ClinVar for Gene (Select 6185) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315242	NM_002951.5(RPN2):c.623C>T (p.Thr208Ile)	RPN2 (T208I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315241	NM_002951.5(RPN2):c.1607G>A (p.Arg536Lys)	RPN2 (R379K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315240	NM_002951.5(RPN2):c.854A>T (p.Gln285Leu)	RPN2 (Q253L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315239	NM_002951.5(RPN2):c.845C>G (p.Thr282Ser)	RPN2 (T250S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315238	NM_002951.5(RPN2):c.125A>G (p.Asp42Gly)	RPN2 (D42G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315237	NM_002951.5(RPN2):c.1073A>G (p.Tyr358Cys)	RPN2 (Y326C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156137	NM_002951.5(RPN2):c.215G>A (p.Cys72Tyr)	RPN2 (C72Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156136	NM_002951.5(RPN2):c.1847C>G (p.Ala616Gly)	RPN2 (A584G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156135	NM_002951.5(RPN2):c.1824C>G (p.Ile608Met)	RPN2 (I576M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156134	NM_002951.5(RPN2):c.1480A>G (p.Ile494Val)	RPN2 (I510V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3019653	NM_002951.5(RPN2):c.1593C>T (p.Arg531=)	RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2993305	NM_002951.5(RPN2):c.13+12C>G	MROH8, RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2917736	NM_002951.5(RPN2):c.1684C>T (p.Arg562Trp)	RPN2 (R530W +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2913806	NM_002951.5(RPN2):c.1839G>A (p.Thr613=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2911306	NM_002951.5(RPN2):c.480-18C>G	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2908879	NM_002951.5(RPN2):c.78T>A (p.Thr26=)	RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2901861	NM_002951.5(RPN2):c.166G>A (p.Val56Met)	RPN2 (V56M)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2899481	NM_002951.5(RPN2):c.14-4C>G	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2863300	NM_002951.5(RPN2):c.1302A>G (p.Thr434=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2849993	NM_002951.5(RPN2):c.218C>T (p.Thr73Ile)	RPN2 (T73I)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2848922	NM_002951.5(RPN2):c.184G>A (p.Gly62Ser)	RPN2 (G62S)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2805763	NM_002951.5(RPN2):c.1771T>C (p.Tyr591His)	RPN2 (Y559H +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2792150	NM_002951.5(RPN2):c.873A>G (p.Gln291=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2776805	NM_002951.5(RPN2):c.692A>G (p.Asp231Gly)	RPN2 (D247G +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2771311	NM_002951.5(RPN2):c.12G>C (p.Pro4=)	MROH8, RPN2 (R48G)	Single nucleotide variant (missense variant +2 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2770784	NM_002951.5(RPN2):c.1677+19C>T	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2764750	NM_002951.5(RPN2):c.1495-19_1495-18del	RPN2	Deletion (intron variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2762156	NM_002951.5(RPN2):c.1883+13A>G	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2746907	NM_002951.5(RPN2):c.185G>C (p.Gly62Ala)	RPN2 (G62A)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2729889	NM_002951.5(RPN2):c.1593C>G (p.Arg531=)	RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2721811	NM_002951.5(RPN2):c.1093-12A>G	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2718632	NM_002951.5(RPN2):c.797G>T (p.Arg266Leu)	RPN2 (R234L +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2716873	NM_002951.5(RPN2):c.1518T>C (p.Pro506=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2704337	NM_002951.5(RPN2):c.504A>G (p.Ala168=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2616392	NM_002951.5(RPN2):c.1198G>A (p.Ala400Thr)	RPN2 (A400T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611295	NM_002951.5(RPN2):c.1747C>T (p.His583Tyr)	RPN2 (H551Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599931	NM_002951.5(RPN2):c.254A>G (p.Asp85Gly)	RPN2 (D85G)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2598664	NM_002951.5(RPN2):c.1436A>G (p.Tyr479Cys)	RPN2 (Y495C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541742	NM_002951.5(RPN2):c.1672G>C (p.Ala558Pro)	RPN2 (A526P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528302	NM_002951.5(RPN2):c.385G>A (p.Val129Ile)	RPN2 (V97I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520369	NM_002951.5(RPN2):c.646T>C (p.Tyr216His)	RPN2 (Y184H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491765	NM_002951.5(RPN2):c.1219A>T (p.Ile407Phe)	RPN2 (I375F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488599	NM_002951.5(RPN2):c.907G>A (p.Ala303Thr)	RPN2 (A271T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487673	NM_002951.5(RPN2):c.1087G>A (p.Val363Ile)	RPN2 (V206I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426164	NC_000020.10:g.(?_35569422)_(36500415_?)dup	BLCAP, CTNNBL1 +8 more	Duplication	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2391825	NM_002951.5(RPN2):c.1655C>T (p.Pro552Leu)	RPN2 (P552L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299509	NM_002951.5(RPN2):c.1279G>T (p.Ala427Ser)	RPN2 (A427S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297818	NM_002951.5(RPN2):c.1856G>A (p.Arg619Gln)	RPN2 (R462Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283303	NM_002951.5(RPN2):c.1408A>C (p.Ile470Leu)	RPN2 (I313L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280595	NM_002951.5(RPN2):c.701T>C (p.Ile234Thr)	RPN2 (I234T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249132	NM_002951.5(RPN2):c.1544T>G (p.Leu515Trp)	RPN2 (L515W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239905	NM_002951.5(RPN2):c.946A>G (p.Arg316Gly)	RPN2 (R159G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235080	NM_002951.5(RPN2):c.546G>T (p.Glu182Asp)	RPN2 (E150D +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2214987	NM_002951.5(RPN2):c.1450A>G (p.Ile484Val)	RPN2 (I327V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214833	NM_002951.5(RPN2):c.1183C>T (p.Arg395Trp)	RPN2 (R395W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211376	NM_002951.5(RPN2):c.614T>G (p.Leu205Arg)	RPN2 (L173R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2201983	NM_002951.5(RPN2):c.1678-4T>C	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2195634	NM_002951.5(RPN2):c.479+15C>T	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2193956	NM_002951.5(RPN2):c.25G>A (p.Val9Ile)	RPN2 (V9I)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2166764	NM_002951.5(RPN2):c.1617C>T (p.Thr539=)	RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2164090	NM_002951.5(RPN2):c.673G>A (p.Glu225Lys)	RPN2 (E193K +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2159331	NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCGCGGCCGGCACTCTT	MROH8, RPN2	Insertion (nonsense +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2139265	NM_002951.5(RPN2):c.207+17C>T	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2122575	NM_002951.5(RPN2):c.51A>G (p.Ile17Met)	RPN2 (I17M)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2120293	NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCGGCGGCCGGCACTCTT	MROH8, RPN2 (G36fs)	Insertion (frameshift variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2085154	NM_002951.5(RPN2):c.1299+12A>T	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2078960	NM_002951.5(RPN2):c.1734A>G (p.Ile578Met)	RPN2 (I421M +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2077834	NM_002951.5(RPN2):c.804C>T (p.His268=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2077665	NM_002951.5(RPN2):c.227G>C (p.Arg76Thr)	RPN2 (R76T)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2063362	NM_002951.5(RPN2):c.1608G>T (p.Arg536Ser)	RPN2 (R504S +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2058536	NM_002951.5(RPN2):c.1628A>G (p.Asn543Ser)	RPN2 (N386S +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2052130	NM_002951.5(RPN2):c.715G>A (p.Ala239Thr)	RPN2 (A239T +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2051509	NM_002951.5(RPN2):c.85C>T (p.Leu29Phe)	RPN2 (L29F)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2051049	NM_002951.5(RPN2):c.484G>A (p.Val162Ile)	RPN2 (V130I +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GLikely benign
Select item 2048183	NM_002951.5(RPN2):c.1535C>T (p.Ser512Leu)	RPN2 (S480L +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2046036	NM_002951.5(RPN2):c.881A>G (p.Asn294Ser)	RPN2 (N137S +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2041031	NM_002951.5(RPN2):c.13+21_13+22insATAGACGGGGCCCCGCGGCCGGCACTCTT	MROH8, RPN2 (L38fs)	Insertion (frameshift variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2020133	NM_002951.5(RPN2):c.442del (p.Thr149fs)	RPN2 (T117fs +1 more)	Deletion (frameshift variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 1996757	NM_002951.5(RPN2):c.446C>T (p.Thr149Ile)	RPN2 (T149I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 1986160	NM_002951.5(RPN2):c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT	MROH8, RPN2 (A33fs)	Insertion (intron variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1979714	NM_002951.5(RPN2):c.1310G>A (p.Arg437Gln)	RPN2 (R280Q +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 1968844	NM_002951.5(RPN2):c.1672G>A (p.Ala558Thr)	RPN2 (A526T +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1955311	NM_002951.5(RPN2):c.1371C>T (p.Asn457=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1951985	NM_002951.5(RPN2):c.773C>T (p.Ala258Val)	RPN2 (A101V +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 1942604	NM_002951.5(RPN2):c.1019A>G (p.Lys340Arg)	RPN2 (K183R +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 1927086	NM_002951.5(RPN2):c.886C>T (p.Leu296=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1909003	NM_002951.5(RPN2):c.1578T>C (p.Ile526=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1909002	NM_002951.5(RPN2):c.13+11G>T	MROH8, RPN2 (Q44K)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1908766	NM_002951.5(RPN2):c.1618G>A (p.Val540Met)	RPN2 (V508M +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 1718371	NM_002951.5(RPN2):c.193G>T (p.Val65Leu)	RPN2 (V65L)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 1673967	NM_002951.5(RPN2):c.1300-20T>G	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GBenign
Select item 1653521	NM_002951.5(RPN2):c.1594G>A (p.Glu532Lys)	RPN2 (E375K +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1650224	NM_002951.5(RPN2):c.1353C>T (p.Ala451=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1621548	NM_002951.5(RPN2):c.1536G>A (p.Ser512=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1603229	NM_002951.5(RPN2):c.1485C>T (p.Leu495=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1597949	NM_002951.5(RPN2):c.714C>T (p.Asn238=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1576558	NM_002951.5(RPN2):c.986+17T>A	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1573327	NM_002951.5(RPN2):c.1147G>A (p.Val383Met)	RPN2 (V226M +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1557398	NM_002951.5(RPN2):c.475C>T (p.Leu159=)	RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1555717	NM_002951.5(RPN2):c.267C>T (p.Tyr89=)	RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign

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