HIKESHI[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 150919	GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3	CCDC81, CCDC83 +51 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 1652292	NM_016401.4(HIKESHI):c.31-16G>A	HIKESHI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2706965	NM_016401.4(HIKESHI):c.31-15T>A	HIKESHI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 717556	NM_016401.4(HIKESHI):c.31-4C>T	HIKESHI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 376818	NM_016401.4(HIKESHI):c.31-1G>T	HIKESHI	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1466246	NM_016401.4(HIKESHI):c.52G>A (p.Val18Met)	HIKESHI (V18M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1422008	NM_016401.4(HIKESHI):c.65A>C (p.Lys22Thr)	HIKESHI (K22T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2172474	NM_016401.4(HIKESHI):c.99C>T (p.Ile33=)	HIKESHI	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 729865	NM_016401.4(HIKESHI):c.130A>G (p.Ile44Val)	HIKESHI (I44V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2642254	NM_016401.4(HIKESHI):c.132C>T (p.Ile44=)	HIKESHI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1354159	NM_016401.4(HIKESHI):c.139C>T (p.Pro47Ser)	HIKESHI (P8S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1946085	NM_016401.4(HIKESHI):c.148A>G (p.Met50Val)	HIKESHI (M11V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 224891	NM_016401.4(HIKESHI):c.160G>C (p.Val54Leu)	HIKESHI (V54L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 522042	NM_016401.4(HIKESHI):c.164A>G (p.Tyr55Cys)	HIKESHI (Y55C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1963520	NM_016401.4(HIKESHI):c.174T>C (p.Tyr58=)	HIKESHI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2041862	NM_016401.4(HIKESHI):c.200G>A (p.Trp67Ter)	HIKESHI (W28* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1438435	NM_016401.4(HIKESHI):c.200G>T (p.Trp67Leu)	HIKESHI (W67L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 729866	NM_016401.4(HIKESHI):c.204A>G (p.Gln68=)	HIKESHI	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 427032	NM_016401.4(HIKESHI):c.232C>T (p.Pro78Ser)	HIKESHI (P78S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2048484	NM_016401.4(HIKESHI):c.236G>T (p.Ser79Ile)	HIKESHI (S79I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2419418	NM_016401.4(HIKESHI):c.268+7A>G	HIKESHI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2062287	NM_016401.4(HIKESHI):c.268+10A>G	HIKESHI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628335	NM_016401.4(HIKESHI):c.268+14A>T	HIKESHI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899127	NM_016401.4(HIKESHI):c.269-20C>G	HIKESHI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644219	NM_016401.4(HIKESHI):c.269-20C>T	HIKESHI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1977261	NM_016401.4(HIKESHI):c.269-19A>G	HIKESHI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023704	NM_016401.4(HIKESHI):c.269-10T>C	HIKESHI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038019	NM_016401.4(HIKESHI):c.269-7C>A	HIKESHI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2231112	NM_016401.4(HIKESHI):c.269-3C>T	HIKESHI	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2115400	NM_016401.4(HIKESHI):c.295G>T (p.Ala99Ser)	HIKESHI (A60S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2063445	NM_016401.4(HIKESHI):c.311G>A (p.Arg104Gln)	HIKESHI (R104Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1500572	NM_016401.4(HIKESHI):c.319T>A (p.Ser107Thr)	HIKESHI (S107T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1029600	NM_016401.4(HIKESHI):c.325G>C (p.Ala109Pro)	HIKESHI (A70P +1 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 13	GUncertain significance
Select item 2585407	NM_016401.4(HIKESHI):c.344del (p.Val115fs)	HIKESHI (V76fs +1 more)	Deletion (frameshift variant +1 more)	Hypomyelinating leukodystrophy 13	GLikely pathogenic
Select item 2190791	NM_016401.4(HIKESHI):c.357C>T (p.Asp119=)	HIKESHI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 733664	NM_016401.4(HIKESHI):c.369G>A (p.Gln123=)	HIKESHI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1363994	NM_016401.4(HIKESHI):c.404T>C (p.Val135Ala)	HIKESHI (V135A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1998791	NM_016401.4(HIKESHI):c.408C>T (p.Asp136=)	HIKESHI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 756114	NM_016401.4(HIKESHI):c.420+9A>G	HIKESHI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643608	NM_016401.4(HIKESHI):c.420+14C>T	HIKESHI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534831	NM_016401.4(HIKESHI):c.436T>C (p.Leu146=)	HIKESHI	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3248553	NM_016401.4(HIKESHI):c.518C>T (p.Pro173Leu)	HIKESHI (P134L +2 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 13	GLikely pathogenic
Select item 1474666	NM_016401.4(HIKESHI):c.520G>A (p.Ala174Thr)	HIKESHI (A174T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 720439	NM_016401.4(HIKESHI):c.534G>A (p.Leu178=)	HIKESHI	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2770683	NM_016401.4(HIKESHI):c.536A>G (p.Lys179Arg)	HIKESHI (K140R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3021578	NM_016401.4(HIKESHI):c.540-29_540-18del	HIKESHI	Deletion (intron variant)	not provided	GBenign
Select item 2036078	NM_016401.4(HIKESHI):c.543T>C (p.Tyr181=)	HIKESHI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2055615	NM_016401.4(HIKESHI):c.552T>C (p.Phe184=)	HIKESHI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1932689	NM_016401.4(HIKESHI):c.555A>G (p.Gln185=)	HIKESHI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967314	NM_016401.4(HIKESHI):c.562C>T (p.Leu188=)	HIKESHI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2807776	NM_016401.4(HIKESHI):c.573C>T (p.Asn191=)	HIKESHI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1980961	NM_016401.4(HIKESHI):c.591A>G (p.Thr197=)	HIKESHI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2427027	NC_000011.9:g.(?_85339652)_(86666127_?)del	CCDC81, CCDC83 +11 more	Deletion	not provided	GPathogenic
Select item 2426305	NC_000011.9:g.(?_86013491)_(86013540_?)dup	HIKESHI	Duplication	not provided	GUncertain significance
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	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
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	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
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 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 395617	GRCh37/hg19 11q14.2(chr11:85977240-86037678)x3	EED, HIKESHI	Copy number gain	See cases	GUncertain significance

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Items: 78