ClinVar for Gene (Select 22796) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268465	NM_007357.3(COG2):c.1124G>A (p.Ser375Asn)	COG2 (S375N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268464	NM_007357.3(COG2):c.862C>T (p.Arg288Cys)	COG2 (R288C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268463	NM_007357.3(COG2):c.2046T>A (p.Ser682Arg)	COG2 (S682R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251550	NC_000001.10:g.(230814799_230819319)_(230820983_230822680)del	COG2	Deletion	Congenital disorder of glycosylation, type IIq	GPathogenic
Select item 3147085	NM_007357.3(COG2):c.85G>A (p.Val29Ile)	COG2 (V29I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147084	NM_007357.3(COG2):c.2200A>G (p.Thr734Ala)	COG2 (T733A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147083	NM_007357.3(COG2):c.1700T>C (p.Leu567Ser)	COG2 (L566S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147082	NM_007357.3(COG2):c.1594G>A (p.Glu532Lys)	COG2 (E532K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147080	NM_007357.3(COG2):c.1376A>G (p.Asn459Ser)	COG2 (N459S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2685876	GRCh37/hg19 1q42.2(chr1:230736222-230835071)x1	COG2	Copy number loss	not provided	GUncertain significance
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2623308	NM_007357.3(COG2):c.2053A>G (p.Met685Val)	COG2 (M684V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597009	NM_007357.3(COG2):c.2176G>A (p.Val726Ile)	COG2 (V725I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2539877	NM_007357.3(COG2):c.595C>T (p.Arg199Cys)	COG2 (R199C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537008	NM_007357.3(COG2):c.473T>A (p.Leu158Gln)	COG2 (L158Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490545	NM_007357.3(COG2):c.1231G>C (p.Glu411Gln)	COG2 (E411Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484207	NM_007357.3(COG2):c.2032C>T (p.Pro678Ser)	COG2 (P677S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425915	NC_000001.10:g.(?_229567246)_(231413288_?)del	ABCB10, ACTA1 +15 more	Deletion	not provided	GPathogenic
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 2386725	NM_007357.3(COG2):c.373A>G (p.Lys125Glu)	COG2 (K125E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378370	NM_007357.3(COG2):c.809A>G (p.Asn270Ser)	COG2 (N270S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2364158	NM_007357.3(COG2):c.1012G>A (p.Asp338Asn)	COG2 (D338N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343345	NM_007357.3(COG2):c.1805C>T (p.Thr602Ile)	COG2 (T601I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324038	NM_007357.3(COG2):c.1246C>T (p.Leu416Phe)	COG2 (L416F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319204	NM_007357.3(COG2):c.1948G>A (p.Val650Met)	COG2 (V649M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266275	NM_007357.3(COG2):c.1412C>T (p.Pro471Leu)	COG2 (P471L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259919	NM_007357.3(COG2):c.989C>T (p.Ser330Leu)	COG2 (S330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250589	NM_007357.3(COG2):c.1949T>C (p.Val650Ala)	COG2 (V649A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237614	NM_007357.3(COG2):c.2161G>A (p.Ala721Thr)	COG2 (A721T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226890	NM_007357.3(COG2):c.1741G>T (p.Gly581Cys)	COG2 (G580C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223965	NM_007357.3(COG2):c.2189A>G (p.Lys730Arg)	COG2 (K730R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223417	NM_007357.3(COG2):c.566G>C (p.Gly189Ala)	COG2 (G189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218961	NM_007357.3(COG2):c.670G>A (p.Val224Ile)	COG2 (V224I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211044	NM_007357.3(COG2):c.488C>G (p.Pro163Arg)	COG2 (P163R)	Single nucleotide variant (missense variant)	not specified	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)	not specified +1 more	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)	Congenital disorder of glycosylation, type IIq +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 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809325	GRCh37/hg19 1q42.2(chr1:230745415-230835071)x1	COG2	Copy number loss	not provided	GUncertain significance
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1707266	NM_007357.3(COG2):c.2116-59T>C	COG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1691000	NM_007357.3(COG2):c.48C>A (p.Cys16Ter)	COG2, LOC129932756 (C16*)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
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	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 1527603	GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538)	ABCB10, ACTA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
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)	not specified +1 more	GUncertain significance
Select item 1411795	NC_000001.10:g.(?_229567246)_(232172577_?)dup	ABCB10, ACTA1 +21 more	Duplication	Actin accumulation myopathy	GUncertain significance

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