RPTN[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155694	GRCh38/hg38 1q21.3(chr1:151858531-152298574)x1	CCDST, 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 3315357	NM_001122965.1(RPTN):c.2191A>G (p.Arg731Gly)	RPTN (R731G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3315358	NM_001122965.1(RPTN):c.1942G>C (p.Val648Leu)	RPTN (V648L)	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 3315356	NM_001122965.1(RPTN):c.1012G>T (p.Gly338Cys)	RPTN (G338C)	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 3315359	NM_001122965.1(RPTN):c.469C>T (p.His157Tyr)	RPTN (H157Y)	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	CRTC2, KHDC4 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +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

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Items: 69