ClinVar for Gene (Select 100507401) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291436	NM_002334.4(LRP4):c.5315C>A (p.Ser1772Tyr)	LRP4, LRP4-AS1 (S1772Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291435	NM_002334.4(LRP4):c.4544G>A (p.Gly1515Asp)	LRP4, LRP4-AS1 (G1515D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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 3120301	NM_002334.4(LRP4):c.5390G>A (p.Gly1797Glu)	LRP4, LRP4-AS1 (G1797E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120300	NM_002334.4(LRP4):c.4739A>G (p.Gln1580Arg)	LRP4, LRP4-AS1 (Q1580R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120299	NM_002334.4(LRP4):c.4570T>C (p.Tyr1524His)	LRP4, LRP4-AS1 (Y1524H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050034	NM_002334.4(LRP4):c.5375A>G (p.Tyr1792Cys)	LRP4, LRP4-AS1 (Y1792C)	Single nucleotide variant (missense variant)	LRP4-related disorder	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 3033752	NM_002334.4(LRP4):c.4230-2A>T	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	LRP4-related disorder	GLikely pathogenic
Select item 3032217	NM_002334.4(LRP4):c.4231C>A (p.Arg1411=)	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	LRP4-related disorder	GLikely benign
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 2951982	NM_002334.4(LRP4):c.4320G>A (p.Arg1440=)	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2951327	NM_002334.4(LRP4):c.5307C>T (p.Tyr1769=)	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)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2950498	NM_002334.4(LRP4):c.4952-20C>A	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2950469	NM_002334.4(LRP4):c.4602G>A (p.Ala1534=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2950037	NM_002334.4(LRP4):c.4557C>A (p.Gly1519=)	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2948492	NM_002334.4(LRP4):c.4737C>A (p.Ile1579=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2945597	NM_002334.4(LRP4):c.4400dup (p.Asn1467fs)	LRP4, LRP4-AS1 (N1467fs)	Duplication (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome +2 more	GPathogenic
Select item 2945504	NM_002334.4(LRP4):c.5409C>T (p.Thr1803=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2943051	NM_002334.4(LRP4):c.4952-17T>C	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2941754	NM_002334.4(LRP4):c.4693-12C>T	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +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 2934828	NM_002334.4(LRP4):c.5244-6C>T	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2934367	NM_002334.4(LRP4):c.4693-12C>G	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
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 2929541	NM_002334.4(LRP4):c.5136C>T (p.Asp1712=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2926943	NM_002334.4(LRP4):c.5308C>A (p.Arg1770=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2923903	NM_002334.4(LRP4):c.4838-8G>A	LRP4-AS1, LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2923165	NM_002334.4(LRP4):c.5049C>T (p.Thr1683=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2922590	NM_002334.4(LRP4):c.4676C>T (p.Pro1559Leu)	LRP4, LRP4-AS1 (P1559L)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2922575	NM_002334.4(LRP4):c.4563C>T (p.Thr1521=)	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2922546	NM_002334.4(LRP4):c.5386-4C>G	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2689380	NM_002334.4(LRP4):c.4535C>G (p.Thr1512Arg)	LRP4, LRP4-AS1 (T1512R)	Single nucleotide variant (non-coding transcript variant +1 more)	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 2528669	NM_002334.4(LRP4):c.4340C>G (p.Thr1447Arg)	LRP4, LRP4-AS1 (T1447R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526476	NM_002334.4(LRP4):c.4774A>T (p.Thr1592Ser)	LRP4, LRP4-AS1 (T1592S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2421389	NM_002334.4(LRP4):c.5319A>G (p.Thr1773=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2227192	NM_002334.4(LRP4):c.5125C>T (p.Arg1709Cys)	LRP4, LRP4-AS1 (R1709C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190594	NM_002334.4(LRP4):c.4230-12G>A	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2175228	NM_002334.4(LRP4):c.5109G>T (p.Arg1703Ser)	LRP4, LRP4-AS1 (R1703S)	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)	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)	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)	Sclerosteosis 2 +2 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 2153605	NM_002334.4(LRP4):c.4952-10T>C	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2149141	NM_002334.4(LRP4):c.5532G>A (p.Lys1844=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2145506	NM_002334.4(LRP4):c.4485G>A (p.Lys1495=)	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2143049	NM_002334.4(LRP4):c.4513G>C (p.Glu1505Gln)	LRP4, LRP4-AS1 (E1505Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2117587	NM_002334.4(LRP4):c.5087+12C>T	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2102876	NM_002334.4(LRP4):c.5608C>T (p.Gln1870Ter)	LRP4, LRP4-AS1 (Q1870*)	Single nucleotide variant (nonsense)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 2097093	NM_002334.4(LRP4):c.5283C>A (p.Asn1761Lys)	LRP4, LRP4-AS1 (N1761K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +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 2092135	NM_002334.4(LRP4):c.4577C>T (p.Thr1526Ile)	LRP4, LRP4-AS1 (T1526I)	Single nucleotide variant (non-coding transcript variant +1 more)	Sclerosteosis 2 +2 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 2069911	NM_002334.4(LRP4):c.5265T>G (p.Thr1755=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2066631	NM_002334.4(LRP4):c.5088-6C>T	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2062110	NM_002334.4(LRP4):c.5087+13A>G	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2059955	NM_002334.4(LRP4):c.5402A>G (p.Asn1801Ser)	LRP4, LRP4-AS1 (N1801S)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2056369	NM_002334.4(LRP4):c.5510T>C (p.Leu1837Pro)	LRP4, LRP4-AS1 (L1837P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 2055935	NM_002334.4(LRP4):c.4346G>A (p.Arg1449Gln)	LRP4, LRP4-AS1 (R1449Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 2051385	NM_002334.4(LRP4):c.5357T>C (p.Met1786Thr)	LRP4, LRP4-AS1 (M1786T)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2045820	NM_002334.4(LRP4):c.5507T>C (p.Leu1836Pro)	LRP4, LRP4-AS1 (L1836P)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2042331	NM_002334.4(LRP4):c.4612C>T (p.Arg1538Trp)	LRP4, LRP4-AS1 (R1538W)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2039231	NM_002334.4(LRP4):c.5155+16C>T	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Sclerosteosis 2 +2 more	GLikely benign
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 2020572	NM_002334.4(LRP4):c.5386-12T>C	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2003851	NM_002334.4(LRP4):c.4661G>A (p.Ser1554Asn)	LRP4, LRP4-AS1 (S1554N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 2001258	NM_002334.4(LRP4):c.5513G>T (p.Arg1838Leu)	LRP4, LRP4-AS1 (R1838L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 2000449	NM_002334.4(LRP4):c.5113G>A (p.Gly1705Ser)	LRP4, LRP4-AS1 (G1705S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 1994933	NM_002334.4(LRP4):c.4934G>A (p.Ser1645Asn)	LRP4, LRP4-AS1 (S1645N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 1994818	NM_002334.4(LRP4):c.5524T>C (p.Cys1842Arg)	LRP4, LRP4-AS1 (C1842R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 1994719	NM_002334.4(LRP4):c.4949T>G (p.Leu1650Arg)	LRP4, LRP4-AS1 (L1650R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 1989402	NM_002334.4(LRP4):c.5155+20C>G	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 17 +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)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1984981	NM_002334.4(LRP4):c.5168A>G (p.His1723Arg)	LRP4, LRP4-AS1 (H1723R)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 1979929	NM_002334.4(LRP4):c.4422G>A (p.Arg1474=)	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Sclerosteosis 2 +2 more	GLikely benign
Select item 1972720	NM_002334.4(LRP4):c.4759G>T (p.Gly1587Cys)	LRP4, LRP4-AS1 (G1587C)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 1931454	NM_002334.4(LRP4):c.5156-11A>G	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 1931033	NM_002334.4(LRP4):c.5613T>C (p.Ser1871=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 1929641	NM_002334.4(LRP4):c.4397T>C (p.Ile1466Thr)	LRP4, LRP4-AS1 (I1466T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1915767	NM_002334.4(LRP4):c.5550C>T (p.Ile1850=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 1907770	NM_002334.4(LRP4):c.5110C>T (p.Leu1704=)	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-AS1, LRP4 (L1836fs)	Duplication (frameshift variant)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 1713599	NM_002334.4(LRP4):c.5577C>G (p.Asp1859Glu)	LRP4, LRP4-AS1 (D1859E)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 1673273	NM_002334.4(LRP4):c.4693-16T>C	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 1666167	NM_002334.4(LRP4):c.5715C>G (p.Val1905=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 1650654	NM_002334.4(LRP4):c.5385+13A>G	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 1649726	NM_002334.4(LRP4):c.5370G>A (p.Leu1790=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 1638178	NM_002334.4(LRP4):c.5088-20C>T	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 1636305	NM_002334.4(LRP4):c.5016C>A (p.Pro1672=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 1626435	NM_002334.4(LRP4):c.5118C>T (p.Leu1706=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 1622184	NM_002334.4(LRP4):c.4584-14_4584-10del	LRP4, LRP4-AS1	Deletion (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 1621767	NM_002334.4(LRP4):c.4584-16_4584-15del	LRP4, LRP4-AS1	Deletion (intron variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 1621726	NM_002334.4(LRP4):c.4501T>C (p.Leu1501=)	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Sclerosteosis 2 +2 more	GLikely benign
Select item 1615274	NM_002334.4(LRP4):c.5499G>C (p.Arg1833=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 1610059	NM_002334.4(LRP4):c.5156-15C>A	LRP4-AS1, LRP4	Single nucleotide variant (intron 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)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 1601185	NM_002334.4(LRP4):c.4951+13G>C	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1592468	NM_002334.4(LRP4):c.5424G>A (p.Lys1808=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign

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