PLXNA2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 150129	GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1	C1orf74, CAMK1G +97 more	Copy number loss	See cases	GPathogenic
Select item 1362866	NM_025179.4(PLXNA2):c.5675T>C (p.Ile1892Thr)	PLXNA2 (I1892T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3345963	NM_025179.4(PLXNA2):c.5637_5657del (p.Ala1880_Leu1886del)	PLXNA2	Deletion (inframe_deletion)	PLXNA2-related disorder	GUncertain significance
Select item 3039111	NM_025179.4(PLXNA2):c.5633G>A (p.Arg1878Gln)	PLXNA2 (R1878Q)	Single nucleotide variant (missense variant)	PLXNA2-related disorder	GUncertain significance
Select item 3021177	NM_025179.4(PLXNA2):c.5632C>T (p.Arg1878Trp)	PLXNA2 (R1878W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722071	NM_025179.4(PLXNA2):c.5627G>A (p.Arg1876Gln)	PLXNA2 (R1876Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636031	NM_025179.4(PLXNA2):c.5624G>A (p.Arg1875Gln)	PLXNA2 (R1875Q)	Single nucleotide variant (missense variant)	PLXNA2-related disorder	GUncertain significance
Select item 1475341	NM_025179.4(PLXNA2):c.5618A>T (p.Gln1873Leu)	PLXNA2 (Q1873L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978677	NM_025179.4(PLXNA2):c.5614G>A (p.Glu1872Lys)	PLXNA2 (E1872K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2539698	NM_025179.4(PLXNA2):c.5611G>C (p.Asp1871His)	PLXNA2 (D1871H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2712708	NM_025179.4(PLXNA2):c.5598G>C (p.Gly1866=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496933	NM_025179.4(PLXNA2):c.5596G>A (p.Gly1866Arg)	PLXNA2 (G1866R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970533	NM_025179.4(PLXNA2):c.5590-6C>T	PLXNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668902	NM_025179.4(PLXNA2):c.5590-9G>A	PLXNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649900	NM_025179.4(PLXNA2):c.5589+13C>A	PLXNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3353826	NM_025179.4(PLXNA2):c.5589+10G>A	PLXNA2	Single nucleotide variant (intron variant)	PLXNA2-related disorder	GLikely benign
Select item 3030257	NM_025179.4(PLXNA2):c.5589+3G>A	PLXNA2	Single nucleotide variant (intron variant)	PLXNA2-related disorder	GLikely benign
Select item 2175547	NM_025179.4(PLXNA2):c.5552A>G (p.Asn1851Ser)	PLXNA2 (N1851S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744690	NM_025179.4(PLXNA2):c.5539C>T (p.Leu1847=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045994	NM_025179.4(PLXNA2):c.5534A>C (p.Asn1845Thr)	PLXNA2 (N1845T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052739	NM_025179.4(PLXNA2):c.5524G>A (p.Val1842Met)	PLXNA2 (V1842M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2896040	NM_025179.4(PLXNA2):c.5521G>A (p.Ala1841Thr)	PLXNA2 (A1841T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067967	NM_025179.4(PLXNA2):c.5520C>T (p.His1840=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917052	NM_025179.4(PLXNA2):c.5512C>T (p.Arg1838Cys)	PLXNA2 (R1838C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3056490	NM_025179.4(PLXNA2):c.5504A>G (p.Glu1835Gly)	PLXNA2 (E1835G)	Single nucleotide variant (missense variant)	PLXNA2-related disorder	GUncertain significance
Select item 3031513	NM_025179.4(PLXNA2):c.5502C>T (p.Ala1834=)	PLXNA2	Single nucleotide variant (synonymous variant)	PLXNA2-related disorder	GLikely benign
Select item 3046753	NM_025179.4(PLXNA2):c.5500G>A (p.Ala1834Thr)	PLXNA2 (A1834T)	Single nucleotide variant (missense variant)	PLXNA2-related disorder	GUncertain significance
Select item 3357295	NM_025179.4(PLXNA2):c.5472C>T (p.Ile1824=)	PLXNA2	Single nucleotide variant (synonymous variant)	PLXNA2-related disorder	GLikely benign
Select item 2972814	NM_025179.4(PLXNA2):c.5455G>A (p.Ala1819Thr)	PLXNA2 (A1819T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726532	NM_025179.4(PLXNA2):c.5446G>A (p.Ala1816Thr)	PLXNA2 (A1816T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1592882	NM_025179.4(PLXNA2):c.5445C>T (p.Tyr1815=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915394	NM_025179.4(PLXNA2):c.5439-20G>A	PLXNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1470500	NM_025179.4(PLXNA2):c.5438+4A>G	PLXNA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3356844	NM_025179.4(PLXNA2):c.5436G>T (p.Glu1812Asp)	PLXNA2 (E1812D)	Single nucleotide variant (missense variant)	PLXNA2-related disorder	GUncertain significance
Select item 2038755	NM_025179.4(PLXNA2):c.5376C>T (p.Asp1792=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668154	NM_025179.4(PLXNA2):c.5367G>A (p.Leu1789=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744619	NM_025179.4(PLXNA2):c.5364G>T (p.Arg1788=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3354253	NM_025179.4(PLXNA2):c.5356G>A (p.Glu1786Lys)	PLXNA2 (E1786K)	Single nucleotide variant (missense variant)	PLXNA2-related disorder	GUncertain significance
Select item 3354456	NM_025179.4(PLXNA2):c.5352G>A (p.Thr1784=)	PLXNA2	Single nucleotide variant (synonymous variant)	PLXNA2-related disorder	GLikely benign
Select item 3352312	NM_025179.4(PLXNA2):c.5351C>T (p.Thr1784Met)	PLXNA2 (T1784M)	Single nucleotide variant (missense variant)	PLXNA2-related disorder	GUncertain significance
Select item 787579	NM_025179.4(PLXNA2):c.5334C>T (p.Phe1778=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2785445	NM_025179.4(PLXNA2):c.5330C>T (p.Thr1777Ile)	PLXNA2 (T1777I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356959	NM_025179.4(PLXNA2):c.5310C>T (p.Cys1770=)	PLXNA2	Single nucleotide variant (synonymous variant)	PLXNA2-related disorder	GLikely benign
Select item 3345010	NM_025179.4(PLXNA2):c.5309G>C (p.Cys1770Ser)	PLXNA2 (C1770S)	Single nucleotide variant (missense variant)	PLXNA2-related disorder	GUncertain significance
Select item 2320795	NM_025179.4(PLXNA2):c.5306C>A (p.Ala1769Asp)	PLXNA2 (A1769D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2903464	NM_025179.4(PLXNA2):c.5305G>A (p.Ala1769Thr)	PLXNA2 (A1769T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1660016	NM_025179.4(PLXNA2):c.5304C>T (p.Asp1768=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3355901	NM_025179.4(PLXNA2):c.5301G>T (p.Thr1767=)	PLXNA2	Single nucleotide variant (synonymous variant)	PLXNA2-related disorder	GLikely benign
Select item 3057535	NM_025179.4(PLXNA2):c.5301G>A (p.Thr1767=)	PLXNA2	Single nucleotide variant (synonymous variant)	PLXNA2-related disorder	GLikely benign
Select item 3357910	NM_025179.4(PLXNA2):c.5300C>T (p.Thr1767Met)	PLXNA2 (T1767M)	Single nucleotide variant (missense variant)	PLXNA2-related disorder	GUncertain significance
Select item 3054467	NM_025179.4(PLXNA2):c.5271C>T (p.Phe1757=)	PLXNA2	Single nucleotide variant (synonymous variant)	PLXNA2-related disorder	GLikely benign
Select item 1355413	NM_025179.4(PLXNA2):c.5251G>A (p.Val1751Met)	PLXNA2 (V1751M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351814	NM_025179.4(PLXNA2):c.5250C>T (p.Asn1750=)	PLXNA2	Single nucleotide variant (synonymous variant)	PLXNA2-related disorder	GLikely benign
Select item 1979170	NM_025179.4(PLXNA2):c.5243G>T (p.Trp1748Leu)	PLXNA2 (W1748L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652016	NM_025179.4(PLXNA2):c.5229C>A (p.Leu1743=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3356828	NM_025179.4(PLXNA2):c.5226-3C>T	PLXNA2	Single nucleotide variant (intron variant)	PLXNA2-related disorder	GLikely benign
Select item 3348167	NM_025179.4(PLXNA2):c.5226-3C>G	PLXNA2	Single nucleotide variant (intron variant)	PLXNA2-related disorder	GUncertain significance
Select item 1629880	NM_025179.4(PLXNA2):c.5226-18_5226-16del	PLXNA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1168678	NM_025179.4(PLXNA2):c.5225+16G>T	PLXNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3048166	NM_025179.4(PLXNA2):c.5225+10C>G	PLXNA2	Single nucleotide variant (intron variant)	PLXNA2-related disorder	GLikely benign
Select item 722515	NM_025179.4(PLXNA2):c.5225+10C>T	PLXNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2026100	NM_025179.4(PLXNA2):c.5205G>A (p.Arg1735=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634366	NM_025179.4(PLXNA2):c.5204G>A (p.Arg1735Gln)	PLXNA2 (R1735Q)	Single nucleotide variant (missense variant)	PLXNA2-related disorder	GUncertain significance
Select item 1951797	NM_025179.4(PLXNA2):c.5190T>C (p.His1730=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3350579	NM_025179.4(PLXNA2):c.5183G>A (p.Ser1728Asn)	PLXNA2 (S1728N)	Single nucleotide variant (missense variant)	PLXNA2-related disorder	GUncertain significance
Select item 1354499	NM_025179.4(PLXNA2):c.5179C>A (p.His1727Asn)	PLXNA2 (H1727N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3036724	NM_025179.4(PLXNA2):c.5175C>T (p.Asp1725=)	PLXNA2	Single nucleotide variant (synonymous variant)	PLXNA2-related disorder	GLikely benign
Select item 2716546	NM_025179.4(PLXNA2):c.5171C>T (p.Ala1724Val)	PLXNA2 (A1724V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718896	NM_025179.4(PLXNA2):c.5160A>G (p.Leu1720=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3046191	NM_025179.4(PLXNA2):c.5145C>T (p.Tyr1715=)	PLXNA2	Single nucleotide variant (synonymous variant)	PLXNA2-related disorder	GLikely benign
Select item 2637341	NM_025179.4(PLXNA2):c.5137A>G (p.Ile1713Val)	PLXNA2 (I1713V)	Single nucleotide variant (missense variant)	PLXNA2-related disorder	GUncertain significance
Select item 1926712	NM_025179.4(PLXNA2):c.5131C>T (p.Leu1711=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3049589	NM_025179.4(PLXNA2):c.5121C>T (p.Ser1707=)	PLXNA2	Single nucleotide variant (synonymous variant)	PLXNA2-related disorder	GLikely benign
Select item 1930439	NM_025179.4(PLXNA2):c.5113C>T (p.Arg1705Trp)	PLXNA2 (R1705W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353369	NM_025179.4(PLXNA2):c.5106T>G (p.Thr1702=)	PLXNA2	Single nucleotide variant (synonymous variant)	PLXNA2-related disorder	GLikely benign
Select item 3009866	NM_025179.4(PLXNA2):c.5106T>C (p.Thr1702=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937890	NM_025179.4(PLXNA2):c.5094C>A (p.Thr1698=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3215545	NM_025179.4(PLXNA2):c.5080G>A (p.Asp1694Asn)	PLXNA2 (D1694N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2858236	NM_025179.4(PLXNA2):c.5079C>T (p.Asp1693=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528670	NM_025179.4(PLXNA2):c.5056-10C>T	PLXNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1579000	NM_025179.4(PLXNA2):c.5056-11C>A	PLXNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1963547	NM_025179.4(PLXNA2):c.5056-12C>T	PLXNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916602	NM_025179.4(PLXNA2):c.5056-14del	PLXNA2	Deletion (intron variant)	not provided	GBenign
Select item 1138913	NM_025179.4(PLXNA2):c.5056-17C>G	PLXNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3349907	NM_025179.4(PLXNA2):c.5055+4A>T	PLXNA2	Single nucleotide variant (intron variant)	PLXNA2-related disorder	GLikely benign
Select item 1920542	NM_025179.4(PLXNA2):c.5051C>G (p.Thr1684Ser)	PLXNA2 (T1684S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788052	NM_025179.4(PLXNA2):c.5040G>A (p.Arg1680=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3345589	NM_025179.4(PLXNA2):c.5023G>A (p.Glu1675Lys)	PLXNA2 (E1675K)	Single nucleotide variant (missense variant)	PLXNA2-related disorder	GUncertain significance
Select item 3354214	NM_025179.4(PLXNA2):c.5022C>T (p.Ser1674=)	PLXNA2	Single nucleotide variant (synonymous variant)	PLXNA2-related disorder	GLikely benign
Select item 3351534	NM_025179.4(PLXNA2):c.5005G>A (p.Gly1669Ser)	PLXNA2 (G1669S)	Single nucleotide variant (missense variant)	PLXNA2-related disorder	GUncertain significance
Select item 2169490	NM_025179.4(PLXNA2):c.5003G>A (p.Arg1668Gln)	PLXNA2 (R1668Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1671236	NM_025179.4(PLXNA2):c.4986C>T (p.Asp1662=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3036493	NM_025179.4(PLXNA2):c.4981G>A (p.Gly1661Ser)	PLXNA2 (G1661S)	Single nucleotide variant (missense variant)	PLXNA2-related disorder	GUncertain significance
Select item 2166907	NM_025179.4(PLXNA2):c.4980C>T (p.His1660=)	PLXNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976610	NM_025179.4(PLXNA2):c.4964T>C (p.Val1655Ala)	PLXNA2 (V1655A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710794	NM_025179.4(PLXNA2):c.4951G>A (p.Val1651Met)	PLXNA2 (V1651M)	Single nucleotide variant (missense variant)	not provided	GBenign

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