RPTN[gene] - ClinVar

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

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155694	GRCh38/hg38 1q21.3(chr1:151858531-152298574)x1	FLG-AS1, HRNR +23 more	Copy number loss	See cases	GUncertain significance
Select item 2270177	NM_001122965.1(RPTN):c.2291A>T (p.Asp764Val)	RPTN (D764V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536986	NM_001122965.1(RPTN):c.2258G>A (p.Ser753Asn)	RPTN (S753N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2288385	NM_001122965.1(RPTN):c.2249A>G (p.His750Arg)	RPTN (H750R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458636	NM_001122965.1(RPTN):c.2203A>G (p.Lys735Glu)	RPTN (K735E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603183	NM_001122965.1(RPTN):c.2195G>A (p.Arg732Gln)	RPTN (R732Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333748	NM_001122965.1(RPTN):c.2167G>A (p.Glu723Lys)	RPTN (E723K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347211	NM_001122965.1(RPTN):c.2158G>A (p.Glu720Lys)	RPTN (E720K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531769	NM_001122965.1(RPTN):c.2149C>T (p.His717Tyr)	RPTN (H717Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303579	NM_001122965.1(RPTN):c.2110T>C (p.Trp704Arg)	RPTN (W704R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156301	NM_001122965.1(RPTN):c.1933G>A (p.Gly645Ser)	RPTN (G645S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539988	NM_001122965.1(RPTN):c.1897G>A (p.Gly633Arg)	RPTN (G633R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309622	NM_001122965.1(RPTN):c.1868C>T (p.Thr623Ile)	RPTN (T623I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156300	NM_001122965.1(RPTN):c.1837T>C (p.Ser613Pro)	RPTN (S613P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401683	NM_001122965.1(RPTN):c.1745A>G (p.His582Arg)	RPTN (H582R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411784	NM_001122965.1(RPTN):c.1721C>G (p.Thr574Arg)	RPTN (T574R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606888	NM_001122965.1(RPTN):c.1637A>G (p.His546Arg)	RPTN (H546R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 932522	NM_001122965.1(RPTN):c.1494T>C (p.His498=)	RPTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2475085	NM_001122965.1(RPTN):c.1484A>G (p.Gln495Arg)	RPTN (Q495R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156297	NM_001122965.1(RPTN):c.1442A>T (p.Gln481Leu)	RPTN (Q481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343965	NM_001122965.1(RPTN):c.1436A>C (p.Asp479Ala)	RPTN (D479A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568486	NM_001122965.1(RPTN):c.1432C>A (p.Pro478Thr)	RPTN (P478T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2562151	NM_001122965.1(RPTN):c.1381T>C (p.Ser461Pro)	RPTN (S461P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458635	NM_001122965.1(RPTN):c.1352A>G (p.Tyr451Cys)	RPTN (Y451C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156296	NM_001122965.1(RPTN):c.1334A>C (p.Gln445Pro)	RPTN (Q445P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492705	NM_001122965.1(RPTN):c.1325C>T (p.Pro442Leu)	RPTN (P442L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248184	NM_001122965.1(RPTN):c.1321C>G (p.Gln441Glu)	RPTN (Q441E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156295	NM_001122965.1(RPTN):c.1244A>G (p.Tyr415Cys)	RPTN (Y415C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383124	NM_001122965.1(RPTN):c.1211G>A (p.Gly404Asp)	RPTN (G404D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156294	NM_001122965.1(RPTN):c.1174G>A (p.Gly392Ser)	RPTN (G392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458634	NM_001122965.1(RPTN):c.1157A>G (p.Asp386Gly)	RPTN (D386G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338048	NM_001122965.1(RPTN):c.1127G>T (p.Ser376Ile)	RPTN (S376I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156309	NM_001122965.1(RPTN):c.965C>T (p.Thr322Met)	RPTN (T322M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265723	NM_001122965.1(RPTN):c.691T>C (p.Cys231Arg)	RPTN (C231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389652	NM_001122965.1(RPTN):c.689G>A (p.Arg230Gln)	RPTN (R230Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156308	NM_001122965.1(RPTN):c.679G>C (p.Ala227Pro)	RPTN (A227P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536224	NM_001122965.1(RPTN):c.655G>A (p.Ala219Thr)	RPTN (A219T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2280819	NM_001122965.1(RPTN):c.644C>T (p.Thr215Ile)	RPTN (T215I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479170	NM_001122965.1(RPTN):c.547A>C (p.Asn183His)	RPTN (N183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767702	NM_001122965.1(RPTN):c.474_509del (p.Gly159_His170del)	RPTN	Deletion (inframe_deletion)	not provided	GBenign
Select item 2639195	NM_001122965.1(RPTN):c.474T>C (p.His158=)	RPTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3156304	NM_001122965.1(RPTN):c.473A>G (p.His158Arg)	RPTN (H158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156303	NM_001122965.1(RPTN):c.453A>T (p.Arg151Ser)	RPTN (R151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156302	NM_001122965.1(RPTN):c.431C>T (p.Ser144Phe)	RPTN (S144F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394214	NM_001122965.1(RPTN):c.367C>G (p.Gln123Glu)	RPTN (Q123E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458637	NM_001122965.1(RPTN):c.331T>C (p.Cys111Arg)	RPTN (C111R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156299	NM_001122965.1(RPTN):c.173T>C (p.Leu58Ser)	RPTN (L58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156298	NM_001122965.1(RPTN):c.150C>A (p.Asp50Glu)	RPTN (D50E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544135	NM_001122965.1(RPTN):c.122T>C (p.Phe41Ser)	RPTN (F41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296801	NM_001122965.1(RPTN):c.94G>A (p.Glu32Lys)	RPTN (E32K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156305	NM_001122965.1(RPTN):c.52T>C (p.Tyr18His)	RPTN (Y18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2425291	NC_000001.10:g.(?_151801885)_(152287932_?)dup	C2CD4D, FLG +9 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	ARHGEF2, ARNT +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 814127	GRCh37/hg19 1q21.3(chr1:152000477-152223996)x1	RPTN, TCHH +3 more	Copy number loss	not provided	GUncertain significance
Select item 814126	GRCh37/hg19 1q21.3(chr1:151798754-152306536)x3	S100A11, FLG +9 more	Copy number gain	not provided	GUncertain significance
Select item 685455	GRCh37/hg19 1q21.3(chr1:151850071-152295520)x3	FLG, HRNR +6 more	Copy number gain	not provided	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 65