RTKN2[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 155221	GRCh38/hg38 10q21.2-21.3(chr10:60977777-62913465)x3	ADO, ARID5B +78 more	Copy number gain	See cases	GUncertain significance
Select item 2458926	NM_145307.4(RTKN2):c.1792A>G (p.Ile598Val)	RTKN2 (I598V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310230	NM_145307.4(RTKN2):c.1783A>G (p.Ile595Val)	RTKN2 (I595V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350440	NM_145307.4(RTKN2):c.1742A>G (p.Asn581Ser)	RTKN2 (N581S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2360634	NM_145307.4(RTKN2):c.1676C>T (p.Pro559Leu)	RTKN2 (P559L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454197	NM_145307.4(RTKN2):c.1672G>A (p.Ala558Thr)	RTKN2 (A558T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552281	NM_145307.4(RTKN2):c.1657C>G (p.Gln553Glu)	RTKN2 (Q553E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603606	NM_145307.4(RTKN2):c.1645A>G (p.Met549Val)	RTKN2 (M549V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377779	NM_145307.4(RTKN2):c.1594A>G (p.Lys532Glu)	RTKN2 (K532E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397012	NM_145307.4(RTKN2):c.1496G>A (p.Gly499Glu)	RTKN2 (G499E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332618	NM_145307.4(RTKN2):c.1270G>A (p.Ala424Thr)	RTKN2 (A424T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346325	NM_145307.4(RTKN2):c.1099C>G (p.Gln367Glu)	RTKN2 (Q367E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370214	NM_145307.4(RTKN2):c.1043A>G (p.Asp348Gly)	RTKN2 (D348G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611296	NM_145307.4(RTKN2):c.972G>T (p.Glu324Asp)	RTKN2 (E324D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 559540	NM_145307.4(RTKN2):c.952dup (p.Tyr318fs)	RTKN2 (Y318fs)	Duplication (frameshift variant)	Interstitial lung disease 2	GUncertain significance
Select item 2556087	NM_145307.4(RTKN2):c.949C>T (p.Leu317Phe)	RTKN2 (L317F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215677	NM_145307.4(RTKN2):c.893T>C (p.Met298Thr)	RTKN2 (M298T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258016	NM_145307.4(RTKN2):c.818T>C (p.Met273Thr)	RTKN2 (M273T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224697	NM_145307.4(RTKN2):c.758A>G (p.His253Arg)	RTKN2 (H253R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274881	NM_145307.4(RTKN2):c.731A>G (p.Glu244Gly)	RTKN2 (E244G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261691	NM_145307.4(RTKN2):c.560C>T (p.Thr187Ile)	RTKN2 (T187I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249553	NM_145307.4(RTKN2):c.520G>A (p.Val174Met)	RTKN2 (V174M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403005	NM_145307.4(RTKN2):c.242A>G (p.Asn81Ser)	LINC02621, RTKN2 (N81S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551701	NM_145307.4(RTKN2):c.145G>T (p.Asp49Tyr)	LINC02621, RTKN2 (D49Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063161	GRCh37/hg19 10q21.1-21.2(chr10:59447320-64201694)x1	ANK3, ARID5B +15 more	Copy number loss	not specified	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
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 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1808195	GRCh37/hg19 10q21.1-21.3(chr10:57941252-64846332)x1	ADO, ANK3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 1527588	GRCh37/hg19 10q21.2-21.3(chr10:63888935-64783617)	ADO, EGR2 +2 more	Copy number gain	not specified	GUncertain significance
Select item 815353	GRCh37/hg19 10q21.2-21.3(chr10:62191184-65348431)x1	CDK1, CABCOCO1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 815349	GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1	MTRNR2L5, TMEM26 +23 more	Copy number loss	not provided	GPathogenic
Select item 815348	GRCh37/hg19 10q21.1-21.2(chr10:55589950-63990649)x1	ANK3, PCDH15 +17 more	Copy number loss	not provided	GPathogenic
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 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 442208	GRCh37/hg19 10q21.1-21.2(chr10:57587928-64212007)x1	ANK3, ARID5B +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic

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Items: 46