6091[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 153529	GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1	C3orf38, CADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 155598	GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1	C3orf38, CADM2 +118 more	Copy number loss	See cases	GPathogenic
Select item 146400	GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1	C3orf38, CADM2 +89 more	Copy number loss	See cases	GLikely pathogenic
Select item 146213	GRCh38/hg38 3p12.3(chr3:78139492-78690548)x3	LOC126806728, LOC126806729 +1 more	Copy number gain	See cases	GLikely benign
Select item 57757	GRCh38/hg38 3p12.3(chr3:78221882-79465461)x3	LOC101927374, LOC110121119 +5 more	Copy number gain	See cases	GUncertain significance
Select item 3372158	NM_002941.4(ROBO1):c.4952G>A (p.Ser1651Asn)	ROBO1 (S1551N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808190	NM_002941.4(ROBO1):c.4950A>T (p.Glu1650Asp)	ROBO1 (E1650D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1641801	NM_002941.4(ROBO1):c.4942-13G>A	ROBO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543198	NM_002941.4(ROBO1):c.4941+11T>A	ROBO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1383848	NM_002941.4(ROBO1):c.4930GAA[3] (p.Glu1645dup)	ROBO1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3155595	NM_002941.4(ROBO1):c.4935A>T (p.Glu1645Asp)	ROBO1 (E1600D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373263	NM_002941.4(ROBO1):c.4911A>T (p.Glu1637Asp)	ROBO1 (E1637D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3372597	NM_002941.4(ROBO1):c.4861_4884del (p.Asn1621_Ala1628del)	ROBO1	Deletion	not provided	GUncertain significance
Select item 2964233	NM_002941.4(ROBO1):c.4873A>G (p.Arg1625Gly)	ROBO1 (R1525G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2477466	NM_002941.4(ROBO1):c.4846C>A (p.Gln1616Lys)	ROBO1 (Q1616K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1467019	NM_002941.4(ROBO1):c.4835C>T (p.Ser1612Leu)	ROBO1 (S1567L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049416	NM_002941.4(ROBO1):c.4827A>G (p.Ser1609=)	ROBO1	Single nucleotide variant (synonymous variant)	ROBO1-related disorder	GLikely benign
Select item 996101	NM_002941.4(ROBO1):c.4823C>G (p.Ser1608Ter)	ROBO1 (S1508* +2 more)	Single nucleotide variant (nonsense)	Bilateral renal agenesis	GLikely pathogenic
Select item 3155594	NM_002941.4(ROBO1):c.4819A>G (p.Met1607Val)	ROBO1 (M1507V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736441	NM_002941.4(ROBO1):c.4803C>T (p.Pro1601=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061944	NM_002941.4(ROBO1):c.4800T>G (p.Asp1600Glu)	ROBO1 (D1600E +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 995985	NM_002941.4(ROBO1):c.4786AAT[1] (p.Asn1597del)	ROBO1 (N1497del +2 more)	Microsatellite (inframe_deletion)	Heart, malformation of	GUncertain significance
Select item 3314986	NM_002941.4(ROBO1):c.4768C>G (p.Pro1590Ala)	ROBO1 (P1490A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1878687	NM_002941.4(ROBO1):c.4751T>C (p.Ile1584Thr)	ROBO1 (I1484T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697092	NM_002941.4(ROBO1):c.4748A>C (p.Asp1583Ala)	ROBO1 (D1483A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880187	NM_002941.4(ROBO1):c.4744+17del	ROBO1	Deletion (intron variant)	not provided	GLikely benign
Select item 713549	NM_002941.4(ROBO1):c.4744+6C>T	ROBO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767018	NM_002941.4(ROBO1):c.4744+4C>G	ROBO1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2202553	NM_002941.4(ROBO1):c.4721C>T (p.Pro1574Leu)	ROBO1 (P1474L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653979	NM_002941.4(ROBO1):c.4719A>T (p.Pro1573=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1529664	NM_002941.4(ROBO1):c.4704A>C (p.Ala1568=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1931765	NM_002941.4(ROBO1):c.4694A>G (p.Asn1565Ser)	ROBO1 (N1465S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067862	NM_002941.4(ROBO1):c.4683A>C (p.Lys1561Asn)	ROBO1 (K1516N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3003053	NM_002941.4(ROBO1):c.4677C>T (p.Asp1559=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564117	NM_002941.4(ROBO1):c.4668G>A (p.Gln1556=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068756	NM_002941.4(ROBO1):c.4663G>A (p.Glu1555Lys)	ROBO1 (E1455K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2487481	NM_002941.4(ROBO1):c.4661A>G (p.Gln1554Arg)	ROBO1 (Q1509R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2787566	NM_002941.4(ROBO1):c.4654G>A (p.Glu1552Lys)	ROBO1 (E1507K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3155593	NM_002941.4(ROBO1):c.4652G>T (p.Arg1551Ile)	ROBO1 (R1451I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155592	NM_002941.4(ROBO1):c.4652G>A (p.Arg1551Lys)	ROBO1 (R1451K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738804	NM_002941.4(ROBO1):c.4650C>T (p.Pro1550=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2283721	NM_002941.4(ROBO1):c.4631G>A (p.Arg1544Gln)	ROBO1 (R1544Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364092	NM_002941.4(ROBO1):c.4618G>A (p.Val1540Ile)	ROBO1 (V1540I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485236	NM_002941.4(ROBO1):c.4613G>C (p.Arg1538Thr)	ROBO1 (R1493T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2115580	NM_002941.4(ROBO1):c.4613G>T (p.Arg1538Ile)	ROBO1 (R1493I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097517	NM_002941.4(ROBO1):c.4612A>G (p.Arg1538Gly)	ROBO1 (R1438G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1659549	NM_002941.4(ROBO1):c.4610G>A (p.Gly1537Glu)	ROBO1 (G1437E +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 757385	NM_002941.4(ROBO1):c.4608T>C (p.Asp1536=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2723646	NM_002941.4(ROBO1):c.4606G>A (p.Asp1536Asn)	ROBO1 (D1491N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1932559	NM_002941.4(ROBO1):c.4601T>C (p.Val1534Ala)	ROBO1 (V1534A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 786013	NM_002941.4(ROBO1):c.4599A>C (p.Glu1533Asp)	ROBO1 (E1433D +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 751880	NM_002941.4(ROBO1):c.4590G>A (p.Lys1530=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736111	NM_002941.4(ROBO1):c.4566A>C (p.Ser1522=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1342665	NM_002941.4(ROBO1):c.4565C>T (p.Ser1522Leu)	ROBO1 (S1422L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 797146	NM_002941.4(ROBO1):c.4548A>G (p.Ala1516=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874008	NM_002941.4(ROBO1):c.4540A>G (p.Met1514Val)	ROBO1 (M1414V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341907	NM_002941.4(ROBO1):c.4520T>G (p.Val1507Gly)	ROBO1 (V1407G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2458044	NM_002941.4(ROBO1):c.4520T>C (p.Val1507Ala)	ROBO1 (V1462A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732104	NM_002941.4(ROBO1):c.4513C>T (p.Pro1505Ser)	ROBO1 (P1405S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1931046	NM_002941.4(ROBO1):c.4510C>T (p.Arg1504Ter)	ROBO1 (R1504* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 738100	NM_002941.4(ROBO1):c.4494G>A (p.Lys1498=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934648	NM_002941.4(ROBO1):c.4485C>T (p.Ala1495=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778428	NM_002941.4(ROBO1):c.4484C>G (p.Ala1495Gly)	ROBO1 (A1395G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507364	NM_002941.4(ROBO1):c.4465G>A (p.Ala1489Thr)	ROBO1 (A1389T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968175	NM_002941.4(ROBO1):c.4464T>C (p.Pro1488=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778875	NM_002941.4(ROBO1):c.4462C>G (p.Pro1488Ala)	ROBO1 (P1443A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937191	NM_002941.4(ROBO1):c.4458G>A (p.Pro1486=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1638186	NM_002941.4(ROBO1):c.4435+19A>T	ROBO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937285	NM_002941.4(ROBO1):c.4435+17G>A	ROBO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007606	NM_002941.4(ROBO1):c.4435+16C>T	ROBO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3155591	NM_002941.4(ROBO1):c.4415G>A (p.Arg1472His)	ROBO1 (R1372H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2749619	NM_002941.4(ROBO1):c.4414C>T (p.Arg1472Cys)	ROBO1 (R1372C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572671	NM_002941.4(ROBO1):c.4378C>A (p.Pro1460Thr)	ROBO1 (P1360T +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2891298	NM_002941.4(ROBO1):c.4364T>C (p.Met1455Thr)	ROBO1 (M1355T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700879	NM_002941.4(ROBO1):c.4360G>A (p.Val1454Ile)	ROBO1 (V1354I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2052159	NM_002941.4(ROBO1):c.4360G>T (p.Val1454Leu)	ROBO1 (V1409L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1979175	NM_002941.4(ROBO1):c.4359C>T (p.Ala1453=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662497	NM_002941.4(ROBO1):c.4358C>A (p.Ala1453Asp)	ROBO1 (A1353D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892064	NM_002941.4(ROBO1):c.4357G>A (p.Ala1453Thr)	ROBO1 (A1408T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712641	NM_002941.4(ROBO1):c.4340A>G (p.Asp1447Gly)	ROBO1 (D1347G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2516905	NM_002941.4(ROBO1):c.4330G>A (p.Val1444Met)	ROBO1 (V1444M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2896856	NM_002941.4(ROBO1):c.4329C>T (p.Pro1443=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575955	NM_002941.4(ROBO1):c.4311C>G (p.Cys1437Trp)	ROBO1 (C1337W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2715964	NM_002941.4(ROBO1):c.4302G>A (p.Ala1434=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420849	NM_002941.4(ROBO1):c.4301C>T (p.Ala1434Val)	ROBO1 (A1334V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114938	NM_002941.4(ROBO1):c.4286G>A (p.Arg1429His)	ROBO1 (R1384H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1180024	NM_002941.4(ROBO1):c.4284C>T (p.Gly1428=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1642377	NM_002941.4(ROBO1):c.4283-6C>T	ROBO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3060579	NM_002941.4(ROBO1):c.4283-9del	ROBO1	Deletion (intron variant)	ROBO1-related disorder	GBenign
Select item 3000829	NM_002941.4(ROBO1):c.4283-11T>C	ROBO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932828	NM_002941.4(ROBO1):c.4283-19_4283-18insC	ROBO1	Insertion (intron variant)	not provided	GLikely benign
Select item 1712854	NM_002941.4(ROBO1):c.4282+1_4282+26dup	ROBO1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1241025	NM_002941.4(ROBO1):c.4282+20A>G	ROBO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 995990	NM_002941.4(ROBO1):c.4259G>T (p.Arg1420Leu)	ROBO1 (R1320L +2 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 3155590	NM_002941.4(ROBO1):c.4232C>T (p.Ala1411Val)	ROBO1 (A1411V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2181665	NM_002941.4(ROBO1):c.4229C>T (p.Ala1410Val)	ROBO1 (A1365V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2315600	NM_002941.4(ROBO1):c.4196C>A (p.Thr1399Asn)	ROBO1 (T1399N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2396733	NM_002941.4(ROBO1):c.4183G>A (p.Gly1395Ser)	ROBO1 (G1295S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2583015	NM_002941.4(ROBO1):c.4182C>T (p.Asp1394=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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