"GeneDx"[submitter] AND "RTTN"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 399

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 60003	GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	ADNP2, ATP9B +373 more	Copy number loss	See cases	GPathogenic
Select item 1221909	NM_173630.4(RTTN):c.*93G>A	RTTN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 515375	NM_173630.4(RTTN):c.6642A>G (p.Lys2214=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 130196	NM_173630.4(RTTN):c.6636T>C (p.Tyr2212=)	RTTN	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1295478	NM_173630.4(RTTN):c.6596-184G>A	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684156	NM_173630.4(RTTN):c.6596-273A>G	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220373	NM_173630.4(RTTN):c.6596-278A>G	RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684155	NM_173630.4(RTTN):c.6595+295A>G	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206939	NM_173630.4(RTTN):c.6595+221T>C	RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191286	NM_173630.4(RTTN):c.6595+165_6595+168del	RTTN	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1206839	NM_173630.4(RTTN):c.6595+138A>G	RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208801	NM_173630.4(RTTN):c.6526-221A>G	RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262593	NM_173630.4(RTTN):c.6526-248A>G	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201846	NM_173630.4(RTTN):c.6525+325C>G	RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218989	NM_173630.4(RTTN):c.6525+151C>A	RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706232	NM_173630.4(RTTN):c.6449G>T (p.Cys2150Phe)	RTTN (C1238F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130194	NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr)	RTTN (A2149T +1 more)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to RTTN deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1267140	NM_173630.4(RTTN):c.6422-207C>T	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233538	NM_173630.4(RTTN):c.6422-329T>C	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678366	NM_173630.4(RTTN):c.6421+158C>G	RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 489162	NM_173630.4(RTTN):c.6421+1G>A	RTTN	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 748625	NM_173630.4(RTTN):c.6417T>C (p.Ala2139=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 197556	NM_173630.4(RTTN):c.6409A>T (p.Ile2137Phe)	RTTN (I2137F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514498	NM_173630.4(RTTN):c.6339C>T (p.His2113=)	RTTN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 427013	NM_173630.4(RTTN):c.6301T>C (p.Cys2101Arg)	RTTN (C2101R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 594649	NM_173630.4(RTTN):c.6189G>T (p.Leu2063Phe)	RTTN (L2063F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1295472	NM_173630.4(RTTN):c.6154-97G>A	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232077	NM_173630.4(RTTN):c.6154-119A>G	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292568	NM_173630.4(RTTN):c.6154-215A>T	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226067	NM_173630.4(RTTN):c.6153+206T>C	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306025	NM_173630.4(RTTN):c.6149A>G (p.Gln2050Arg)	RTTN (Q2050R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130191	NM_173630.4(RTTN):c.6144A>G (p.Val2048=)	RTTN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1878705	NM_173630.4(RTTN):c.6134G>A (p.Cys2045Tyr)	RTTN (C1133Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808404	NM_173630.4(RTTN):c.6080C>T (p.Thr2027Met)	RTTN (T1115M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 130190	NM_173630.4(RTTN):c.6038G>T (p.Cys2013Phe)	RTTN (C2013F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 737534	NM_173630.4(RTTN):c.6021C>T (p.Ser2007=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2076478	NM_173630.4(RTTN):c.6016G>A (p.Val2006Met)	RTTN (V1094M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212085	NM_173630.4(RTTN):c.6015C>T (p.Ala2005=)	RTTN	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 130189	NM_173630.4(RTTN):c.5991T>C (p.Pro1997=)	RTTN	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2194510	NM_173630.4(RTTN):c.5971T>G (p.Ser1991Ala)	RTTN (S1079A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214635	NM_173630.4(RTTN):c.5951-57T>C	RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181170	NM_173630.4(RTTN):c.5950+210C>T	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229811	NM_173630.4(RTTN):c.5950+138G>A	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296148	NM_173630.4(RTTN):c.5950+37A>C	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 436606	NM_173630.4(RTTN):c.5916G>C (p.Gln1972His)	RTTN (Q1972H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 212084	NM_173630.4(RTTN):c.5883G>A (p.Leu1961=)	RTTN	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 796899	NM_173630.4(RTTN):c.5850C>T (p.Val1950=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1244812	NM_173630.4(RTTN):c.5824-139G>A	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678365	NM_173630.4(RTTN):c.5824-248A>G	LOC130062700, RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228570	NM_173630.4(RTTN):c.5823+204C>T	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197690	NM_173630.4(RTTN):c.5823+118C>T	RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297964	NM_173630.4(RTTN):c.5823+86del	RTTN	Deletion (intron variant)	not provided	GBenign
Select item 1188801	NM_173630.4(RTTN):c.5823+5_5823+20del	RTTN	Deletion (intron variant)	not provided	GUncertain significance
Select item 1233945	NM_173630.4(RTTN):c.5746-277C>A	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196814	NM_173630.4(RTTN):c.5745+205A>G	RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195767	NM_173630.4(RTTN):c.5745+27TA[2]	RTTN	Microsatellite (intron variant)	not provided	GLikely benign
Select item 381801	NM_173630.4(RTTN):c.5745+13G>T	RTTN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1195516	NM_173630.4(RTTN):c.5648-87C>G	RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189833	NM_173630.4(RTTN):c.5648-124A>G	RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200299	NM_173630.4(RTTN):c.5647+100del	RTTN	Deletion (intron variant)	not provided	GLikely benign
Select item 380940	NM_173630.4(RTTN):c.5647+16C>T	RTTN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 390898	NM_173630.4(RTTN):c.5647+10A>G	RTTN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 423446	NM_173630.4(RTTN):c.5572C>G (p.Leu1858Val)	RTTN (L1858V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1240445	NM_173630.4(RTTN):c.5542-9del	RTTN	Deletion (intron variant)	not provided	GBenign
Select item 1297962	NM_173630.4(RTTN):c.5542-88C>G	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217952	NM_173630.4(RTTN):c.5541+283C>G	LOC126862785, RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 386468	NM_173630.4(RTTN):c.5541+16G>T	LOC126862785, RTTN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 373582	NM_173630.4(RTTN):c.5527G>C (p.Asp1843His)	LOC126862785, RTTN (D1843H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3252889	NM_173630.4(RTTN):c.5420A>G (p.Lys1807Arg)	LOC126862785, RTTN (K1807R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700810	NM_173630.4(RTTN):c.5357C>T (p.Thr1786Met)	LOC126862785, RTTN (T1786M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329763	NM_173630.4(RTTN):c.5349G>C (p.Leu1783Phe)	LOC126862785, RTTN (L1783F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199469	NM_173630.4(RTTN):c.5323+303A>G	RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277238	NM_173630.4(RTTN):c.5323+46C>T	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422588	NM_173630.4(RTTN):c.5323+7_5323+9del	RTTN	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 516678	NM_173630.4(RTTN):c.5319G>C (p.Ala1773=)	RTTN	Single nucleotide variant (synonymous variant)	Microcephalic primordial dwarfism due to RTTN deficiency +2 more	GBenign/Likely benign
Select item 1485608	NM_173630.4(RTTN):c.5315C>T (p.Ala1772Val)	RTTN (A1772V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1328806	NM_173630.4(RTTN):c.5315C>G (p.Ala1772Gly)	RTTN (A1772G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 130188	NM_173630.4(RTTN):c.5282T>C (p.Phe1761Ser)	RTTN (F1761S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 716496	NM_173630.4(RTTN):c.5280G>A (p.Pro1760=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1328780	NM_173630.4(RTTN):c.5264G>C (p.Gly1755Ala)	RTTN (G1755A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 727444	NM_173630.4(RTTN):c.5225A>G (p.His1742Arg)	RTTN (H830R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 384935	NM_173630.4(RTTN):c.5212C>T (p.His1738Tyr)	RTTN (H1738Y +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 130187	NM_173630.4(RTTN):c.5186-4A>G	RTTN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1263444	NM_173630.4(RTTN):c.5186-53G>A	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287434	NM_173630.4(RTTN):c.5185+86T>A	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193856	NM_173630.4(RTTN):c.5185+27T>C	RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 197052	NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp)	RTTN (N1715D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1915437	NM_173630.4(RTTN):c.5092G>T (p.Val1698Leu)	RTTN (V786L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130186	NM_173630.4(RTTN):c.5060C>G (p.Ser1687Cys)	RTTN (S1687C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 808405	NM_173630.4(RTTN):c.5055A>G (p.Leu1685=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1238367	NM_173630.4(RTTN):c.5032-231T>G	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270044	NM_173630.4(RTTN):c.5031+176T>C	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295477	NM_173630.4(RTTN):c.5031+138C>G	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452891	NM_173630.4(RTTN):c.5000C>T (p.Ser1667Leu)	RTTN (S1667L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130185	NM_173630.4(RTTN):c.4992G>C (p.Leu1664=)	RTTN	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2573847	NM_173630.4(RTTN):c.4957C>T (p.Leu1653Phe)	RTTN (L1653F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1183176	NM_173630.4(RTTN):c.4941-71T>G	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296147	NM_173630.4(RTTN):c.4941-140A>G	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 4