ClinVar for MedGen (Select 76469) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076030	NM_005787.6(ALG3):c.921C>A (p.Cys307Ter)	ALG3 (C259* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of glycosylation	GLikely pathogenic
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 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 2426164	NC_000020.10:g.(?_35569422)_(36500415_?)dup	BLCAP, CTNNBL1 +8 more	Duplication	Congenital disorder of glycosylation +1 more	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 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)	not specified +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)	not specified +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 1708471	NM_005660.3(SLC35A2):c.308A>T (p.Glu103Val)	SLC35A2 (E103V +4 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GLikely pathogenic
Select item 1698558	NM_019109.5(ALG1):c.[212C>T;221A>T]	ALG1 (S71F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1676300	NM_015274.3(MAN2B2):c.440_442del (p.Ser147del)	MAN2B2 (S147del)	Deletion (inframe_deletion)	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
Select item 1551575	NM_002951.5(RPN2):c.303+14C>G	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1549242	NM_002951.5(RPN2):c.867+12A>G	RPN2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1533392	NM_002951.5(RPN2):c.1476C>T (p.Asn492=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1483545	NM_019109.5(ALG1):c.1146G>A (p.Met382Ile)	ALG1 (M271I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1472328	NM_002951.5(RPN2):c.935C>G (p.Ser312Cys)	RPN2 (S312C +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 1470965	NM_002951.5(RPN2):c.913G>C (p.Val305Leu)	RPN2 (V305L +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 1450814	NM_002951.5(RPN2):c.1057G>A (p.Glu353Lys)	RPN2 (E369K +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 1444837	NM_002951.5(RPN2):c.1855C>T (p.Arg619Trp)	RPN2 (R635W +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 1401248	NM_002951.5(RPN2):c.64G>A (p.Ala22Thr)	RPN2 (A22T)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 1401050	NM_002951.5(RPN2):c.1316A>G (p.His439Arg)	RPN2 (H282R +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 1389122	NM_002951.5(RPN2):c.1322A>G (p.Gln441Arg)	RPN2 (Q409R +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 1184845	NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)	SLC37A4 (R350* +2 more)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type IIw +2 more	GPathogenic/Likely pathogenic
Select item 1184824	NM_001099922.3(ALG13):c.204AGA[1] (p.Glu69del)	ALG13 (E69del)	Microsatellite (inframe_deletion +3 more)	Congenital disorder of glycosylation	GLikely pathogenic
Select item 1184823	NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val)	ALG13 (G894V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1170890	NM_002951.5(RPN2):c.303+14C>T	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation +1 more	GBenign
Select item 1170510	NM_002951.5(RPN2):c.1678-7C>G	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GBenign
Select item 1170271	NM_002951.5(RPN2):c.841G>A (p.Asp281Asn)	RPN2 (D124N +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 1170206	NM_002951.5(RPN2):c.691-19C>T	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation +1 more	GBenign
Select item 1165447	NM_002951.5(RPN2):c.1663C>T (p.Leu555=)	RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation +1 more	GBenign
Select item 1164882	NM_002951.5(RPN2):c.1671C>T (p.Phe557=)	RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GBenign
Select item 1164501	NM_002951.5(RPN2):c.1372G>T (p.Val458Leu)	RPN2 (V301L +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GBenign
Select item 1156560	NM_002951.5(RPN2):c.1398T>G (p.Ser466=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1148637	NM_002951.5(RPN2):c.1677+20G>A	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GLikely benign
Select item 1148510	NM_002951.5(RPN2):c.13+21_13+22insACAGACAGGGCCCCGCGGCCGGCACTCTT	RPN2, MROH8 (I40fs)	Insertion (frameshift variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1148227	NM_002951.5(RPN2):c.99C>T (p.Asp33=)	RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign

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