"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "RTTN"[gene - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2498745	NM_173630.4(RTTN):c.6624A>G (p.Leu2208=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 130194	NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr)	RTTN (A2149T +1 more)	Single nucleotide variant (missense variant)	RTTN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 871896	NM_173630.4(RTTN):c.6443C>A (p.Ala2148Asp)	RTTN (A2148D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927040	NM_173630.4(RTTN):c.6125C>T (p.Ser2042Leu)	RTTN (S2042L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 808404	NM_173630.4(RTTN):c.6080C>T (p.Thr2027Met)	RTTN (T1115M +1 more)	Single nucleotide variant (missense variant)	not provided +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)	RTTN-related condition +2 more	GBenign/Likely benign
Select item 212085	NM_173630.4(RTTN):c.6015C>T (p.Ala2005=)	RTTN	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 130189	NM_173630.4(RTTN):c.5991T>C (p.Pro1997=)	RTTN	Single nucleotide variant (synonymous variant)	RTTN-related condition +2 more	GBenign
Select item 1335312	NM_173630.4(RTTN):c.5904A>G (p.Gln1968=)	RTTN	Single nucleotide variant (synonymous variant)	RTTN-related condition +1 more	GLikely benign
Select item 796899	NM_173630.4(RTTN):c.5850C>T (p.Val1950=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648800	NM_173630.4(RTTN):c.5649C>A (p.Ala1883=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1573581	NM_173630.4(RTTN):c.5610G>A (p.Leu1870=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	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 716496	NM_173630.4(RTTN):c.5280G>A (p.Pro1760=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 713024	NM_173630.4(RTTN):c.5259A>G (p.Lys1753=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727444	NM_173630.4(RTTN):c.5225A>G (p.His1742Arg)	RTTN (H830R +1 more)	Single nucleotide variant (missense variant)	RTTN-related condition +1 more	GBenign
Select item 384935	NM_173630.4(RTTN):c.5212C>T (p.His1738Tyr)	RTTN (H1738Y +1 more)	Single nucleotide variant (missense variant)	RTTN-related condition +1 more	GConflicting classifications of pathogenicity
Select item 197052	NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp)	RTTN (N1715D +1 more)	Single nucleotide variant (missense variant)	RTTN-related condition +3 more	GBenign/Likely benign
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 808406	NM_173630.4(RTTN):c.5049A>T (p.Glu1683Asp)	RTTN (E1683D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648801	NM_173630.4(RTTN):c.4917T>C (p.Ala1639=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715833	NM_173630.4(RTTN):c.4878G>A (p.Thr1626=)	RTTN	Single nucleotide variant (synonymous variant)	RTTN-related condition +1 more	GLikely benign
Select item 389771	NM_173630.4(RTTN):c.4877C>T (p.Thr1626Met)	RTTN (T1626M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 808407	NM_173630.4(RTTN):c.4856G>A (p.Ser1619Asn)	RTTN (S1619N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422766	NM_173630.4(RTTN):c.4565-6_4565-4del	RTTN	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 2648802	NM_173630.4(RTTN):c.4548A>G (p.Glu1516=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 493239	NM_173630.4(RTTN):c.4474C>T (p.Gln1492Ter)	RTTN (Q1492* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 493240	NM_173630.4(RTTN):c.4374G>A (p.Gln1458=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 769939	NM_173630.4(RTTN):c.4308A>G (p.Ala1436=)	RTTN	Single nucleotide variant (synonymous variant)	RTTN-related condition +1 more	GBenign/Likely benign
Select item 2648803	NM_173630.4(RTTN):c.4269G>A (p.Leu1423=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808408	NM_173630.4(RTTN):c.4234G>A (p.Gly1412Ser)	RTTN (G1412S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 436608	NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met)	RTTN (T1398M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1206531	NM_173630.4(RTTN):c.4032+6C>T	RTTN	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1377182	NM_173630.4(RTTN):c.3831G>A (p.Pro1277=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 871897	NM_173630.4(RTTN):c.3705C>A (p.Tyr1235Ter)	RTTN (Y1235* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1336199	NM_173630.4(RTTN):c.3401C>G (p.Pro1134Arg)	RTTN (P1134R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 372919	NM_173630.4(RTTN):c.3338G>A (p.Cys1113Tyr)	RTTN (C1113Y +1 more)	Single nucleotide variant (missense variant)	RTTN-related condition +2 more	GConflicting classifications of pathogenicity
Select item 281410	NM_173630.4(RTTN):c.3048G>A (p.Pro1016=)	RTTN	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1694876	NM_173630.4(RTTN):c.3045G>A (p.Lys1015=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792937	NM_173630.4(RTTN):c.3018C>T (p.Pro1006=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1554328	NM_173630.4(RTTN):c.2943C>T (p.Ser981=)	RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064907	NM_173630.4(RTTN):c.2821G>C (p.Val941Leu)	RTTN (V941L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 717188	NM_173630.4(RTTN):c.2804A>G (p.His935Arg)	RTTN (H935R +1 more)	Single nucleotide variant (missense variant)	RTTN-related condition +2 more	GConflicting classifications of pathogenicity
Select item 386255	NM_173630.4(RTTN):c.2568T>A (p.Ala856=)	RTTN	Single nucleotide variant (5 prime UTR variant +1 more)	RTTN-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1675711	NM_173630.4(RTTN):c.2262T>C (p.Thr754=)	RTTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1012914	NM_173630.4(RTTN):c.2203A>G (p.Asn735Asp)	RTTN (N735D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 130168	NM_173630.4(RTTN):c.1921A>G (p.Ile641Val)	RTTN (I641V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 444436	NM_173630.4(RTTN):c.1869G>T (p.Leu623Phe)	RTTN (L623F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 444437	NM_173630.4(RTTN):c.1738C>T (p.Arg580Cys)	RTTN (R580C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 510799	NM_173630.4(RTTN):c.1563T>C (p.Ile521=)	RTTN	Single nucleotide variant (synonymous variant +1 more)	RTTN-related condition +1 more	GLikely benign
Select item 2187801	NM_173630.4(RTTN):c.1215T>C (p.Val405=)	RTTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 386474	NM_173630.4(RTTN):c.885A>G (p.Ala295=)	RTTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 725694	NM_173630.4(RTTN):c.833A>G (p.Asn278Ser)	RTTN (N278S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 130193	NM_173630.4(RTTN):c.635A>C (p.Asp212Ala)	RTTN (D212A)	Single nucleotide variant (5 prime UTR variant +1 more)	RTTN-related condition +2 more	GLikely benign
Select item 2648804	NM_173630.4(RTTN):c.399A>G (p.Glu133=)	RTTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3067700	NM_173630.4(RTTN):c.351G>C (p.Ser117=)	RTTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 444438	NM_173630.4(RTTN):c.282G>T (p.Arg94=)	RTTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 130175	NM_173630.4(RTTN):c.32-3C>T	RTTN	Single nucleotide variant (intron variant)	RTTN-related condition +3 more	GBenign/Likely benign
Select item 2578813	GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1	ADNP2, ATP9B +37 more	Copy number loss	not provided	GPathogenic
Select item 1879404	GRCh37/hg19 18q22.2(chr18:67671387-67809623)x1	RTTN	Copy number loss	not provided	GPathogenic
Select item 1176065	GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1	LINC-ROR, LINC00683 +80 more	Copy number loss	not provided	GPathogenic
Select item 369836	GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1	ADNP2, ATP9B +57 more	Copy number loss	not provided	GLikely pathogenic

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Items: 62