ClinVar for MedGen (Select 1390458) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2988344	NM_007357.3(COG2):c.1166+19G>A	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2916753	NM_007357.3(COG2):c.1002T>C (p.Pro334=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2915989	NM_007357.3(COG2):c.900-20T>C	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2905768	NM_007357.3(COG2):c.987C>G (p.Pro329=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2902594	NM_007357.3(COG2):c.300+11C>T	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2879028	NM_007357.3(COG2):c.1935-3A>G	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 2862222	NM_007357.3(COG2):c.1800C>G (p.Val600=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2847744	NM_007357.3(COG2):c.145C>T (p.Leu49=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2843617	NM_007357.3(COG2):c.189C>T (p.Leu63=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2782483	NM_007357.3(COG2):c.1480G>A (p.Asp494Asn)	COG2 (D494N)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 2694432	NM_007357.3(COG2):c.1026+14C>T	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2425124	NC_000001.10:g.(?_230203028)_(231413288_?)del	AGT, ARV1 +10 more	Deletion	Congenital disorder of glycosylation, type IIq	GPathogenic
Select item 2417784	NM_007357.3(COG2):c.615C>T (p.Ala205=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2378370	NM_007357.3(COG2):c.809A>G (p.Asn270Ser)	COG2 (N270S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2192791	NM_007357.3(COG2):c.174A>G (p.Thr58=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2191774	NM_007357.3(COG2):c.695G>T (p.Arg232Leu)	COG2 (R232L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 2189629	NM_007357.3(COG2):c.1040G>A (p.Ser347Asn)	COG2 (S347N)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 2162761	NM_007357.3(COG2):c.42G>A (p.Thr14=)	COG2, LOC129932756	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2162129	NM_007357.3(COG2):c.479C>T (p.Ala160Val)	COG2 (A160V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 2150800	NM_007357.3(COG2):c.1977G>A (p.Lys659=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2147512	NM_007357.3(COG2):c.2139_2142del (p.Ser714fs)	COG2 (S714fs +1 more)	Deletion (frameshift variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 2147341	NM_007357.3(COG2):c.485+19A>G	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2145172	NM_007357.3(COG2):c.413G>A (p.Arg138Gln)	COG2 (R138Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 2144298	NM_007357.3(COG2):c.81C>T (p.Phe27=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 2139588	NM_007357.3(COG2):c.312G>A (p.Ser104=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GBenign
Select item 2125691	NM_007357.3(COG2):c.1329G>A (p.Leu443=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2118573	NM_007357.3(COG2):c.601G>A (p.Ala201Thr)	COG2 (A201T)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 2079472	NM_007357.3(COG2):c.2159C>T (p.Ser720Leu)	COG2 (S719L +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 2064675	NM_007357.3(COG2):c.2115+18G>A	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2063998	NM_007357.3(COG2):c.184G>A (p.Glu62Lys)	COG2 (E62K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2063121	NM_007357.3(COG2):c.872G>A (p.Arg291Gln)	COG2 (R291Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 2023109	NM_007357.3(COG2):c.1167-19C>A	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 2012829	NM_007357.3(COG2):c.843G>A (p.Glu281=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1988707	NM_007357.3(COG2):c.235-8del	COG2	Deletion (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1970272	NM_007357.3(COG2):c.260del (p.Gln87fs)	COG2 (Q87fs)	Deletion (frameshift variant)	Congenital disorder of glycosylation, type IIq	GPathogenic
Select item 1959196	NM_007357.3(COG2):c.1301T>C (p.Met434Thr)	COG2 (M434T)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1946848	NM_007357.3(COG2):c.482G>A (p.Ser161Asn)	COG2 (S161N)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1917541	NM_007357.3(COG2):c.1182G>C (p.Ala394=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1917130	NM_007357.3(COG2):c.1578+11G>C	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1646068	NM_007357.3(COG2):c.1026+11G>A	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1644256	NM_007357.3(COG2):c.899+15C>G	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1627848	NM_007357.3(COG2):c.1107C>T (p.Ala369=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1620988	NM_007357.3(COG2):c.1392G>A (p.Arg464=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1588716	NM_007357.3(COG2):c.73-19C>T	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1583720	NM_007357.3(COG2):c.900-19A>T	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1574797	NM_007357.3(COG2):c.489C>T (p.Pro163=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1565529	NM_007357.3(COG2):c.2115+7C>T	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1563563	NM_007357.3(COG2):c.2115+14C>T	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1556615	NM_007357.3(COG2):c.1740C>T (p.Phe580=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq +1 more	GLikely benign
Select item 1544020	NM_007357.3(COG2):c.1965C>T (p.Asn655=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1495901	NM_007357.3(COG2):c.1467A>G (p.Gln489=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1470130	NM_007357.3(COG2):c.151C>T (p.Leu51Phe)	COG2 (L51F)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1464722	NM_007357.3(COG2):c.109A>G (p.Arg37Gly)	COG2 (R37G)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1420836	NM_007357.3(COG2):c.1133A>G (p.Lys378Arg)	COG2 (K378R)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1417869	NM_007357.3(COG2):c.860G>A (p.Cys287Tyr)	COG2 (C287Y)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1413898	NM_007357.3(COG2):c.115C>T (p.Arg39Trp)	COG2 (R39W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1399803	NM_007357.3(COG2):c.1565A>G (p.Lys522Arg)	COG2 (K522R)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1386352	NM_007357.3(COG2):c.504A>C (p.Gln168His)	COG2 (Q168H)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1362595	NM_007357.3(COG2):c.722G>A (p.Arg241Gln)	COG2 (R241Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1352034	NM_007357.3(COG2):c.412C>T (p.Arg138Trp)	COG2 (R138W)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1350078	NM_007357.3(COG2):c.1067G>A (p.Arg356Gln)	COG2 (R356Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1165357	NM_007357.3(COG2):c.1036A>G (p.Ile346Val)	COG2 (I346V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq +1 more	GBenign
Select item 1164695	NM_007357.3(COG2):c.2217A>G (p.Ter739=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq +1 more	GBenign
Select item 1138482	NM_007357.3(COG2):c.36G>A (p.Pro12=)	COG2, LOC129932756	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1126891	NM_007357.3(COG2):c.1182G>A (p.Ala394=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1116402	NM_007357.3(COG2):c.1407A>G (p.Glu469=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1040914	NM_007357.3(COG2):c.1358G>A (p.Arg453Gln)	COG2 (R453Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1030211	NM_007357.3(COG2):c.1529G>T (p.Arg510Leu)	COG2 (R510L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1030210	NM_007357.3(COG2):c.116G>A (p.Arg39Gln)	COG2 (R39Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1021470	NM_007357.3(COG2):c.1765G>C (p.Val589Leu)	COG2 (V588L +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1017465	NM_007357.3(COG2):c.1284G>T (p.Arg428Ser)	COG2 (R428S)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1011775	NM_007357.3(COG2):c.1015G>C (p.Ala339Pro)	COG2 (A339P)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1009715	NM_007357.3(COG2):c.1601T>A (p.Ile534Asn)	COG2 (I534N)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 996958	NM_007357.3(COG2):c.1855C>T (p.Gln619Ter)	COG2 (Q618* +1 more)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type IIq	GLikely pathogenic
Select item 961335	NM_007357.3(COG2):c.1622T>C (p.Ile541Thr)	COG2 (I541T)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 941212	NM_007357.3(COG2):c.936G>A (p.Leu312=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 934430	NM_007357.3(COG2):c.1709A>G (p.Lys570Arg)	COG2 (K569R +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 806380	NM_007357.3(COG2):c.1825G>A (p.Asp609Asn)	COG2 (D609N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 806379	NM_007357.3(COG2):c.1066C>T (p.Arg356Trp)	COG2 (R356W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 800187	NM_007357.3(COG2):c.405A>G (p.Gln135=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 786727	NM_007357.3(COG2):c.2166C>T (p.Leu722=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GBenign
Select item 784689	NM_007357.3(COG2):c.485+8T>A	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 779702	NM_007357.3(COG2):c.567C>T (p.Gly189=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GBenign
Select item 779620	NM_007357.3(COG2):c.1532C>G (p.Thr511Ser)	COG2 (T511S)	Single nucleotide variant (missense variant)	COG2-related condition +1 more	GLikely benign
Select item 775694	NM_007357.3(COG2):c.1765G>A (p.Val589Ile)	COG2 (V588I +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq +1 more	GBenign/Likely benign
Select item 774284	NM_007357.3(COG2):c.708G>A (p.Thr236=)	COG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 752608	NM_007357.3(COG2):c.2110G>A (p.Glu704Lys)	COG2 (E703K +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 747187	NM_007357.3(COG2):c.435A>G (p.Lys145=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 731997	NM_007357.3(COG2):c.381+4T>C	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 729988	NM_007357.3(COG2):c.1957G>A (p.Val653Ile)	COG2 (V652I +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 729487	NM_007357.3(COG2):c.2034C>T (p.Pro678=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 728271	NM_007357.3(COG2):c.846T>C (p.Phe282=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 726967	NM_007357.3(COG2):c.1026+10C>T	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 723753	NM_007357.3(COG2):c.1911C>T (p.Gly637=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 720097	NM_007357.3(COG2):c.1189T>C (p.Leu397=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 719608	NM_007357.3(COG2):c.381+8C>T	COG2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 718942	NM_007357.3(COG2):c.218A>G (p.Asn73Ser)	COG2 (N73S)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq +1 more	GLikely benign
Select item 715155	NM_007357.3(COG2):c.2061C>T (p.Asp687=)	COG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 714955	NM_007357.3(COG2):c.402A>G (p.Ile134Met)	COG2 (I134M)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 714671	NM_007357.3(COG2):c.627G>A (p.Gln209=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign

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