8301[geneid] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	CHORDC1, GDPD4 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 150919	GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 144652	GRCh38/hg38 11q14.1-14.2(chr11:84828513-86641208)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 160941	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 33851	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 1225301	NM_007166.4(PICALM):c.1945-284_1945-283del	PICALM	Deletion (intron variant)	not provided	GBenign
Select item 1272654	NM_007166.4(PICALM):c.1944+177G>A	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261860	NM_007166.4(PICALM):c.1840-241A>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261536	NM_007166.4(PICALM):c.1840-296T>A	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252751	NM_007166.4(PICALM):c.1780-1710A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233368	NM_007166.4(PICALM):c.1779+111T>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3057529	NM_007166.4(PICALM):c.1777A>G (p.Met593Val)	PICALM (M492V +3 more)	Single nucleotide variant (missense variant)	PICALM-related condition	GLikely benign
Select item 731410	NM_007166.4(PICALM):c.1770T>A (p.Ala590=)	PICALM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 403297	NM_007166.4(PICALM):c.1770T>G (p.Ala590=)	PICALM	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 776641	NM_007166.4(PICALM):c.1758C>T (p.Thr586=)	PICALM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2222555	NM_007166.4(PICALM):c.1751C>A (p.Pro584Gln)	PICALM (P534Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1174406	NM_007166.4(PICALM):c.1680-71T>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2522295	NM_007166.4(PICALM):c.1598G>A (p.Ser533Asn)	PICALM (S483N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1230276	NM_007166.4(PICALM):c.1517-307G>A	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230620	NM_007166.4(PICALM):c.1516+301T>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2391925	NM_007166.4(PICALM):c.1447G>T (p.Ala483Ser)	PICALM (A382S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 748719	NM_007166.4(PICALM):c.1409-7T>C	PICALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2551004	NM_007166.4(PICALM):c.1375A>G (p.Thr459Ala)	PICALM (T459A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488063	NM_007166.4(PICALM):c.1331G>C (p.Ser444Thr)	PICALM (S437T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608688	NM_007166.4(PICALM):c.1264T>G (p.Phe422Val)	PICALM (F422V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1263630	NM_007166.4(PICALM):c.1259-180A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261023	NM_007166.4(PICALM):c.1259-299A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3024905	NM_007166.4(PICALM):c.1231G>C (p.Ala411Pro)	PICALM (A360P +1 more)	Single nucleotide variant (missense variant)	PICALM-related condition +1 more	GLikely benign
Select item 726978	NM_007166.4(PICALM):c.1215A>G (p.Val405=)	PICALM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2539063	NM_007166.4(PICALM):c.1175A>G (p.Asp392Gly)	PICALM (D392G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338042	NM_007166.4(PICALM):c.1164G>T (p.Lys388Asn)	PICALM (K337N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789491	NM_007166.4(PICALM):c.1155-7T>A	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786792	NM_007166.4(PICALM):c.1155-8C>T	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2258319	NM_007166.4(PICALM):c.1078C>T (p.Pro360Ser)	PICALM (P309S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 753499	NM_007166.4(PICALM):c.942A>G (p.Leu314=)	PICALM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1234320	NM_007166.4(PICALM):c.894-236A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279148	NM_007166.4(PICALM):c.894-306A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266957	NM_007166.4(PICALM):c.893+121A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242599	NM_007166.4(PICALM):c.808-111A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2276028	NM_007166.4(PICALM):c.788A>G (p.Asp263Gly)	PICALM (D263G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403298	NM_007166.4(PICALM):c.766-15A>G	PICALM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1286225	NM_007166.4(PICALM):c.766-37T>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267376	NM_007166.4(PICALM):c.766-190G>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2392423	NM_007166.4(PICALM):c.692A>G (p.Lys231Arg)	PICALM (K180R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300919	NM_007166.4(PICALM):c.688T>C (p.Cys230Arg)	PICALM (C179R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1261641	NM_007166.4(PICALM):c.659-68dup	PICALM	Duplication (intron variant)	not provided	GBenign
Select item 1174456	NM_007166.4(PICALM):c.658+197G>A	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3040645	NM_007166.4(PICALM):c.585T>C (p.Ala195=)	PICALM	Single nucleotide variant (synonymous variant)	PICALM-related condition	GLikely benign
Select item 3052585	NM_007166.4(PICALM):c.547-5C>T	PICALM	Single nucleotide variant (intron variant)	PICALM-related condition	GLikely benign
Select item 1251482	NM_007166.4(PICALM):c.547-92G>A	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403299	NM_007166.4(PICALM):c.522G>A (p.Gln174=)	PICALM	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1295088	NM_007166.4(PICALM):c.453-288A>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286299	NM_007166.4(PICALM):c.452+345T>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251190	NM_007166.4(PICALM):c.452+302A>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244659	NM_007166.4(PICALM):c.350-217A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228575	NM_007166.4(PICALM):c.350-304_350-303insAT	PICALM	Insertion (intron variant)	not provided	GBenign
Select item 1294729	NM_007166.4(PICALM):c.349+269G>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231235	NM_007166.4(PICALM):c.349+205A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 748516	NM_007166.4(PICALM):c.306G>A (p.Thr102=)	PICALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 689684	NM_007166.4(PICALM):c.274-1G>A	PICALM	Single nucleotide variant (splice acceptor variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 1228468	NM_007166.4(PICALM):c.274-93T>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283578	NM_007166.4(PICALM):c.273+293del	PICALM	Deletion (intron variant)	not provided	GBenign
Select item 2239633	NM_007166.4(PICALM):c.73A>G (p.Thr25Ala)	LOC126861284, PICALM (T25A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1232582	NM_001206947.2(PICALM):c.-24+314A>G	LOC126861284, PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2427027	NC_000011.9:g.(?_85339652)_(86666127_?)del	CCDC81, CCDC83 +11 more	Deletion	not provided	GPathogenic
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527657	GRCh37/hg19 11q14.1-14.2(chr11:85324893-85757693)	CCDC83, CCDC89 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815450	GRCh37/hg19 11q14.2(chr11:85774745-85990954)x3	PICALM, EED	Copy number gain	not provided	GUncertain significance
Select item 815449	GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	CCDC81, CCDC83 +29 more	Copy number gain	not provided	GPathogenic
Select item 815445	GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1	TMEM126A, PRSS23 +13 more	Copy number loss	not provided	GPathogenic
Select item 590793	GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	GRM5, HIKESHI +36 more	Copy number loss	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563851	GRCh37/hg19 11q14.2(chr11:85689406-86208902)x3	PICALM, CCDC81 +3 more	Copy number gain	not provided	GUncertain significance
Select item 560087	Single allele	EED, TMEM126A +13 more	Deletion	Exudative vitreoretinopathy 1	GPathogenic
Select item 443004	GRCh37/hg19 11q14.1-14.2(chr11:85506017-86930835)x3	CCDC81, CCDC83 +8 more	Copy number gain	See cases	GUncertain significance
Select item 442075	GRCh37/hg19 11q14.1-14.2(chr11:85475317-85681916)x1	CCDC83, PICALM +1 more	Copy number loss	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Items: 88