(LMBRD2):c.1864G>A (p.Glu622Lys)	LMBRD2 (E622K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572338	NM_001007527.2(LMBRD2):c.1844A>C (p.Asn615Thr)	LMBRD2 (N615T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575645	NM_001007527.2(LMBRD2):c.1831A>G (p.Thr611Ala)	LMBRD2 (T611A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3119247	NM_001007527.2(LMBRD2):c.1808A>G (p.Tyr603Cys)	LMBRD2 (Y603C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699025	NM_001007527.2(LMBRD2):c.1792G>C (p.Glu598Gln)	LMBRD2 (E598Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3365855	NM_001007527.2(LMBRD2):c.1791+5G>A	LMBRD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3341416	NM_001007527.2(LMBRD2):c.1791+4A>G	LMBRD2	Single nucleotide variant (intron variant)	Developmental delay with variable neurologic and brain abnormalities	GUncertain significance
Select item 3119246	NM_001007527.2(LMBRD2):c.1759C>G (p.Gln587Glu)	LMBRD2 (Q587E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119245	NM_001007527.2(LMBRD2):c.1711T>G (p.Leu571Val)	LMBRD2 (L571V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253849	NM_001007527.2(LMBRD2):c.1705T>G (p.Ser569Ala)	LMBRD2 (S569A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119244	NM_001007527.2(LMBRD2):c.1646G>C (p.Gly549Ala)	LMBRD2 (G549A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359759	NM_001007527.2(LMBRD2):c.1642T>G (p.Leu548Val)	LMBRD2 (L548V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2692538	NM_001007527.2(LMBRD2):c.1599T>A (p.Tyr533Ter)	LMBRD2 (Y533*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3369230	NM_001007527.2(LMBRD2):c.1568C>G (p.Ser523Cys)	LMBRD2 (S523C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3370619	NM_001007527.2(LMBRD2):c.1555A>C (p.Met519Leu)	LMBRD2 (M519L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780519	NM_001007527.2(LMBRD2):c.1542+8C>T	LMBRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3290907	NM_001007527.2(LMBRD2):c.1496A>T (p.Asp499Val)	LMBRD2 (D499V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1701877	NM_001007527.2(LMBRD2):c.1460C>T (p.Pro487Leu)	LMBRD2 (P487L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2598143	NM_001007527.2(LMBRD2):c.1451T>C (p.Leu484Ser)	LMBRD2 (L484S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334128	NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His)	LMBRD2 (R483H)	Single nucleotide variant (missense variant)	See cases +4 more	GConflicting classifications of pathogenicity
Select item 982396	NM_001007527.2(LMBRD2):c.1447C>T (p.Arg483Cys)	LMBRD2 (R483C)	Single nucleotide variant (missense variant)	Developmental delay with variable neurologic and brain abnormalities	GLikely pathogenic
Select item 2671725	NM_001007527.2(LMBRD2):c.1442T>C (p.Phe481Ser)	LMBRD2 (F481S)	Single nucleotide variant (missense variant)	Developmental delay with variable neurologic and brain abnormalities	GUncertain significance
Select item 3119243	NM_001007527.2(LMBRD2):c.1391C>T (p.Ala464Val)	LMBRD2 (A464V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2050195	NM_001007527.2(LMBRD2):c.1385A>T (p.Tyr462Phe)	LMBRD2 (Y462F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780956	NM_001007527.2(LMBRD2):c.1335T>C (p.Ser445=)	LMBRD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3376457	NM_001007527.2(LMBRD2):c.1300G>A (p.Glu434Lys)	LMBRD2 (E434K)	Single nucleotide variant (missense variant)	Developmental delay with variable neurologic and brain abnormalities	GUncertain significance
Select item 2632687	NM_001007527.2(LMBRD2):c.1282T>C (p.Tyr428His)	LMBRD2 (Y428H)	Single nucleotide variant (missense variant)	LMBRD2-related disorder	GUncertain significance
Select item 2292078	NM_001007527.2(LMBRD2):c.1270G>A (p.Ala424Thr)	LMBRD2 (A424T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780957	NM_001007527.2(LMBRD2):c.1254G>A (p.Ala418=)	LMBRD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3353300	NM_001007527.2(LMBRD2):c.1253C>T (p.Ala418Val)	LMBRD2 (A418V)	Single nucleotide variant (missense variant)	LMBRD2-related disorder	GUncertain significance
Select item 3290903	NM_001007527.2(LMBRD2):c.1201G>A (p.Val401Met)	LMBRD2 (V401M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3341441	NM_001007527.2(LMBRD2):c.1172T>C (p.Val391Ala)	LMBRD2 (V391A)	Single nucleotide variant (missense variant)	Developmental delay with variable neurologic and brain abnormalities	GUncertain significance
Select item 2514338	NM_001007527.2(LMBRD2):c.1145G>A (p.Arg382Gln)	LMBRD2 (R382Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342470	NM_001007527.2(LMBRD2):c.1073C>T (p.Pro358Leu)	LMBRD2 (P358L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3119250	NM_001007527.2(LMBRD2):c.986T>C (p.Ile329Thr)	LMBRD2 (I329T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3342609	NM_001007527.2(LMBRD2):c.976C>G (p.Gln326Glu)	LMBRD2 (Q326E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2689372	NM_001007527.2(LMBRD2):c.895A>G (p.Ile299Val)	LMBRD2 (I299V)	Single nucleotide variant (missense variant)	Developmental delay with variable neurologic and brain abnormalities	GUncertain significance
Select item 2270834	NM_001007527.2(LMBRD2):c.853A>G (p.Arg285Gly)	LMBRD2 (R285G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265128	NM_001007527.2(LMBRD2):c.829A>G (p.Thr277Ala)	LMBRD2 (T277A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 809744	NM_001007527.2(LMBRD2):c.820A>G (p.Lys274Glu)	LMBRD2 (K274E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412454	NM_001007527.2(LMBRD2):c.811A>G (p.Ile271Val)	LMBRD2 (I271V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237411	NM_001007527.2(LMBRD2):c.755G>A (p.Arg252His)	LMBRD2 (R252H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574925	NM_001007527.2(LMBRD2):c.743T>C (p.Met248Thr)	LMBRD2 (M248T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1515907	NM_001007527.2(LMBRD2):c.671T>C (p.Met224Thr)	LMBRD2 (M224T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369970	NM_001007527.2(LMBRD2):c.613G>A (p.Gly205Ser)	LMBRD2 (G205S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367033	NM_001007527.2(LMBRD2):c.598TTG[2] (p.Leu202del)	LMBRD2 (L202del)	Microsatellite (inframe_deletion)	Developmental delay with variable neurologic and brain abnormalities	GUncertain significance
Select item 1690363	NM_001007527.2(LMBRD2):c.581G>A (p.Gly194Asp)	LMBRD2 (G194D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299451	NM_001007527.2(LMBRD2):c.577T>C (p.Trp193Arg)	LMBRD2 (W193R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664750	NM_001007527.2(LMBRD2):c.553dup (p.Ile185fs)	LMBRD2 (I185fs)	Duplication (frameshift variant)	Developmental delay with variable neurologic and brain abnormalities	GUncertain significance
Select item 2356562	NM_001007527.2(LMBRD2):c.553A>G (p.Ile185Val)	LMBRD2 (I185V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385252	NM_001007527.2(LMBRD2):c.539A>C (p.Asn180Thr)	LMBRD2 (N180T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710393	NM_001007527.2(LMBRD2):c.537-1G>A	LMBRD2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2476916	NM_001007527.2(LMBRD2):c.505G>A (p.Val169Ile)	LMBRD2 (V169I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119249	NM_001007527.2(LMBRD2):c.500T>C (p.Ile167Thr)	LMBRD2 (I167T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248917	NM_001007527.2(LMBRD2):c.446T>C (p.Ile149Thr)	LMBRD2 (I149T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2701447	NM_001007527.2(LMBRD2):c.418A>G (p.Ile140Val)	LMBRD2 (I140V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334129	NM_001007527.2(LMBRD2):c.367T>C (p.Trp123Arg)	LMBRD2 (W123R)	Single nucleotide variant (missense variant)	LMBRD2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3251795	NM_001007527.2(LMBRD2):c.319A>G (p.Met107Val)	LMBRD2 (M107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787283	NM_001007527.2(LMBRD2):c.276G>A (p.Gln92=)	LMBRD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778184	NM_001007527.2(LMBRD2):c.275A>G (p.Gln92Arg)	LMBRD2 (Q92R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2372348	NM_001007527.2(LMBRD2):c.193A>G (p.Lys65Glu)	LMBRD2 (K65E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3376018	NM_001007527.2(LMBRD2):c.151A>C (p.Ile51Leu)	LMBRD2 (I51L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699429	NM_001007527.2(LMBRD2):c.149T>C (p.Phe50Ser)	LMBRD2 (F50S)	Single nucleotide variant (missense variant)	Developmental delay with variable neurologic and brain abnormalities	GLikely pathogenic
Select item 2662066	NM_001007527.2(LMBRD2):c.145G>T (p.Val49Phe)	LMBRD2 (V49F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2490388	NM_001007527.2(LMBRD2):c.121G>T (p.Ala41Ser)	LMBRD2 (A41S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290905	NM_001007527.2(LMBRD2):c.110G>A (p.Gly37Glu)	LMBRD2 (G37E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2673009	NM_001007527.2(LMBRD2):c.82A>G (p.Lys28Glu)	LMBRD2 (K28E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685154	GRCh37/hg19 5p13.2(chr5:36100600-36214209)x1	LMBRD2, NADK2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	AGXT2, AMACR +32 more	Duplication	not provided	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	ANXA2R, C5orf34 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 814680	GRCh37/hg19 5p13.2(chr5:35382352-36123330)x3	CAPSL, LMBRD2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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