3930[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC126806027, LOC126806028 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932702, LOC129932703 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 more	Copy number gain	See cases	GPathogenic
Select item 154238	GRCh38/hg38 1q42.12(chr1:224722478-225761035)x1	CNIH3, CNIH3-AS1 +31 more	Copy number loss	See cases	GUncertain significance
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	LOC129932697, LOC129932698 +309 more	Copy number loss	See cases	GPathogenic
Select item 876956	NM_002296.4(LBR):c.*1800C>T	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 876957	NM_002296.4(LBR):c.*1769A>T	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 876958	NM_002296.4(LBR):c.*1595A>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 876959	NM_002296.4(LBR):c.*1586G>A	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 295917	NM_002296.4(LBR):c.*1532G>A	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GBenign
Select item 876960	NM_002296.4(LBR):c.*1498T>C	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 295918	NM_002296.4(LBR):c.*1361T>C	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GBenign
Select item 295919	NM_002296.4(LBR):c.*1305C>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 874168	NM_002296.4(LBR):c.*1201A>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 295920	NM_002296.4(LBR):c.*1200T>C	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 295921	NM_002296.4(LBR):c.*1128G>A	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 295922	NM_002296.4(LBR):c.*1049C>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 295923	NM_002296.4(LBR):c.*769A>T	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GBenign
Select item 295924	NM_002296.4(LBR):c.*686A>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 295925	NM_002296.4(LBR):c.*656G>A	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GLikely benign
Select item 295926	NM_002296.4(LBR):c.*624T>A	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 875094	NM_002296.4(LBR):c.*362T>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 295927	NM_002296.4(LBR):c.*330T>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GBenign
Select item 295928	NM_002296.4(LBR):c.*255C>G	LBR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 875095	NM_002296.4(LBR):c.*33C>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 875096	NM_002296.4(LBR):c.*27C>T	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 1019700	NM_002296.4(LBR):c.1831T>G (p.Phe611Val)	LBR (F611V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 295929	NM_002296.4(LBR):c.1828A>G (p.Ile610Val)	LBR (I610V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1055309	NM_002296.4(LBR):c.1826G>A (p.Arg609His)	LBR (R609H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081506	NM_002296.4(LBR):c.1820C>A (p.Pro607His)	LBR (P607H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975062	NM_002296.4(LBR):c.1818G>A (p.Val606=)	LBR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 875097	NM_002296.4(LBR):c.1814G>A (p.Arg605His)	LBR (R605H)	Single nucleotide variant (missense variant)	Greenberg dysplasia	GUncertain significance
Select item 1949977	NM_002296.4(LBR):c.1813C>T (p.Arg605Cys)	LBR (R605C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941225	NM_002296.4(LBR):c.1804T>C (p.Tyr602His)	LBR (Y602H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 876042	NM_002296.4(LBR):c.1793C>T (p.Ala598Val)	LBR (A598V)	Single nucleotide variant (missense variant)	Greenberg dysplasia	GUncertain significance
Select item 2137818	NM_002296.4(LBR):c.1789G>C (p.Val597Leu)	LBR (V597L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3043051	NM_002296.4(LBR):c.1788C>A (p.Gly596=)	LBR	Single nucleotide variant (synonymous variant)	LBR-related condition	GLikely benign
Select item 1913605	NM_002296.4(LBR):c.1788C>T (p.Gly596=)	LBR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950208	NM_002296.4(LBR):c.1786G>A (p.Gly596Ser)	LBR (G596S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 751688	NM_002296.4(LBR):c.1785C>T (p.Tyr595=)	LBR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697518	NM_002296.4(LBR):c.1778A>G (p.Lys593Arg)	LBR (K593R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2230146	NM_002296.4(LBR):c.1772G>A (p.Cys591Tyr)	LBR (C591Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675266	NM_002296.4(LBR):c.1761C>T (p.Asp587=)	LBR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 545626	NM_002296.4(LBR):c.1757G>A (p.Arg586His)	LBR (R586H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1320971	NM_002296.4(LBR):c.1756C>T (p.Arg586Cys)	LBR (R586C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 419545	NM_002296.4(LBR):c.1748G>T (p.Arg583Leu)	LBR (R583L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 100901	NM_002296.4(LBR):c.1748G>A (p.Arg583Gln)	LBR (R583Q)	Single nucleotide variant (missense variant)	Greenberg dysplasia	GPathogenic
Select item 369680	NM_002296.4(LBR):c.1747C>T (p.Arg583Ter)	LBR (R583*)	Single nucleotide variant (nonsense)	Pelger-Huët anomaly +6 more	GConflicting classifications of pathogenicity
Select item 1390897	NM_002296.4(LBR):c.1741_1742del (p.Val581fs)	LBR (V581fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1046512	NM_002296.4(LBR):c.1717A>G (p.Ile573Val)	LBR (I573V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764655	NM_002296.4(LBR):c.1708T>C (p.Tyr570His)	LBR (Y570H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 9532	NM_002296.4(LBR):c.1706C>G (p.Pro569Arg)	LBR (P569R)	Single nucleotide variant (missense variant)	Pelger-Huët anomaly	GPathogenic
Select item 1345440	NM_002296.4(LBR):c.1705C>T (p.Pro569Ser)	LBR (P569S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503798	NM_002296.4(LBR):c.1696C>T (p.His566Tyr)	LBR (H566Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1232728	NM_002296.4(LBR):c.1688-270A>G	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290377	NM_002296.4(LBR):c.1687+213C>A	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253134	NM_002296.4(LBR):c.1687+111G>A	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214988	NM_002296.4(LBR):c.1687+94G>A	LBR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981945	NM_002296.4(LBR):c.1687+7A>G	LBR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1491963	NM_002296.4(LBR):c.1684T>A (p.Cys562Ser)	LBR (C562S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1110671	NM_002296.4(LBR):c.1683A>T (p.Pro561=)	LBR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370940	NM_002296.4(LBR):c.1681C>G (p.Pro561Ala)	LBR (P561A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816518	NM_002296.4(LBR):c.1678C>T (p.Leu560Phe)	LBR (L560F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373432	NM_002296.4(LBR):c.1672T>C (p.Trp558Arg)	LBR (W558R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733393	NM_002296.4(LBR):c.1671G>A (p.Ala557=)	LBR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 295930	NM_002296.4(LBR):c.1670C>T (p.Ala557Val)	LBR (A557V)	Single nucleotide variant (missense variant)	Greenberg dysplasia +1 more	GUncertain significance
Select item 2002432	NM_002296.4(LBR):c.1668G>C (p.Leu556Phe)	LBR (L556F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960405	NM_002296.4(LBR):c.1661T>C (p.Met554Thr)	LBR (M554T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589664	NM_002296.4(LBR):c.1650T>A (p.Gly550=)	LBR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224875	NM_002296.4(LBR):c.1640A>G (p.Asn547Ser)	LBR (N547S)	Single nucleotide variant (missense variant)	LBR-related condition +4 more	GConflicting classifications of pathogenicity
Select item 100900	NM_002296.4(LBR):c.1639A>G (p.Asn547Asp)	LBR (N547D)	Single nucleotide variant (missense variant)	Pelger-Huët anomaly +1 more	GPathogenic/Likely pathogenic
Select item 1903009	NM_002296.4(LBR):c.1631G>A (p.Arg544His)	LBR (R544H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955186	NM_002296.4(LBR):c.1630C>T (p.Arg544Cys)	LBR (R544C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955175	NM_002296.4(LBR):c.1623C>T (p.Gly541=)	LBR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938796	NM_002296.4(LBR):c.1612G>A (p.Gly538Arg)	LBR (G538R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 235704	NM_002296.4(LBR):c.1609T>G (p.Ser537Ala)	LBR (S537A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 9529	NM_002296.4(LBR):c.1599_1605delinsCTAGAAG (p.Leu534_Leu535delinsTer)	LBR	Indel (nonsense)	Greenberg dysplasia +1 more	GPathogenic
Select item 1440005	NM_002296.4(LBR):c.1603C>G (p.Leu535Val)	LBR (L535V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781005	NM_002296.4(LBR):c.1600C>A (p.Leu534Ile)	LBR (L534I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 295931	NM_002296.4(LBR):c.1590G>A (p.Thr530=)	LBR	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance
Select item 1510242	NM_002296.4(LBR):c.1589C>T (p.Thr530Met)	LBR (T530M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005424	NM_002296.4(LBR):c.1588A>G (p.Thr530Ala)	LBR (T530A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1572040	NM_002296.4(LBR):c.1565-4A>G	LBR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 9527	NM_002296.4(LBR):c.1565-10_1565-5del	LBR	Microsatellite (intron variant)	RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY +1 more	GPathogenic
Select item 1987102	NM_002296.4(LBR):c.1565-18A>C	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2180967	NM_002296.4(LBR):c.1564C>T (p.His522Tyr)	LBR (H522Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026793	NM_002296.4(LBR):c.1563A>G (p.Ala521=)	LBR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 876044	NM_002296.4(LBR):c.1561G>A (p.Ala521Thr)	LBR (A521T)	Single nucleotide variant (missense variant)	Greenberg dysplasia +1 more	GUncertain significance
Select item 876043	NM_002296.4(LBR):c.1561G>T (p.Ala521Ser)	LBR (A521S)	Single nucleotide variant (missense variant)	Greenberg dysplasia +2 more	GUncertain significance
Select item 1562355	NM_002296.4(LBR):c.1557G>A (p.Lys519=)	LBR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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