14148[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 150513	GRCh38/hg38 16p13.3(chr16:412341-925326)x3	ANTKMT, CAPN15 +76 more	Copy number gain	See cases	GUncertain significance
Select item 151645	GRCh38/hg38 16p13.3(chr16:534395-722554)x3	ANTKMT, CAPN15 +47 more	Copy number gain	See cases	GBenign
Select item 145938	GRCh38/hg38 16p13.3(chr16:551385-722554)x3	ANTKMT, CAPN15 +45 more	Copy number gain	See cases	GLikely benign
Select item 151633	GRCh38/hg38 16p13.3(chr16:636673-786508)x3	ANTKMT, CCDC78 +40 more	Copy number gain	See cases	GBenign
Select item 145245	GRCh38/hg38 16p13.3(chr16:636673-722554)x1	ANTKMT, FBXL16 +26 more	Copy number loss	See cases	GBenign
Select item 145243	GRCh38/hg38 16p13.3(chr16:636673-722554)x3	LOC130058119, LOC130058120 +26 more	Copy number gain	See cases	GBenign
Select item 152593	GRCh38/hg38 16p13.3(chr16:650260-722554)x1	ANTKMT, FBXL16 +18 more	Copy number loss	See cases	GBenign
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 1175878	NM_005861.4(STUB1):c.346A>G (p.Asn116Asp)	JMJD8, RHBDL1 +2 more (N116D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16 +1 more	GUncertain significance
Select item 1222578	NM_001005920.4(JMJD8):c.*1069A>C	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1236838	NM_001005920.4(JMJD8):c.*1023G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2990049	NM_001005920.4(JMJD8):c.*1020C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2965516	NM_001005920.4(JMJD8):c.*1018A>G	STUB1, JMJD8	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1027453	NM_001005920.4(JMJD8):c.*1009T>C	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 16	GUncertain significance
Select item 2992287	NM_001005920.4(JMJD8):c.*1005G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1698848	NM_005861.4(STUB1):c.525-1G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	Spinocerebellar ataxia 48	GLikely pathogenic
Select item 1723795	NM_005861.4(STUB1):c.535G>A (p.Glu179Lys)	STUB1, JMJD8 (E107K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2090388	NM_005861.4(STUB1):c.539G>A (p.Cys180Tyr)	JMJD8, STUB1 (C180Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2045145	NM_005861.4(STUB1):c.543G>T (p.Gln181His)	JMJD8, STUB1 (Q109H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1895542	NM_005861.4(STUB1):c.543G>A (p.Gln181=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1301244	NM_005861.4(STUB1):c.544C>T (p.Arg182Ter)	JMJD8, STUB1 (R110* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 1980459	NM_005861.4(STUB1):c.545G>A (p.Arg182Gln)	JMJD8, STUB1 (R110Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2645846	NM_005861.4(STUB1):c.552C>T (p.His184=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1909215	NM_005861.4(STUB1):c.553G>A (p.Glu185Lys)	JMJD8, STUB1 (E113K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 2645847	NM_005861.4(STUB1):c.568G>A (p.Asp190Asn)	JMJD8, STUB1 (D118N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2461785	NM_005861.4(STUB1):c.575A>G (p.His192Arg)	JMJD8, STUB1 (H192R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2068965	NM_005861.4(STUB1):c.577G>A (p.Val193Ile)	JMJD8, STUB1 (V121I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3171712	NM_005861.4(STUB1):c.581G>A (p.Arg194Gln)	JMJD8, STUB1 (R194Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2694750	NM_005861.4(STUB1):c.587A>G (p.Gln196Arg)	JMJD8, STUB1 (Q124R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1721903	NM_005861.4(STUB1):c.591G>C (p.Gln197His)	STUB1, JMJD8 (Q125H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1679377	NM_005861.4(STUB1):c.612+4_612+46del	JMJD8, STUB1	Deletion (3 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 16	GUncertain significance
Select item 2777378	NM_001005920.4(JMJD8):c.907_908delinsAA	JMJD8, STUB1	Indel (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2070282	NM_001005920.4(JMJD8):c.*904dup	JMJD8, STUB1	Duplication (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1028430	NM_001005920.4(JMJD8):c.*903G>C	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 16	GUncertain significance
Select item 2796640	NM_001005920.4(JMJD8):c.*898T>C	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1707113	NM_001005920.4(JMJD8):c.*861C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1710839	NM_001005920.4(JMJD8):c.*841C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3257486	NM_001005920.4(JMJD8):c.*782G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1926384	NM_005861.4(STUB1):c.615C>G (p.Asp205Glu)	JMJD8, STUB1 (D133E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 996804	NM_005861.4(STUB1):c.617_618del (p.Lys206fs)	JMJD8, STUB1 (K134fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 3171713	NM_005861.4(STUB1):c.626C>T (p.Ala209Val)	JMJD8, STUB1 (A209V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2645848	NM_005861.4(STUB1):c.627G>A (p.Ala209=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2504526	NM_005861.4(STUB1):c.636C>G (p.Asp212Glu)	JMJD8, STUB1 (D140E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1916164	NM_005861.4(STUB1):c.636C>T (p.Asp212=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1946259	NM_005861.4(STUB1):c.640C>G (p.Leu214Val)	JMJD8, STUB1 (L142V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 436887	NM_005861.4(STUB1):c.646dup (p.Ser216fs)	STUB1, JMJD8 (S216fs +1 more)	Duplication (frameshift variant +2 more)	Autosomal recessive spinocerebellar ataxia 16 +1 more	GPathogenic/Likely pathogenic
Select item 783725	NM_005861.4(STUB1):c.642T>C (p.Leu214=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive spinocerebellar ataxia 16 +2 more	GBenign/Likely benign
Select item 3171714	NM_005861.4(STUB1):c.658G>A (p.Glu220Lys)	JMJD8, STUB1 (E148K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3062185	NM_005861.4(STUB1):c.669+2T>C	JMJD8, RHBDL1 +2 more	Single nucleotide variant (3 prime UTR variant +2 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 3019976	NM_001005920.4(JMJD8):c.*706AC[3]	JMJD8, STUB1	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2032470	NM_001005920.4(JMJD8):c.*711C>A	STUB1, JMJD8	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2696096	NM_001005920.4(JMJD8):c.*709C>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1991236	NM_001005920.4(JMJD8):c.*705G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2959210	NM_001005920.4(JMJD8):c.*704C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1988697	NM_001005920.4(JMJD8):c.*704C>G	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2967654	NM_001005920.4(JMJD8):c.*649G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1906979	NM_001005920.4(JMJD8):c.*644C>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 807332	NM_005861.4(STUB1):c.673C>T (p.Arg225Ter)	JMJD8, STUB1 (R225* +1 more)	Single nucleotide variant (nonsense +2 more)	Spinocerebellar ataxia 48 +1 more	GPathogenic/Likely pathogenic
Select item 2846333	NM_005861.4(STUB1):c.677A>G (p.Asp226Gly)	JMJD8, STUB1 (D226G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 997700	NM_005861.4(STUB1):c.682C>T (p.Pro228Ser)	STUB1, JMJD8 (P228S +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia 48	GPathogenic
Select item 871159	NM_005861.4(STUB1):c.689_692del (p.Tyr230fs)	JMJD8, STUB1 (Y158fs +1 more)	Deletion (frameshift variant +2 more)	Spinocerebellar ataxia 48 +1 more	GPathogenic/Likely pathogenic
Select item 436888	NM_005861.4(STUB1):c.694_699del (p.Cys232_Gly233del)	JMJD8, STUB1	Deletion (inframe_deletion +2 more)	Autosomal recessive spinocerebellar ataxia 16	GLikely pathogenic
Select item 2708089	NM_005861.4(STUB1):c.714G>A (p.Glu238=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 127148	NM_005861.4(STUB1):c.719T>C (p.Met240Thr)	JMJD8, STUB1 (M240T +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic
Select item 1027452	NM_005861.4(STUB1):c.721C>T (p.Arg241Trp)	JMJD8, STUB1 (R169W +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia 48	GLikely pathogenic
Select item 436889	NM_005861.4(STUB1):c.721C>G (p.Arg241Gly)	JMJD8, STUB1 (R241G +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive spinocerebellar ataxia 16	GLikely pathogenic
Select item 3027432	NM_005861.4(STUB1):c.728C>T (p.Pro243Leu)	JMJD8, STUB1 (P171L +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 2072318	NM_005861.4(STUB1):c.729G>A (p.Pro243=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1303591	NM_005861.4(STUB1):c.736A>C (p.Thr246Pro)	JMJD8, STUB1 (T174P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 127146	NM_005861.4(STUB1):c.737C>T (p.Thr246Met)	JMJD8, STUB1 (T246M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1678576	NM_005861.4(STUB1):c.746G>T (p.Gly249Val)	JMJD8, STUB1 (G177V +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 2579395	NM_005861.4(STUB1):c.752C>A (p.Thr251Asn)	JMJD8, STUB1 (T179N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3238772	NM_005861.4(STUB1):c.755A>G (p.Tyr252Cys)	JMJD8, STUB1 (Y180C +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 2188171	NM_005861.4(STUB1):c.756C>T (p.Tyr252=)	STUB1, JMJD8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 807333	NM_005861.4(STUB1):c.757G>A (p.Asp253Asn)	JMJD8, STUB1 (D253N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1320727	NM_005861.4(STUB1):c.760C>T (p.Arg254Cys)	JMJD8, STUB1 (R182C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 982033	NM_005861.4(STUB1):c.760C>G (p.Arg254Gly)	STUB1, JMJD8 (R182G +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia 48	GLikely pathogenic
Select item 2570918	NM_005861.4(STUB1):c.771C>T (p.Ile257=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1679956	NM_005861.4(STUB1):c.778dup (p.His260fs)	JMJD8, STUB1 (H188fs +1 more)	Duplication (frameshift variant +2 more)	Spinocerebellar ataxia 48	GLikely pathogenic
Select item 1184458	NM_005861.4(STUB1):c.779A>C (p.His260Pro)	JMJD8, STUB1 (H188P +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive spinocerebellar ataxia 16	GLikely pathogenic
Select item 3338115	NM_005861.4(STUB1):c.784C>T (p.Gln262Ter)	JMJD8, STUB1 (Q190* +1 more)	Single nucleotide variant (nonsense +2 more)	Spinocerebellar ataxia 48	GLikely pathogenic
Select item 2443273	NM_005861.4(STUB1):c.786G>C (p.Gln262His)	JMJD8, STUB1 (Q190H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1185469	NM_001005920.4(JMJD8):c.*506del	STUB1, JMJD8	Deletion (intron variant +2 more)	Spinocerebellar ataxia 48 +2 more	GBenign
Select item 2960693	NM_001005920.4(JMJD8):c.*502G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2956318	NM_001005920.4(JMJD8):c.*447G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2995712	NM_001005920.4(JMJD8):c.*446G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign

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