6696[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 878832	NM_002334.4(LRP4):c.*2252G>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GBenign
Select item 304824	NM_002334.4(LRP4):c.*2212C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304825	NM_002334.4(LRP4):c.*2104C>G	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GLikely benign
Select item 304826	NM_002334.4(LRP4):c.*2082dup	LRP4, LRP4-AS1	Duplication (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 878834	NM_002334.4(LRP4):c.*2080T>C	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GBenign
Select item 879413	NM_002334.4(LRP4):c.*2054C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GLikely benign
Select item 304827	NM_002334.4(LRP4):c.1825_1826del	LRP4, LRP4-AS1	Deletion (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GLikely benign
Select item 304828	NM_002334.4(LRP4):c.*1727G>A	LRP4-AS1, LRP4	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304829	NM_002334.4(LRP4):c.*1662C>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 879414	NM_002334.4(LRP4):c.*1627A>G	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GBenign
Select item 304830	NM_002334.4(LRP4):c.*1586T>G	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 879415	NM_002334.4(LRP4):c.*1546C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 879416	NM_002334.4(LRP4):c.*1467C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 879793	NM_002334.4(LRP4):c.*1445A>G	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GBenign
Select item 879794	NM_002334.4(LRP4):c.*1335G>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304831	NM_002334.4(LRP4):c.*1334dup	LRP4, LRP4-AS1	Duplication (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 879795	NM_002334.4(LRP4):c.*1322G>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 879796	NM_002334.4(LRP4):c.*1273G>C	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 879797	NM_002334.4(LRP4):c.*1151C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GBenign
Select item 304832	NM_002334.4(LRP4):c.*1064C>G	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304833	NM_002334.4(LRP4):c.*1017C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GBenign
Select item 304834	NM_002334.4(LRP4):c.*929C>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GLikely benign
Select item 877852	NM_002334.4(LRP4):c.*921A>C	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304835	NM_002334.4(LRP4):c.*780C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304836	NM_002334.4(LRP4):c.*734C>G	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304837	NM_002334.4(LRP4):c.*666del	LRP4, LRP4-AS1	Deletion (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 877853	NM_002334.4(LRP4):c.*665G>C	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 877854	NM_002334.4(LRP4):c.*609A>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304838	NM_002334.4(LRP4):c.*561T>C	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GBenign
Select item 878012	NM_002334.4(LRP4):c.*415C>G	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 878013	NM_002334.4(LRP4):c.*379C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304839	NM_002334.4(LRP4):c.*372G>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 878014	NM_002334.4(LRP4):c.*363C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 878015	NM_002334.4(LRP4):c.*329T>C	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304840	NM_002334.4(LRP4):c.*305C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304841	NM_002334.4(LRP4):c.*261C>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 878016	NM_002334.4(LRP4):c.*242G>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304842	NM_002334.4(LRP4):c.*104C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 878833	NM_002334.4(LRP4):c.*54G>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome +1 more	GBenign/Likely benign
Select item 304843	NM_002334.4(LRP4):c.*44T>C	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 1666167	NM_002334.4(LRP4):c.5715C>G (p.Val1905=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 1987762	NM_002334.4(LRP4):c.5698T>C (p.Ser1900Pro)	LRP4, LRP4-AS1 (S1900P)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 2933365	NM_002334.4(LRP4):c.5678_5682del (p.Trp1893fs)	LRP4, LRP4-AS1 (W1893fs)	Deletion (frameshift variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 3029287	NM_002334.4(LRP4):c.5673G>A (p.Thr1891=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	LRP4-related disorder	GLikely benign
Select item 304844	NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met)	LRP4, LRP4-AS1 (T1891M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 659389	NM_002334.4(LRP4):c.5669A>G (p.Asp1890Gly)	LRP4, LRP4-AS1 (D1890G)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 1307416	NM_002334.4(LRP4):c.5662_5663del (p.Leu1888fs)	LRP4, LRP4-AS1 (L1888fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 282957	NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)	LRP4, LRP4-AS1 (S1887C)	Single nucleotide variant (missense variant)	LRP4-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1497314	NM_002334.4(LRP4):c.5654G>A (p.Arg1885Gln)	LRP4, LRP4-AS1 (R1885Q)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1331494	NM_002334.4(LRP4):c.5653C>T (p.Arg1885Ter)	LRP4, LRP4-AS1 (R1885*)	Single nucleotide variant (nonsense)	not specified +3 more	GUncertain significance
Select item 304845	NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly)	LRP4, LRP4-AS1 (R1884G)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1428162	NM_002334.4(LRP4):c.5633C>T (p.Thr1878Ile)	LRP4, LRP4-AS1 (T1878I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 839461	NM_002334.4(LRP4):c.5626G>A (p.Val1876Ile)	LRP4, LRP4-AS1 (V1876I)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 3034115	NM_002334.4(LRP4):c.5625C>T (p.Ser1875=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	LRP4-related disorder	GLikely benign
Select item 1024631	NM_002334.4(LRP4):c.5618G>A (p.Cys1873Tyr)	LRP4, LRP4-AS1 (C1873Y)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1931033	NM_002334.4(LRP4):c.5613T>C (p.Ser1871=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2950603	NM_002334.4(LRP4):c.5610G>A (p.Gln1870=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2102876	NM_002334.4(LRP4):c.5608C>T (p.Gln1870Ter)	LRP4, LRP4-AS1 (Q1870*)	Single nucleotide variant (nonsense)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2094081	NM_002334.4(LRP4):c.5607G>C (p.Glu1869Asp)	LRP4, LRP4-AS1 (E1869D)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1359342	NM_002334.4(LRP4):c.5607G>A (p.Glu1869=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 1604058	NM_002334.4(LRP4):c.5586G>A (p.Thr1862=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 1501503	NM_002334.4(LRP4):c.5585C>T (p.Thr1862Met)	LRP4, LRP4-AS1 (T1862M)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1713599	NM_002334.4(LRP4):c.5577C>G (p.Asp1859Glu)	LRP4, LRP4-AS1 (D1859E)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1089462	NM_002334.4(LRP4):c.5574T>C (p.Asp1858=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 943607	NM_002334.4(LRP4):c.5558G>A (p.Ser1853Asn)	LRP4, LRP4-AS1 (S1853N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 535809	NM_002334.4(LRP4):c.5556C>T (p.Ala1852=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 1915767	NM_002334.4(LRP4):c.5550C>T (p.Ile1850=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2935028	NM_002334.4(LRP4):c.5541G>T (p.Thr1847=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 835789	NM_002334.4(LRP4):c.5540C>T (p.Thr1847Met)	LRP4-AS1, LRP4 (T1847M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2084461	NM_002334.4(LRP4):c.5538C>T (p.Asp1846=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2149141	NM_002334.4(LRP4):c.5532G>A (p.Lys1844=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 1994818	NM_002334.4(LRP4):c.5524T>C (p.Cys1842Arg)	LRP4, LRP4-AS1 (C1842R)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 304846	NM_002334.4(LRP4):c.5520T>C (p.His1840=)	LRP4-AS1, LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2001258	NM_002334.4(LRP4):c.5513G>T (p.Arg1838Leu)	LRP4, LRP4-AS1 (R1838L)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 373466	NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln)	LRP4-AS1, LRP4 (R1838Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2155089	NM_002334.4(LRP4):c.5512C>T (p.Arg1838Trp)	LRP4, LRP4-AS1 (R1838W)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 2056369	NM_002334.4(LRP4):c.5510T>C (p.Leu1837Pro)	LRP4-AS1, LRP4 (L1837P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 2172388	NM_002334.4(LRP4):c.5508C>T (p.Leu1836=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	LRP4-related disorder +3 more	GLikely benign
Select item 2045820	NM_002334.4(LRP4):c.5507T>C (p.Leu1836Pro)	LRP4, LRP4-AS1 (L1836P)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 2163296	NM_002334.4(LRP4):c.5506C>T (p.Leu1836Phe)	LRP4, LRP4-AS1 (L1836F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 1467913	NM_002334.4(LRP4):c.5506C>G (p.Leu1836Val)	LRP4, LRP4-AS1 (L1836V)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2037831	NM_002334.4(LRP4):c.5505C>G (p.Gly1835=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 1809655	NM_002334.4(LRP4):c.5504dup (p.Leu1836fs)	LRP4, LRP4-AS1 (L1836fs)	Duplication (frameshift variant)	not provided +3 more	GUncertain significance
Select item 941443	NM_002334.4(LRP4):c.5500G>C (p.Gly1834Arg)	LRP4, LRP4-AS1 (G1834R)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1615274	NM_002334.4(LRP4):c.5499G>C (p.Arg1833=)	LRP4-AS1, LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2165758	NM_002334.4(LRP4):c.5498G>T (p.Arg1833Leu)	LRP4, LRP4-AS1 (R1833L)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1146289	NM_002334.4(LRP4):c.5493C>T (p.Ser1831=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 197030	NM_002334.4(LRP4):c.5489G>A (p.Arg1830Gln)	LRP4, LRP4-AS1 (R1830Q)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +3 more	GUncertain significance
Select item 3251192	NM_002334.4(LRP4):c.5465A>G (p.Glu1822Gly)	LRP4, LRP4-AS1 (E1822G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288233	NM_002334.4(LRP4):c.5456A>T (p.Asp1819Val)	LRP4, LRP4-AS1 (D1819V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2606664	NM_002334.4(LRP4):c.5441G>A (p.Cys1814Tyr)	LRP4, LRP4-AS1 (C1814Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1389663	NM_002334.4(LRP4):c.5441G>C (p.Cys1814Ser)	LRP4-AS1, LRP4 (C1814S)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 1342614	NM_002334.4(LRP4):c.5438T>C (p.Ile1813Thr)	LRP4, LRP4-AS1 (I1813T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469424	NM_002334.4(LRP4):c.5428G>A (p.Val1810Ile)	LRP4, LRP4-AS1 (V1810I)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 651553	NM_002334.4(LRP4):c.5426T>A (p.Ile1809Asn)	LRP4, LRP4-AS1 (I1809N)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance

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