ROS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 146318	GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	CALHM4, CALHM5 +91 more	Copy number loss	See cases	GLikely pathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 151218	GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1	ASF1A, CEP85L +68 more	Copy number loss	See cases	GLikely pathogenic
Select item 59527	GRCh38/hg38 6q22.1(chr6:117206991-117881842)x3	DCBLD1, GOPC +24 more	Copy number gain	See cases	GUncertain significance
Select item 2251105	NM_001378902.1(ROS1):c.7012G>A (p.Asp2338Asn)	ROS1 (D2338N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238605	NM_001378902.1(ROS1):c.7003G>A (p.Gly2335Arg)	ROS1 (G2341R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043741	NM_001378902.1(ROS1):c.6967C>G (p.Pro2323Ala)	ROS1 (P2323A +2 more)	Single nucleotide variant (missense variant)	ROS1-related disorder	GLikely benign
Select item 782476	NM_001378902.1(ROS1):c.6965A>G (p.Lys2322Arg)	ROS1 (K2328R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2390651	NM_001378902.1(ROS1):c.6942A>C (p.Gln2314His)	ROS1 (Q2314H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386720	NM_001378902.1(ROS1):c.6934G>A (p.Glu2312Lys)	ROS1 (E2312K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520402	NM_001378902.1(ROS1):c.6752A>G (p.Asp2251Gly)	ROS1 (D2251G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155780	NM_001378902.1(ROS1):c.6729T>G (p.Asp2243Glu)	ROS1 (D2245E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155779	NM_001378902.1(ROS1):c.6718G>A (p.Glu2240Lys)	ROS1 (E2240K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299379	NM_001378902.1(ROS1):c.6676G>A (p.Glu2226Lys)	ROS1 (E2226K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407943	NM_001378902.1(ROS1):c.6641A>T (p.Asn2214Ile)	ROS1 (N2214I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2673077	NM_001378902.1(ROS1):c.6621C>A (p.Asp2207Glu)	ROS1 (D2207E +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2257021	NM_001378902.1(ROS1):c.6596G>T (p.Arg2199Ile)	ROS1 (R2199I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155778	NM_001378902.1(ROS1):c.6470C>G (p.Pro2157Arg)	ROS1 (P2157R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656869	NM_001378902.1(ROS1):c.6369T>C (p.Ala2123=)	ROS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709394	NM_001378902.1(ROS1):c.6359G>A (p.Arg2120Gln)	ROS1 (R2126Q +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3155777	NM_001378902.1(ROS1):c.6298G>T (p.Ala2100Ser)	ROS1 (A2106S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712707	NM_001378902.1(ROS1):c.6246C>T (p.Ser2082=)	ROS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2543434	NM_001378902.1(ROS1):c.6236G>A (p.Cys2079Tyr)	ROS1 (C2085Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599207	NM_001378902.1(ROS1):c.6142G>A (p.Val2048Ile)	ROS1 (V2048I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228048	NM_001378902.1(ROS1):c.6106C>T (p.Arg2036Trp)	ROS1 (R2038W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155776	NM_001378902.1(ROS1):c.6081C>A (p.Asp2027Glu)	ROS1 (D2027E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443073	NM_001378902.1(ROS1):c.6079G>A (p.Asp2027Asn)	ROS1 (D2027N +2 more)	Single nucleotide variant (missense variant)	Lung sarcomatoid carcinoma	GUncertain significance
Select item 376139	NM_001378902.1(ROS1):c.6076G>A (p.Gly2026Arg)	ROS1 (G2032R +2 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GPathogenic/Likely pathogenic
Select item 3155774	NM_001378902.1(ROS1):c.5999A>G (p.His2000Arg)	ROS1 (H2002R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521553	NM_001378902.1(ROS1):c.5949G>T (p.Gln1983His)	ROS1 (Q1989H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403585	NM_001378902.1(ROS1):c.5893G>A (p.Gly1965Arg)	ROS1 (G1967R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258670	NM_001378902.1(ROS1):c.5891T>A (p.Val1964Asp)	ROS1 (V1966D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155773	NM_001378902.1(ROS1):c.5789A>G (p.Asn1930Ser)	ROS1 (N1930S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2656870	NM_001378902.1(ROS1):c.5760-265G>T	ROS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770558	NM_001378902.1(ROS1):c.5686G>A (p.Glu1896Lys)	ROS1 (E1902K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 731099	NM_001378902.1(ROS1):c.5650A>G (p.Lys1884Glu)	ROS1 (K1890E +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2210767	NM_001378902.1(ROS1):c.5630A>G (p.His1877Arg)	ROS1 (H1883R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656871	NM_001378902.1(ROS1):c.5623+1427_5623+1429dup	ROS1	Duplication (intron variant)	not provided	GBenign
Select item 2690965	NM_001378902.1(ROS1):c.5588dup (p.Ile1864fs)	ROS1 (I1864fs +2 more)	Duplication (frameshift variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 784096	NM_001378902.1(ROS1):c.5348+9G>A	ROS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2510511	NM_001378902.1(ROS1):c.5326A>C (p.Thr1776Pro)	ROS1 (T1778P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297217	NM_001378902.1(ROS1):c.5317T>C (p.Cys1773Arg)	ROS1 (C1773R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773729	NM_001378902.1(ROS1):c.5308G>C (p.Asp1770His)	ROS1 (D1776H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2606631	NM_001378902.1(ROS1):c.5290C>G (p.Gln1764Glu)	ROS1 (Q1764E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237588	NM_001378902.1(ROS1):c.5276G>C (p.Ser1759Thr)	ROS1 (S1761T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155771	NM_001378902.1(ROS1):c.5225C>A (p.Thr1742Lys)	ROS1 (T1742K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155770	NM_001378902.1(ROS1):c.5209C>G (p.Pro1737Ala)	ROS1 (P1739A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727652	NM_001378902.1(ROS1):c.5202C>T (p.Thr1734=)	ROS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2351398	NM_001378902.1(ROS1):c.5197A>C (p.Ser1733Arg)	ROS1 (S1735R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549537	NM_001378902.1(ROS1):c.5165G>A (p.Arg1722Lys)	ROS1 (R1724K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155769	NM_001378902.1(ROS1):c.5105A>T (p.Gln1702Leu)	ROS1 (Q1702L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301267	NM_001378902.1(ROS1):c.5089A>G (p.Lys1697Glu)	ROS1 (K1699E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227028	NM_001378902.1(ROS1):c.5087T>C (p.Val1696Ala)	ROS1 (V1696A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155768	NM_001378902.1(ROS1):c.5083C>G (p.His1695Asp)	ROS1 (H1695D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771720	NM_001378902.1(ROS1):c.5076G>A (p.Glu1692=)	ROS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559381	NM_001378902.1(ROS1):c.5073T>A (p.Asn1691Lys)	ROS1 (N1693K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431128	NM_001378902.1(ROS1):c.5062-46A>C	ROS1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2490979	NM_001378902.1(ROS1):c.5030A>G (p.Asn1677Ser)	ROS1 (N1683S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753083	NM_001378902.1(ROS1):c.4968T>C (p.Pro1656=)	ROS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781756	NM_001378902.1(ROS1):c.4957C>A (p.Pro1653Thr)	ROS1 (P1659T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3155766	NM_001378902.1(ROS1):c.4931C>T (p.Pro1644Leu)	ROS1 (P1646L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260200	NM_001378902.1(ROS1):c.4899C>G (p.His1633Gln)	ROS1 (H1635Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302471	NM_001378902.1(ROS1):c.4709T>C (p.Ile1570Thr)	ROS1 (I1572T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155765	NM_001378902.1(ROS1):c.4646A>C (p.Asn1549Thr)	ROS1 (N1551T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237587	NM_001378902.1(ROS1):c.4588T>C (p.Tyr1530His)	ROS1 (Y1530H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599588	NM_001378902.1(ROS1):c.4583del (p.Asn1528fs)	ROS1 (N1534fs +2 more)	Deletion (frameshift variant)	Short stature	GPathogenic
Select item 2277323	NM_001378902.1(ROS1):c.4568A>G (p.Gln1523Arg)	ROS1 (Q1523R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210328	NM_001378902.1(ROS1):c.4558T>C (p.Tyr1520His)	ROS1 (Y1526H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155763	NM_001378902.1(ROS1):c.4553C>T (p.Ser1518Leu)	ROS1 (S1518L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155762	NM_001378902.1(ROS1):c.4547C>A (p.Pro1516Gln)	ROS1 (P1518Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776149	NM_001378902.1(ROS1):c.4498A>G (p.Arg1500Gly)	ROS1 (R1506G +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778346	NM_001378902.1(ROS1):c.4401A>C (p.Thr1467=)	ROS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3155760	NM_001378902.1(ROS1):c.4358C>T (p.Ala1453Val)	ROS1 (A1453V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155759	NM_001378902.1(ROS1):c.4304A>G (p.Asp1435Gly)	ROS1 (D1437G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268482	NM_001378902.1(ROS1):c.4260T>G (p.Ser1420Arg)	ROS1 (S1420R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492521	NM_001378902.1(ROS1):c.4193G>T (p.Ser1398Ile)	ROS1 (S1398I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155758	NM_001378902.1(ROS1):c.4154A>T (p.Asp1385Val)	ROS1 (D1385V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708375	NM_001378902.1(ROS1):c.4126+3A>G	ROS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747400	NM_001378902.1(ROS1):c.4035A>G (p.Pro1345=)	ROS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2216308	NM_001378902.1(ROS1):c.4016C>A (p.Thr1339Asn)	ROS1 (T1339N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738636	NM_001378902.1(ROS1):c.3991T>C (p.Leu1331=)	ROS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2547690	NM_001378902.1(ROS1):c.3928C>A (p.Pro1310Thr)	ROS1 (P1311T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730119	NM_001378902.1(ROS1):c.3894T>C (p.Ser1298=)	ROS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3155757	NM_001378902.1(ROS1):c.3882G>A (p.Met1294Ile)	ROS1 (M1295I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271515	NM_001378902.1(ROS1):c.3871G>T (p.Gly1291Cys)	ROS1 (G1292C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354957	NM_001378902.1(ROS1):c.3841C>T (p.Arg1281Cys)	ROS1 (R1281C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599470	NM_001378902.1(ROS1):c.3746T>C (p.Val1249Ala)	ROS1 (V1250A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338708	NM_001378902.1(ROS1):c.3680A>G (p.Asp1227Gly)	ROS1 (D1232G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737972	NM_001378902.1(ROS1):c.3675A>C (p.Thr1225=)	ROS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616628	NM_001378902.1(ROS1):c.3616A>G (p.Asn1206Asp)	ROS1 (N1206D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690966	NM_001378902.1(ROS1):c.3611T>A (p.Leu1204Ter)	ROS1 (L1204* +2 more)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2266987	NM_001378902.1(ROS1):c.3569T>C (p.Met1190Thr)	ROS1 (M1191T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409172	NM_001378902.1(ROS1):c.3544G>A (p.Val1182Ile)	ROS1 (V1182I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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