2857[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 2255754	NM_201532.3(DGKZ):c.80G>A (p.Arg27Gln)	DGKZ (R27Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081983	NM_201532.3(DGKZ):c.100G>A (p.Glu34Lys)	DGKZ (E34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081984	NM_201532.3(DGKZ):c.101A>T (p.Glu34Val)	DGKZ (E34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553891	NM_201532.3(DGKZ):c.166G>A (p.Glu56Lys)	DGKZ (E56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483230	NM_201532.3(DGKZ):c.178C>G (p.Arg60Gly)	DGKZ (R60G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394205	NM_201532.3(DGKZ):c.182A>G (p.Gln61Arg)	DGKZ (Q61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641743	NM_001199267.2(DGKZ):c.15C>T (p.Asp5=)	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641744	NM_001199267.2(DGKZ):c.87C>T (p.Ala29=)	DGKZ	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2974841	NM_001199267.2(DGKZ):c.162-1023_162-1020del	DGKZ (F4fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1431476	NM_001199267.2(DGKZ):c.162-1007C>T	DGKZ (R10W)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 724256	NM_001199267.2(DGKZ):c.162-1006G>A	DGKZ (R10Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2273419	NM_001199267.2(DGKZ):c.162-1003G>A	DGKZ (G11E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1005235	NM_001199267.2(DGKZ):c.162-998G>A	DGKZ (V13M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1601360	NM_001199267.2(DGKZ):c.162-989C>G	DGKZ (P16A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2970314	NM_001199267.2(DGKZ):c.162-981G>A	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2723971	NM_001199267.2(DGKZ):c.162-977C>T	DGKZ (Q20*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1167142	NM_001199267.2(DGKZ):c.162-973A>G	DGKZ (Q21R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1907931	NM_001199267.2(DGKZ):c.162-971C>T	DGKZ (R22W)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2079534	NM_001199267.2(DGKZ):c.162-970G>A	DGKZ (R22Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 784214	NM_001199267.2(DGKZ):c.162-958T>C	DGKZ (V26A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2169469	NM_001199267.2(DGKZ):c.162-935C>T	DGKZ (R34W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1432058	NM_001199267.2(DGKZ):c.162-934G>A	DGKZ (R34Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2722042	NM_001199267.2(DGKZ):c.162-932C>G	DGKZ (R35G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2082614	NM_001199267.2(DGKZ):c.162-932C>A	DGKZ (R35S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2704429	NM_001199267.2(DGKZ):c.162-931G>C	DGKZ (R35P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1354037	NM_001199267.2(DGKZ):c.162-931G>A	DGKZ (R35H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3081985	NM_001199267.2(DGKZ):c.162-929C>T	DGKZ (R36C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2067629	NM_001199267.2(DGKZ):c.162-928G>A	DGKZ (R36H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 431728	NM_001199267.2(DGKZ):c.162-921dup	DGKZ (A39fs)	Duplication (frameshift variant +1 more)	atypical cerebral palsy	GPathogenic
Select item 2409954	NM_001199267.2(DGKZ):c.162-925C>A	DGKZ (S37Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2849264	NM_001199267.2(DGKZ):c.162-924C>G	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1650033	NM_001199267.2(DGKZ):c.162-921C>T	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3081986	NM_001199267.2(DGKZ):c.162-920G>A	DGKZ (A39T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1539907	NM_001199267.2(DGKZ):c.162-910CCT[2]	DGKZ (S45del)	Microsatellite (inframe_deletion +1 more)	not provided	GBenign/Likely benign
Select item 2191467	NM_001199267.2(DGKZ):c.162-908T>G	DGKZ (S43A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2389151	NM_001199267.2(DGKZ):c.162-898T>C	DGKZ (L46P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2755398	NM_001199267.2(DGKZ):c.162-890C>T	DGKZ (R49W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2811794	NM_001199267.2(DGKZ):c.162-889G>T	DGKZ (R49L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1933561	NM_001199267.2(DGKZ):c.162-889G>A	DGKZ (R49Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1420677	NM_001199267.2(DGKZ):c.162-884C>T	DGKZ (R51C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2179664	NM_001199267.2(DGKZ):c.162-875G>A	DGKZ (A54T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1552913	NM_001199267.2(DGKZ):c.162-857C>T	DGKZ (L60F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2179187	NM_001199267.2(DGKZ):c.162-845G>A	DGKZ (G64R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2026343	NM_001199267.2(DGKZ):c.162-843G>C	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2598356	NM_001199267.2(DGKZ):c.162-836G>C	DGKZ (A67P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1606626	NM_001199267.2(DGKZ):c.162-830G>T	DGKZ (G69C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1661561	NM_001199267.2(DGKZ):c.162-822C>T	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1168781	NM_001199267.2(DGKZ):c.162-817G>A	DGKZ (R73Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2054228	NM_001199267.2(DGKZ):c.162-815C>T	DGKZ (R74C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2918985	NM_001199267.2(DGKZ):c.162-814G>A	DGKZ (R74H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2752536	NM_001199267.2(DGKZ):c.162-814G>T	DGKZ (R74L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1984212	NM_001199267.2(DGKZ):c.162-810C>T	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2831914	NM_001199267.2(DGKZ):c.162-800C>T	DGKZ (P79S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2105330	NM_001199267.2(DGKZ):c.162-799C>T	DGKZ (P79L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1464771	NM_001199267.2(DGKZ):c.162-754_162-752del	DGKZ (P94del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2553578	NM_001199267.2(DGKZ):c.162-751A>G	DGKZ (Q95R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1583250	NM_001199267.2(DGKZ):c.162-741C>G	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1353505	NM_001199267.2(DGKZ):c.162-733C>G	DGKZ (A101G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1440428	NM_001199267.2(DGKZ):c.162-713C>G	DGKZ (L108V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2239519	NM_001199267.2(DGKZ):c.162-698C>T	DGKZ (L113F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2958225	NM_001199267.2(DGKZ):c.162-667A>G	DGKZ (Q123R)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2170730	NM_001199267.2(DGKZ):c.162-651C>T	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1600166	NM_001199267.2(DGKZ):c.162-642G>A	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3081992	NM_001199267.2(DGKZ):c.162-622C>G	DGKZ (T138S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779137	NM_001199267.2(DGKZ):c.162-621C>T	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3081993	NM_001199267.2(DGKZ):c.162-620A>G	DGKZ (K139E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1481246	NM_001199267.2(DGKZ):c.162-614C>G	DGKZ (P141A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1650043	NM_001199267.2(DGKZ):c.162-604C>T	DGKZ (P144L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2140236	NM_001199267.2(DGKZ):c.162-596C>T	DGKZ (R147W)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1457225	NM_001199267.2(DGKZ):c.162-591C>T	DGKZ	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1477428	NM_001199267.2(DGKZ):c.162-587C>G	DGKZ (Q150E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2123937	NM_001199267.2(DGKZ):c.162-586A>G	DGKZ (Q150R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2979840	NM_001199267.2(DGKZ):c.162-583C>T	DGKZ (P151L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1942113	NM_001199267.2(DGKZ):c.162-579G>A	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2069055	NM_001199267.2(DGKZ):c.162-566C>T	DGKZ (R157C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1915573	NM_001199267.2(DGKZ):c.162-565G>A	DGKZ (R157H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2036353	NM_001199267.2(DGKZ):c.162-558G>A	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964663	NM_001199267.2(DGKZ):c.162-557C>T	DGKZ (R160C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 757633	NM_001199267.2(DGKZ):c.162-534C>G	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1356803	NM_001199267.2(DGKZ):c.162-528G>A	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2009423	NM_001199267.2(DGKZ):c.162-525_162-524del	DGKZ (A171fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1485785	NM_001199267.2(DGKZ):c.162-519A>G	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1916401	NM_001199267.2(DGKZ):c.162-517A>T	DGKZ (Y173F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1547297	NM_001199267.2(DGKZ):c.162-510C>T	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1666201	NM_001199267.2(DGKZ):c.162-492C>T	DGKZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1442493	NM_001199267.2(DGKZ):c.162-491G>A	DGKZ (G182S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1513583	NM_001199267.2(DGKZ):c.162-482C>T	DGKZ (R185W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2964889	NM_001199267.2(DGKZ):c.162-479C>G	DGKZ (R186G)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2160808	NM_001199267.2(DGKZ):c.162-466G>A	DGKZ (R190Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3081994	NM_001199267.2(DGKZ):c.162-463G>C	DGKZ (R191P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2068966	NM_001199267.2(DGKZ):c.162-461C>T	DGKZ (P192S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2849265	NM_001199267.2(DGKZ):c.162-431C>G	DGKZ (R202G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2842518	NM_001199267.2(DGKZ):c.162-424C>T	DGKZ (A204V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1469478	NM_001199267.2(DGKZ):c.162-421C>T	DGKZ (S205L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2714712	NM_001199267.2(DGKZ):c.162-410G>A	DGKZ (A209T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1991907	NM_001199267.2(DGKZ):c.162-383C>T	DGKZ (R218C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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