KAT8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 2665074	GRCh38/hg38 16p11.2(chr16:31113127-31122901)	BCKDK, KAT8 +1 more	Copy number loss	Li-Ghorbani-Weisz-Hubshman syndrome	GUncertain significance
Select item 3112779	NM_032188.3(KAT8):c.12G>C (p.Gln4His)	KAT8 (Q4H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355761	NM_032188.3(KAT8):c.35_55dup (p.Ala18_Gly19insAlaGlyThrSerGlyValAla)	KAT8	Duplication (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 1703415	NM_032188.3(KAT8):c.32C>T (p.Ala11Val)	KAT8 (A11V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372853	NM_032188.3(KAT8):c.55G>A (p.Gly19Arg)	KAT8 (G19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679609	NM_032188.3(KAT8):c.55G>C (p.Gly19Arg)	KAT8 (G19R)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GUncertain significance
Select item 2662045	NM_032188.3(KAT8):c.66_82del (p.Pro23fs)	KAT8 (P23fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2558139	NM_032188.3(KAT8):c.76G>C (p.Gly26Arg)	KAT8 (G26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3370270	NM_032188.3(KAT8):c.80_82delinsGGG (p.Glu27_Asn28delinsGlyAsp)	KAT8	Indel (missense variant)	not provided	GUncertain significance
Select item 2507201	NM_032188.3(KAT8):c.97G>A (p.Gly33Arg)	KAT8 (G33R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063963	NM_032188.3(KAT8):c.110C>G (p.Ser37Cys)	KAT8 (S37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214578	NM_032188.3(KAT8):c.115G>A (p.Gly39Ser)	KAT8 (G39S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3112780	NM_032188.3(KAT8):c.133A>G (p.Thr45Ala)	KAT8 (T45A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3378334	NM_032188.3(KAT8):c.180G>T (p.Thr60=)	KAT8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2214946	NM_032188.3(KAT8):c.188G>C (p.Cys63Ser)	KAT8 (C63S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2571948	NM_032188.3(KAT8):c.197C>T (p.Pro66Leu)	KAT8 (P66L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337193	NM_032188.3(KAT8):c.208T>G (p.Trp70Gly)	KAT8 (W70G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 976460	NM_032188.3(KAT8):c.269A>G (p.Tyr90Cys)	KAT8 (Y90C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1304632	NM_032188.3(KAT8):c.271G>A (p.Val91Ile)	KAT8 (V91I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684624	NM_032188.3(KAT8):c.275A>G (p.His92Arg)	KAT8 (H92R)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GPathogenic
Select item 3367556	NM_032188.3(KAT8):c.280G>C (p.Val94Leu)	KAT8 (V94L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497962	NM_032188.3(KAT8):c.287-3C>A	KAT8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 976461	NM_032188.3(KAT8):c.293G>A (p.Arg98Gln)	KAT8 (R98Q)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GPathogenic
Select item 3253327	NM_032188.3(KAT8):c.295C>T (p.Arg99Trp)	KAT8 (R99W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1690352	NM_032188.3(KAT8):c.296G>A (p.Arg99Gln)	KAT8 (R99Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3343475	NM_032188.3(KAT8):c.322C>T (p.Arg108Trp)	KAT8 (R108W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1700432	NM_032188.3(KAT8):c.372G>C (p.Glu124Asp)	KAT8 (E124D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2217472	NM_032188.3(KAT8):c.418C>T (p.Arg140Cys)	KAT8 (R140C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221600	NM_032188.3(KAT8):c.463-4C>G	KAT8	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2573753	NM_032188.3(KAT8):c.463-1G>A	KAT8	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2575836	NM_032188.3(KAT8):c.496T>A (p.Leu166Met)	KAT8 (L166M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2342354	NM_032188.3(KAT8):c.516G>A (p.Ala172=)	KAT8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 976462	NM_032188.3(KAT8):c.523A>G (p.Lys175Glu)	KAT8 (K175E)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GPathogenic
Select item 1329928	NM_032188.3(KAT8):c.524A>C (p.Lys175Thr)	KAT8 (K175T)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GLikely pathogenic
Select item 976463	NM_032188.3(KAT8):c.543G>C (p.Lys181Asn)	KAT8 (K181N)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GPathogenic
Select item 3046707	NM_032188.3(KAT8):c.566T>C (p.Ile189Thr)	KAT8 (I189T)	Single nucleotide variant (missense variant)	KAT8-related disorder	GUncertain significance
Select item 2307005	NM_032188.3(KAT8):c.569A>G (p.Asp190Gly)	KAT8 (D190G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2573808	NM_032188.3(KAT8):c.607A>T (p.Lys203Ter)	KAT8 (K203*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1308708	NM_032188.3(KAT8):c.617A>G (p.Lys206Arg)	KAT8 (K206R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446695	NM_032188.3(KAT8):c.630_631del (p.Cys210_Glu211delinsTer)	KAT8	Deletion (nonsense)	not provided	GUncertain significance
Select item 3351541	NM_032188.3(KAT8):c.636C>G (p.Tyr212Ter)	KAT8 (Y212*)	Single nucleotide variant (nonsense)	KAT8-related disorder	GUncertain significance
Select item 2683826	NM_032188.3(KAT8):c.649A>C (p.Met217Leu)	KAT8 (M217L)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GLikely pathogenic
Select item 2442712	NM_032188.3(KAT8):c.663G>T (p.Lys221Asn)	KAT8 (K221N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367119	NM_032188.3(KAT8):c.670C>T (p.Arg224Cys)	KAT8 (R224C)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GUncertain significance
Select item 3242197	NM_032188.3(KAT8):c.697C>T (p.Arg233Trp)	KAT8 (R233W)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GUncertain significance
Select item 2338286	NM_032188.3(KAT8):c.698G>A (p.Arg233Gln)	KAT8 (R233Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3368299	NM_032188.3(KAT8):c.704C>G (p.Pro235Arg)	KAT8 (P235R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663241	NM_032188.3(KAT8):c.722A>C (p.Tyr241Ser)	KAT8 (Y241S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2564869	NM_032188.3(KAT8):c.722A>G (p.Tyr241Cys)	KAT8 (Y241C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3112783	NM_032188.3(KAT8):c.724C>T (p.Arg242Cys)	KAT8 (R242C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699138	NM_032188.3(KAT8):c.725G>C (p.Arg242Pro)	KAT8 (R242P)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GUncertain significance
Select item 3363315	NM_032188.3(KAT8):c.756T>A (p.Asp252Glu)	KAT8 (D252E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702629	NM_032188.3(KAT8):c.769A>G (p.Lys257Glu)	KAT8 (K257E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363481	NM_032188.3(KAT8):c.771+1G>T	KAT8	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2442738	NM_032188.3(KAT8):c.827T>A (p.Leu276Gln)	KAT8 (L276Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341460	NM_032188.3(KAT8):c.895G>T (p.Val299Phe)	KAT8 (V299F)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GUncertain significance
Select item 2572304	NM_032188.3(KAT8):c.919G>A (p.Glu307Lys)	KAT8 (E307K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707903	NM_032188.3(KAT8):c.925C>T (p.Pro309Ser)	KAT8 (P309S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3112784	NM_032188.3(KAT8):c.926C>T (p.Pro309Leu)	KAT8 (P309L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3345108	NM_032188.3(KAT8):c.931_932delinsCT (p.Gly311Leu)	KAT8 (G311L)	Indel (missense variant)	KAT8-related disorder	GUncertain significance
Select item 2548778	NM_032188.3(KAT8):c.962C>A (p.Pro321His)	KAT8 (P321H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2573908	NM_032188.3(KAT8):c.965C>T (p.Pro322Leu)	KAT8 (P322L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373262	NM_032188.3(KAT8):c.993C>G (p.Phe331Leu)	KAT8 (F331L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636255	NM_032188.3(KAT8):c.1006+5G>C	KAT8	Single nucleotide variant (intron variant)	KAT8-related disorder	GUncertain significance
Select item 1678418	NM_032188.3(KAT8):c.1053G>T (p.Lys351Asn)	KAT8 (K351N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287073	NM_032188.3(KAT8):c.1056A>G (p.Pro352=)	KAT8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1678419	NM_032188.3(KAT8):c.1061C>G (p.Ser354Cys)	KAT8 (S354C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405742	NM_032188.3(KAT8):c.1085G>A (p.Arg362His)	KAT8 (R362H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1237226	NM_032188.3(KAT8):c.1110A>G (p.Leu370=)	KAT8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2551174	NM_032188.3(KAT8):c.1120C>T (p.Arg374Trp)	KAT8 (R374W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3364242	NM_032188.3(KAT8):c.1121G>T (p.Arg374Leu)	KAT8 (R374L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2605701	NM_032188.3(KAT8):c.1129C>T (p.Arg377Trp)	KAT8 (R377W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3339901	NM_032188.3(KAT8):c.1157+6G>A	KAT8	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3364406	NM_032188.3(KAT8):c.1249_1250del (p.Val417fs)	KAT8 (V417fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3236405	NM_032188.3(KAT8):c.1284T>G (p.Ser428Arg)	KAT8 (S428R)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GUncertain significance
Select item 3253076	NM_032188.3(KAT8):c.1311_1312+2del	KAT8 (W440fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2211575	NM_032188.3(KAT8):c.1312+12G>A	KAT8 (A442T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2646470	NM_032188.3(KAT8):c.1312+24C>G	KAT8 (R446G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3045726	NM_032188.3(KAT8):c.1312+25G>A	KAT8 (R446Q)	Single nucleotide variant (missense variant +1 more)	KAT8-related disorder	GLikely benign
Select item 3112781	NM_032188.3(KAT8):c.1312+31G>A	KAT8 (R448Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2189567	NM_032188.3(KAT8):c.1312+34G>C	KAT8 (W449S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3287404	NM_032188.3(KAT8):c.1312+35G>C	KAT8 (W449C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3112782	NM_032188.3(KAT8):c.1312+48A>G	KAT8 (I454V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3059838	NM_032188.3(KAT8):c.1312+50A>G	KAT8 (I454M)	Single nucleotide variant (missense variant +1 more)	KAT8-related disorder	GBenign
Select item 2340050	NM_032188.3(KAT8):c.1312+54A>T	KAT8 (T456S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2623153	NM_032188.3(KAT8):c.1312+58G>A	KAT8 (G457D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535995	NM_032188.3(KAT8):c.1312+82C>G	KAT8 (A465G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1526506	GRCh37/hg19 16p11.2(chr16:30943854-31171177)	PRSS53, PRSS8 +12 more	Copy number loss	not specified	GLikely pathogenic
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 687383	GRCh37/hg19 16p11.2(chr16:30851860-31156762)x1	BCKDK, BCL7C +14 more	Copy number loss	not provided	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443135	GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1	BCKDK, FBXL19 +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic

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