22796[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57819	GRCh38/hg38 1q42.13-42.2(chr1:229883805-231517553)x3	AGT, ARV1 +66 more	Copy number gain	See cases	GUncertain significance
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
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 57820	GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)x3	AGT, ARV1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 161003	GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3	AGT, ARV1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 32991	GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3	AGT, ARV1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 1232503	NM_007357.3(COG2):c.-104del	COG2	Deletion (5 prime UTR variant)	not provided	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 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 1691000	NM_007357.3(COG2):c.48C>A (p.Cys16Ter)	COG2, LOC129932756 (C16*)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
Select item 1245452	NM_007357.3(COG2):c.72+67G>C	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285989	NM_007357.3(COG2):c.73-33T>C	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
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 724333	NM_007357.3(COG2):c.73-10T>C	COG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3147085	NM_007357.3(COG2):c.85G>A (p.Val29Ile)	COG2 (V29I)	Single nucleotide variant (missense variant)	not specified	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 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 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 749838	NM_007357.3(COG2):c.132A>G (p.Glu44=)	COG2	Single nucleotide variant (synonymous variant)	not provided	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 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 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 709599	NM_007357.3(COG2):c.183C>T (p.Val61=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq +1 more	GBenign
Select item 2063998	NM_007357.3(COG2):c.184G>A (p.Glu62Lys)	COG2 (E62K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 718942	NM_007357.3(COG2):c.218A>G (p.Asn73Ser)	COG2 (N73S)	Single nucleotide variant (missense variant)	COG2-related disorder +1 more	GLikely benign
Select item 1270031	NM_007357.3(COG2):c.234+270A>G	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248042	NM_007357.3(COG2):c.235-264C>T	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227643	NM_007357.3(COG2):c.235-178A>G	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242323	NM_007357.3(COG2):c.235-129A>C	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
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 672165	NM_007357.3(COG2):c.264T>G (p.Leu88=)	COG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 1318436	NM_007357.3(COG2):c.301-79G>A	COG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261980	NM_007357.3(COG2):c.301-12dup	COG2	Duplication (intron variant)	not provided	GBenign
Select item 719639	NM_007357.3(COG2):c.301-10T>G	COG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 770502	NM_007357.3(COG2):c.301-9C>T	COG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2386725	NM_007357.3(COG2):c.373A>G (p.Lys125Glu)	COG2 (K125E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 1260127	NM_007357.3(COG2):c.382-235dup	COG2	Duplication (intron variant)	not provided	GBenign
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 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 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 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 568944	NM_007357.3(COG2):c.436dup (p.Ile146fs)	COG2 (I146fs)	Duplication (frameshift variant)	Congenital disorder of glycosylation, type IIq	GPathogenic
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 2537008	NM_007357.3(COG2):c.473T>A (p.Leu158Gln)	COG2 (L158Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 2211044	NM_007357.3(COG2):c.488C>G (p.Pro163Arg)	COG2 (P163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2223417	NM_007357.3(COG2):c.566G>C (p.Gly189Ala)	COG2 (G189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1257292	NM_007357.3(COG2):c.594+243C>T	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264998	NM_007357.3(COG2):c.595-280A>C	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 714671	NM_007357.3(COG2):c.627G>A (p.Gln209=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 745705	NM_007357.3(COG2):c.654C>A (p.Gly218=)	COG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 417770	NM_007357.3(COG2):c.701dup (p.Tyr234Ter)	COG2 (Y234*)	Duplication (nonsense)	Congenital disorder of glycosylation, type IIq	GPathogenic
Select item 774284	NM_007357.3(COG2):c.708G>A (p.Thr236=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq +1 more	GBenign/Likely benign
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 651045	NM_007357.3(COG2):c.772G>A (p.Glu258Lys)	COG2 (E258K)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 751504	NM_007357.3(COG2):c.774+9A>G	COG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 3268464	NM_007357.3(COG2):c.862C>T (p.Arg288Cys)	COG2 (R288C)	Single nucleotide variant (missense variant)	not specified	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 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 1231567	NM_007357.3(COG2):c.900-199C>A	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 478371	NM_007357.3(COG2):c.912T>A (p.Asn304Lys)	COG2 (N304K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 2905768	NM_007357.3(COG2):c.987C>G (p.Pro329=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign

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