PLXND1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 2279806	NM_015103.3(PLXND1):c.5767A>G (p.Ser1923Gly)	PLXND1 (S1923G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059889	NM_015103.3(PLXND1):c.5727G>A (p.Gln1909=)	PLXND1	Single nucleotide variant (synonymous variant)	PLXND1-related disorder	GBenign
Select item 719076	NM_015103.3(PLXND1):c.5671G>A (p.Ala1891Thr)	PLXND1 (A1891T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3050325	NM_015103.3(PLXND1):c.5646G>A (p.Lys1882=)	PLXND1	Single nucleotide variant (synonymous variant)	PLXND1-related disorder	GLikely benign
Select item 2205479	NM_015103.3(PLXND1):c.5641G>A (p.Ala1881Thr)	PLXND1 (A1881T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033777	NM_015103.3(PLXND1):c.5640C>T (p.Tyr1880=)	PLXND1	Single nucleotide variant (synonymous variant)	PLXND1-related disorder	GLikely benign
Select item 1810414	NM_015103.3(PLXND1):c.5629A>G (p.Ile1877Val)	PLXND1 (I1877V)	Single nucleotide variant (missense variant)	Kleine-Levin syndrome	GUncertain significance
Select item 2411009	NM_015103.3(PLXND1):c.5550G>T (p.Glu1850Asp)	PLXND1 (E1850D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527111	NM_015103.3(PLXND1):c.5548G>A (p.Glu1850Lys)	PLXND1 (E1850K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607249	NM_015103.3(PLXND1):c.5497A>G (p.Lys1833Glu)	PLXND1 (K1833E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736030	NM_015103.3(PLXND1):c.5490G>A (p.Glu1830=)	PLXND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722559	NM_015103.3(PLXND1):c.5446-10CT[4]	PLXND1	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 3308009	NM_015103.3(PLXND1):c.5351A>G (p.Asp1784Gly)	LOC112872301, PLXND1 (D1784G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445604	NM_015103.3(PLXND1):c.5323A>T (p.Ile1775Phe)	LOC112872301, PLXND1 (I1775F)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 9	GPathogenic
Select item 2277921	NM_015103.3(PLXND1):c.5323A>G (p.Ile1775Val)	LOC112872301, PLXND1 (I1775V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 765142	NM_015103.3(PLXND1):c.5256A>C (p.Gly1752=)	PLXND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727469	NM_015103.3(PLXND1):c.5133+8C>T	PLXND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736978	NM_015103.3(PLXND1):c.5133+7C>T	PLXND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 978156	NM_015103.3(PLXND1):c.5081A>G (p.His1694Arg)	PLXND1 (H1694R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2399087	NM_015103.3(PLXND1):c.5044G>C (p.Glu1682Gln)	PLXND1 (E1682Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747472	NM_015103.3(PLXND1):c.5043C>T (p.Asp1681=)	PLXND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3308007	NM_015103.3(PLXND1):c.5038A>G (p.Thr1680Ala)	PLXND1 (T1680A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708884	NM_015103.3(PLXND1):c.5032C>A (p.Leu1678Met)	PLXND1 (L1678M)	Single nucleotide variant (missense variant)	PLXND1-related disorder +1 more	GBenign
Select item 749605	NM_015103.3(PLXND1):c.5029-5C>G	PLXND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3060610	NM_015103.3(PLXND1):c.4994-4A>G	PLXND1	Single nucleotide variant (intron variant)	PLXND1-related disorder	GBenign
Select item 797358	NM_015103.3(PLXND1):c.4993+10G>A	PLXND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3308005	NM_015103.3(PLXND1):c.4991G>A (p.Arg1664Gln)	PLXND1 (R1664Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482017	NM_015103.3(PLXND1):c.4969A>G (p.Lys1657Glu)	PLXND1 (K1657E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049180	NM_015103.3(PLXND1):c.4954A>G (p.Met1652Val)	PLXND1 (M1652V)	Single nucleotide variant (missense variant)	PLXND1-related disorder	GLikely benign
Select item 3215763	NM_015103.3(PLXND1):c.4898G>A (p.Arg1633His)	PLXND1 (R1633H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215762	NM_015103.3(PLXND1):c.4885G>A (p.Val1629Met)	PLXND1 (V1629M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308008	NM_015103.3(PLXND1):c.4862G>A (p.Arg1621Gln)	PLXND1 (R1621Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686111	NM_015103.3(PLXND1):c.4826-4C>G	PLXND1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2324893	NM_015103.3(PLXND1):c.4821C>A (p.Asp1607Glu)	PLXND1 (D1607E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266697	NM_015103.3(PLXND1):c.4805G>T (p.Arg1602Leu)	PLXND1 (R1602L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730293	NM_015103.3(PLXND1):c.4803G>A (p.Pro1601=)	PLXND1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 720785	NM_015103.3(PLXND1):c.4797G>A (p.Gln1599=)	PLXND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3215761	NM_015103.3(PLXND1):c.4779G>C (p.Lys1593Asn)	PLXND1 (K1593N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1183583	NM_015103.3(PLXND1):c.4737G>A (p.Thr1579=)	PLXND1	Single nucleotide variant (synonymous variant)	PLXND1-related disorder +1 more	GBenign
Select item 738302	NM_015103.3(PLXND1):c.4731C>T (p.Thr1577=)	PLXND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3215760	NM_015103.3(PLXND1):c.4715T>C (p.Val1572Ala)	PLXND1 (V1572A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558320	NM_015103.3(PLXND1):c.4699A>G (p.Met1567Val)	PLXND1 (M1567V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636221	NM_015103.3(PLXND1):c.4682C>T (p.Ser1561Phe)	PLXND1 (S1561F)	Single nucleotide variant (missense variant)	PLXND1-related disorder	GUncertain significance
Select item 3215759	NM_015103.3(PLXND1):c.4667G>A (p.Arg1556Gln)	PLXND1 (R1556Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296226	NM_015103.3(PLXND1):c.4666C>T (p.Arg1556Trp)	PLXND1 (R1556W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729608	NM_015103.3(PLXND1):c.4653C>A (p.Ile1551=)	PLXND1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735126	NM_015103.3(PLXND1):c.4590C>T (p.Ile1530=)	PLXND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2217753	NM_015103.3(PLXND1):c.4575C>G (p.Ile1525Met)	PLXND1 (I1525M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251550	NM_015103.3(PLXND1):c.4536G>C (p.Glu1512Asp)	PLXND1 (E1512D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1175149	NM_015103.3(PLXND1):c.4526C>T (p.Thr1509Met)	PLXND1 (T1509M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672958	NM_015103.3(PLXND1):c.4466T>C (p.Val1489Ala)	PLXND1 (V1489A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2337212	NM_015103.3(PLXND1):c.4462T>C (p.Ser1488Pro)	PLXND1 (S1488P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750451	NM_015103.3(PLXND1):c.4422G>A (p.Ser1474=)	PLXND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2540146	NM_015103.3(PLXND1):c.4360G>A (p.Gly1454Ser)	PLXND1 (G1454S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745029	NM_015103.3(PLXND1):c.4344G>C (p.Leu1448=)	PLXND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3215758	NM_015103.3(PLXND1):c.4315C>T (p.Arg1439Cys)	PLXND1 (R1439C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044790	NM_015103.3(PLXND1):c.4311G>A (p.Ala1437=)	PLXND1	Single nucleotide variant (synonymous variant)	PLXND1-related disorder	GLikely benign
Select item 2411504	NM_015103.3(PLXND1):c.4310C>T (p.Ala1437Val)	PLXND1 (A1437V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241712	NM_015103.3(PLXND1):c.4244C>T (p.Ser1415Leu)	PLXND1 (S1415L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1230209	NM_015103.3(PLXND1):c.4234T>G (p.Leu1412Val)	PLXND1 (L1412V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3215756	NM_015103.3(PLXND1):c.4216A>G (p.Met1406Val)	PLXND1 (M1406V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555459	NM_015103.3(PLXND1):c.4207C>T (p.Arg1403Trp)	PLXND1 (R1403W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740511	NM_015103.3(PLXND1):c.4191+8C>A	PLXND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2556402	NM_015103.3(PLXND1):c.4114G>T (p.Val1372Leu)	PLXND1 (V1372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308003	NM_015103.3(PLXND1):c.4109G>A (p.Arg1370His)	PLXND1 (R1370H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736458	NM_015103.3(PLXND1):c.4086+9G>A	PLXND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2654127	NM_015103.3(PLXND1):c.4086+8C>T	PLXND1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3251026	NM_015103.3(PLXND1):c.4065G>A (p.Val1355=)	PLXND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3215755	NM_015103.3(PLXND1):c.4056G>C (p.Lys1352Asn)	PLXND1 (K1352N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059215	NM_015103.3(PLXND1):c.4008C>G (p.Leu1336=)	PLXND1	Single nucleotide variant (synonymous variant)	PLXND1-related disorder	GBenign
Select item 3060110	NM_015103.3(PLXND1):c.3973+10G>T	PLXND1	Single nucleotide variant (intron variant)	PLXND1-related disorder	GBenign
Select item 2445603	NM_015103.3(PLXND1):c.3895C>T (p.Arg1299Cys)	PLXND1	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 9	GPathogenic
Select item 3060694	NM_015103.3(PLXND1):c.3879C>T (p.Phe1293=)	PLXND1	Single nucleotide variant (synonymous variant)	PLXND1-related disorder	GBenign
Select item 2302464	NM_015103.3(PLXND1):c.3873C>G (p.Phe1291Leu)	PLXND1 (F1291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 754514	NM_015103.3(PLXND1):c.3873C>T (p.Phe1291=)	PLXND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784603	NM_015103.3(PLXND1):c.3866-4G>A	PLXND1	Single nucleotide variant (intron variant)	PLXND1-related disorder +1 more	GLikely benign
Select item 2222158	NM_015103.3(PLXND1):c.3862G>A (p.Val1288Met)	PLXND1 (V1288M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742278	NM_015103.3(PLXND1):c.3751-8C>G	PLXND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 750265	NM_015103.3(PLXND1):c.3744C>T (p.Pro1248=)	PLXND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2232622	NM_015103.3(PLXND1):c.3725C>T (p.Ala1242Val)	PLXND1 (A1242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269317	NM_015103.3(PLXND1):c.3724G>T (p.Ala1242Ser)	PLXND1 (A1242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215754	NM_015103.3(PLXND1):c.3714G>C (p.Glu1238Asp)	PLXND1 (E1238D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336931	NM_015103.3(PLXND1):c.3676del (p.Ile1226fs)	PLXND1 (I1226fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 723284	NM_015103.3(PLXND1):c.3641G>A (p.Arg1214Gln)	PLXND1 (R1214Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3056466	NM_015103.3(PLXND1):c.3627G>A (p.Gln1209=)	PLXND1	Single nucleotide variant (synonymous variant)	PLXND1-related disorder	GBenign
Select item 756152	NM_015103.3(PLXND1):c.3600+10A>G	PLXND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3215753	NM_015103.3(PLXND1):c.3587C>G (p.Thr1196Ser)	PLXND1 (T1196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719664	NM_015103.3(PLXND1):c.3579G>A (p.Glu1193=)	PLXND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779416	NM_015103.3(PLXND1):c.3505C>T (p.Arg1169Cys)	PLXND1 (R1169C)	Single nucleotide variant (missense variant)	PLXND1-related disorder +1 more	GBenign
Select item 3215752	NM_015103.3(PLXND1):c.3493G>A (p.Gly1165Ser)	PLXND1 (G1165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366459	NM_015103.3(PLXND1):c.3491G>A (p.Arg1164Gln)	PLXND1 (R1164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215751	NM_015103.3(PLXND1):c.3490C>T (p.Arg1164Trp)	PLXND1 (R1164W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598937	NM_015103.3(PLXND1):c.3478G>A (p.Glu1160Lys)	PLXND1 (E1160K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308010	NM_015103.3(PLXND1):c.3469C>G (p.Leu1157Val)	PLXND1 (L1157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050361	NM_015103.3(PLXND1):c.3453T>C (p.Ala1151=)	PLXND1	Single nucleotide variant (synonymous variant)	PLXND1-related disorder	GLikely benign
Select item 733952	NM_015103.3(PLXND1):c.3448G>T (p.Val1150Leu)	PLXND1 (V1150L)	Single nucleotide variant (missense variant)	PLXND1-related disorder +1 more	GBenign/Likely benign

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