ClinVar for Gene (Select 55328) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3434625	NM_001031709.3(RNLS):c.465T>A (p.Asp155Glu)	RNLS (D155E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3434624	NM_001031709.3(RNLS):c.592C>G (p.Leu198Val)	RNLS (L198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3434622	NM_001031709.3(RNLS):c.478A>C (p.Thr160Pro)	RNLS (T160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3434621	NM_001031709.3(RNLS):c.463G>A (p.Asp155Asn)	RNLS (D155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391907	GRCh37/hg19 10q23.2-24.31(chr10:88755921-102461203)x1	ABCC2, ACSM6 +128 more	Copy number loss	not provided	GPathogenic
Select item 3314958	NM_001031709.3(RNLS):c.402G>C (p.Gln134His)	RNLS (Q134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244832	NC_000010.10:g.(?_90332640)_(91222335_?)dup	LIPM, LIPN +17 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3155519	NM_001031709.3(RNLS):c.718C>T (p.Pro240Ser)	RNLS (P240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155518	NM_001031709.3(RNLS):c.664C>T (p.Arg222Cys)	RNLS (R222C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155517	NM_001031709.3(RNLS):c.55C>G (p.Leu19Val)	LIPJ, RNLS (L19V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3155515	NM_001031709.3(RNLS):c.196A>C (p.Thr66Pro)	RNLS (T66P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063146	GRCh37/hg19 10q23.31-23.32(chr10:89950990-92959893)x3	ACTA2, ANKRD1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 2898421	NM_001031709.3(RNLS):c.402G>A (p.Gln134=)	RNLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872903	NM_001031709.3(RNLS):c.697A>G (p.Ile233Val)	RNLS (I233V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799241	NM_001031709.3(RNLS):c.32T>G (p.Met11Arg)	LIPJ, RNLS (M11R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2786553	NM_001031709.3(RNLS):c.742G>A (p.Val248Ile)	RNLS (V248I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2606831	NM_001031709.3(RNLS):c.128T>C (p.Met43Thr)	RNLS (M43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603694	NM_001031709.3(RNLS):c.239T>C (p.Leu80Pro)	RNLS (L80P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2525357	NM_001031709.3(RNLS):c.284G>T (p.Gly95Val)	RNLS (G95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510150	NM_001031709.3(RNLS):c.306C>G (p.Asp102Glu)	RNLS (D102E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492139	NM_001031709.3(RNLS):c.524C>T (p.Thr175Ile)	RNLS (T175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489659	NM_001031709.3(RNLS):c.611C>T (p.Thr204Met)	RNLS (T204M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423500	NC_000010.10:g.(?_90122289)_(90122502_?)del	RNLS	Deletion	not provided	GUncertain significance
Select item 2422866	NC_000010.10:g.(?_89514444)_(90537999_?)del	ATAD1, KLLN +6 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2364091	NM_001031709.3(RNLS):c.1013T>C (p.Leu338Ser)	RNLS (L338S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338047	NM_001031709.3(RNLS):c.209C>T (p.Ala70Val)	RNLS (A70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320374	NM_001031709.3(RNLS):c.223C>T (p.Arg75Cys)	RNLS (R75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314813	NM_001031709.3(RNLS):c.691C>T (p.Arg231Cys)	RNLS (R231C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261738	NM_001031709.3(RNLS):c.578G>A (p.Arg193Gln)	RNLS (R193Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259895	NM_001031709.3(RNLS):c.404T>A (p.Ile135Asn)	RNLS (I135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256487	NM_001031709.3(RNLS):c.215A>T (p.Lys72Ile)	RNLS (K72I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2177465	NM_001031709.3(RNLS):c.253G>A (p.Val85Ile)	RNLS (V85I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2065564	NM_001031709.3(RNLS):c.805C>T (p.Gln269Ter)	RNLS (Q269*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2056616	NM_001031709.3(RNLS):c.649A>G (p.Ser217Gly)	RNLS (S217G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043747	NM_001031709.3(RNLS):c.746C>T (p.Pro249Leu)	RNLS (P249L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042254	NM_001031709.3(RNLS):c.695A>G (p.Asn232Ser)	RNLS (N232S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1940620	NM_001031709.3(RNLS):c.669C>T (p.Phe223=)	RNLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1708188	GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	ACTA2, ADIRF +50 more	Copy number loss	See cases	GPathogenic
Select item 1703558	GRCh37/hg19 10q23.31(chr10:89698323-90252519)	PTEN, RNLS	Copy number loss	Specific learning disability	GPathogenic
Select item 1660834	NM_001031709.3(RNLS):c.701-9A>G	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1654256	NM_001031709.3(RNLS):c.159G>A (p.Gln53=)	RNLS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1526267	NM_001031709.3(RNLS):c.701-1445T>C	RNLS	Single nucleotide variant (intron variant)	Family history	Gassociation
Select item 1523841	NM_001031709.3(RNLS):c.658T>C (p.Cys220Arg)	RNLS (C220R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510390	NM_001031709.3(RNLS):c.920A>T (p.His307Leu)	RNLS (H307L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1492769	NM_001031709.3(RNLS):c.1004T>C (p.Leu335Pro)	RNLS (L335P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1406450	NM_001031709.3(RNLS):c.677T>C (p.Ile226Thr)	RNLS (I226T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1320572	NM_018363.4(RNLS):c.*231G>A	RNLS	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1318371	NM_001031709.3(RNLS):c.119-176T>C	RNLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318306	NC_000010.11:g.88583361G>A	LIPJ, RNLS	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1316627	NM_001031709.3(RNLS):c.119-222A>T	RNLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316465	NM_001031709.3(RNLS):c.368-110A>C	RNLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316215	NM_001031709.3(RNLS):c.118+222_118+233del	RNLS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1315945	NC_000010.11:g.88583495T>A	LIPJ, RNLS	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1286545	NM_001031709.3(RNLS):c.527-194A>G	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285733	NM_001031709.3(RNLS):c.224+115A>G	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279237	NM_018363.4(RNLS):c.877-194del	RNLS	Deletion (intron variant)	not provided	GBenign
Select item 1276203	NM_001031709.3(RNLS):c.367+275C>T	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274833	NM_001031709.3(RNLS):c.877-249C>T	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274518	NM_018363.4(RNLS):c.*173T>A	RNLS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1274451	NM_001031709.3(RNLS):c.368-227A>T	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273084	NM_001031709.3(RNLS):c.876+83C>T	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273010	NM_001031709.3(RNLS):c.876+78T>C	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269056	NM_001031709.3(RNLS):c.877-220T>A	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266749	NM_001031709.3(RNLS):c.526+49T>C	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264620	NM_018363.4(RNLS):c.877-94G>A	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261364	NM_001031709.3(RNLS):c.876+218T>C	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259912	NM_001031709.3(RNLS):c.527-30G>A	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257899	NM_018363.4(RNLS):c.877-110G>A	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252316	NM_001031709.3(RNLS):c.701-3C>T	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251378	NM_001031709.3(RNLS):c.367+251TA[12]	RNLS	Microsatellite (intron variant)	not provided	GBenign
Select item 1250700	NM_001031709.3(RNLS):c.111G>C (p.Glu37Asp)	LIPJ, LOC130004283 +1 more (E37D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1241144	NM_001031709.3(RNLS):c.876+237C>T	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239848	NC_000010.11:g.88583641A>G	LIPJ, RNLS	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1232021	NM_018363.4(RNLS):c.*230T>C	RNLS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1228173	NM_018363.4(RNLS):c.*270G>A	RNLS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1224914	NM_001031709.3(RNLS):c.367+271_367+276del	RNLS	Deletion (intron variant)	not provided	GBenign
Select item 1178447	NM_001031709.3(RNLS):c.367+273C>T	RNLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 979282	GRCh37/hg19 10q23.31(chr10:90122675-90771228)x3	ACTA2, ANKRD22 +9 more	Copy number gain	not provided	GUncertain significance
Select item 979281	GRCh37/hg19 10q23.2-23.31(chr10:88685387-92144296)x1	ACTA2, ADIRF +34 more	Copy number loss	not provided	GPathogenic
Select item 832889	NC_000010.11:g.(?_87552082)_(88768928_?)del	ATAD1, KLLN +8 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 831557	NC_000010.11:g.(?_87863161)_(88948936_?)del	LIPF, ACTA2 +9 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 773517	NM_001031709.3(RNLS):c.332T>C (p.Ile111Thr)	RNLS (I111T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 720002	NM_001031709.3(RNLS):c.541C>A (p.Gln181Lys)	RNLS (Q181K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720001	NM_001031709.3(RNLS):c.621T>A (p.Asp207Glu)	RNLS (D207E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 668189	NM_001031709.3(RNLS):c.939A>T (p.Ala313=)	RNLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523155	GRCh38/hg38 10q23.31(chr10:87830830-88617225)x1	LOC130004269, LOC130004270 +23 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 146626	GRCh38/hg38 10q23.31(chr10:88476440-88581724)x1	RNLS	Copy number loss	See cases	GBenign

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